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
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:48500135C>T	uc001zwn.4	+	1	435	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Silent_p.F73F|SLC12A1_uc010uex.2_Silent_p.F73F	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	73					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428000														47			10		0	0	0.010729	0	0
EML3	256364	broad.mit.edu	37	11	62376026	62376026	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:62376026G>A	uc010rly.1	-	8	1406	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	EML3_uc001ntr.1_Silent_p.A338A|EML3_uc001nts.1_Silent_p.A338A|EML3_uc001ntt.1_Silent_p.A250A|EML3_uc001ntu.1_Silent_p.A366A|EML3_uc009yny.1_Silent_p.A149A			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	366						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCTGAAAAGGCCAGGGCCC	0.602000														116			20		0	0	0.010504	0	0
RIMS2	9699	broad.mit.edu	37	8	104927725	104927725	+	Silent	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:104927725T>G	uc003yls.3	+	4	1390	c.1149T>G	c.(1147-1149)gtT>gtG	p.V383V	RIMS2_uc003ylp.3_Silent_p.V605V|RIMS2_uc003ylw.2_Silent_p.V413V|RIMS2_uc003ylq.3_Silent_p.V413V|RIMS2_uc003ylr.3_Silent_p.V460V|RIMS2_uc003ylt.3_Silent_p.V6V|RIMS2_uc003ylu.1_5'UTR|RIMS2_uc003ylv.1_5'UTR	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	683					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAACAGGTTGTAGGAGGAA	0.348000										HNSCC(12;0.0054)				21			3		0	0	0.004672	0	0
AMOTL1	154810	broad.mit.edu	37	11	94599213	94599214	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:94599213_94599214CC>AT	uc001pfb.3	+	10	2538_2539	c.2368_2369CC>AT	c.(2368-2370)cct>ATt	p.P790I	AMOTL1_uc001pfc.3_Missense_Mutation_p.P740I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	790						cytoplasm|tight junction	identical protein binding	p.R790C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCTACGTCCTGCCCGCTCC	0.525000														21			6		0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55698693	55698693	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:55698693G>A	uc010qhy.1	-	25	3665	c.3270C>T	c.(3268-3270)atC>atT	p.I1090I	PCDH15_uc010qhq.2_Silent_p.I1090I|PCDH15_uc010qhr.2_Silent_p.I1085I|PCDH15_uc021pqv.1_Silent_p.I1085I|PCDH15_uc021pqw.1_Silent_p.I1097I|PCDH15_uc010qht.2_Silent_p.I1092I|PCDH15_uc021pqx.1_Silent_p.I1085I|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.I1085I|PCDH15_uc021pqz.1_Silent_p.I1063I|PCDH15_uc010qhv.1_Silent_p.I1085I|PCDH15_uc010qhw.1_Silent_p.I1048I|PCDH15_uc010qhx.1_Silent_p.I1014I|PCDH15_uc010qhz.1_Silent_p.I1085I|PCDH15_uc010qia.1_Silent_p.I1063I|PCDH15_uc001jju.1_Silent_p.I1085I|PCDH15_uc010qib.1_Silent_p.I1063I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1085	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAACACCTGTGATGTTATTAA	0.378000										HNSCC(58;0.16)				37			8		0	0	0.004482	0	0
ZNF184	7738	broad.mit.edu	37	6	27419180	27419180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:27419180G>A	uc003njj.3	-	4	2969	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y	ZNF184_uc010jqv.3_Missense_Mutation_p.H720Y|ZNF184_uc003nji.3_Missense_Mutation_p.H720Y	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCCTGAATGAATTCTCTGG	0.398000														114			12		0	0	0.013537	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464720	202464720	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202464720T>G	uc001gya.2	+	16	2508	c.2358T>G	c.(2356-2358)gaT>gaG	p.D786E	PPP1R12B_uc001gyb.1_Missense_Mutation_p.D12E|PPP1R12B_uc001gyc.1_Missense_Mutation_p.D12E	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	786					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGATTTGGATGAGCAGTCCT	0.478000														32			3		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152282627	152282627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152282627C>T	uc001ezu.1	-	2	4771	c.4735G>A	c.(4735-4737)Gga>Aga	p.G1579R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1579	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1579fs*16(2)		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)			GCTGATTCTCCCTGGCCCACC	0.587000									Ichthyosis					150			13		0	0	0.002450	0	0
DSP	1832	broad.mit.edu	37	6	7580796	7580796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7580796G>A	uc003mxp.1	+	22	4652	c.4373G>A	c.(4372-4374)cGa>cAa	p.R1458Q	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1458	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAGATGCGAACAGAGGAG	0.463000														60			5		0	0	0.000602	0	0
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:95746664G>A	uc003kls.2	-	7	1148	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Silent_p.F256F	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498000														69			9		0	0	0.004482	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516679	140516679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140516679G>A	uc003liq.3	+	0	1880	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	555	Cadherin 5.				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)			GGACGCCAACGACAACTCGCC	0.716000														36			10		0	0	0.010729	0	0
NR5A1	2516	broad.mit.edu	37	9	127262788	127262788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:127262788C>T	uc004boo.1	-	3	638	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	NR5A1_uc022bnh.1_Missense_Mutation_p.G151S	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	151					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCGGCCAGGCCCTTGGGCTCA	0.741000														12			3		0	0	0.000602	0	0
SCFD1	23256	broad.mit.edu	37	14	31191711	31191711	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:31191711T>G	uc001wqm.1	+	22	1806	c.1782T>G	c.(1780-1782)ttT>ttG	p.F594L	SCFD1_uc001wqn.1_Missense_Mutation_p.F527L|SCFD1_uc010tpg.1_Missense_Mutation_p.F535L|SCFD1_uc010tph.1_Missense_Mutation_p.F409L|SCFD1_uc010amf.1_Missense_Mutation_p.F409L|SCFD1_uc010tpi.1_Missense_Mutation_p.F502L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	594					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCATTGTTTTTGTGGTGGGAG	0.303000														66			4		0	0	0.009096	0	0
AKAP13	11214	broad.mit.edu	37	15	86076872	86076872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86076872C>T	uc002blv.1	+	3	409	c.239C>T	c.(238-240)cCc>cTc	p.P80L	AKAP13_uc002bls.3_Missense_Mutation_p.P80L|AKAP13_uc002blt.1_Missense_Mutation_p.P80L|AKAP13_uc002blu.1_Missense_Mutation_p.P80L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	80					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGGGCCTTCCCGTGTTTGTG	0.468000														72			10		0	0	0.008291	0	0
KIAA1045	23349	broad.mit.edu	37	9	34972408	34972408	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:34972408G>A	uc003zvq.3	+	2	622	c.444G>A	c.(442-444)agG>agA	p.R148R	KIAA1045_uc003zvr.3_Silent_p.R148R	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	148							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCCCGTGCAGGGTCTGCACCA	0.562000														105			10		0	0	0.006214	0	0
TBX15	6913	broad.mit.edu	37	1	119427931	119427931	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:119427931C>T	uc001ehl.1	-	7	1230	c.915G>A	c.(913-915)caG>caA	p.Q305Q	TBX15_uc009whj.1_Silent_p.Q129Q	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGGGTAGCTCTGCAAGGCAG	0.542000														30			4		0	0	0.009096	0	0
TAOK1	57551	broad.mit.edu	37	17	27844579	27844579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27844579C>T	uc002hdz.2	+	15	2007	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	605					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.R605*(3)		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)			TAACCTTCTTCGACGTCAAAG	0.443000														97			9		0	0	0.006214	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925012	105925012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:105925012G>A	uc001pja.3	-	3	1044	c.404C>T	c.(403-405)tCc>tTc	p.S135F	KBTBD3_uc001pjb.3_Missense_Mutation_p.S135F|KBTBD3_uc009yxm.3_Missense_Mutation_p.S56F	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	131										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GGATAGGAAGGAAACTTGAAG	0.323000														13			3		0	0	0.004672	0	0
APOL6	80830	broad.mit.edu	37	22	36055545	36055545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:36055545G>A	uc003aoe.3	+	2	1228	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	312					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGGGACCTGCGAAACCGAGGC	0.512000														44			13		0	0	0.002450	0	0
TRERF1	55809	broad.mit.edu	37	6	42227387	42227387	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42227387C>T	uc003ose.2	-	8	2582	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	TRERF1_uc011duq.1_Silent_p.K570K|TRERF1_uc003osb.2_Silent_p.K409K|TRERF1_uc003osc.2_Silent_p.K409K|TRERF1_uc003osd.2_Silent_p.K653K	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	653	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTGCCGGAACTTTTTCTTCT	0.617000														65			14		0	0	0.003163	0	0
EPRS	2058	broad.mit.edu	37	1	220170331	220170331	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:220170331G>A	uc001hly.1	-	17	2805	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Silent_p.S596S|EPRS_uc001hlz.1_Silent_p.S852S	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	845	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGACCTTAGGGGATTTTTCAG	0.388000														136			16		0	0	0.004990	0	0
MUC17	140453	broad.mit.edu	37	7	100686813	100686813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100686813C>T	uc003uxp.1	+	2	12169	c.12116C>T	c.(12115-12117)tCt>tTt	p.S4039F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4039						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCTACTTCTGTCACCACC	0.532000														126			8		0	0	0.004482	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35826156C>T	uc010mlc.2	-	1	288	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.M1I	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			5		0	0	0.001168	0	0
NCOA6	23054	broad.mit.edu	37	20	33364247	33364247	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:33364247G>A	uc002xav.3	-	4	2811	c.240C>T	c.(238-240)tcC>tcT	p.S80S	NCOA6_uc002xaw.3_Silent_p.S80S|NCOA6_uc021wcd.1_Silent_p.S80S|NCOA6_uc021wce.1_Silent_p.S80S|NCOA6_uc021wcf.1_Silent_p.S80S|NCOA6_uc010gew.1_Silent_p.S80S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	80	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTAGCTTGCTGGACTCTTGAT	0.438000														28			8		0	0	0.006214	0	0
ENAM	10117	broad.mit.edu	37	4	71503549	71503549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:71503549G>A	uc011caw.1	+	7	858	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	193					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAGCAATGAAGAAGGGGG	0.423000														118			10		0	0	0.010729	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597589	31597589	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31597589C>A	uc003nvb.4	+	13	2470	c.2221C>A	c.(2221-2223)Cta>Ata	p.L741I	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.L741I	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	741	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCGTCCCCCTCTAGACTTCTA	0.577000														69			9		0.000673444	0.000696377	0.008291	1	0
TREM2	54209	broad.mit.edu	37	6	41129230	41129230	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41129230C>T	uc003opz.2	-	1	264	c.252G>A	c.(250-252)ctG>ctA	p.L84L	TREM2_uc003opy.2_Silent_p.L54L|TREM2_uc010jxl.1_Silent_p.L84L			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	54	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTCTCTCCCAGCTGGCGGC	0.632000														38			5		0	0	0.000602	0	0
FYCO1	79443	broad.mit.edu	37	3	46009314	46009314	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:46009314C>T	uc011bal.1	-	6	1624	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	FYCO1_uc003cpb.4_Silent_p.L504L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	504					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCCTGCTCCAGCAGCTCCT	0.607000														78			9		0	0	0.010729	0	0
ZFP106	64397	broad.mit.edu	37	15	42743035	42743035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42743035G>A	uc001zpw.3	-	1	1693	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P239S|ZFP106_uc001zpy.1_Missense_Mutation_p.P479S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	456						nucleolus	zinc ion binding	p.L455F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCTGGACATGGAAGGAGTGGG	0.423000														148			15		0	0	0.004007	0	0
STK33	65975	broad.mit.edu	37	11	8496347	8496347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:8496347G>A	uc001mgi.1	-	0	1025	c.106C>T	c.(106-108)Cca>Tca	p.P36S	STK33_uc001mgj.1_Missense_Mutation_p.P36S|STK33_uc001mgk.1_Missense_Mutation_p.P36S|STK33_uc010rbn.1_5'UTR|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	36						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACCAAAACTGGAGGAACCCTT	0.373000														78			18		0	0	0.008871	0	0
TRPM8	79054	broad.mit.edu	37	2	234839327	234839327	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234839327T>C	uc002vvh.3	+	2	172	c.132T>C	c.(130-132)ttT>ttC	p.F44F	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_5'UTR|TRPM8_uc002vvj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	44						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGTGAATTTTATTCAAGCAA	0.348000														44			4		0	0	0.001168	0	0
RFPL1	5988	broad.mit.edu	37	22	29838060	29838060	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29838060G>A	uc003afn.3	+	1	1112	c.903G>A	c.(901-903)gtG>gtA	p.V301V	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	301	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCTGTCCTGTGATAAACCCGG	0.463000														61			6		0	0	0.001984	0	0
CHD9	80205	broad.mit.edu	37	16	53190396	53190396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:53190396C>T	uc002ehb.3	+	0	559	c.395C>T	c.(394-396)aCc>aTc	p.T132I	CHD9_uc002egy.3_Missense_Mutation_p.T132I|CHD9_uc002egz.1_Missense_Mutation_p.T132I|CHD9_uc002ehc.3_Missense_Mutation_p.T132I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	132					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCTACTACCATTTCAAAT	0.408000														114			12		0	0	0.001855	0	0
DEFB119	245932	broad.mit.edu	37	20	29966185	29966185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:29966185C>T	uc002wvs.3	-	1	191	c.71G>A	c.(70-72)aGg>aAg	p.R24K	DEFB119_uc002wvt.3_Intron	NM_173460	NP_775689	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 2, mRNA.	24					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)			tcccactgtcctcaccagagc	0.483000														65			10		0	0	0.006214	0	0
DEPDC5	9681	broad.mit.edu	37	22	32218690	32218690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32218690C>T	uc011alu.2	+	23	2220	c.2018C>T	c.(2017-2019)tCc>tTc	p.S673F	DEPDC5_uc011als.2_Intron|DEPDC5_uc003als.3_Missense_Mutation_p.S673F|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Missense_Mutation_p.S673F|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Missense_Mutation_p.S113F|DEPDC5_uc011alw.1_5'UTR|DEPDC5_uc011alt.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	673					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAGCAATTCCCGCCAGCCT	0.542000														39			4		0	0	0.009096	0	0
SYCP1	6847	broad.mit.edu	37	1	115454199	115454199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:115454199G>A	uc001efr.3	+	17	1734	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E509K|SYCP1_uc009wgw.3_Missense_Mutation_p.E509K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	509				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(1)	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)		GCTTGAAAACGAGAAGTATGT	0.249000														11			4		0	0	0.009096	0	0
ANPEP	290	broad.mit.edu	37	15	90335696	90335696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:90335696G>A	uc002bop.4	-	16	2639	c.2347C>T	c.(2347-2349)Ccc>Tcc	p.P783S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	783	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTATTATTGGGGTTCTCCATC	0.592000														33			4		0	0	0.009096	0	0
LAMC2	3918	broad.mit.edu	37	1	183212290	183212290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:183212290C>T	uc001gqa.2	+	22	3651	c.3337C>T	c.(3337-3339)Ctc>Ttc	p.L1113F		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1113	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGACCAGCCTCTCAGTGTAGA	0.483000														62			7		0	0	0.001984	0	0
HADHB	3032	broad.mit.edu	37	2	26501645	26501645	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:26501645C>T	uc002rgz.3	+	7	857	c.606C>T	c.(604-606)ttC>ttT	p.F202F	HADHB_uc010ykv.2_Silent_p.F180F|HADHB_uc010ykw.2_Silent_p.F187F|HADHB_uc010ykx.2_Silent_p.F128F	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	202					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTAAATTCCGATTTAATT	0.443000														56			8		0	0	0.004482	0	0
APOO	79135	broad.mit.edu	37	X	23897068	23897068	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:23897068G>A	uc004dax.3	-	2	439	c.201C>T	c.(199-201)ctC>ctT	p.L67L	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	67					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AATAGTGTCGGAGCTGTGAGA	0.463000														21			20		0	0	0.012319	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120449	38120449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:38120449C>T	uc003atr.3	+	6	2157	c.1886C>T	c.(1885-1887)gCc>gTc	p.A629V	TRIOBP_uc003atu.3_Missense_Mutation_p.A457V|TRIOBP_uc003atq.1_Missense_Mutation_p.A629V|TRIOBP_uc003ats.1_Missense_Mutation_p.A457V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	629					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACATCCTGTGCCCAGCGGGAC	0.597000														52			11		0	0	0.013537	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				82			8		0	0	0.006214	0	0
OR2J2	26707	broad.mit.edu	37	6	29142318	29142318	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29142318G>A	uc011dlm.2	+	0	1008	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGGGGCAGCGAAGAGACTAT	0.453000														84			8		0	0	0.003080	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188446	37188446	+	RNA	SNP	G	A	A	rs35288784		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:37188446G>A	uc002hrd.1	+	0		c.2288G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AAACCTGACTGAAGTCACAGG	0.478000														95			15		0	0	0.004007	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625943	20625943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:20625943C>T	uc001mqd.3	+	2	925	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	SLC6A5_uc009yic.3_Intron	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	218					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGGAGGTTTCCCTACCTGGC	0.637000														111			9		0	0	0.008291	0	0
FAM193A	8603	broad.mit.edu	37	4	2701828	2701828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2701828C>T	uc010ick.3	+	17	3657	c.3656C>T	c.(3655-3657)cCc>cTc	p.P1219L	FAM193A_uc003gfd.3_Missense_Mutation_p.P1019L|FAM193A_uc011bvm.2_Missense_Mutation_p.P1041L|FAM193A_uc011bvn.2_Missense_Mutation_p.P1019L|FAM193A_uc010icl.3_Missense_Mutation_p.P1019L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P873L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1019										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTTCTCCTCCCCAAGGAGGTG	0.547000														71			14		0	0	0.001855	0	0
DECR2	26063	broad.mit.edu	37	16	461398	461398	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:461398C>T	uc002chb.3	+	7	805	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DECR2_uc002chc.3_Silent_p.A149A|DECR2_uc002chd.3_Silent_p.A149A|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	233						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AGGTCACTGCCAGCCCGCTGC	0.692000														50			5		0	0	0.001168	0	0
OR14C36	127066	broad.mit.edu	37	1	248512664	248512664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248512664G>A	uc010pzl.2	+	0	588	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V195I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATGAGGTCATGATTGTTGTCT	0.493000														65			6		0	0	0.001168	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687059	68687059	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:68687059T>C	uc001jmz.1	+	1	935	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.F129L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	129						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAACAATACCTTCAGACCTGT	0.403000														81			22		0	0	0.014323	0	0
OR5K2	402135	broad.mit.edu	37	3	98216810	98216810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:98216810G>A	uc011bgx.2	+	0	286	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCCCTCTATGAATGTGCAGT	0.463000														92			8		0	0	0.004482	0	0
FMN2	56776	broad.mit.edu	37	1	240255934	240255934	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:240255934C>T	uc010pye.2	+	0	750	c.525C>T	c.(523-525)acC>acT	p.T175T	FMN2_uc010pyd.2_Silent_p.T175T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	175					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)			GACAAAGGACCAGCTCGGGCT	0.647000														49			6		0	0	0.001168	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900492	117900492	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:117900492G>A	uc004eqs.3	+	7	872	c.829_splice	c.e7-1	p.V277_splice		NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	277						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ttattttCAAGGTCCAAGAGG	0.333000														18			4		0	0	0.009096	0	0
KCNK5	8645	broad.mit.edu	37	6	39162536	39162536	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39162536C>T	uc003oon.3	-	3	663	c.299_splice	c.e3-1	p.G100_splice		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	100					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ATTGCCATATCCTGAGGAAGG	0.557000														60			7		0	0	0.001984	0	0
TET1	80312	broad.mit.edu	37	10	70332849	70332849	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:70332849T>G	uc001jok.4	+	1	1259	c.754T>G	c.(754-756)Ttt>Gtt	p.F252V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	252					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTGTGCTCCTTTTCCCCAAAG	0.458000														41			8		0	0	0.003080	0	0
ISG20L2	81875	broad.mit.edu	37	1	156694055	156694055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156694055G>A	uc001fps.1	-	1	1094	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ISG20L2_uc001fpt.1_Missense_Mutation_p.S278F	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	278	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGGGTGAGGGACTTGGGGTG	0.542000														62			9		0	0	0.006214	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925124	54925124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54925124C>T	uc001sgc.4	+	22	2666	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	NCKAP1L_uc010sox.2_Nonsense_Mutation_p.Q405*|NCKAP1L_uc010soy.2_Nonsense_Mutation_p.Q813*	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	863					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.Q863*(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTGACCTCTCAGATTGTGGA	0.512000														177			15		0	0	0.004990	0	0
FLG2	388698	broad.mit.edu	37	1	152326405	152326405	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152326405T>C	uc001ezw.4	-	2	3930	c.3857A>G	c.(3856-3858)cAc>cGc	p.H1286R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1286	Ser-rich.						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)			TGAATGTCTGTGTGAGACCTT	0.478000														229			20		0	0	0.008871	0	0
KRT12	3859	broad.mit.edu	37	17	39019844	39019844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39019844C>T	uc002hvk.2	-	4	1012	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	330	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTGCTAATCTCCTTACGGAGC	0.577000														28			4		0	0	0.000602	0	0
RGS8	85397	broad.mit.edu	37	1	182617422	182617422	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:182617422G>A	uc010pnw.1	-	5	468	c.210C>T	c.(208-210)ttC>ttT	p.F70F	RGS8_uc001gpn.1_Silent_p.F70F|RGS8_uc001gpm.1_Silent_p.F88F	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	70	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGAAGGCACGGAATGCAGCCA	0.463000														148			28		0	0	0.007291	0	0
CAPN9	10753	broad.mit.edu	37	1	230914722	230914722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:230914722G>A	uc001htz.1	+	8	1070	c.957G>A	c.(955-957)atG>atA	p.M319I	CAPN9_uc009xfg.1_Missense_Mutation_p.M256I|CAPN9_uc001hua.1_Missense_Mutation_p.M293I	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	319	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.A319T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCTGCAGGATGGCATTTAAGG	0.483000														25			6		0	0	0.001984	0	0
RGPD3	653489	broad.mit.edu	37	2	107041599	107041599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:107041599C>T	uc010ywi.1	-	19	2881	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	942					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTATCATTTTCAAGAGGCTTT	0.418000														212			51		0	0	0.014410	0	0
SORCS3	22986	broad.mit.edu	37	10	106959853	106959853	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:106959853G>A	uc001kyi.1	+	14	2333	c.2106G>A	c.(2104-2106)caG>caA	p.Q702Q	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	702						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACTATCAGACCTGGCACC	0.527000														49			5		0	0	0.000602	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889306	139889306	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:139889306A>C	uc003lfs.2	+	20	4004	c.3850A>C	c.(3850-3852)Aat>Cat	p.N1284H	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.N1303H|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.N1284H|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.N495H|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.N764H|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.N361H|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.N23H|ANKHD1-EIF4EBP3_uc003lfw.3_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1284						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)			AGCAGATGTTAATGCTCCCCC	0.438000														23			13		0	0	0.002450	0	0
C6orf25	80739	broad.mit.edu	37	6	31691464	31691464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31691464G>A	uc011doc.2	+	1	150	c.110G>A	c.(109-111)gGa>gAa	p.G37E	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Missense_Mutation_p.G37E|C6orf25_uc003nwk.3_Missense_Mutation_p.G37E|C6orf25_uc011dod.2_Missense_Mutation_p.G37E|C6orf25_uc003nwn.3_Missense_Mutation_p.G37E|C6orf25_uc011doe.2_Missense_Mutation_p.G37E|C6orf25_uc003nwo.3_Missense_Mutation_p.G37E	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	37						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCCTGCGGAGGAGTCTCTCAT	0.672000														157			7		0	0	0.004482	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42282377	42282377	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42282377G>A	uc021sjp.1	-	13	1527	c.1527C>T	c.(1525-1527)ccC>ccT	p.P509P	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.P133P	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	497	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGATGGGCAGGGGGTTCTGGC	0.517000														146			31		0	0	0.013726	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318979	40318979	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:40318979G>A	uc002omj.3	-	5	1045	c.765C>T	c.(763-765)atC>atT	p.I255I	DYRK1B_uc002omi.3_Silent_p.I255I|DYRK1B_uc002omk.3_Silent_p.I255I	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	255	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCACAATCTTGATGGCGCTGC	0.622000														20			12		0	0	0.001855	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797680	106797680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:106797680C>T	uc003vdx.3	+	9	1209	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	345					G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GCTCGATGCTCGCGGGGACAG	0.458000														35			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179474925	179474925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179474925C>T	uc021vsy.1	-	219	43849	c.43624G>A	c.(43624-43626)Gat>Aat	p.D14542N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D8237N|TTN_uc021vta.1_Missense_Mutation_p.D8170N|TTN_uc021vtb.1_Missense_Mutation_p.D8045N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15469	Fibronectin type-III 5.						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)			GGTATGAGATCCTTCACAGTC	0.423000														140			12		0	0	0.010729	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356976	104356976	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104356976G>A	uc004bbr.3	-	0	308	c.237C>T	c.(235-237)atC>atT	p.I79I	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	76	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGGTCCCCAGGATGAATTCCT	0.552000														62			9		0	0	0.006214	0	0
MAPK14	1432	broad.mit.edu	37	6	36020501	36020501	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36020501T>A	uc003olq.3	+	1	623	c.142T>A	c.(142-144)Tta>Ata	p.L48I	MAPK14_uc011dth.2_Missense_Mutation_p.L48I|MAPK14_uc003olo.3_Missense_Mutation_p.L48I|MAPK14_uc003olp.3_Missense_Mutation_p.L48I|MAPK14_uc003olr.3_Missense_Mutation_p.L48I|MAPK14_uc011dti.2_5'UTR	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	48	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AAAAACGGGGTTACGTGTGGC	0.383000														73			7		0	0	0.006214	0	0
CCL26	10344	broad.mit.edu	37	7	75399065	75399065	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:75399065C>T	uc003udt.1	-	3	339	c.231G>A	c.(229-231)agG>agA	p.R77R		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA.	77					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			lung(3)	3						CCCATTTTTTCCTTGGATGGG	0.438000														37			5		0	0	0.001168	0	0
LPHN2	23266	broad.mit.edu	37	1	82431755	82431755	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:82431755C>T	uc001dit.4	+	10	2161	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.A660A|LPHN2_uc001div.3_Silent_p.A660A|LPHN2_uc009wcd.3_Silent_p.A660A|LPHN2_uc001diw.3_Silent_p.A244A	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	673					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)		TGGAAGTTGCCGTACTCAGTA	0.433000														83			8		0	0	0.003080	0	0
FBN2	2201	broad.mit.edu	37	5	127674658	127674658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:127674658C>T	uc003kuu.3	-	25	3878	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	FBN2_uc003kuv.2_Missense_Mutation_p.E1114K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1147	EGF-like 16; 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)		AAGCCACTTTCATAGCCTTCG	0.507000														36			6		0	0	0.001168	0	0
MSL3	10943	broad.mit.edu	37	X	11790277	11790277	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:11790277C>T	uc004cuw.3	+	10	1389	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	MSL3_uc011mig.2_Silent_p.V279V|MSL3_uc011mih.2_Silent_p.V416V|MSL3_uc004cuy.3_Silent_p.V262V	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	428					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTCCAGGTCCTCTCCTGGA	0.448000														35			14		0	0	0.003163	0	0
KERA	11081	broad.mit.edu	37	12	91449715	91449715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91449715C>T	uc001tbl.3	-	1	963	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	115					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCTTAGGGCTCCTTTTTCAAT	0.388000														65			8		0	0	0.004482	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443584	5443584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5443584C>T	uc010qzd.2	+	0	244	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGTCATTCGCACAGAGCC	0.562000														117			28		0	0	0.003755	0	0
POLR3B	55703	broad.mit.edu	37	12	106824228	106824229	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106824228_106824229CC>TT	uc001tlp.3	+	13	1663_1664	c.1441_1442CC>TT	c.(1441-1443)cct>TTt	p.P481F	POLR3B_uc001tlq.3_Missense_Mutation_p.P423F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	481					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AATGCTGTGTCCTTCGGACACT	0.530000														41			7		0	0	0.004672	0	0
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:71619234C>T	uc003xyq.3	+	3	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Silent_p.F113F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	113						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358000														34			4		0	0	0.009096	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503147	51503147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:51503147C>T	uc001zyz.4	-	10	1621	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	CYP19A1_uc001zza.4_Missense_Mutation_p.R457Q	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	457					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.R457*(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CACGTGGAATCGTCTCAGAAG	0.473000														46			9		0	0	0.010729	0	0
DDX50	79009	broad.mit.edu	37	10	70673321	70673321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:70673321C>T	uc001jou.3	+	5	1039	c.932C>T	c.(931-933)tCc>tTc	p.S311F	DDX50_uc001jot.3_Missense_Mutation_p.S311F	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	311	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATTCATGAATCCTACAAAACT	0.313000														31			5		0	0	0.001168	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382511	56382511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56382511C>T	uc002ivx.4	-	29	6326	c.5455G>A	c.(5455-5457)Ggc>Agc	p.G1819S	BZRAP1_uc002ivv.3_Missense_Mutation_p.G49S|BZRAP1_uc002ivw.3_Missense_Mutation_p.G51S|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1759S|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1810S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1819	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACCAGGCCCCTTTGTCCA	0.622000														34			4		0	0	0.000602	0	0
MUC4	4585	broad.mit.edu	37	3	195515992	195515992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:195515992C>T	uc021xjp.1	-	1	2615	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G702E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	825	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)		GGTGGATATTCCTTCGCTTCC	0.582000														63			8		0	0	0.004482	0	0
WDR3	10885	broad.mit.edu	37	1	118499763	118499763	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:118499763C>T	uc010oxe.1	+	24	2592	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	842						nuclear membrane|nucleolus		p.E841K(2)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTAACGAATTCATTCAGCTGG	0.378000														88			22		0	0	0.014323	0	0
OTOF	9381	broad.mit.edu	37	2	26691294	26691294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:26691294C>T	uc002rhk.3	-	32	4199	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	OTOF_uc010yla.2_Missense_Mutation_p.E88K|OTOF_uc002rhh.3_Missense_Mutation_p.E591K|OTOF_uc002rhi.3_Missense_Mutation_p.E668K|OTOF_uc002rhj.3_Missense_Mutation_p.E591K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1358					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)					TTGTCCACTTCCTCCTTCTCC	0.567000														46			6		0	0	0.004482	0	0
MCOLN2	255231	broad.mit.edu	37	1	85405368	85405368	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:85405368G>A	uc001dkm.3	-	8	1219	c.978C>T	c.(976-978)ttC>ttT	p.F326F	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	326						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACTTCTCCAGGAAGAAATTTA	0.453000														42			4		0	0	0.001168	0	0
CCDC63	160762	broad.mit.edu	37	12	111336895	111336895	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111336895G>A	uc001trv.1	+	9	1503	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	CCDC63_uc010sye.1_Silent_p.G396G|CCDC63_uc001trw.1_Silent_p.G351G	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	436										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGGAGACGGGGAAAGTCACTG	0.473000														21			4		0	0	0.000602	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442339	41442339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:41442339G>A	uc010ehg.1	+	2	385	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.R126Q|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GTGCTTCGGCGATTCTCTGTG	0.547000														13			5		0	0	0.000602	0	0
CHD2	1106	broad.mit.edu	37	15	93482840	93482840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:93482840C>T	uc002bsp.3	+	6	1159	c.584C>T	c.(583-585)cCg>cTg	p.P195L	CHD2_uc002bsm.2_Missense_Mutation_p.P195L|CHD2_uc002bsn.3_Missense_Mutation_p.P195L|CHD2_uc002bso.1_Missense_Mutation_p.P195L|CHD2_uc010urb.2_Missense_Mutation_p.P208L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	195					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAAAGCAGCCGAAGACTCAG	0.413000														78			14		0	0	0.004007	0	0
SAV1	60485	broad.mit.edu	37	14	51132059	51132059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:51132059C>T	uc001wyh.1	-	1	711	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	125					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTCCATTTTCAACAGCAAAA	0.408000														25			5		0	0	0.001168	0	0
CEP70	80321	broad.mit.edu	37	3	138219580	138219580	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:138219580T>C	uc003esl.3	-	13	1563	c.1365A>G	c.(1363-1365)gaA>gaG	p.E455E	CEP70_uc011bmk.2_Silent_p.E435E|CEP70_uc011bml.2_Silent_p.E437E|CEP70_uc011bmm.2_Silent_p.E303E|CEP70_uc003esm.3_Silent_p.E455E	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	455					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTATTACCTTTTCCTTATTTT	0.313000														188			17		0	0	0.006122	0	0
OR5H14	403273	broad.mit.edu	37	3	97868560	97868560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:97868560G>A	uc003dsg.1	+	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTAACCACGGAATGTTTTCT	0.413000														132			14		0	0	0.004007	0	0
SEMA4F	10505	broad.mit.edu	37	2	74885033	74885033	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74885033C>T	uc002sna.1	+	3	522	c.411C>T	c.(409-411)ctC>ctT	p.L137L	SEMA4F_uc010ysb.1_Intron|SEMA4F_uc021vjn.1_Silent_p.L137L|SEMA4F_uc010ffq.1_Intron|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_Intron|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	137	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTCTCACCTCCTCACTTGTG	0.532000														75			13		0	0	0.002450	0	0
AP2B1	163	broad.mit.edu	37	17	33951501	33951501	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:33951501T>A	uc002hjr.3	+	5	800	c.611T>A	c.(610-612)aTt>aAt	p.I204N	AP2B1_uc002hjq.3_Missense_Mutation_p.I204N|AP2B1_uc010wci.2_Missense_Mutation_p.I166N|AP2B1_uc002hjs.3_Missense_Mutation_p.I147N|AP2B1_uc002hjt.3_Missense_Mutation_p.I204N|AP2B1_uc010ctv.3_Missense_Mutation_p.I204N|AP2B1_uc010wcj.2_5'UTR	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	204					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCACAGAACATTAATAAGCTG	0.473000														71			19		0	0	0.010504	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:79358832G>A	uc001diq.4	-	12	1948	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R598C(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000														37			5		0	0	0.001984	0	0
KLK7	5650	broad.mit.edu	37	19	51480880	51480880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51480880G>A	uc002puo.3	-	5	776	c.674C>T	c.(673-675)cCt>cTt	p.P225L	KLK7_uc002pup.3_Missense_Mutation_p.P225L|KLK7_uc021uyj.1_Missense_Mutation_p.P218L|KLK7_uc010eok.3_Missense_Mutation_p.P153L	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	225	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TTGGCCGCAAGGGAAAGTTCC	0.532000														46			8		0	0	0.004482	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128975808	128975808	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:128975808G>A	uc004euv.3	-	1	576	c.114C>T	c.(112-114)ttC>ttT	p.F38F	ZDHHC9_uc004euw.3_Silent_p.F38F|ZDHHC9_uc004eux.1_Silent_p.F38F|ZDHHC9_uc004euy.1_Intron	NM_001008222	NP_057116	Q9Y397	ZDHC9_HUMAN	Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA.	38						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGGTCAGGTAGAAAATGCCCT	0.498000														43			12		0	0	0.013537	0	0
IL1R2	7850	broad.mit.edu	37	2	102626047	102626047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102626047C>T	uc002tbm.3	+	2	320	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	IL1R2_uc002tbn.3_Missense_Mutation_p.R31C|IL1R2_uc002tbo.1_Missense_Mutation_p.R31C	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	31	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.F30I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGCCGGTTTCGTGGGAGGCA	0.612000														95			10		0	0	0.006214	0	0
TARS2	80222	broad.mit.edu	37	1	150469306	150469306	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150469306C>T	uc001euq.3	+	8	949	c.942C>T	c.(940-942)ttC>ttT	p.F314F	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Intron|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	314					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCTTCTTCTTCCATGAACTGA	0.537000														39			8		0	0	0.008291	0	0
NOS1	4842	broad.mit.edu	37	12	117660597	117660597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:117660597C>T	uc001twn.2	-	26	4711	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	NOS1_uc021ren.1_Missense_Mutation_p.E964K|NOS1_uc021reo.1_Missense_Mutation_p.E964K|NOS1_uc001twm.2_Missense_Mutation_p.E1300K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1300					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCAGGGTCTCTTCCCTGTAG	0.582000														78			10		0	0	0.008291	0	0
ZNF408	79797	broad.mit.edu	37	11	46723068	46723068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:46723068C>T	uc001nde.2	+	1	453	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	ARHGAP1_uc001ndd.3_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.2_Missense_Mutation_p.P50S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGAGCCTTCCCCGGGGCTT	0.667000														44			8		0	0	0.006214	0	0
BTBD11	121551	broad.mit.edu	37	12	108011173	108011173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:108011173G>A	uc001tmk.1	+	8	2712	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.D731N|BTBD11_uc001tml.1_Missense_Mutation_p.D268N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	731						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCCCAGGGTGATATGAACTC	0.512000														50			11		0	0	0.010729	0	0
CD1E	913	broad.mit.edu	37	1	158324390	158324390	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158324390G>A	uc001fse.3	+	1	575	c.282G>A	c.(280-282)caG>caA	p.Q94Q	CD1E_uc010pid.2_Silent_p.Q92Q|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.Q94Q|CD1E_uc001fsf.3_Silent_p.Q94Q|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Silent_p.Q94Q|CD1E_uc001fsk.3_Silent_p.Q94Q|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.Q94Q|CD1E_uc001frz.3_Silent_p.Q94Q|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	94					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAACTTACAGTCACTGTTCC	0.458000														22			8		0	0	0.003080	0	0
VIP	7432	broad.mit.edu	37	6	153075349	153075349	+	Silent	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:153075349T>A	uc003qpe.3	+	2	328	c.156T>A	c.(154-156)gtT>gtA	p.V52V	VIP_uc003qpf.3_Silent_p.V52V|VIP_uc010kjd.3_Silent_p.V52V	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	52					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTGATCAAGTTTCATTAAAAG	0.358000														35			9		0	0	0.004482	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616324	140616324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140616324C>T	uc003ljc.1	+	0	2387	c.2039C>T	c.(2038-2040)cCa>cTa	p.P680L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGTCCCTTTCCAGGGCATCTG	0.627000														52			23		0	0	0.014323	0	0
RHPN1	114822	broad.mit.edu	37	8	144463806	144463806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144463806G>A	uc003yyb.3	+	12	1686	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	543					signal transduction	intracellular		p.R518R(1)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCTGACCCGAGGAGAGGGC	0.711000														27			5		0	0	0.000602	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967308	142967308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:142967308C>T	uc004fca.3	+	0	136	c.106C>T	c.(106-108)Cat>Tat	p.H36Y		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	36							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTATTTTCATGTGGTCAT	0.498000														57			7		0	0	0.003080	0	0
DNAH3	55567	broad.mit.edu	37	16	21139089	21139089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21139089C>T	uc010vbe.2	-	7	1127	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	DNAH3_uc002die.2_Missense_Mutation_p.G347E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	376	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGCAATTTTCCCGCTAGTAT	0.458000														107			10		0	0	0.010729	0	0
OR10H1	26539	broad.mit.edu	37	19	15918161	15918161	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15918161G>A	uc002nbq.2	-	0	776	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I229M(2)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCAGAAGGGATCTTCAAGA	0.567000														37			4		0	0	0.003080	0	0
ASPN	54829	broad.mit.edu	37	9	95228677	95228677	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:95228677C>T	uc004ase.2	-	3	864	c.564G>A	c.(562-564)aaG>aaA	p.K188K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Silent_p.K188K	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	188	Interaction with TGFB1 (By similarity).				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGAATGTGTCCTTTTGTATTT	0.318000														36			5		0	0	0.001168	0	0
OR5T2	219464	broad.mit.edu	37	11	55999927	55999927	+	Silent	SNP	G	A	A	rs138680983	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55999927G>A	uc010rjc.2	-	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACCAGCTCGATAGAGCCCA	0.428000														66			6		0	0	0.001168	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921458	12921458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12921458G>A	uc001aum.1	+	3	1336	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	417										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCCTGAGGAGAGTTTGAA	0.537000														69			18		0	0	0.014323	0	0
NLRP4	147945	broad.mit.edu	37	19	56370434	56370434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56370434G>A	uc002qmd.4	+	2	2097	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	NLRP4_uc002qmf.3_Missense_Mutation_p.E484K|NLRP4_uc010etf.3_Missense_Mutation_p.E390K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	559							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTCTCTTTGAAATGCAGGA	0.473000														38			18		0	0	0.006122	0	0
RBM6	10180	broad.mit.edu	37	3	50102554	50102554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:50102554C>T	uc003cyc.3	+	15	2925	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	RBM6_uc010hlc.2_Missense_Mutation_p.P412S|RBM6_uc003cyd.3_Missense_Mutation_p.P371S|RBM6_uc011bdi.2_Missense_Mutation_p.P235S|RBM6_uc003cye.3_Missense_Mutation_p.P371S|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	893	Poly-Pro.				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGAGTCCCCCTCCAGTAAG	0.542000														44			7		0	0	0.001984	0	0
C17orf97	400566	broad.mit.edu	37	17	263309	263309	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:263309C>T	uc021tna.1	+	1	691	c.675C>T	c.(673-675)ttC>ttT	p.F225F	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	225	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TCAAGGGCTTCCACCCCGACC	0.701000														27			5		0	0	0.000602	0	0
SMTN	6525	broad.mit.edu	37	22	31493304	31493304	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:31493304C>T	uc003ajl.2	+	15	2380	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	SMTN_uc003ajk.2_Silent_p.S713S|SMTN_uc003ajm.2_Silent_p.S713S|SMTN_uc011ale.2_Silent_p.S798S|SMTN_uc011alf.2_Silent_p.S769S|SMTN_uc003ajn.2_Silent_p.S736S|SMTN_uc011alg.2_Silent_p.S169S|SMTN_uc003ajo.2_Silent_p.S236S|SMTN_uc010gwe.2_Silent_p.S93S	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	713	Poly-Ser.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTCTTCCTCCTCATCCAAGA	0.567000														70			6		0	0	0.001168	0	0
KERA	11081	broad.mit.edu	37	12	91449728	91449728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91449728C>T	uc001tbl.3	-	1	950	c.331G>A	c.(331-333)Gga>Aga	p.G111R		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	111					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTTTCAATTCCGTAGTTGGTT	0.393000														62			8		0	0	0.003080	0	0
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170136033G>A	uc002ues.3	-	11	1627	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_uc010zdf.1_Silent_p.L472L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACAGCCAGGTTCTCTGGG	0.353000														60			11		0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152281478	152281478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152281478C>T	uc001ezu.1	-	2	5920	c.5884G>A	c.(5884-5886)Gaa>Aaa	p.E1962K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1962	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)			GCTCTGTCTTCGTGATGGGAC	0.567000									Ichthyosis					322			31		0	0	0.012213	0	0
ANO2	57101	broad.mit.edu	37	12	5756932	5756932	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:5756932G>A	uc001qnm.2	-	15	1653	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	532						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.D526N(1)|p.R527C(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTAACCTGGGAAACGATCCT	0.438000														16			3		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179584942	179584942	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179584942C>T	uc021vsy.1	-	77	19920	c.19695G>A	c.(19693-19695)ggG>ggA	p.G6565G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G3226G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7492	Ig-like 47.						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)			CAACAGCATCCCCAATAAGGG	0.443000														41			4		0	0	0.000602	0	0
CACNA1B	774	broad.mit.edu	37	9	140968471	140968471	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140968471C>T	uc004cog.3	+	32	4949	c.4804C>T	c.(4804-4806)Ctg>Ttg	p.L1602L	CACNA1B_uc022bqn.1_Silent_p.L1602L|CACNA1B_uc004coi.3_Silent_p.L816L|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1604					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTACGTGTGTCTGCTCATTGC	0.652000														70			7		0	0	0.008291	0	0
UNC5B	219699	broad.mit.edu	37	10	73044576	73044576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:73044576C>T	uc001jro.3	+	2	855	c.404C>T	c.(403-405)tCc>tTc	p.S135F	UNC5B_uc001jrp.3_Missense_Mutation_p.S135F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	135	Ig-like.				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						GCCTGGAGCTCCGCGGGCACC	0.677000														34			14		0	0	0.003163	0	0
REV1	51455	broad.mit.edu	37	2	100055763	100055763	+	Silent	SNP	G	A	A	rs28382881	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:100055763G>A	uc002tad.3	-	5	725	c.513C>T	c.(511-513)atC>atT	p.I171I	REV1_uc002tac.3_Silent_p.I171I|REV1_uc002tae.1_Silent_p.I150I	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	171					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCTTAACGATGTGATTTC	0.299000								Direct reversal of damage						29			4		0	0	0.009096	0	0
TLR4	7099	broad.mit.edu	37	9	120475982	120475982	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:120475982A>T	uc004bjz.3	+	2	1867	c.1576A>T	c.(1576-1578)Aat>Tat	p.N526Y	TLR4_uc004bkb.3_Missense_Mutation_p.N326Y|TLR4_uc004bka.3_Missense_Mutation_p.N486Y	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	526					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCAGGTACTAAATATGAGCCA	0.428000														43			5		0	0	0.000602	0	0
HSPG2	3339	broad.mit.edu	37	1	22188579	22188579	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:22188579G>A	uc009vqd.3	-	37	4813	c.4773C>T	c.(4771-4773)ttC>ttT	p.F1591F	HSPG2_uc001bfj.3_Silent_p.F1590F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1590	Laminin EGF-like 10.				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)	AAAGCTCGCAGAACTCCCCTG	0.602000														48			13		0	0	0.001855	0	0
TACR3	6870	broad.mit.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104510988C>T	uc003hxe.1	-	4	1390	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	417						integral to plasma membrane	tachykinin receptor activity	p.D417N(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527000														104			38		0	0	0.010771	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033086	20033086	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:20033086G>A	uc002wrs.3	-	1	416	c.384C>T	c.(382-384)tcC>tcT	p.S128S	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.S116S	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAAACAAACAGGATCTCGGAA	0.582000														45			7		0	0	0.004482	0	0
CHD5	26038	broad.mit.edu	37	1	6169886	6169886	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6169886C>T	uc001amb.2	-	37	5658	c.5547G>A	c.(5545-5547)ggG>ggA	p.G1849G	CHD5_uc001alz.2_Silent_p.G706G|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1849					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGGCTTGTTCCCAGCAAGGG	0.682000														118			11		0	0	0.010729	0	0
ACOT2	10965	broad.mit.edu	37	14	74036061	74036061	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:74036061G>A	uc001xon.4	+	0	290	c.117G>A	c.(115-117)aaG>aaA	p.K39K	ACOT2_uc010tuc.2_Intron|ACOT2_uc001xom.3_Missense_Mutation_p.E5K	NM_006821	NP_006812	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 2 (ACOT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	39					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGAGCCTGAAGAGTTCGGCGC	0.582000														89			15		0	0	0.003163	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512998	69512998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69512998C>T	uc021xow.1	-	5	1575	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	473					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGCTTGGCTCCTTTGTGGCGC	0.483000														89			20		0	0	0.012319	0	0
NDOR1	27158	broad.mit.edu	37	9	140110460	140110460	+	Silent	SNP	C	T	T	rs151243461		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140110460C>T	uc004clx.3	+	11	1656	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	NDOR1_uc004clw.3_Silent_p.S515S|NDOR1_uc011mes.2_Silent_p.S508S|NDOR1_uc004cly.3_Silent_p.S481S	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	515					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding	p.F514L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGCCTTCTCCCGGGAACAGG	0.607000														90			12		0	0	0.013537	0	0
AGBL1	123624	broad.mit.edu	37	15	86940638	86940638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86940638G>A	uc002blz.1	+	16	2358	c.2278G>A	c.(2278-2280)Gga>Aga	p.G760R		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	760					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTTCATCCAGGAGAGAGCAA	0.433000														30			4		0	0	0.009096	0	0
NOC4L	79050	broad.mit.edu	37	12	132636059	132636059	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:132636059C>T	uc001ujz.1	+	11	1145	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	368					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TGGCCGCCTTCGCCAAGCGGC	0.721000														19			4		0	0	0.000602	0	0
C1orf173	127254	broad.mit.edu	37	1	75038412	75038412	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:75038412C>T	uc001dgg.3	-	13	3201	c.2982G>A	c.(2980-2982)ttG>ttA	p.L994L		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	994	Glu-rich.							p.R993S(1)		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						TGAAGGGGCTCAAGCGTGTTT	0.532000														44			11		0	0	0.008291	0	0
FLT1	2321	broad.mit.edu	37	13	29001962	29001962	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:29001962C>T	uc001usb.3	-	8	1488	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	FLT1_uc010aar.1_Silent_p.G401G|FLT1_uc001usc.3_Silent_p.G401G|FLT1_uc010tdp.1_Silent_p.G401G|HV303168_uc021rhp.1_5'Flank	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	401	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.G401E(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTGTATAATTCCCTGCATCCT	0.393000														41			11		0	0	0.010729	0	0
F13B	2165	broad.mit.edu	37	1	197009662	197009662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197009662G>A	uc001gtt.1	-	10	1986	c.1942C>T	c.(1942-1944)Cca>Tca	p.P648S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	648					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						CTTTGTCTTGGAATACATCTT	0.299000														43			5		0	0	0.001984	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:5915235C>T	uc001qnm.2	-	8	1033	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	326						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTCATATCGTCCTCTGGA	0.478000														40			6		0	0	0.001984	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338074	39338075	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39338074_39338075CC>TT	uc021uuh.1	-	2	279	c.268_splice	c.e2-1	p.E90_splice	HNRNPL_uc021uui.1_Splice_Site	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	90					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCGTAGTTCTCCTGAGAAAGGA	0.505000														38			8		0	0	0.004672	0	0
UBR2	23304	broad.mit.edu	37	6	42637833	42637833	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42637833C>T	uc011dur.2	+	34	4183	c.3885C>T	c.(3883-3885)atC>atT	p.I1295I	UBR2_uc011dus.2_Silent_p.I940I|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1295					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACTTCAGGATCCCTTATTCTG	0.378000														34			5		0	0	0.000602	0	0
CEL	1056	broad.mit.edu	37	9	135945962	135945962	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:135945962C>T	uc010naa.1	+	9	1426	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	467					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGAAGCCCTTCGCCACCCCCA	0.582000														438			43		0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10920131	10920131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10920131C>T	uc002yip.1	-	18	1491	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D357N|TPTE_uc002yir.1_Missense_Mutation_p.D337N|TPTE_uc010gkv.1_Missense_Mutation_p.D237N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	375	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D357H(1)|p.D375H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGTTTTATCTGTTCGCCTT	0.383000														42			4		0	0	0.000602	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107361157C>T	uc011lvp.2	-	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000														74			19		0	0	0.007413	0	0
KCNB2	9312	broad.mit.edu	37	8	73848257	73848257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:73848257G>A	uc003xzb.3	+	2	1255	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	223					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAAACGGACGAATTTGGACA	0.478000														81			26		0	0	0.003330	0	0
CCDC13	152206	broad.mit.edu	37	3	42784515	42784515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:42784515C>T	uc003cly.4	-	7	944	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	287										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGACTGGCTCCGGGCCTGGCC	0.547000														110			38		0	0	0.009718	0	0
CEP192	55125	broad.mit.edu	37	18	13055828	13055829	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:13055828_13055829CC>TT	uc010xac.2	+	18	3319_3320	c.3239_3240CC>TT	c.(3238-3240)gcc>gTT	p.A1080V	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A605V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.A821V	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	675										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCAGTCCAGCCGCATTGGAGG	0.351000														35			7		0	0	0.004672	0	0
GSTA5	221357	broad.mit.edu	37	6	52696655	52696655	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:52696655G>A	uc003pba.1	-	6	730	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	220					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATTAAAACCTGAAAATCTTCC	0.448000														67			12		0	0	0.013537	0	0
KCNA1	3736	broad.mit.edu	37	12	5021486	5021486	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:5021486C>T	uc001qnh.3	+	1	2047	c.942C>T	c.(940-942)atC>atT	p.I314I	KCNA1_uc021qts.1_Silent_p.I314I	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	314					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTCCAGATCCTGGGCCAGA	0.547000														46			5		0	0	0.000602	0	0
OR4N2	390429	broad.mit.edu	37	14	20295961	20295961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20295961G>A	uc010tkv.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	118					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)		TTGTTGTGATGGCCTTTGACC	0.517000														163			19		0	0	0.006122	0	0
ACTL6A	86	broad.mit.edu	37	3	179287619	179287619	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:179287619T>C	uc003fjw.3	+	1	206	c.33T>C	c.(31-33)gtT>gtC	p.V11V	ACTL6A_uc003fjx.3_5'UTR|ACTL6A_uc003fjy.3_5'UTR	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	11					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAGATGAAGTTGGAGCCCTTG	0.408000														48			14		0	0	0.002450	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967070	64967070	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64967070T>C	uc001jmn.3	-	9	4659	c.4359A>G	c.(4357-4359)acA>acG	p.T1453T	JMJD1C_uc001jml.3_Silent_p.T1234T|JMJD1C_uc001jmm.3_Silent_p.T1165T|JMJD1C_uc010qiq.2_Silent_p.T1271T|JMJD1C_uc009xpi.3_Silent_p.T1271T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Silent_p.T490T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1453					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAACTGGTGCTGTGGTGCTGA	0.413000														86			23		0	0	0.006320	0	0
LRP2	4036	broad.mit.edu	37	2	170044544	170044544	+	Silent	SNP	G	A	A	rs143637076		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170044544G>A	uc002ues.3	-	48	9477	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3088	LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.I3088I(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATCATCTCGATGCAGCGCC	0.512000														56			11		0	0	0.013537	0	0
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47646785G>A	uc010jzj.1	+	3	387	c.386G>A	c.(385-387)gGa>gAa	p.G129E	GPR111_uc003oyy.3_Missense_Mutation_p.G61E	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	129					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						GACACTCAGGGAAATATGGGG	0.458000														30			10		0	0	0.008291	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92669355	92669355	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:92669355C>T	uc002bqx.2	+	5	1440	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	SLCO3A1_uc002bqy.2_Silent_p.L413L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.L355L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	413					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGAAGAAGCTCAGCCTGTCTG	0.587000														62			9		0	0	0.004482	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556757	27556757	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:27556757G>A	uc002dov.2	-	1	349	c.309C>T	c.(307-309)atC>atT	p.I103I	GTF3C1_uc002dou.3_Silent_p.I103I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	103						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						TATTCTCTAAGATCATATGAA	0.443000														33			14		0	0	0.002450	0	0
DESI2	51029	broad.mit.edu	37	1	244852572	244852572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:244852572C>T	uc001iao.3	+	2	401	c.137C>T	c.(136-138)cCt>cTt	p.P46L	DESI2_uc001iap.3_Intron	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	Homo sapiens PPPDE peptidase domain containing 1 (PPPDE1), mRNA.	46	PPPDE peptidase.																GGTGGCCATCCTTACCCCTTT	0.303000														135			14		0	0	0.007413	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878938	131878938	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:131878938C>T	uc003vra.4	-	14	2968	c.2739_splice	c.e14-1	p.Q913_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	913	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACACACGATCCTGCAGGGAG	0.602000														74			7		0	0	0.003080	0	0
C6orf162	57150	broad.mit.edu	37	6	88046852	88046852	+	Missense_Mutation	SNP	C	T	T	rs138742161		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:88046852C>T	uc003plp.1	+	2	192	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Missense_Mutation_p.R35C	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	35						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		AACCTTATTTCGTGCTGTGAA	0.433000														48			11		0	0	0.008291	0	0
ACE	1636	broad.mit.edu	37	17	61558931	61558931	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61558931G>A	uc002jau.2	+	6	984	c.950G>A	c.(949-951)tGg>tAg	p.W317*	ACE_uc010wpi.2_Nonsense_Mutation_p.W317*|ACE_uc010ddu.2_Nonsense_Mutation_p.W134*	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	317	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCAGGGCTGGAACGCCACG	0.657000														21			5		0	0	0.000602	0	0
RFX5	5993	broad.mit.edu	37	1	151314893	151314894	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151314893_151314894GG>AA	uc001exv.1	-	10	1833_1834	c.1619_1620CC>TT	c.(1618-1620)tcc>tTT	p.S540F	RFX5_uc001exw.1_Missense_Mutation_p.S540F|RFX5_uc010pcx.1_Missense_Mutation_p.S500F	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	540						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCCTCCTTTGGAAACAGTACC	0.569000														102			32		0	0	0.004672	0	0
HEATR4	399671	broad.mit.edu	37	14	73985814	73985814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:73985814C>T	uc021rwe.1	-	4	1471	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	HEATR4_uc021rwf.1_Missense_Mutation_p.E328K|HEATR4_uc010tub.1_Missense_Mutation_p.E375K	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTTAGGTTTTCCAGGACAATC	0.453000														52			11		0	0	0.013537	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108921	2108921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2108921C>T	uc003slh.1	-	11	1392	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	MAD1L1_uc003sle.1_Missense_Mutation_p.V105I|MAD1L1_uc003slf.1_Missense_Mutation_p.V376I|MAD1L1_uc003slg.1_Missense_Mutation_p.V376I|MAD1L1_uc010ksh.1_Missense_Mutation_p.V376I|MAD1L1_uc003sli.1_Missense_Mutation_p.V284I|MAD1L1_uc010ksi.1_Missense_Mutation_p.V329I|MAD1L1_uc010ksj.3_Missense_Mutation_p.V376I	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	376					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGCCGCTGACCTGCCGGAGC	0.652000														23			4		0	0	0.009096	0	0
EFCAB5	374786	broad.mit.edu	37	17	28378158	28378158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:28378158G>A	uc002het.3	+	8	1415	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	EFCAB5_uc010wbi.1_Missense_Mutation_p.R151K|EFCAB5_uc010wbj.2_Missense_Mutation_p.R352K|EFCAB5_uc010wbk.2_Missense_Mutation_p.R65K|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.R287K|EFCAB5_uc010csf.3_Missense_Mutation_p.R287K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	408							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCGGCAGAGGACATTGGCC	0.418000														49			6		0	0	0.006214	0	0
CUX2	23316	broad.mit.edu	37	12	111786100	111786100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111786100C>T	uc001tsa.2	+	21	4586	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1478						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCTGCCAATCGGGAGGAGGC	0.572000														60			8		0	0	0.006214	0	0
EPO	2056	broad.mit.edu	37	7	100320646	100320646	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100320646C>T	uc003uwi.3	+	4	653	c.472C>T	c.(472-474)Cga>Tga	p.R158*	EPO_uc011kkc.1_Nonsense_Mutation_p.R157*	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	158					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	p.R158R(2)		central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGCTCCACTCCGAACAATCAC	0.562000														119			11		0	0	0.008291	0	0
AX747261	0	broad.mit.edu	37	9	99884366	99884366	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:99884366G>A	uc004aww.1	-	1		c.1428C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		GGCCACAGAGGACAGTGCCCC	0.592000														12			3		0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	21053493	21053493	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21053493G>A	uc010vbe.2	-	31	4494	c.4494C>T	c.(4492-4494)atC>atT	p.I1498I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1498	AAA 1 (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)		GGATGCTGAGGATCTGCTGAG	0.517000														70			7		0	0	0.001984	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707488	37707488	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:37707488G>A	uc004aag.1	+	2	221	c.177G>A	c.(175-177)aaG>aaA	p.K59K	FRMPD1_uc004aah.1_Silent_p.K59K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	59	PDZ.					cytoskeleton|cytosol|plasma membrane				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)		ACACAGTAAAGATAGACAAAG	0.517000														71			5		0	0	0.001168	0	0
KL	9365	broad.mit.edu	37	13	33635004	33635004	+	Silent	SNP	C	T	T	rs141133607		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:33635004C>T	uc001uus.3	+	3	1796	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	596	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCGCTTCTCCCTGGACTGGG	0.532000														63			11		0	0	0.010729	0	0
ABCB5	340273	broad.mit.edu	37	7	20738148	20738148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:20738148C>T	uc010kuh.3	+	16	2366	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	ABCB5_uc003suw.4_Missense_Mutation_p.S265F	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	265	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.A709S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCAGTATTTTCCATCATCTTT	0.323000														29			5		0	0	0.000602	0	0
SCN4A	6329	broad.mit.edu	37	17	62018440	62018440	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:62018440G>A	uc002jds.1	-	23	5279	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1734	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGCCCTCTGGATCTTGATGG	0.622000														65			9		0	0	0.006214	0	0
SRPX2	27286	broad.mit.edu	37	X	99919867	99919868	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:99919867_99919868GT>AG	uc004egb.3	+	4	932_933	c.452_453GT>AG	c.(451-453)agt>aAG	p.S151K		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	151	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCTGTTCCAGTGGCTACCACC	0.520000														9			3		0	0	0.004672	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301742	145301742	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145301742C>T	uc021oul.1	+	6	1046	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L337L|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Silent_p.L66L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	337										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCAAAGACCTCATAAAATTTA	0.522000														312			38		0	0	0.014410	0	0
CADPS	8618	broad.mit.edu	37	3	62518605	62518605	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:62518605G>A	uc003dll.2	-	12	2592	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	CADPS_uc003dlk.1_Silent_p.I248I|CADPS_uc003dlm.2_Silent_p.I744I|CADPS_uc003dln.2_Silent_p.I727I|CADPS_uc021wzv.1_Silent_p.I744I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	744					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I744I(3)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGTGGGGTCGATCATGGCGC	0.517000														49			6		0	0	0.001168	0	0
CACNA1D	776	broad.mit.edu	37	3	53757872	53757872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:53757872C>T	uc003dgv.4	+	13	2109	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	CACNA1D_uc003dgu.4_Missense_Mutation_p.S669F|CACNA1D_uc003dgy.4_Missense_Mutation_p.S649F|CACNA1D_uc003dgw.4_Missense_Mutation_p.S316F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	649					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCCATGAAGTCCATCGCTTCG	0.448000														82			6		0	0	0.001168	0	0
LAMB4	22798	broad.mit.edu	37	7	107746957	107746957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:107746957G>A	uc010ljo.1	-	6	736	c.652C>T	c.(652-654)Caa>Taa	p.Q218*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q218*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	218	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCATACCTTGGATGTAGGGG	0.279000														17			8		0	0	0.008291	0	0
DUSP10	11221	broad.mit.edu	37	1	221913028	221913028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:221913028G>A	uc001hmy.2	-	1	296	c.59C>T	c.(58-60)cCt>cTt	p.P20L	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	20					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R19*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GAGATCCTGAGGTCGGACGGG	0.532000														80			14		0	0	0.002450	0	0
MME	4311	broad.mit.edu	37	3	154802065	154802065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:154802065C>T	uc010hvr.1	+	1	320	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F	MME_uc003fab.1_Missense_Mutation_p.L37F|MME_uc003fac.1_Missense_Mutation_p.L37F|MME_uc003fad.1_Missense_Mutation_p.L37F|MME_uc003fae.1_Missense_Mutation_p.L37F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	37					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCTTGTCCTGCTCCTCACCAT	0.468000														84			7		0	0	0.003080	0	0
LILRB1	10859	broad.mit.edu	37	19	55144767	55144767	+	Missense_Mutation	SNP	C	T	T	rs148543880		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55144767C>T	uc002qgj.3	+	7	1599	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.S420L|LILRB1_uc002qgk.3_Missense_Mutation_p.S420L|LILRB1_uc002qgm.3_Missense_Mutation_p.S420L|LILRB1_uc010erq.3_Missense_Mutation_p.S420L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	420					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S420L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTCGTGGTCTCAGGTGGGGGC	0.637000										HNSCC(37;0.09)				40			16		0	0	0.006122	0	0
DNAH3	55567	broad.mit.edu	37	16	20975047	20975047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20975047C>T	uc010vbe.2	-	52	10159	c.10159G>A	c.(10159-10161)Gaa>Aaa	p.E3387K	DNAH3_uc010vbd.2_Missense_Mutation_p.E822K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E3387*(3)|p.K3386K(1)		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)		TCCGTAATTTCCTTCTTCTGT	0.517000														39			4		0	0	0.000602	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959823	102959823	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102959823G>A	uc002tbu.1	+	7	1189	c.918G>A	c.(916-918)ctG>ctA	p.L306L	IL1RL1_uc010ywa.2_Silent_p.L189L|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.L306L	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	306	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTCTGGCCCTGAATTTGCATG	0.433000														74			10		0	0	0.008291	0	0
P4HA3	283208	broad.mit.edu	37	11	74009362	74009362	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:74009362C>T	uc010rrj.2	-	3	655	c.612G>A	c.(610-612)ctG>ctA	p.L204L	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.L204L			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	204						endoplasmic reticulum lumen	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			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CAGCCTCCTCCAGCCATGGAA	0.478000														100			29		0	0	0.008361	0	0
MYH4	4622	broad.mit.edu	37	17	10369992	10369992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10369992C>T	uc002gmn.3	-	2	182	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	24	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			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						AGCTTCAATTCGCTCCTTTTC	0.498000														93			9		0	0	0.004482	0	0
CSMD2	114784	broad.mit.edu	37	1	34166236	34166236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34166236C>T	uc001bxm.1	-	22	3791	c.3614G>A	c.(3613-3615)gGa>gAa	p.G1205E	CSMD2_uc001bxn.1_Missense_Mutation_p.G1165E|CSMD2_uc001bxo.1_Missense_Mutation_p.G78E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1165	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTAAAAACTCCCAGCAAACG	0.502000														65			6		0	0	0.001168	0	0
BRSK1	84446	broad.mit.edu	37	19	55820096	55820097	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55820096_55820097GG>AA	uc002qkf.3	+	20	2354	c.2227_splice	c.e20+1	p.D743_splice	BRSK1_uc002qkg.3_Splice_Site_p.D727_splice|BRSK1_uc002qkh.3_Splice_Site_p.D422_splice	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	727					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCCCTggcaggtgggtggtgg	0.743000														7			4		0	0	0.004672	0	0
BRIP1	83990	broad.mit.edu	37	17	59763235	59763235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:59763235G>A	uc002izk.2	-	18	3173	c.2867C>T	c.(2866-2868)tCa>tTa	p.S956L	BRIP1_uc002izl.1_Missense_Mutation_p.S337L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	956	Interaction with BRCA1.				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						TGGTAGAGGTGAATTTTTGGT	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						102			11		0	0	0.004007	0	0
AFM	173	broad.mit.edu	37	4	74354448	74354448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:74354448G>A	uc003hhb.3	+	6	846	c.815G>A	c.(814-816)gGg>gAg	p.G272E		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	272	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTGAAGGGGATGTTGTG	0.358000														80			9		0	0	0.006214	0	0
KLF9	687	broad.mit.edu	37	9	73027957	73027957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:73027957G>A	uc004aht.3	-	0	1617	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.	108	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CGGGCTGTGGGAAGGACTCGA	0.632000														72			8		0	0	0.003080	0	0
ABCA4	24	broad.mit.edu	37	1	94512566	94512566	+	Missense_Mutation	SNP	G	A	A	rs61749446		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94512566G>A	uc001dqh.3	-	18	2931	c.2827C>T	c.(2827-2829)Cgg>Tgg	p.R943W	ABCA4_uc010otn.1_Missense_Mutation_p.R869W	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	943	ABC transporter 1.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).|R -> W (in STGD1 and FFM).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACAGCTGGCCGGCCACAGGGC	0.512000														171			12		0	0	0.010729	0	0
KIF25	3834	broad.mit.edu	37	6	168445543	168445543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:168445543C>T	uc003qwk.1	+	8	1284	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	KIF25_uc003qwl.1_Missense_Mutation_p.S289F	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	341					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCTGCATTTCTCCCAGCCAG	0.552000														78			14		0	0	0.002450	0	0
PRKCH	5583	broad.mit.edu	37	14	62016441	62016441	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:62016441C>T	uc001xfn.3	+	13	2249	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	PRKCH_uc010tsa.2_Silent_p.F487F|PRKCH_uc010tsb.2_Silent_p.F216F|PRKCH_uc001xfo.3_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	648	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ACCCTGACTTCATAAAGGAAG	0.398000														83			18		0	0	0.010504	0	0
HEATR3	55027	broad.mit.edu	37	16	50136230	50136230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:50136230G>A	uc002efw.3	+	13	1966	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	HEATR3_uc002efx.3_Missense_Mutation_p.E516K|HEATR3_uc021thw.1_Missense_Mutation_p.E144K	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	602							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGTAGCAGGAGAAGCTTTGGA	0.408000														71			12		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179431214	179431214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179431214C>T	uc021vsy.1	-	274	72166	c.71941G>A	c.(71941-71943)Gaa>Aaa	p.E23981K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17676K|TTN_uc021vta.1_Missense_Mutation_p.E17609K|TTN_uc021vtb.1_Missense_Mutation_p.E17484K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24908	Fibronectin type-III 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAAATTTCAAATCGAGTG	0.418000														93			28		0	0	0.007291	0	0
SFRP5	6425	broad.mit.edu	37	10	99527511	99527511	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:99527511C>T	uc001kor.4	-	2	880	c.714G>A	c.(712-714)aaG>aaA	p.K238K		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	Homo sapiens secreted frizzled-related protein 5 (SFRP5), mRNA.	238	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GCTTGGTGTCCTTGCGCTTCA	0.602000														53			6		0	0	0.001984	0	0
PLXDC2	84898	broad.mit.edu	37	10	20466004	20466004	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:20466004G>A	uc001iqg.1	+	7	1597	c.960G>A	c.(958-960)gtG>gtA	p.V320V	PLXDC2_uc001iqh.1_Silent_p.V271V|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	320						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTCGGCTGTGGAGATGACCC	0.328000														98			12		0	0	0.001855	0	0
NLRP12	91662	broad.mit.edu	37	19	54310786	54310786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54310786C>T	uc002qcj.4	-	3	2429	c.2209G>A	c.(2209-2211)Gga>Aga	p.G737R	NLRP12_uc010eqw.3_5'UTR|NLRP12_uc002qch.4_Missense_Mutation_p.G736R|NLRP12_uc002qci.4_Missense_Mutation_p.G736R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G737R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	736					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTCTGAGTCCTTGACAGAGC	0.587000														10			4		0	0	0.009096	0	0
SCN2B	6327	broad.mit.edu	37	11	118038887	118038887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118038887C>T	uc001psf.2	-	2	552	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	121	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)		ATCCCCTCATCCTCCGGCTGC	0.567000														14			7		0	0	0.003080	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200576	47200576	+	Silent	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47200576A>T	uc003oyv.3	-	5	2326	c.1893T>A	c.(1891-1893)atT>atA	p.I631I		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	631					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGACTCCAATAATTTCGAATA	0.483000														118			27		0	0	0.010818	0	0
CARNS1	57571	broad.mit.edu	37	11	67191319	67191319	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:67191319G>A	uc001olc.4	+	7	3328	c.2148G>A	c.(2146-2148)cgG>cgA	p.R716R	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc010rpr.2_Silent_p.R700R|CARNS1_uc009yrp.3_Silent_p.R577R|CARNS1_uc021qmh.1_Silent_p.R135R	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	577	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						ACTTTTCCCGGATTACCCGAG	0.632000														22			4		0	0	0.000602	0	0
NCOR2	9612	broad.mit.edu	37	12	124848313	124848314	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124848313_124848314GG>AA	uc021rga.1	-	20	2956_2957	c.2839_2840CC>TT	c.(2839-2841)ccg>TTg	p.P947L	NCOR2_uc021rgb.1_Missense_Mutation_p.P930L|NCOR2_uc010tbb.2_Missense_Mutation_p.P947L|NCOR2_uc010tbc.2_Missense_Mutation_p.P929L|NCOR2_uc021rgc.1_Missense_Mutation_p.P929L|NCOR2_uc010tba.2_Missense_Mutation_p.P947L|NCOR2_uc001ugj.1_Missense_Mutation_p.P947L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	947					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCGCCAGTCGGGGTGAGGAGG	0.713000														67			6		0	0	0.004672	0	0
ADCY10	55811	broad.mit.edu	37	1	167802296	167802296	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:167802296G>A	uc001ger.3	-	24	3820	c.3522C>T	c.(3520-3522)ctC>ctT	p.L1174L	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.L1021L|ADCY10_uc009wvk.3_Silent_p.L1082L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1174					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						CATGGATATGGAGAAACAAGG	0.478000														241			19		0	0	0.006122	0	0
RAG2	5897	broad.mit.edu	37	11	36615100	36615100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:36615100G>A	uc021qge.1	-	0	619	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	RAG2_uc021qgc.1_Missense_Mutation_p.H207Y|RAG2_uc021qgd.1_Missense_Mutation_p.H207Y|RAG2_uc001mwv.4_Missense_Mutation_p.H207Y|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	207					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATAGAGACATGAAAAGATAGC	0.423000									Familial Hemophagocytic Lymphohistiocytosis					49			15		0	0	0.003163	0	0
SRRM1	10250	broad.mit.edu	37	1	24979433	24979433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:24979433C>T	uc001bjm.3	+	7	1174	c.950C>T	c.(949-951)cCa>cTa	p.P317L	SRRM1_uc010oel.2_Missense_Mutation_p.P317L|SRRM1_uc009vrh.1_Missense_Mutation_p.P278L|SRRM1_uc009vri.1_Missense_Mutation_p.P234L|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	317	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGGCCAAGCCCAAGAAGGCGG	0.463000														40			6		0	0	0.001984	0	0
ZNF687	57592	broad.mit.edu	37	1	151262922	151262922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151262922G>A	uc001exq.3	+	7	3190	c.3092G>A	c.(3091-3093)gGa>gAa	p.G1031E	ZNF687_uc009wmo.3_Missense_Mutation_p.G1031E|ZNF687_uc009wmp.3_Silent_p.G1051G	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	1031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.E1030Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCACAGAGGGAAAACGCACC	0.637000														50			12		0	0	0.010729	0	0
PPIL6	285755	broad.mit.edu	37	6	109748351	109748351	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:109748351G>A	uc010kdp.3	-	3	1010	c.429C>T	c.(427-429)ttC>ttT	p.F143F	PPIL6_uc003ptg.4_Silent_p.F143F|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	143					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCAAAAACACGAAATCATGCT	0.308000														32			6		0	0	0.003080	0	0
GPR110	266977	broad.mit.edu	37	6	46979809	46979809	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:46979809C>T	uc003oyt.3	-	9	1249	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	GPR110_uc011dwl.2_Silent_p.S38S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	350					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTCAGAATCGACACCACCG	0.488000														33			22		0	0	0.012319	0	0
MADD	8567	broad.mit.edu	37	11	47304127	47304127	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:47304127C>T	uc001ner.1	+	8	1856	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	MADD_uc001neq.2_Silent_p.I555I|MADD_uc001nev.1_Silent_p.I555I|MADD_uc001nes.1_Silent_p.I555I|MADD_uc001net.1_Silent_p.I555I|MADD_uc009yln.1_Silent_p.I555I|MADD_uc001neu.1_Silent_p.I555I|MADD_uc001nez.2_Silent_p.I555I|MADD_uc001new.2_Silent_p.I555I|MADD_uc001nex.2_Silent_p.I555I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	555	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGGAATGGATCCTTAACCCCA	0.537000														21			5		0	0	0.000602	0	0
GHDC	84514	broad.mit.edu	37	17	40344388	40344388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:40344388G>A	uc002hzd.3	-	3	1244	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	GHDC_uc002hzg.2_Missense_Mutation_p.R254W|GHDC_uc010wgg.2_Missense_Mutation_p.R215W|GHDC_uc002hze.4_Missense_Mutation_p.R254W|GHDC_uc002hzf.4_Missense_Mutation_p.R254W|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	254						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGCCAGAGCCGAAGGGCCAGT	0.687000														69			7		0	0	0.001984	0	0
EPHB1	2047	broad.mit.edu	37	3	134960079	134960079	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:134960079C>T	uc003eqt.3	+	12	2811	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	EPHB1_uc003equ.3_Silent_p.I373I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	812	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G811E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTATGGGATCGTCATGTGGG	0.527000														139			13		0	0	0.003163	0	0
GRID2	2895	broad.mit.edu	37	4	94137934	94137934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:94137934G>A	uc011cdt.2	+	5	1093	c.835G>A	c.(835-837)Gga>Aga	p.G279R	GRID2_uc010ikx.3_Missense_Mutation_p.G279R|GRID2_uc011cdu.2_Missense_Mutation_p.G184R|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	279					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAGGTCAATTGGAAGGTTAAC	0.398000														81			7		0	0	0.003080	0	0
MDH1B	130752	broad.mit.edu	37	2	207613758	207613758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:207613758C>T	uc002vbs.3	-	6	1257	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.G401E|MDH1B_uc021vvm.1_Missense_Mutation_p.G303E	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	401					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACTCAATATTCCTAAAGATAC	0.413000														34			8		0	0	0.006214	0	0
TBL3	10607	broad.mit.edu	37	16	2028358	2028358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2028358C>T	uc002cnu.1	+	20	2281	c.2179C>T	c.(2179-2181)Cac>Tac	p.H727Y	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.H613Y|TBL3_uc010bsc.1_Missense_Mutation_p.H594Y|TBL3_uc010uvt.1_Missense_Mutation_p.H196Y|TBL3_uc002cnw.1_Non-coding_Transcript	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	727					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAACTCGCGGCACTGCCACGA	0.672000														78			21		0	0	0.010504	0	0
DNAJB14	79982	broad.mit.edu	37	4	100822258	100822258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100822258C>T	uc003hvl.3	-	7	1218	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K	DNAJB14_uc003hvk.3_Missense_Mutation_p.R271K|DNAJB14_uc010ili.3_Missense_Mutation_p.R289K	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA.	356					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		ATCTGCCTTCCTTCGGAGTCG	0.348000														65			6		0	0	0.001168	0	0
GPR39	2863	broad.mit.edu	37	2	133174903	133174903	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:133174903G>A	uc002ttl.3	+	0	757	c.288G>A	c.(286-288)tgG>tgA	p.W96*		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	96						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCATCATCTGGAATCCCCTGA	0.557000														59			6		0	0	0.003080	0	0
GPC2	221914	broad.mit.edu	37	7	99771474	99771474	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99771474G>A	uc003utv.3	-	4	1044	c.876C>T	c.(874-876)gaC>gaT	p.D292D	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	292						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTTGCCCCAGTCAGGCTCCA	0.612000														184			49		0	0	0.014410	0	0
INTS3	65123	broad.mit.edu	37	1	153744397	153744398	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153744397_153744398CC>TT	uc009wom.3	+	26	2899_2900	c.2678_2679CC>TT	c.(2677-2679)tcc>tTT	p.S893F	INTS3_uc001fct.3_Missense_Mutation_p.S893F|INTS3_uc001fcu.3_Missense_Mutation_p.S585F|INTS3_uc001fcv.3_Missense_Mutation_p.S687F|INTS3_uc010peb.2_Missense_Mutation_p.S687F|INTS3_uc001fcw.3_Missense_Mutation_p.S406F|INTS3_uc010pec.2_Missense_Mutation_p.S406F|INTS3_uc001fcx.3_Missense_Mutation_p.S190F|INTS3_uc001fcy.3_Missense_Mutation_p.S190F	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	894					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)			CACATCAAGTCCCTGCTCATCA	0.609000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			5		0	0	0.004672	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18888042	18888042	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:18888042G>A	uc003zne.4	+	24	4614	c.4462_splice	c.e24+1	p.D1488_splice	ADAMTSL1_uc003znf.4_Splice_Site_p.D189_splice	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1488						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGATCCAAGGTAAGAAACCC	0.473000														19			4		0	0	0.000602	0	0
CTNND2	1501	broad.mit.edu	37	5	11159743	11159743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:11159743G>A	uc003jfa.1	-	11	2249	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	CTNND2_uc010itt.2_Missense_Mutation_p.R611W|CTNND2_uc011cmy.1_Missense_Mutation_p.R365W|CTNND2_uc011cmz.1_Missense_Mutation_p.R269W|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.R269W	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	702					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R702R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTATTTTCCGATCATCCTGA	0.547000														60			8		0	0	0.006214	0	0
PNMA5	114824	broad.mit.edu	37	X	152159167	152159167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:152159167G>A	uc022chn.1	-	0	976	c.976C>T	c.(976-978)Cga>Tga	p.R326*	PNMA5_uc010ntx.3_Nonsense_Mutation_p.R326*|PNMA5_uc010ntw.3_Nonsense_Mutation_p.R326*|PNMA5_uc004fgy.4_Nonsense_Mutation_p.R326*|PNMA5_uc022chm.1_Nonsense_Mutation_p.R326*	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	326					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCATCTCGAATGAGCTTC	0.567000														21			15		0	0	0.002450	0	0
EEF2	1938	broad.mit.edu	37	19	3976654	3976654	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:3976654G>A	uc002lze.3	-	14	2558	c.2475C>T	c.(2473-2475)ttC>ttT	p.F825F		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	825						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGTTGTCGAAGGGGTCTC	0.637000														6			5		0	0	0.000602	0	0
TGM1	7051	broad.mit.edu	37	14	24723876	24723876	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24723876G>A	uc001wod.3	-	12	2206	c.2082C>T	c.(2080-2082)tcC>tcT	p.S694S	TGM1_uc010tog.2_Silent_p.S252S	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	694					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCACCGTGAGGGAGAGGTCTG	0.627000														54			14		0	0	0.004007	0	0
FAM75A7	26165	broad.mit.edu	37	9	65506468	65506468	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:65506468C>T	uc004adx.4	-	3	1121	c.1092G>A	c.(1090-1092)cgG>cgA	p.R364R		NM_015667	NP_056482	Q8IWB4	F75A7_HUMAN	Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA.	364						integral to membrane		p.R364Q(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TAGCCAAATTCCGCAAATAAT	0.433000														197			58		0	0	0.014410	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:129822269G>A	uc009zyl.1	-	3	1537	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	403						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)		CGGGGTACTCGACCTGCCACG	0.577000														103			14		0	0	0.002450	0	0
DLEC1	9940	broad.mit.edu	37	3	38139081	38139081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38139081G>A	uc003chp.1	+	16	2539	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	DLEC1_uc003cho.1_Missense_Mutation_p.E840K|DLEC1_uc010hgv.1_Missense_Mutation_p.E840K|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	840					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTGAAATCGAAGACTCGCC	0.587000														36			5		0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228444558	228444558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:228444558C>T	uc009xez.1	+	14	4560	c.4516C>T	c.(4516-4518)Cag>Tag	p.Q1506*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.Q1506*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1506	Ig-like 15.				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)				GCAGGCGGGCCAGGCGGTCGC	0.647000														37			5		0	0	0.000602	0	0
TRANK1	9881	broad.mit.edu	37	3	36898681	36898681	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36898681C>T	uc003cgj.3	-	11	2648	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	800					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAGACAGCTTCTTCAGCATTT	0.507000														176			12		0	0	0.003163	0	0
OR51S1	119692	broad.mit.edu	37	11	4870000	4870000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4870000C>T	uc010qyo.2	-	0	439	c.439G>A	c.(439-441)Ggt>Agt	p.G147S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTACACCATTGGTGAGG	0.552000														69			15		0	0	0.002450	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823142	12823142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12823142G>A	uc002gnr.4	+	5	785	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ARHGAP44_uc010vvk.2_Missense_Mutation_p.R153Q|ARHGAP44_uc010vvl.2_Missense_Mutation_p.R153Q|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.R153Q|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	153	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GATTCCTCACGAACCAGGTAG	0.393000														12			5		0	0	0.000602	0	0
ATP10D	57205	broad.mit.edu	37	4	47563038	47563038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47563038G>A	uc003gxk.1	+	13	2778	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	ATP10D_uc003gxl.1_Missense_Mutation_p.E120K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	872					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGACAACAGGGAAGAATTACT	0.383000														69			10		0	0	0.006214	0	0
RFX6	222546	broad.mit.edu	37	6	117248493	117248493	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117248493G>A	uc003pxm.3	+	16	2252	c.2189G>A	c.(2188-2190)tGg>tAg	p.W730*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	730					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	p.A729T(1)		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						TGCATGGCTTGGACTGAACAG	0.547000														47			5		0	0	0.000602	0	0
RGS6	9628	broad.mit.edu	37	14	72939610	72939610	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:72939610G>A	uc001xna.4	+	8	1090	c.567G>A	c.(565-567)agG>agA	p.R189R	RGS6_uc021rvv.1_Silent_p.R154R|RGS6_uc010ttn.2_Silent_p.R189R|RGS6_uc021rvw.1_Silent_p.R189R|RGS6_uc021rvx.1_Silent_p.R189R|RGS6_uc021rvy.1_Silent_p.R189R|RGS6_uc021rvz.1_Silent_p.R189R|RGS6_uc001xmy.4_Silent_p.R189R|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.R189R|RGS6_uc021rwa.1_Silent_p.R189R|RGS6_uc021rwb.1_Silent_p.R189R|RGS6_uc010ttp.1_Silent_p.R120R|RGS6_uc021rwc.1_Silent_p.R50R|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	189					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGACAGAAAGGAAAATTTTGG	0.398000														111			39		0	0	0.014410	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514070	158514070	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:158514070C>T	uc003qqx.2	+	25	3784	c.3678C>T	c.(3676-3678)ctC>ctT	p.L1226L	SYNJ2_uc003qqw.2_Silent_p.L1226L|SYNJ2_uc003qqy.2_Silent_p.L989L|SYNJ2_uc003qqz.2_Silent_p.L843L|SYNJ2_uc003qra.2_Silent_p.L569L	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1226	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGCCCCCACTCCTTCCCCGTC	0.587000														19			4		0	0	0.009096	0	0
MTMR11	10903	broad.mit.edu	37	1	149905553	149905553	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:149905553G>A	uc001etl.4	-	8	1061	c.810C>T	c.(808-810)ctC>ctT	p.L270L	MTMR11_uc001etm.2_Silent_p.L198L|MTMR11_uc010pbm.1_Silent_p.L242L|MTMR11_uc010pbn.1_Silent_p.L112L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	270	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCCACAGCGGAGAAGATCAC	0.552000														31			9		0	0	0.006214	0	0
ABCG2	9429	broad.mit.edu	37	4	89018718	89018718	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:89018718T>G	uc003hrg.3	-	12	2027	c.1534A>C	c.(1534-1536)Acc>Ccc	p.T512P	ABCG2_uc003hrh.3_Missense_Mutation_p.T512P|ABCG2_uc003hrf.3_Missense_Mutation_p.T380P	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	512	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATCATAAGGGTAAACATCATA	0.458000														28			8		0	0	0.004482	0	0
RPTN	126638	broad.mit.edu	37	1	152127432	152127432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152127432C>T	uc001ezs.1	-	2	2208	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	715	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTGTCTATCCCAAGTTTGA	0.562000														171			11		0	0	0.010729	0	0
CARD11	84433	broad.mit.edu	37	7	2985562	2985562	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2985562C>T	uc003smv.3	-	3	583	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	83	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCTTTGCCCCTTGGTATGTA	0.488000			Mis		DLBCL									172			17		0	0	0.006122	0	0
ATP5I	521	broad.mit.edu	37	4	667114	667114	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:667114C>T	uc003gas.3	-	2	259	c.168G>A	c.(166-168)cgG>cgA	p.R56R	ATP5I_uc003gar.3_Non-coding_Transcript|ATP5I_uc021xkb.1_Non-coding_Transcript|MYL5_uc003gat.3_5'Flank|MYL5_uc003gau.3_5'Flank	NM_007100	NP_009031	P56385	ATP5I_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E (ATP5I), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	56					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2						CTCTGGCAATCCGTTTCAGTT	0.473000														44			8		0	0	0.006214	0	0
CDH6	1004	broad.mit.edu	37	5	31299680	31299680	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:31299680C>T	uc003jhe.2	+	4	1113	c.753C>T	c.(751-753)acC>acT	p.T251T	CDH6_uc003jhd.2_Silent_p.T251T	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	251	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.T251T(2)		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						TATCTGGGACCACCACCGTGA	0.478000														71			6		0	0	0.001984	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447753	138447753	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138447753C>T	uc003vuf.3	-	4	547	c.309G>A	c.(307-309)ctG>ctA	p.L103L	ATP6V0A4_uc003vug.3_Silent_p.L103L|ATP6V0A4_uc003vuh.3_Silent_p.L103L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	103					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACTCTCCTTCCAGTTTTTCTA	0.418000														46			14		0	0	0.001855	0	0
LAMB2	3913	broad.mit.edu	37	3	49161226	49161226	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49161226G>A	uc003cwe.3	-	23	4031	c.3732C>T	c.(3730-3732)atC>atT	p.I1244I	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1244	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCACCTACGATGCCCTGCA	0.617000														34			6		0	0	0.001168	0	0
ATP8A1	10396	broad.mit.edu	37	4	42466951	42466951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:42466951C>T	uc003gwr.2	-	25	2699	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	ATP8A1_uc003gwq.2_Missense_Mutation_p.G49S|ATP8A1_uc003gws.2_Missense_Mutation_p.G808S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	823					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCCTGCAGGCCTTCATTGCCA	0.458000														24			7		0	0	0.003080	0	0
MYO7A	4647	broad.mit.edu	37	11	76924939	76924939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76924939C>T	uc001oyb.2	+	47	6745	c.6473C>T	c.(6472-6474)tCc>tTc	p.S2158F	MYO7A_uc001oyc.2_Missense_Mutation_p.S2118F|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2158	FERM 2.				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						ACCAAGATCTCCAACTGGAGC	0.592000														72			6		0	0	0.001984	0	0
DRP2	1821	broad.mit.edu	37	X	100493979	100493979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:100493979G>A	uc004egz.2	+	5	817	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	DRP2_uc011mrh.1_Missense_Mutation_p.E72K	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	150					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGCCTTTATGGAAGAAGTCAA	0.448000														28			8		0	0	0.004482	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514404	98514404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:98514404C>T	uc010bom.3	+	7	1403	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ARRDC4_uc002bui.4_Missense_Mutation_p.S328F	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	415					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CAGCCTGTTTCCTTCATTCTC	0.398000														104			7		0	0	0.008291	0	0
OVCH1	341350	broad.mit.edu	37	12	29630406	29630406	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:29630406C>T	uc001rix.1	-	11	1114	c.1114_splice	c.e11-1	p.V372_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	372	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)					TTTCCACAGACCTTACCTTAA	0.408000														50			8		0	0	0.003080	0	0
ZFR	51663	broad.mit.edu	37	5	32387754	32387754	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32387754G>A	uc003jhr.1	-	13	2480	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	800	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TATCTCCTCGGAGAAGTAATC	0.383000														61			8		0	0	0.006214	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871503	51871503	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:51871503G>A	uc002xwo.3	+	1	2393	c.1506G>A	c.(1504-1506)agG>agA	p.R502R	TSHZ2_uc021wex.1_Silent_p.R499R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	502					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AATACCTAAGGGAGGAAGACT	0.448000														43			6		0	0	0.003080	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6622969	6622969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:6622969C>T	uc003sqi.3	+	6	761	c.403C>T	c.(403-405)Ctt>Ttt	p.L135F	ZDHHC4_uc003sql.3_Missense_Mutation_p.L135F|ZDHHC4_uc003sqj.3_Missense_Mutation_p.L135F|ZDHHC4_uc003sqh.3_Missense_Mutation_p.L135F	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	135						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ATTATTATTTCTTCATGTTTA	0.388000														41			12		0	0	0.013537	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393604	145393604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:145393604C>T	uc003lnt.3	+	4	1277	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	SH3RF2_uc011dbl.1_Missense_Mutation_p.P347S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	347							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGACGTTCCTTCCAGCTG	0.527000														56			8		0	0	0.004482	0	0
RNASEL	6041	broad.mit.edu	37	1	182551267	182551267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:182551267G>A	uc009wxz.2	-	3	1950	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C	RNASEL_uc001gpk.3_Missense_Mutation_p.R565C|RNASEL_uc009wya.1_3'UTR	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	565	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGGAAGAGACGATGAATGAgg	0.458000														84			30		0	0	0.009535	0	0
TIE1	7075	broad.mit.edu	37	1	43777490	43777490	+	Silent	SNP	G	A	A	rs145245556		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:43777490G>A	uc001ciu.3	+	9	1659	c.1482G>A	c.(1480-1482)tcG>tcA	p.S494S	TIE1_uc010okd.2_Silent_p.S494S|TIE1_uc010oke.2_Silent_p.S449S|TIE1_uc009vwq.3_Silent_p.S450S|TIE1_uc010okf.1_Silent_p.S139S|TIE1_uc010okg.2_Silent_p.S139S	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	494	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGACTGGTCGACCATTGTGG	0.602000														61			8		0	0	0.004482	0	0
PRKD3	23683	broad.mit.edu	37	2	37507065	37507065	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37507065G>A	uc002rqd.3	-	6	1551	c.996C>T	c.(994-996)tcC>tcT	p.S332S	PRKD3_uc002rqe.1_5'Flank|PRKD3_uc002rqf.1_Silent_p.S332S	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	332					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCCCAGACTGGAAGGTTCTG	0.338000														20			5		0	0	0.000602	0	0
INTS7	25896	broad.mit.edu	37	1	212115266	212115266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212115266G>A	uc001hiw.2	-	19	3012	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	INTS7_uc001hix.2_Missense_Mutation_p.S806F|INTS7_uc009xdb.2_Missense_Mutation_p.S910F|INTS7_uc001hiy.2_Missense_Mutation_p.S916F|INTS7_uc010pta.2_Missense_Mutation_p.S881F	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	930					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTCTTCCAGGGATTTTACAAA	0.453000														85			24		0	0	0.014323	0	0
ZNF385B	151126	broad.mit.edu	37	2	180309666	180309666	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:180309666C>T	uc002unn.4	-	8	1738	c.1134G>A	c.(1132-1134)ggG>ggA	p.G378G	ZNF385B_uc002unj.3_Silent_p.G276G|ZNF385B_uc002unl.3_Silent_p.G275G|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.G302G	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	378						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAGTGGTTTCCCTGCAACTC	0.443000														104			27		0	0	0.009535	0	0
MFAP1	4236	broad.mit.edu	37	15	44105298	44105298	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:44105298G>A	uc001zth.1	-	5	958	c.774C>T	c.(772-774)tcC>tcT	p.S258S		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	258						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		ATGCAGCCAGGGATCGCTTGT	0.443000														155			29		0	0	0.006320	0	0
C15orf2	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:24921643G>A	uc001ywo.3	+	0	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	210					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)		CCTCTGGAGGGAAATGTCTAC	0.612000														18			4		0	0	0.009096	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847974	16847974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:16847974G>A	uc010rcu.1	-	9	1051	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	PLEKHA7_uc001mmo.3_Missense_Mutation_p.R346C|PLEKHA7_uc001mmn.3_Missense_Mutation_p.R54C	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	346					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCTGGGAACGGTACTGCTCT	0.597000														38			10		0	0	0.013537	0	0
ZNF30	90075	broad.mit.edu	37	19	35434309	35434309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:35434309C>T	uc010edq.1	+	4	820	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	ZNF30_uc002nxf.2_Missense_Mutation_p.P66S|ZNF30_uc010edp.1_Missense_Mutation_p.P147S|ZNF30_uc010edr.1_Missense_Mutation_p.P148S	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TAGTGAAAAACCCAACAGATG	0.363000														48			7		0	0	0.001984	0	0
EPS15L1	58513	broad.mit.edu	37	19	16545262	16545263	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16545262_16545263GG>AA	uc002ndx.3	-	6	417_418	c.411_412CC>TT	c.(409-414)agcctc>agTTtc	p.L138F	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.L28F|EPS15L1_uc002ndz.1_Missense_Mutation_p.L138F|EPS15L1_uc010xpf.1_Missense_Mutation_p.L41F|EPS15L1_uc002nea.1_Missense_Mutation_p.L138F|EPS15L1_uc010eah.1_Missense_Mutation_p.L138F|EPS15L1_uc002neb.1_5'UTR|EPS15L1_uc002nec.1_Missense_Mutation_p.L138F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	138	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATGGGCAAGAGGCTTTCAAAAA	0.490000														107			10		0	0	0.004672	0	0
KDM5A	5927	broad.mit.edu	37	12	432786	432786	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:432786G>A	uc001qif.1	-	14	2493	c.2130C>T	c.(2128-2130)ccC>ccT	p.P710P	KDM5A_uc010sdn.1_Silent_p.P669P|KDM5A_uc010sdo.1_Silent_p.P329P	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	710					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTTCTGCATGGGGCAGGGGC	0.388000			T	NUP98	AML									73			15		0	0	0.008871	0	0
IL19	29949	broad.mit.edu	37	1	206972280	206972280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:206972280C>T	uc001heo.3	+	0	66	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_153758	NP_037503	Q9UHD0	IL19_HUMAN	Homo sapiens interleukin 19 (IL19), transcript variant 1, mRNA.	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity	p.S14C(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTGCGTGTTCCTTACCACTC	0.507000														47			28		0	0	0.009535	0	0
NLRP14	338323	broad.mit.edu	37	11	7063788	7063788	+	Silent	SNP	G	A	A	rs141888194		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7063788G>A	uc001mfb.1	+	3	854	c.531G>A	c.(529-531)caG>caA	p.Q177Q		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	177	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CACAGCCACAGATCGTGGTGC	0.478000														45			7		0	0	0.004482	0	0
INTS7	25896	broad.mit.edu	37	1	212148585	212148585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212148585C>T	uc001hiw.2	-	12	1961	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	INTS7_uc001hix.2_Missense_Mutation_p.E456K|INTS7_uc009xdb.2_Missense_Mutation_p.E580K|INTS7_uc001hiy.2_Missense_Mutation_p.E580K|INTS7_uc010pta.2_Missense_Mutation_p.E531K	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	580					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TAATTTTCCTCTTGCAACCCA	0.383000														74			14		0	0	0.002450	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550880	143550880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:143550880C>T	uc003evn.3	-	1	568	c.359G>A	c.(358-360)gGa>gAa	p.G120E	SLC9A9_uc011bnk.2_Intron	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	120					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						TATAGCATTTCCTTGATGAGG	0.294000														39			6		0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101742248	101742248	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:101742248G>A	uc001vox.1	-	28	3528	c.3339C>T	c.(3337-3339)tcC>tcT	p.S1113S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1113						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)					AGCCTTTCAAGGAGAGAACTT	0.458000														238			24		0	0	0.006320	0	0
PTPRF	5792	broad.mit.edu	37	1	44072522	44072522	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44072522T>G	uc001cjr.3	+	20	4080	c.3740T>G	c.(3739-3741)gTg>gGg	p.V1247G	PTPRF_uc001cjs.3_Missense_Mutation_p.V1238G|PTPRF_uc001cju.3_Missense_Mutation_p.V625G|PTPRF_uc009vwt.3_Missense_Mutation_p.V807G|PTPRF_uc001cjv.3_Missense_Mutation_p.V707G|PTPRF_uc001cjw.3_Missense_Mutation_p.V473G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1247					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGAGATCGTGGTCCAGGTG	0.627000														56			6		0	0	0.001168	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069913	114069913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:114069913C>T	uc003ebi.3	-	3	1192	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	ZBTB20_uc003ebj.3_Missense_Mutation_p.D265N|ZBTB20_uc010hqp.3_Missense_Mutation_p.D265N|ZBTB20_uc003ebk.3_Missense_Mutation_p.D265N|ZBTB20_uc003ebl.3_Missense_Mutation_p.D265N|ZBTB20_uc003ebm.3_Missense_Mutation_p.D265N|ZBTB20_uc003ebn.3_Missense_Mutation_p.D265N|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCGTAGTAGTCGTAATCGTCC	0.617000														91			16		0	0	0.004990	0	0
TEX14	56155	broad.mit.edu	37	17	56699130	56699130	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56699130C>G	uc010dcz.2	-	4	553	c.435G>C	c.(433-435)caG>caC	p.Q145H	TEX14_uc002iwr.2_Missense_Mutation_p.Q145H|TEX14_uc002iws.2_Missense_Mutation_p.Q145H|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	145						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCACAGCGCTGCATGAACT	0.552000														32			14		0	0	0.001855	0	0
ZNF318	24149	broad.mit.edu	37	6	43323411	43323411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:43323411G>A	uc003oux.3	-	3	1739	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTCCCAAGGGGCTTTGGTAC	0.478000														168			15		0	0	0.003163	0	0
CTNND2	1501	broad.mit.edu	37	5	11732304	11732304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:11732304C>T	uc003jfa.1	-	1	263	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	40					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGCCATCCCCGTTGGAGGTG	0.512000														53			16		0	0	0.003163	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610071	38610071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38610071C>T	uc002ohk.3	+	8	2926	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	806	Rap-GAP.				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)			GCTGAGAACGCCGCGCACAAG	0.587000														50			5		0	0	0.001168	0	0
SAFB	6294	broad.mit.edu	37	19	5668187	5668187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:5668187C>T	uc002mcg.3	+	20	2810	c.2639C>T	c.(2638-2640)gCc>gTc	p.A880V	SAFB_uc002mcf.3_Missense_Mutation_p.A878V|SAFB_uc002mce.4_Missense_Mutation_p.A879V|SAFB_uc010xis.2_Missense_Mutation_p.A811V|SAFB_uc010xit.2_Missense_Mutation_p.A722V|SAFB_uc010xir.2_Missense_Mutation_p.A877V|SAFB_uc010xiu.2_Missense_Mutation_p.A679V	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	878	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGCAGCTTTGCCCCAGGCGGG	0.677000														84			6		0	0	0.001168	0	0
CAMK2D	817	broad.mit.edu	37	4	114381320	114381320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:114381320C>T	uc003ibi.3	-	15	2046	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CAMK2D_uc003ibj.3_Missense_Mutation_p.R396Q|CAMK2D_uc003ibk.3_Missense_Mutation_p.R396Q|CAMK2D_uc003ibo.4_Missense_Mutation_p.R430Q|CAMK2D_uc003ibm.2_Missense_Mutation_p.R410Q|CAMK2D_uc003ibn.2_Missense_Mutation_p.R407Q|CAMK2D_uc003ibl.2_Missense_Mutation_p.R396Q	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	396					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAAGTAGAATCGGTGAAAATC	0.328000														73			27		0	0	0.010818	0	0
MKKS	8195	broad.mit.edu	37	20	10394146	10394146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:10394146G>A	uc002wnt.1	-	2	904	c.17C>T	c.(16-18)gCt>gTt	p.A6V	MKKS_uc002wnu.1_Missense_Mutation_p.A6V|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	6					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGGCTTCTTAGCTTCCAAACG	0.378000														67			10		0	0	0.013537	0	0
PSD3	23362	broad.mit.edu	37	8	18662374	18662374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:18662374G>A	uc003wza.3	-	4	1772	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	PSD3_uc003wyy.3_Missense_Mutation_p.H23Y|PSD3_uc003wyz.3_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	557	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATTTCAGAATGAGCTTCTAGC	0.388000														110			14		0	0	0.003163	0	0
PRDM16	63976	broad.mit.edu	37	1	3328135	3328135	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3328135C>T	uc001akf.3	+	8	1456	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	PRDM16_uc001ake.3_Silent_p.A458A|PRDM16_uc009vlh.3_Silent_p.A159A|PRDM16_uc001akc.3_Silent_p.A458A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	458					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCATCTTTGCCCCGGGCCTGC	0.617000			T	EVI1	"""MDS, AML"""									34			7		0	0	0.003080	0	0
MAGI1	9223	broad.mit.edu	37	3	65361455	65361455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:65361455C>T	uc003dmn.3	-	17	3687	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	MAGI1_uc003dmm.3_Missense_Mutation_p.G1082E|MAGI1_uc003dmo.3_Missense_Mutation_p.G1083E|MAGI1_uc003dmp.3_Intron	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1083	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AACTGTGTTTCCCGCTTCCTT	0.448000														91			10		0	0	0.001855	0	0
ENO1	2023	broad.mit.edu	37	1	8922989	8922989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:8922989G>A	uc001apj.2	-	10	1714	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	ENO1_uc001api.2_Missense_Mutation_p.P305S	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	398					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GATCGGCAAGGGGCACCAGTC	0.562000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			4		0	0	0.009096	0	0
FAM47C	442444	broad.mit.edu	37	X	37028490	37028490	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:37028490G>A	uc004ddl.2	+	0	2059	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	669								p.P668Q(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCCCCGGAGCCCCCCGAGA	0.642000														16			8		0	0	0.008291	0	0
C2orf53	339779	broad.mit.edu	37	2	27360809	27360809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27360809G>A	uc002rjb.2	-	2	969	c.389C>T	c.(388-390)cCc>cTc	p.P130L	C2orf53_uc021vfb.1_Missense_Mutation_p.P130L	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	130	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aggctgggagggagaaaagga	0.612000														14			5		0	0	0.000602	0	0
TMEM246	84302	broad.mit.edu	37	9	104238679	104238679	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104238679G>A	uc004bbm.3	-	1	1018	c.696C>T	c.(694-696)ttC>ttT	p.F232F	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.F232F	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	232						integral to membrane											GTGGCTCAGAGAAGCGAGCCC	0.542000														42			5		0	0	0.001984	0	0
BAAT	570	broad.mit.edu	37	9	104133271	104133271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104133271C>T	uc010mtd.3	-	1	525	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	BAAT_uc004bbd.4_Missense_Mutation_p.R139Q	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	139					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AACCTTAATTCGTGTGACACC	0.433000														62			8		0	0	0.006214	0	0
SETD3	84193	broad.mit.edu	37	14	99866594	99866594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:99866594C>T	uc001ygc.3	-	11	1350	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	394					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCTTTCAGTTCTTCTACAAGA	0.413000														48			5		0	0	0.000602	0	0
CRK	1398	broad.mit.edu	37	17	1340197	1340197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:1340197G>A	uc002fsl.3	-	1	644	c.494C>T	c.(493-495)cCt>cTt	p.P165L	CRK_uc002fsm.3_Missense_Mutation_p.P165L	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	165	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CTGCTCTTCAGGCTTGTCCCG	0.517000														58			24		0	0	0.006320	0	0
CDH7	1005	broad.mit.edu	37	18	63477217	63477217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:63477217C>T	uc002lkb.3	+	2	914	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CDH7_uc002ljz.3_Missense_Mutation_p.P163L|CDH7_uc002lka.3_Missense_Mutation_p.P163L	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	163	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCAGGAGTTCCCGAAATGTCT	0.428000														109			9		0	0	0.008291	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20249284C>T	uc010tku.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000														117			7		0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70975043	70975044	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70975043_70975044CC>TT	uc001swb.4	-	7	1726_1727	c.1696_1697GG>AA	c.(1696-1698)gga>AAa	p.G566K	PTPRB_uc010sto.2_Missense_Mutation_p.G566K|PTPRB_uc010stp.2_Missense_Mutation_p.G476K|PTPRB_uc001swc.4_Missense_Mutation_p.G784K|PTPRB_uc001swa.4_Missense_Mutation_p.G784K|PTPRB_uc001swd.4_Missense_Mutation_p.G783K|PTPRB_uc009zrr.2_Missense_Mutation_p.G663K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	566	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGGTCATTCCTTGGTTGGCC	0.396000														39			5		0	0	0.004672	0	0
POLE	5426	broad.mit.edu	37	12	133233813	133233813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133233813G>A	uc001uks.1	-	28	3535	c.3491C>T	c.(3490-3492)cCc>cTc	p.P1164L	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P1137L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1164					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)		CAGCCAGTCGGGGTGTTTGAC	0.532000								DNA polymerases (catalytic subunits)						58			15		0	0	0.004007	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463998	38463998	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38463998C>T	uc003jlc.2	+	22	3310	c.2964C>T	c.(2962-2964)atC>atT	p.I988I	EGFLAM_uc003jlb.2_Silent_p.I980I|EGFLAM_uc003jle.2_Silent_p.I746I|EGFLAM_uc003jlf.2_Silent_p.I346I|EGFLAM_uc003jlg.2_Silent_p.I123I|EGFLAM_uc003jlh.2_Silent_p.I70I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	988	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.T987T(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGGCTGTATCTCTCACTTCA	0.507000														31			8		0	0	0.006214	0	0
TPO	7173	broad.mit.edu	37	2	1488624	1488624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:1488624G>A	uc002qwr.3	+	8	1681	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.G532E|TPO_uc002qwx.3_Missense_Mutation_p.G532E|TPO_uc002qwu.3_Missense_Mutation_p.G532E|TPO_uc010yio.2_Missense_Mutation_p.G359E|TPO_uc010yip.2_Missense_Mutation_p.G532E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	532					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)	TTACTCCGTGGAGGTGAGTGA	0.527000														28			4		0	0	0.000602	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389491	150389491	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150389491G>A	uc003who.3	+	2	205	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTGCAGGGAACAGCATCC	0.512000														25			9		0	0	0.004482	0	0
FAM59A	64762	broad.mit.edu	37	18	29867099	29867099	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:29867099G>A	uc002kxl.3	-	3	1517	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	FAM59A_uc002kxk.2_Silent_p.S487S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	487										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						TCGCACATTTGGATCGGACAG	0.547000														83			10		0	0	0.013537	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993810	140993810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:140993810C>T	uc004fbt.3	+	3	944	c.620C>T	c.(619-621)tCc>tTc	p.S207F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	207							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)					CGCTCCTTCTCCTCCACTTTA	0.488000										HNSCC(15;0.026)				104			7		0	0	0.006214	0	0
KCNK5	8645	broad.mit.edu	37	6	39159209	39159209	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39159209C>T	uc003oon.3	-	4	1321	c.957G>A	c.(955-957)ggG>ggA	p.G319G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	319					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCCCGTCTCCCCACCCCCGC	0.617000														83			9		0	0	0.010729	0	0
SEC31A	22872	broad.mit.edu	37	4	83748524	83748524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:83748524G>A	uc003hnh.3	-	23	3469	c.3289C>T	c.(3289-3291)Cag>Tag	p.Q1097*	SEC31A_uc003hnd.3_Nonsense_Mutation_p.Q266*|SEC31A_uc003hne.3_Nonsense_Mutation_p.Q846*|SEC31A_uc011ccl.2_Nonsense_Mutation_p.Q1043*|SEC31A_uc003hnl.3_Nonsense_Mutation_p.Q944*|SEC31A_uc003hng.3_Nonsense_Mutation_p.Q1082*|SEC31A_uc011ccm.2_Nonsense_Mutation_p.Q1077*|SEC31A_uc003hni.3_Nonsense_Mutation_p.Q983*|SEC31A_uc003hnk.3_Nonsense_Mutation_p.Q1058*|SEC31A_uc003hnf.3_Nonsense_Mutation_p.Q1097*|SEC31A_uc011ccn.2_Nonsense_Mutation_p.Q1082*|SEC31A_uc003hnm.3_Nonsense_Mutation_p.Q1097*	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	1097	Interaction with PDCD6.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACTGTTACCTGGAAGGTATTT	0.398000														134			27		0	0	0.003271	0	0
OBSCN	84033	broad.mit.edu	37	1	228434376	228434376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:228434376C>T	uc009xez.1	+	12	3949	c.3905C>T	c.(3904-3906)tCg>tTg	p.S1302L	OBSCN_uc001hsn.3_Missense_Mutation_p.S1302L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1302	Ig-like 13.|Poly-Ser.				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)				AGCTCCAGTTCGAAAGTGCGC	0.647000														77			27		0	0	0.003954	0	0
SPINK2	6691	broad.mit.edu	37	4	57686735	57686735	+	Silent	SNP	G	A	A	rs114989645	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57686735G>A	uc003hcg.1	-	1	131	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_021114	NP_066937	P20155	ISK2_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) (SPINK2), mRNA.	22						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CAAATTGAGGGATCAGAGAGG	0.363000														41			4		0	0	0.009096	0	0
OR6M1	390261	broad.mit.edu	37	11	123676604	123676604	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:123676604G>A	uc010rzz.2	-	0	454	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AACACAGACAGGAAGGCTCCC	0.507000														21			11		0	0	0.010729	0	0
MVK	4598	broad.mit.edu	37	12	110032977	110032977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:110032977C>T	uc001toy.4	+	9	1214	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	MVK_uc009zvk.3_Missense_Mutation_p.L344F|MVK_uc010sxr.2_Missense_Mutation_p.L292F|MVK_uc001toz.4_Missense_Mutation_p.L150F|MVK_uc021rdo.1_Missense_Mutation_p.L346F|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	344					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						CATCACACTCCTCAAGCCAGG	0.642000														36			16		0	0	0.004990	0	0
KRT17	3872	broad.mit.edu	37	17	39777961	39777961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39777961C>T	uc002hxh.2	-	3	839	c.718G>A	c.(718-720)Gag>Aag	p.E240K	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	240	Linker 12.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GCGTCCATCTCCACATTGATC	0.577000														32			9		0	0	0.010729	0	0
COX20	116228	broad.mit.edu	37	1	245006428	245006428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:245006428G>A	uc001iar.3	+	3	685	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	COX20_uc001ias.3_Non-coding_Transcript|COX20_uc001iat.3_Non-coding_Transcript|HNRNPU-AS1_uc001iav.3_Non-coding_Transcript	NM_198076	NP_932342	Q5RI15	FA36A_HUMAN	Homo sapiens family with sequence similarity 36, member A (FAM36A), mRNA.	103						integral to membrane											ATTATATGAAGGTACCCACCT	0.353000														49			18		0	0	0.007413	0	0
TAGAP	117289	broad.mit.edu	37	6	159463166	159463166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:159463166C>T	uc003qrz.3	-	4	591	c.259G>A	c.(259-261)Gat>Aat	p.D87N	TAGAP_uc011eft.2_Missense_Mutation_p.D24N|TAGAP_uc003qsa.3_Intron|TAGAP_uc003qsb.3_Missense_Mutation_p.D87N	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	87					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGGGCTGATCAAATAGCGAT	0.493000														168			12		0	0	0.010729	0	0
IGSF9	57549	broad.mit.edu	37	1	159901633	159901633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159901633C>T	uc001fur.2	-	10	1529	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	IGSF9_uc001fuq.2_Missense_Mutation_p.G428E|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	444	Ig-like 5.					cell junction|integral to membrane|synapse				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)			AGGAGGGTCCCCTTGGGCGGA	0.607000														28			6		0	0	0.001168	0	0
FAT1	2195	broad.mit.edu	37	4	187521125	187521125	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:187521125G>A	uc003izf.3	-	21	12218	c.12030C>T	c.(12028-12030)ttC>ttT	p.F4010F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4010					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGCCGTCAGGAAGCAGCCTG	0.532000										HNSCC(5;0.00058)				58			6		0	0	0.001168	0	0
FAM116B	414918	broad.mit.edu	37	22	50750572	50750573	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:50750572_50750573GG>AA	uc011arv.1	-	19	1825_1826	c.1753_1754CC>TT	c.(1753-1755)ccc>TTc	p.P585F		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	585										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTGTTCTAGGGAGGGCACAAG	0.653000														38			6		0	0	0.004672	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431658	107431658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:107431658C>T	uc003ver.2	-	4	616	c.405G>A	c.(403-405)atG>atA	p.M135I	SLC26A3_uc003ves.2_Missense_Mutation_p.M100I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	135					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTCCCACCATCATACTCAGAA	0.428000														75			18		0	0	0.010504	0	0
KCNH5	27133	broad.mit.edu	37	14	63453887	63453887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:63453887C>T	uc001xfx.3	-	4	503	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	KCNH5_uc001xfy.3_Missense_Mutation_p.R151Q|KCNH5_uc001xfz.1_Missense_Mutation_p.R93Q|KCNH5_uc001xga.3_Missense_Mutation_p.R93Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A150T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGTGTCAATCGGGCAAATTT	0.378000														64			9		0	0	0.004482	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606371	84606371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:84606371C>T	uc004amn.3	+	3	1033	c.986C>T	c.(985-987)tCt>tTt	p.S329F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	329						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GAAATGTTATCTCTAGGTGGC	0.488000														103			14		0	0	0.002450	0	0
SIM1	6492	broad.mit.edu	37	6	100841738	100841738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:100841738C>T	uc003pqj.4	-	9	1662	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SIM1_uc021zdg.1_Missense_Mutation_p.E399K|SIM1_uc010kcu.3_Missense_Mutation_p.E399K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	399	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGATCAGATTCCGATCTTTCT	0.507000														38			4		0	0	0.001168	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895295	42895295	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:42895295G>A	uc003gwt.3	+	0	13	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	4					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGCTTAAAAGGGAGATGAAGC	0.502000														49			8		0	0	0.003080	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344753	38344753	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:38344753C>T	uc010qev.2	+	3	1823	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	ZNF33A_uc001izg.3_Silent_p.T567T|ZNF33A_uc001izh.3_Silent_p.T566T|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.T567T	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	566						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ATAAGTCAACCCTCTCTCAAC	0.398000														68			5		0	0	0.001168	0	0
CNTN5	53942	broad.mit.edu	37	11	100221452	100221452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:100221452G>A	uc001pga.3	+	23	3554	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D	CNTN5_uc021qpb.1_Missense_Mutation_p.G1017D|CNTN5_uc021qpc.1_Missense_Mutation_p.G943D|CNTN5_uc010ruk.2_Missense_Mutation_p.G288D	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1017	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGGCAAGAGGGTCACAGCAAC	0.378000														12			10		0	0	0.006214	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161479	42161479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:42161479C>T	uc002xkn.1	+	4	489	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	L3MBTL1_uc010zwh.2_Missense_Mutation_p.L429F|L3MBTL1_uc002xkm.3_Missense_Mutation_p.L361F|L3MBTL1_uc010ggl.3_Missense_Mutation_p.L361F|L3MBTL1_uc002xkl.3_Missense_Mutation_p.L361F|L3MBTL1_uc002xko.3_Missense_Mutation_p.L13F	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	361					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GAACCCGTCCCTTGTCTGCGT	0.597000														103			21		0	0	0.014323	0	0
OR52I2	143502	broad.mit.edu	37	11	4608387	4608387	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4608387C>T	uc010qyh.2	+	0	367	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCATCTTCTGCTCAGGAG	0.512000														134			11		0	0	0.010729	0	0
MYO15A	51168	broad.mit.edu	37	17	18052889	18052889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:18052889G>A	uc021trm.1	+	33	7426	c.7207G>A	c.(7207-7209)Gat>Aat	p.D2403N	MYO15A_uc021trl.1_Missense_Mutation_p.D2401N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2403	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCCTACGGGGATGCGGTAGG	0.577000														35			6		0	0	0.003080	0	0
TRPC4	7223	broad.mit.edu	37	13	38320170	38320170	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:38320170G>A	uc010abx.3	-	2	1036	c.801C>T	c.(799-801)atC>atT	p.I267I	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.I267I|TRPC4_uc001uws.3_Silent_p.I267I|TRPC4_uc010tey.2_Silent_p.I267I|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.I267I	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	267	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.E266K(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTAAGAATGATTTCCAGTT	0.393000														104			14		0	0	0.001855	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510263	41510263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:41510263G>A	uc002opr.1	+	2	403	c.396G>A	c.(394-396)atG>atA	p.M132I	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.M92I	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	132					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TGACCACTATGAGGGACTTCG	0.562000														17			9		0	0	0.008291	0	0
BRPF3	27154	broad.mit.edu	37	6	36172537	36172537	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36172537C>T	uc003olv.4	+	2	1775	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	BRPF3_uc010jwb.3_Silent_p.V517V|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.V517V	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	517					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGAATGGTGTCCCTCTTATCC	0.522000														117			11		0	0	0.010729	0	0
ZNF554	115196	broad.mit.edu	37	19	2832352	2832352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2832352C>T	uc002lwm.2	+	3	503	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF554_uc002lwl.2_Missense_Mutation_p.S51F	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	102	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)		GGTCCACTTTCCCCAGCACAA	0.438000														83			19		0	0	0.012319	0	0
abParts	0	broad.mit.edu	37	14	106539233	106539233	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106539233C>T	uc021ser.1	-	2082		c.37913G>A								Parts of antibodies, mostly variable regions.																		CCATCCCATCCACTCAAGCCC	0.537000														94			21		0	0	0.012319	0	0
C14orf39	317761	broad.mit.edu	37	14	60903741	60903741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:60903741C>T	uc001xez.4	-	17	1696	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	C14orf39_uc010apo.3_Missense_Mutation_p.G240E	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	529										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)		GCCATCTTCTCCTTCTGGCTT	0.313000														103			17		0	0	0.007413	0	0
RIMS1	22999	broad.mit.edu	37	6	72596847	72596847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:72596847G>A	uc003pga.3	+	0	198	c.121G>A	c.(121-123)Gac>Aac	p.D41N		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	41	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGCAGTGATGGACCGGCAGAA	0.617000														7			4		0	0	0.009096	0	0
MMP16	4325	broad.mit.edu	37	8	89086955	89086955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:89086955C>T	uc003yeb.4	-	6	1382	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	367	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTTTCTCACTCGCCAAAACCA	0.488000														93			7		0	0	0.004482	0	0
TOM1L1	10040	broad.mit.edu	37	17	52990072	52990072	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:52990072C>T	uc002iud.2	+	3	443	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	TOM1L1_uc002iub.3_Silent_p.L55L|TOM1L1_uc002iuc.3_Silent_p.L90L|TOM1L1_uc010dca.1_Silent_p.L90L|TOM1L1_uc010wnb.1_Silent_p.L83L|TOM1L1_uc010wnc.1_Silent_p.L13L|TOM1L1_uc010dbz.2_Silent_p.L13L|TOM1L1_uc010wnd.1_Silent_p.L13L|TOM1L1_uc010dcb.1_5'Flank	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	90	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTTCCAGTCTCTGATTGTGAA	0.323000														47			8		0	0	0.010729	0	0
LTK	4058	broad.mit.edu	37	15	41796328	41796328	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:41796328G>A	uc001zoa.3	-	19	2639	c.2461C>T	c.(2461-2463)Cag>Tag	p.Q821*	LTK_uc001zob.3_Nonsense_Mutation_p.Q760*|LTK_uc010ucx.1_Nonsense_Mutation_p.Q691*|LTK_uc010bcg.2_Nonsense_Mutation_p.Q519*	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	821					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTCAGTTCCTGGGGCTGTGGG	0.607000										TSP Lung(18;0.14)				58			8		0	0	0.003080	0	0
VPS13C	54832	broad.mit.edu	37	15	62204146	62204146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:62204146G>A	uc002agz.3	-	62	8699	c.8608C>T	c.(8608-8610)Ccc>Tcc	p.P2870S	VPS13C_uc002aha.3_Missense_Mutation_p.P2827S|VPS13C_uc002ahb.2_Missense_Mutation_p.P2870S|VPS13C_uc002ahc.2_Missense_Mutation_p.P2827S|VPS13C_uc002ahd.1_Missense_Mutation_p.P247S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2870					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTACAAAAGGGAGTCAGGGTA	0.378000														38			5		0	0	0.000602	0	0
PTBP1	5725	broad.mit.edu	37	19	804074	804074	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:804074C>G	uc002lpr.2	+	3	260	c.154C>G	c.(154-156)Cga>Gga	p.R52G	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.R52G|PTBP1_uc002lpq.2_Missense_Mutation_p.R52G|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	52					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGACAGCCGAAGTGCAGG	0.587000														37			7		0	0	0.003080	0	0
POLN	353497	broad.mit.edu	37	4	2083370	2083370	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2083370G>A	uc003ger.2	-	19	2310	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	POLN_uc010icg.1_Silent_p.F214F|POLN_uc010ich.1_Silent_p.F298F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	766					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGCACCACGAAGTTCACTG	0.567000								DNA polymerases (catalytic subunits)						26			5		0	0	0.000602	0	0
OIT3	170392	broad.mit.edu	37	10	74673144	74673144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:74673144C>T	uc001jte.1	+	5	1087	c.869C>T	c.(868-870)aCc>aTc	p.T290I	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	290	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTCTTCCTGACCAACACCTCC	0.542000														73			10		0	0	0.006214	0	0
CAPN11	11131	broad.mit.edu	37	6	44141081	44141081	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:44141081G>A	uc003owt.1	+	6	827	c.789G>A	c.(787-789)agG>agA	p.R263R		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	263	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCCTTAGGAAGGCCGTGG	0.597000														25			5		0	0	0.000602	0	0
LCP1	3936	broad.mit.edu	37	13	46717441	46717441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:46717441C>T	uc001vaz.4	-	11	1478	c.1352G>A	c.(1351-1353)gGa>gAa	p.G451E	LCP1_uc010ack.3_5'Flank|LCP1_uc001vay.4_Missense_Mutation_p.G48E|LCP1_uc001vba.4_Missense_Mutation_p.G451E	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	451	Actin-binding 2.|CH 3.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CATATTGCCTCCCAGTTTGGG	0.438000			T	BCL6	NHL									46			6		0	0	0.006214	0	0
MYO5C	55930	broad.mit.edu	37	15	52534250	52534250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52534250G>A	uc010bff.3	-	19	2713	c.2551C>T	c.(2551-2553)Cga>Tga	p.R851*	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	851	IQ 4.					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)		CTCACCTTTCGATACCTCCTC	0.552000														129			16		0	0	0.004007	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828691	13828691	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:13828691C>T	uc001rbt.2	-	3	1292	c.1113G>A	c.(1111-1113)agG>agA	p.R371R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	371					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)	TTTCCCACTTCCTCTCCTTGT	0.408000														62			16		0	0	0.004990	0	0
DSEL	92126	broad.mit.edu	37	18	65178609	65178609	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:65178609G>A	uc002lke.1	-	1	4491	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	DSEL_uc021ulg.1_Silent_p.F1089F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1079						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368000														35			4		0	0	0.009096	0	0
PRRX2	51450	broad.mit.edu	37	9	132484531	132484531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:132484531C>T	uc004byh.3	+	3	889	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	Homo sapiens paired related homeobox 2 (PRRX2), mRNA.	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGCTCAGGCCCCGCAACCCCA	0.632000														25			7		0	0	0.003080	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649574	20649574	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20649574C>T	uc001ytg.3	-	17	2644	c.1935G>A	c.(1933-1935)agG>agA	p.R645R	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.R645R|HERC2P3_uc010tyy.2_Silent_p.R645R					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											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						CTTTCCCCATCCTGTAGGAGT	0.592000														173			10		0	0	0.008291	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718154	160718154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160718154C>T	uc001fwq.3	+	1	241	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Missense_Mutation_p.R76C|SLAMF7_uc010pjo.2_Missense_Mutation_p.R76C|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Missense_Mutation_p.R76C|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	76					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GACCCAAAATCGTAATAGGGA	0.468000														26			12		0	0	0.010729	0	0
OR10J3	441911	broad.mit.edu	37	1	159283796	159283796	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159283796G>A	uc010piu.2	-	0	654	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	218					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)					TGAGGACATAGGAGATAAAGA	0.502000														64			8		0	0	0.004482	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764857	40764857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:40764857C>T	uc003jmb.3	-	7	1356	c.1350G>A	c.(1348-1350)tgG>tgA	p.W450*	PRKAA1_uc003jmc.3_Nonsense_Mutation_p.W435*	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	435					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTACCTTCCATTCATAAT	0.294000														21			6		0	0	0.001168	0	0
ITIH2	3698	broad.mit.edu	37	10	7772024	7772024	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7772024G>A	uc001ijs.3	+	11	1551	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	463	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTTTTGAAGAGACTGTCCA	0.363000														65			6		0	0	0.001984	0	0
ZNF143	7702	broad.mit.edu	37	11	9522699	9522699	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:9522699C>T	uc001mhr.3	+	10	1148	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	ZNF143_uc009yfu.3_Silent_p.I342I|ZNF143_uc010rby.2_Silent_p.I312I	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	343					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATCAAATATCAGAAAAGTGC	0.428000														42			12		0	0	0.013537	0	0
ZNF318	24149	broad.mit.edu	37	6	43308624	43308624	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:43308624G>A	uc003oux.3	-	8	3477	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1133					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAATCCACTGATGGGAACCA	0.448000														59			7		0	0	0.001984	0	0
PRPF4	9128	broad.mit.edu	37	9	116038899	116038899	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:116038899T>C	uc004bgx.3	+	1	212	c.102T>C	c.(100-102)agT>agC	p.S34S	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Silent_p.S33S	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	34						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						ATTATGGAAGTTTGGAAGAGA	0.438000														71			5		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175879	140175879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140175879G>A	uc003lhd.2	+	0	1436	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E444K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E444K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	458	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)			CGTGTCCATCGAGGTGGCCGA	0.652000														49			12		0	0	0.013537	0	0
ERC2	26059	broad.mit.edu	37	3	56330403	56330403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:56330403G>A	uc021wzo.1	-	1	858	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	ERC2_uc003dhr.1_Missense_Mutation_p.H240Y	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	240						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)		TGGAGGAGGTGGTTGAGGTCT	0.562000														52			9		0	0	0.006214	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19512471	19512471	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:19512471C>T	uc001reb.3	+	21	3084	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F	PLEKHA5_uc010sie.2_Silent_p.F1153F|PLEKHA5_uc001rea.3_Silent_p.F1050F|PLEKHA5_uc009zin.3_Silent_p.F750F|PLEKHA5_uc010sig.2_Silent_p.F974F|PLEKHA5_uc010sih.1_Silent_p.F947F|PLEKHA5_uc021qvy.1_Silent_p.F981F|PLEKHA5_uc001rec.1_Silent_p.F801F|PLEKHA5_uc009zio.3_Silent_p.F258F	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	992							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGTGGACTTCAGCAAAGAGG	0.358000														11			7		0	0	0.003080	0	0
C1RL	51279	broad.mit.edu	37	12	7249576	7249576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7249576G>A	uc001qsn.3	-	5	968	c.875C>T	c.(874-876)tCt>tTt	p.S292F	C1RL_uc009zft.3_Missense_Mutation_p.L308F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	292	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTCCTGAGAGAAACACTGTC	0.582000														34			9		0	0	0.004482	0	0
LAMC2	3918	broad.mit.edu	37	1	183177070	183177070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:183177070G>A	uc001gqa.2	+	1	448	c.134G>A	c.(133-135)aGa>aAa	p.R45K	LAMC2_uc001gpz.4_Missense_Mutation_p.R45K|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	45	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAACTTCACAGACAAACTGGT	0.448000														193			10		0	0	0.006214	0	0
GTF3C1	2975	broad.mit.edu	37	16	27561109	27561109	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:27561109A>G	uc002dov.2	-	0	143	c.103T>C	c.(103-105)Ttc>Ctc	p.F35L	GTF3C1_uc002dou.3_Missense_Mutation_p.F35L|KIAA0556_uc002dow.3_5'Flank	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	35						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						GGCAGCGGGAAGGGCGGCACT	0.677000														23			6		0	0	0.001984	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874331	74874331	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:74874331G>A	uc001xpx.2	-	3	872	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	208					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTGTGGCTAGGAAGAGGGCCC	0.627000														59			13		0	0	0.003163	0	0
RNASE9	390443	broad.mit.edu	37	14	21024712	21024712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:21024712C>T	uc010ahp.3	-	4	787	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	RNASE9_uc010aho.3_Missense_Mutation_p.E173K|RNASE9_uc001vxq.4_Missense_Mutation_p.E178K|RNASE9_uc010ahq.3_Missense_Mutation_p.E178K|RNASE9_uc010ahr.3_Missense_Mutation_p.E178K|RNASE9_uc010ahs.3_Missense_Mutation_p.E173K|RNASE9_uc010aht.3_Missense_Mutation_p.E173K|RNASE9_uc010ahu.3_Missense_Mutation_p.E173K|RNASE9_uc021rnt.1_Missense_Mutation_p.E173K	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	173						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTTTGCATTTCATTTTGCCAT	0.388000														20			4		0	0	0.009096	0	0
COL4A3	1285	broad.mit.edu	37	2	228159250	228159250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228159250G>A	uc002vom.2	+	38	3544	c.3382G>A	c.(3382-3384)Ggc>Agc	p.G1128S	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1128	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGAATCAAAGGCCTCCTGGG	0.433000														95			24		0	0	0.004656	0	0
MYH1	4619	broad.mit.edu	37	17	10395847	10395847	+	Silent	SNP	C	T	T	rs138386754		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10395847C>T	uc002gmo.3	-	39	5800	c.5706G>A	c.(5704-5706)agG>agA	p.R1902R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1902						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1902R(2)|p.R1901H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGTGCTGGATCCTGCGGAATT	0.488000														55			9		0	0	0.006214	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441539	44441540	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44441539_44441540GG>AA	uc002zcq.1	+	7	1035_1036	c.847_848GG>AA	c.(847-849)ggg>AAg	p.G283K	PKNOX1_uc002zcp.1_Missense_Mutation_p.G283K|PKNOX1_uc011aex.1_Missense_Mutation_p.G166K	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	283							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAGCACATCGGGGTAAGGACG	0.554000														48			9		0	0	0.004672	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816316	26816316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:26816316C>T	uc010wan.2	+	1	254	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Missense_Mutation_p.P19S|SLC13A2_uc002hbh.3_Missense_Mutation_p.P63S|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	63						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGCCCTCTTCCCCTTAATCCT	0.622000														27			9		0	0	0.006214	0	0
C11orf40	143501	broad.mit.edu	37	11	4594648	4594648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4594648C>T	uc010qyg.2	-	1	196	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	66										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGAACACATCCTTATCTAAG	0.433000														31			4		0	0	0.009096	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280605	122280605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:122280605C>T	uc001lev.1	+	4	795	c.443C>T	c.(442-444)tCc>tTc	p.S148F	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.S148F|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.S27F	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	148					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATCCATTCCTCCTGTAAGTTC	0.512000														28			5		0	0	0.000602	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455977	138455977	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138455977G>A	uc003vuf.3	-	1	254	c.16C>T	c.(16-18)Cga>Tga	p.R6*	ATP6V0A4_uc003vug.3_Nonsense_Mutation_p.R6*|ATP6V0A4_uc003vuh.3_Nonsense_Mutation_p.R6*	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	6					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.R6Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCTCGCTTCGAAACACAGAC	0.433000														119			8		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	106866503	106866503	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106866503C>T	uc021ser.1	-	432		c.13717G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCTGCCCTTCCT	0.517000														89			7		0	0	0.001984	0	0
MORC4	79710	broad.mit.edu	37	X	106184802	106184802	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:106184802G>A	uc004emu.4	-	16	2996	c.2721C>T	c.(2719-2721)ctC>ctT	p.L907L	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.P895S|MORC4_uc004emw.4_Missense_Mutation_p.P643S	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	907							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CCAAGTGAGGGAGGACAGAAG	0.522000														18			9		0	0	0.006214	0	0
GPR112	139378	broad.mit.edu	37	X	135429806	135429806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135429806C>T	uc004ezu.1	+	5	4232	c.3941C>T	c.(3940-3942)tCg>tTg	p.S1314L	GPR112_uc010nsb.1_Missense_Mutation_p.S1109L|GPR112_uc010nsc.1_Missense_Mutation_p.S1081L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1314					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1314L(2)		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)					CAAACACATTCGCCTTCAGAG	0.433000														19			11		0	0	0.013537	0	0
ATP10B	23120	broad.mit.edu	37	5	160047949	160047949	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:160047949G>A	uc003lym.1	-	14	2668	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.3_Silent_p.I165I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	607					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)			TTGAGGGTTTGATGGTGACCT	0.448000														135			36		0	0	0.006230	0	0
PCLO	27445	broad.mit.edu	37	7	82595698	82595698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:82595698G>A	uc003uhx.2	-	3	3695	c.3406C>T	c.(3406-3408)Cct>Tct	p.P1136S	PCLO_uc003uhv.2_Missense_Mutation_p.P1136S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1075					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						ACAGGCATAGGAGATGCTTTG	0.433000														83			10		0	0	0.008291	0	0
CREB3L2	64764	broad.mit.edu	37	7	137567335	137567335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:137567335G>A	uc003vtw.3	-	10	1706	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	CREB3L2_uc003vtv.3_Missense_Mutation_p.P374L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	437					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P437S(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCCTCTGGGGGAGAATGTTC	0.582000			T	FUS	fibromyxoid sarcoma									27			6		0	0	0.003080	0	0
CACNG3	10368	broad.mit.edu	37	16	24372779	24372779	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24372779C>T	uc002dmf.3	+	3	1745	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	181					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCTTTTATTTCGGAGCCTTCT	0.458000														124			11		0	0	0.008291	0	0
SYT10	341359	broad.mit.edu	37	12	33579224	33579224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:33579224C>T	uc001rll.1	-	1	655	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	120						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCTGGCTTTTCATTTTCCTTA	0.398000														87			19		0	0	0.010504	0	0
FBXL14	144699	broad.mit.edu	37	12	1675932	1675932	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:1675932C>T	uc001qjh.3	-	1	1338	c.1239G>A	c.(1237-1239)cgG>cgA	p.R413R		NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 14 (FBXL14), mRNA.	413						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			tggagcttccccgagttctca	0.537000														67			5		0	0	0.001168	0	0
VN1R5	317705	broad.mit.edu	37	1	247419878	247419878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247419878C>T	uc010pyu.2	+	1	502	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	169					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			AGGATTCTTCCTTTTCTCATG	0.512000														183			9		0	0	0.004482	0	0
ADC	113451	broad.mit.edu	37	1	33562307	33562307	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33562307G>A	uc009vug.3	+	6	826	c.754_splice	c.e6-1	p.I252_splice	ADC_uc001bwr.3_Splice_Site_p.I252_splice|ADC_uc001bws.3_Splice_Site_p.I252_splice|ADC_uc009vue.3_Splice_Site_p.I252_splice|ADC_uc001bwt.1_Splice_Site_p.I157_splice|ADC_uc001bwu.3_Splice_Site_p.I157_splice|ADC_uc001bwv.3_Splice_Site_p.I157_splice|ADC_uc001bwx.1_Splice_Site_p.I229_splice|ADC_uc009vuf.1_Splice_Site_p.I94_splice|ADC_uc001bwy.1_Splice_Site_p.I101_splice|ADC_uc001bwz.1_Splice_Site_p.I252_splice	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	252					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTCCTACCAGATTGCTTCCG	0.502000														33			11		0	0	0.010729	0	0
ZNF521	25925	broad.mit.edu	37	18	22806712	22806712	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:22806712G>A	uc002kvk.2	-	3	1417	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.T390T|ZNF521_uc002kvl.2_Silent_p.T170T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	390					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCATGTCAGGGGTTTGTTGAG	0.493000			T	PAX5	ALL									56			5		0	0	0.001984	0	0
TFPI	7035	broad.mit.edu	37	2	188332622	188332622	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:188332622G>C	uc002upy.3	-	6	961	c.666C>G	c.(664-666)gaC>gaG	p.D222E		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	222	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACAATCCTCTGTCTGCTGGAG	0.423000														32			5		0	0	0.001168	0	0
HTR1D	3352	broad.mit.edu	37	1	23520593	23520594	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:23520593_23520594GG>AA	uc001bgn.3	-	0	629_630	c.119_120CC>TT	c.(118-120)tcc>tTT	p.S40F		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	40					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCACGGCAAGGGAGATCTTGAG	0.579000														78			6		0	0	0.004672	0	0
ZNF287	57336	broad.mit.edu	37	17	16455190	16455190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:16455190C>T	uc021trd.1	-	5	2884	c.2266G>A	c.(2266-2268)Ggt>Agt	p.G756S	ZNF287_uc002gqi.2_Missense_Mutation_p.G756S	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	749					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGTTTGGCACCTGTATGAACA	0.378000														90			9		0	0	0.006214	0	0
NLRP3	114548	broad.mit.edu	37	1	247587588	247587588	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247587588C>T	uc001icr.3	+	4	981	c.843C>T	c.(841-843)ccC>ccT	p.P281P	NLRP3_uc001ics.3_Silent_p.P281P|NLRP3_uc001icu.3_Silent_p.P281P|NLRP3_uc001icw.3_Silent_p.P281P|NLRP3_uc001icv.3_Silent_p.P281P|NLRP3_uc010pyw.2_Silent_p.P279P|NLRP3_uc001ict.1_Silent_p.P279P	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	281	NACHT.				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)			GCTGCTGCCCCGACCCAAACC	0.537000														38			13		0	0	0.013537	0	0
LRP5	4041	broad.mit.edu	37	11	68201134	68201134	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:68201134G>A	uc001ont.3	+	17	3903	c.3828G>A	c.(3826-3828)ggG>ggA	p.G1276G	LRP5_uc009ysg.3_Silent_p.G686G	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1276	LDL-receptor class A 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.P1275P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTATCCCCGGGGCCTGGCGCT	0.687000														88			29		0	0	0.007291	0	0
FKTN	2218	broad.mit.edu	37	9	108370212	108370212	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:108370212G>T	uc004bcr.3	+	6	976	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	FKTN_uc011lvx.2_Nonsense_Mutation_p.E254*|FKTN_uc004bcs.3_Nonsense_Mutation_p.E254*|FKTN_uc011lvy.2_Nonsense_Mutation_p.E254*|FKTN_uc010mtm.3_Nonsense_Mutation_p.E122*	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	254					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity	p.E254K(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TAGGTATAAAGAAGCTCGAGC	0.353000														34			7		2.7689e-08	2.88164e-08	0.001984	1	0
PMS2	5395	broad.mit.edu	37	7	6026496	6026496	+	Missense_Mutation	SNP	G	A	A	rs144489994		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:6026496G>A	uc003spl.3	-	10	1987	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y	PMS2_uc003spj.3_Missense_Mutation_p.H528Y|PMS2_uc003spk.3_Missense_Mutation_p.H499Y|PMS2_uc011jwl.2_Missense_Mutation_p.H499Y|PMS2_uc010ktg.3_Missense_Mutation_p.H323Y|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	634					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTGCTTCATGATGTAACTGC	0.398000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					85			15		0	0	0.004007	0	0
ROS1	6098	broad.mit.edu	37	6	117708132	117708132	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117708132T>C	uc003pxp.1	-	13	2244	c.2045A>G	c.(2044-2046)aAa>aGa	p.K682R	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	682					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCCATCTTCTTTCACAGCCAT	0.368000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									63			8		0	0	0.006214	0	0
DAGLA	747	broad.mit.edu	37	11	61487708	61487708	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:61487708C>T	uc001nsa.3	+	1	197	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	27					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCTCTTTCTCCTGCATACCA	0.627000														49			6		0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21657383	21657383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:21657383G>A	uc003svc.3	+	22	4288	c.4257G>A	c.(4255-4257)atG>atA	p.M1419I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1419	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCAGCTGATGAAAGCTATTG	0.488000									Kartagener syndrome					29			4		0	0	0.000602	0	0
SLC43A3	29015	broad.mit.edu	37	11	57156616	57156616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57156616G>A	uc001nkc.3	-	2	307	c.233C>T	c.(232-234)tCa>tTa	p.S78L	SLC43A3_uc001nkd.3_Missense_Mutation_p.S78L|SLC43A3_uc001nke.3_Missense_Mutation_p.S358L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATCTGGCACTGAGATAGACTC	0.557000														87			11		0	0	0.013537	0	0
GBP1	2633	broad.mit.edu	37	1	89528828	89528828	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:89528828G>A	uc001dmx.2	-	1	310	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	30					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGGCAGAAAGGATCTTCAGAG	0.512000														79			17		0	0	0.004990	0	0
SI	6476	broad.mit.edu	37	3	164767590	164767590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164767590G>A	uc003fei.3	-	13	1649	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	529	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	p.P528L(1)|p.P529P(1)		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)	AGGAGTAAACGGTGGATAATT	0.279000										HNSCC(35;0.089)				45			9		0	0	0.006214	0	0
GPR179	440435	broad.mit.edu	37	17	36485159	36485159	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:36485159C>T	uc002hpz.3	-	10	4314	c.4293G>A	c.(4291-4293)gaG>gaA	p.E1431E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1431						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)				AATCTGTACTCTCCCATGGAC	0.517000														45			13		0	0	0.013537	0	0
TRANK1	9881	broad.mit.edu	37	3	36896923	36896923	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36896923G>A	uc003cgj.3	-	11	4406	c.4158C>T	c.(4156-4158)tcC>tcT	p.S1386S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1386					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTCGTGGATGGACCATGGGA	0.498000														95			14		0	0	0.003163	0	0
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:69697274C>T	uc001xky.3	+	4	922	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	EXD2_uc001xkt.3_Missense_Mutation_p.R101C|EXD2_uc001xkv.3_Missense_Mutation_p.R226C|EXD2_uc001xkw.3_Missense_Mutation_p.R101C|EXD2_uc001xku.3_5'UTR|EXD2_uc001xkx.3_Missense_Mutation_p.R101C|EXD2_uc010aqt.3_Missense_Mutation_p.R226C|EXD2_uc010tte.2_Missense_Mutation_p.R226C	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	101					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.R226G(2)|p.R101G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423000														71			9		0	0	0.006214	0	0
KIF1B	23095	broad.mit.edu	37	1	10316344	10316344	+	Missense_Mutation	SNP	C	T	T	rs143654307		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:10316344C>T	uc001aqx.4	+	2	348	c.146C>T	c.(145-147)tCc>tTc	p.S49F	KIF1B_uc001aqv.4_Missense_Mutation_p.S49F|KIF1B_uc001aqw.4_Missense_Mutation_p.S49F|KIF1B_uc001aqy.3_Missense_Mutation_p.S49F|KIF1B_uc001aqz.3_Missense_Mutation_p.S49F|KIF1B_uc001ara.3_Missense_Mutation_p.S49F|KIF1B_uc001arb.3_Missense_Mutation_p.S49F|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	49	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAAAGTCCTTCAGCTTC	0.403000														47			12		0	0	0.013537	0	0
OR1J2	26740	broad.mit.edu	37	9	125273119	125273119	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125273119C>T	uc011lyv.2	+	0	39	c.39C>T	c.(37-39)ctC>ctT	p.L13L	OR1J2_uc004bmj.2_Silent_p.L13L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCGAGTTCCTCCTTCTGGGCC	0.547000														88			12		0	0	0.001855	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720183	160720183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160720183C>T	uc001fwq.3	+	3	754	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	SLAMF7_uc010pjn.2_Missense_Mutation_p.L153F|SLAMF7_uc001fws.3_Missense_Mutation_p.L140F|SLAMF7_uc001fwr.3_Missense_Mutation_p.L247F|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	247					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGGCTATTTCTTTGGTTTCT	0.468000														157			18		0	0	0.007413	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366085	47366085	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47366085C>T	uc001cqo.1	-	0		c.63G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GCCATGAGTTCCTGAAGCCAG	0.537000														14			6		0	0	0.001168	0	0
OR6C70	390327	broad.mit.edu	37	12	55863266	55863266	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:55863266G>A	uc010spn.2	-	0	657	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTGTCTTGATGATGTAAGAGT	0.373000														79			20		0	0	0.002780	0	0
IGSF3	3321	broad.mit.edu	37	1	117156498	117156498	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:117156498G>A	uc001egq.1	-	3	1426	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	IGSF3_uc001egr.1_Nonsense_Mutation_p.Q241*	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	241	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AATTCGCCCTGGTCAGAAGGC	0.627000														29			5		0	0	0.000602	0	0
ABCA5	23461	broad.mit.edu	37	17	67247981	67247981	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:67247981T>C	uc002jif.2	-	33	5660	c.4442A>G	c.(4441-4443)aAc>aGc	p.N1481S	ABCA5_uc002jib.2_Missense_Mutation_p.N447S|ABCA5_uc002jic.2_Missense_Mutation_p.N704S|ABCA5_uc002jid.2_Missense_Mutation_p.N398S|ABCA5_uc002jie.2_Intron|ABCA5_uc002jig.2_Missense_Mutation_p.N1481S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1481	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCGCTTTCTGTTTTTAAATGC	0.388000														36			3		0	0	0.004672	0	0
ODZ3	55714	broad.mit.edu	37	4	183664394	183664394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:183664394G>A	uc003ivd.1	+	17	3526	c.3451G>A	c.(3451-3453)Ggc>Agc	p.G1151S	ODZ3_uc003ive.1_Missense_Mutation_p.G557S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1151					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)		TAGCATCATGGGCAATGGGCG	0.507000														21			13		0	0	0.002450	0	0
CADPS	8618	broad.mit.edu	37	3	62636752	62636752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:62636752G>A	uc003dll.2	-	4	1333	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	CADPS_uc003dlm.2_Missense_Mutation_p.R325C|CADPS_uc003dln.2_Missense_Mutation_p.R325C|CADPS_uc021wzv.1_Missense_Mutation_p.R325C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	325					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAAATTTGCGTTCCTTGGGA	0.413000														54			9		0	0	0.004482	0	0
ZNF606	80095	broad.mit.edu	37	19	58490285	58490285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58490285C>T	uc002qqw.3	-	6	2381	c.1763G>A	c.(1762-1764)aGa>aAa	p.R588K	ZNF606_uc010yhp.2_Missense_Mutation_p.R498K	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q587E(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CGTGTGAGTTCTCTGATGGGC	0.408000														68			5		0	0	0.001168	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725214	140725214	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140725214G>A	uc003ljm.2	+	0	1614	c.1614G>A	c.(1612-1614)ggG>ggA	p.G538G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.G538G	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	540	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R537P(1)|p.R537Q(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)			GCGACAGCGGGAACCCTCCAC	0.567000														81			18		0	0	0.008871	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847269	83847269	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:83847269T>A	uc011dyy.2	+	20	3741	c.3481T>A	c.(3481-3483)Tca>Aca	p.S1161T	DOPEY1_uc003pjs.1_Missense_Mutation_p.S1170T|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1161T|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1170					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAATCTGCATCAGTTACATC	0.398000														28			9		0	0	0.013537	0	0
DISP1	84976	broad.mit.edu	37	1	223177902	223177902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223177902C>T	uc001hnu.2	+	9	3489	c.3163C>T	c.(3163-3165)Cat>Tat	p.H1055Y		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1055					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTGCCGTCCATTATGGGGT	0.562000														550			43		0	0	0.009718	0	0
PARS2	25973	broad.mit.edu	37	1	55224553	55224553	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55224553G>A	uc021ont.1	-	0	282	c.282C>T	c.(280-282)acC>acT	p.T94T	PARS2_uc001cxy.3_Silent_p.T94T	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	94					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCACGGACGGTATATGGCA	0.597000														37			9		0	0	0.006214	0	0
JMJD1C	221037	broad.mit.edu	37	10	64975342	64975342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64975342G>A	uc001jmn.3	-	5	1093	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	JMJD1C_uc001jml.3_Missense_Mutation_p.R46C|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_Missense_Mutation_p.R83C|JMJD1C_uc009xpi.3_Missense_Mutation_p.R83C|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	265					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGATTGGCACGAGACCTGCGT	0.373000														48			5		0	0	0.001984	0	0
CNGB1	1258	broad.mit.edu	37	16	58001095	58001095	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:58001095C>T	uc002emt.2	-	1	161	c.96G>A	c.(94-96)gaG>gaA	p.E32E	CNGB1_uc010cdh.2_Silent_p.E32E|CNGB1_uc002emu.2_Silent_p.E32E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	32	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCGCCTCCATCTCTGGCTCTG	0.637000														32			4		0	0	0.001168	0	0
GBP6	163351	broad.mit.edu	37	1	89845982	89845982	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:89845982G>A	uc001dnf.2	+	5	937	c.663G>A	c.(661-663)agG>agA	p.R221R	GBP6_uc010ost.1_Silent_p.R91R	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	221							GTP binding|GTPase activity	p.P220L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTTCCCAGGGAGTGCATCA	0.408000														45			15		0	0	0.004007	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825817	64825817	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64825817C>T	uc001ocn.3	-	0	193	c.177G>A	c.(175-177)gaG>gaA	p.E59E	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	59					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACCTGAGGTTCTCCCGGATCC	0.637000														27			5		0	0	0.001168	0	0
CCDC73	493860	broad.mit.edu	37	11	32739681	32739681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:32739681G>A	uc001mtv.3	-	2	192	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	CCDC73_uc001mtw.1_Missense_Mutation_p.H50Y|CCDC73_uc009yjt.3_Missense_Mutation_p.H50Y	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	50										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)					TCTTCATAATGAATTTCTGCT	0.338000														86			13		0	0	0.002450	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75741450	75741450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:75741450C>T	uc001sxo.3	+	2	515	c.469C>T	c.(469-471)Cct>Tct	p.P157S	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Missense_Mutation_p.P157S	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	157						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TGCAATGTGTCCTAACCTTGG	0.333000														84			6		0	0	0.001984	0	0
ERG	2078	broad.mit.edu	37	21	39755711	39755711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:39755711C>T	uc010gnw.3	-	11	1370	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.G352R|ERG_uc011aek.2_Missense_Mutation_p.G260R|ERG_uc010gnv.3_Missense_Mutation_p.G236R|ERG_uc010gnx.3_Missense_Mutation_p.G335R|ERG_uc011ael.2_Missense_Mutation_p.G359R|ERG_uc002yxb.3_Missense_Mutation_p.G335R	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	359					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TTCCGCTCTCCCCAGCGCCGG	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									49			8		0	0	0.004482	0	0
FAM55C	91775	broad.mit.edu	37	3	101535694	101535694	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:101535694T>A	uc003dvn.3	+	6	1615	c.978T>A	c.(976-978)taT>taA	p.Y326*	FAM55C_uc010hpn.3_Nonsense_Mutation_p.Y326*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	326						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CTGGGTATTATTATAAAGACC	0.353000														43			4		0	0	0.009096	0	0
GNAL	2774	broad.mit.edu	37	18	11872339	11872339	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:11872339G>A	uc002kqc.2	+	9	1531	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	GNAL_uc002kqd.2_Silent_p.G291G|GNAL_uc010dkz.2_Silent_p.G291G|GNAL_uc010wzt.1_Silent_p.G84G	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	291					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCTTGGCAGGGAAATCAAAAA	0.323000														71			6		0	0	0.001168	0	0
EFCAB7	84455	broad.mit.edu	37	1	64038177	64038177	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:64038177T>C	uc001dbf.3	+	13	2174	c.1880T>C	c.(1879-1881)cTt>cCt	p.L627P		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	627							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ATATATTCTCTTATTTCTTAA	0.254000														12			3		0	0	0.009096	0	0
NAIP	4671	broad.mit.edu	37	5	70308397	70308397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:70308397C>T	uc003kar.1	-	3	1064	c.346G>A	c.(346-348)Gac>Aac	p.D116N	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.D116N|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	116					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTGTGGTCTTCTATGGGG	0.488000														77			5		0	0	0.001168	0	0
NOVA1	4857	broad.mit.edu	37	14	26917315	26917315	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:26917315G>A	uc001wqa.3	-	5	1794	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NOVA1_uc001wpy.3_Silent_p.S458S|NOVA1_uc001wpz.3_Silent_p.S434S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	461	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTCCTTTTTTGGAGATCTGTA	0.428000														27			6		0	0	0.001168	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947288	33947288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33947288G>A	uc003jid.3	-	5	1440	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	SLC45A2_uc003jie.3_Missense_Mutation_p.H450Y	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	450					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TCCTCGCGGTGGTACTCAGTA	0.517000														117			33		0	0	0.004289	0	0
CXCR7	57007	broad.mit.edu	37	2	237489756	237489756	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:237489756C>T	uc021vys.1	+	0	648	c.648C>T	c.(646-648)tcC>tcT	p.S216S	CXCR7_uc010fyq.3_Silent_p.S216S|CXCR7_uc002vwd.3_Silent_p.S216S	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	216					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AGCTGGTCTCCGTTGTCTTGG	0.572000														62			10		0	0	0.006214	0	0
TLL1	7092	broad.mit.edu	37	4	166946578	166946578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:166946578G>A	uc003irh.2	+	8	1800	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	TLL1_uc021xud.1_Missense_Mutation_p.E385K|TLL1_uc011cjn.2_Missense_Mutation_p.E385K|TLL1_uc011cjo.2_Missense_Mutation_p.E209K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	385	CUB 1.				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)		GACCCCAGGGGAGAAGGTAGT	0.388000														44			5		0	0	0.000602	0	0
PRB3	5544	broad.mit.edu	37	12	11420548	11420548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11420548C>T	uc001qzs.3	-	2	673	c.635G>A	c.(634-636)gGa>gAa	p.G212E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	212	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.622000														245			28		0	0	0.014410	0	0
ARGFX	503582	broad.mit.edu	37	3	121303897	121303897	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121303897G>A	uc003eef.3	+	3	449	c.354G>A	c.(352-354)ccG>ccA	p.P118P		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCGACCTACCGGAGTCAACAG	0.512000														52			8		0	0	0.003080	0	0
ADH1C	126	broad.mit.edu	37	4	100268961	100268961	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100268961G>A	uc021xqi.1	-	1		c.146C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATGGAAAAGGGTTTCTTTAAC	0.388000														46			5		0	0	0.001984	0	0
HMCN1	83872	broad.mit.edu	37	1	186099733	186099734	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:186099733_186099734CC>TT	uc001grq.1	+	84	13363_13364	c.13134_13135CC>TT	c.(13132-13137)acccca>acTTca	p.P4379S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4379	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGACCCCACCCCAACCATCCA	0.485000														72			11		0	0	0.004672	0	0
MGAM	8972	broad.mit.edu	37	7	141762404	141762404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141762404C>T	uc003vwy.3	+	34	4213	c.4159C>T	c.(4159-4161)Cgt>Tgt	p.R1387C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1387	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)	AGACTTTTTCCGTAATTCAAC	0.388000														10			5		0	0	0.001168	0	0
UNC5B	219699	broad.mit.edu	37	10	73050839	73050839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:73050839C>T	uc001jro.3	+	8	1718	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	UNC5B_uc001jrp.3_Missense_Mutation_p.P412S	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	423					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						TGGTTTCCACCCCGTCAACTT	0.592000														145			22		0	0	0.002780	0	0
FLT4	2324	broad.mit.edu	37	5	180055958	180055958	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:180055958G>A	uc003mlz.4	-	7	1106	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	FLT4_uc003mma.4_Silent_p.L343L|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.L343L|FLT4_uc011dgz.1_Silent_p.S286S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	343	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGCCTCCAGGATGGGTCCT	0.622000														27			6		0	0	0.001984	0	0
DBH	1621	broad.mit.edu	37	9	136505108	136505108	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:136505108C>T	uc004cel.3	+	1	489	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	160	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGGATTACCTCATTGAAGTAA	0.587000														24			4		0	0	0.000602	0	0
OSBP2	23762	broad.mit.edu	37	22	31091213	31091213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:31091213C>T	uc003aiy.1	+	0	421	c.317C>T	c.(316-318)cCg>cTg	p.P106L	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.P106L|OSBP2_uc011alb.1_Missense_Mutation_p.P106L|OSBP2_uc003aiz.1_Missense_Mutation_p.P106L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	106					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGTCGCGGCCGGGGTCAGAG	0.677000														49			11		0	0	0.001855	0	0
THSD4	79875	broad.mit.edu	37	15	71535002	71535002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:71535002G>A	uc002atb.1	+	3	558	c.479G>A	c.(478-480)gGt>gAt	p.G160D	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	160	TSP type-1 1.					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						AGGACCCGTGGTACCATTGGC	0.512000														194			18		0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126411233	126411233	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126411233G>A	uc003ifj.4	+	16	13256	c.13256G>A	c.(13255-13257)tGg>tAg	p.W4419*	FAT4_uc011cgp.2_Nonsense_Mutation_p.W2660*|FAT4_uc003ifi.1_Nonsense_Mutation_p.W1896*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4419					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTAATCAGTGGTATGCCTAC	0.577000														88			33		0	0	0.010818	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852243	20852243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:20852243C>T	uc021xmt.1	-	2	331	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	KCNIP4_uc003gqe.2_Missense_Mutation_p.E54K|KCNIP4_uc003gqf.1_Missense_Mutation_p.E50K|KCNIP4_uc003gqg.1_Missense_Mutation_p.E9K|KCNIP4_uc003gqh.1_Missense_Mutation_p.E46K|KCNIP4_uc003gqi.1_Missense_Mutation_p.E9K|KCNIP4_uc021xmu.1_Missense_Mutation_p.E37K|KCNIP4_uc021xms.1_Missense_Mutation_p.E34K	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	71	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	p.Y70*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCAAGGGCTTCAGGCCGATGC	0.468000														31			16		0	0	0.004990	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833142	31833142	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31833142G>A	uc010jti.3	-	16	1776	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Silent_p.F494F|SLC44A4_uc011dom.2_Silent_p.F528F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	570						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTGAGACACAGAAATTCTTCC	0.557000														404			48		0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34189802	34189802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34189802C>T	uc001bxm.1	-	18	3173	c.2996G>A	c.(2995-2997)gGc>gAc	p.G999D	CSMD2_uc001bxn.1_Missense_Mutation_p.G959D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	959	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCACCCTTGCCATGAGATGT	0.527000														67			10		0	0	0.006214	0	0
AXIN2	8313	broad.mit.edu	37	17	63554133	63554134	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:63554133_63554134AC>TT	uc002jfi.3	-	1	894_895	c.605_606GT>AA	c.(604-606)agt>aAA	p.S202K	AXIN2_uc010den.1_Missense_Mutation_p.S202K|AXIN2_uc002jfh.3_Missense_Mutation_p.S202K|AXIN2_uc002jfj.1_Missense_Mutation_p.S202K	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	202					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTTCTCCCCCACTCCTCACATA	0.485000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					60			11		0	0	0.004672	0	0
ATP5G2	517	broad.mit.edu	37	12	54069842	54069843	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54069842_54069843CC>TT	uc001sec.3	-	0	267_268	c.134_135GG>AA	c.(133-135)ggg>gAA	p.G45E	ATP5G2_uc001sed.3_Intron|ATP5G2_uc009znc.3_Intron	NM_005176	NP_005167	Q06055	AT5G2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) (ATP5G2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTACCTGCTCCCACTGCAGAG	0.649000											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			4		0	0	0.004672	0	0
HAUS8	93323	broad.mit.edu	37	19	17186219	17186219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17186219G>A	uc002nfe.3	-	0	125	c.14C>T	c.(13-15)tCg>tTg	p.S5L	HAUS8_uc002nff.3_Missense_Mutation_p.S5L|MYO9B_uc002nfi.3_5'Flank|MYO9B_uc010eak.3_5'Flank	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	5					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GCCTCGCCCCGAGGAATCCGC	0.647000														27			4		0	0	0.000602	0	0
CACNA1S	779	broad.mit.edu	37	1	201012616	201012616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201012616C>T	uc001gvv.3	-	39	5068	c.4841G>A	c.(4840-4842)aGg>aAg	p.R1614K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1614					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)	GGAGTTGGTCCTTTCCAGGAA	0.592000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			7		0	0	0.001984	0	0
ACSS1	84532	broad.mit.edu	37	20	24993469	24993469	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:24993469G>A	uc002wub.3	-	10	1766	c.1686C>T	c.(1684-1686)acC>acT	p.T562T	ACSS1_uc002wuc.3_Silent_p.T560T|ACSS1_uc021wbm.1_Silent_p.T562T|ACSS1_uc010gdc.3_Silent_p.T357T|ACSS1_uc002wua.3_Silent_p.T479T|ACSS1_uc021wbl.1_Silent_p.T441T|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	562					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAATCTCTGCGGTCCCCAGCC	0.597000														54			5		0	0	0.000602	0	0
TDRKH	11022	broad.mit.edu	37	1	151748309	151748309	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151748309C>T	uc009wnb.1	-	8	1451	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R	TDRKH_uc001eyy.2_Silent_p.R199R|TDRKH_uc001ezb.4_Silent_p.R419R|TDRKH_uc001ezc.4_Silent_p.R378R|TDRKH_uc001eza.4_Silent_p.R423R|TDRKH_uc001ezd.4_Silent_p.R423R|TDRKH_uc010pdn.1_Silent_p.R199R	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	423							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGAGCAATCCGTGCCAGAC	0.408000														92			37		0	0	0.009718	0	0
TAF5L	27097	broad.mit.edu	37	1	229738452	229738452	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:229738452C>G	uc001htq.3	-	3	628	c.462G>C	c.(460-462)aaG>aaC	p.K154N	TAF5L_uc001htr.3_Missense_Mutation_p.K154N	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	154					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGCTCGAAGCTTGAAGTTAG	0.473000														103			14		0	0	0.003163	0	0
DMBT1	1755	broad.mit.edu	37	10	124389489	124389489	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124389489C>T	uc001lgk.1	+	43	5521	c.5415C>T	c.(5413-5415)aaC>aaT	p.N1805N	DMBT1_uc001lgl.1_Silent_p.N1795N|DMBT1_uc001lgm.1_Silent_p.N1177N|DMBT1_uc021qaf.1_Silent_p.N1805N|DMBT1_uc021qag.1_Silent_p.N1795N|DMBT1_uc021qah.1_Silent_p.N1177N|DMBT1_uc009xzz.1_Silent_p.N1805N|DMBT1_uc010qtx.1_Silent_p.N525N|DMBT1_uc009yab.1_Silent_p.N508N|DMBT1_uc009yac.1_Silent_p.N99N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1805	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCGCATAAACCTGGGCTTCA	0.498000														101			7		0	0	0.004482	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696584	69696584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69696584G>A	uc003hee.3	+	5	1599	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	UGT2B10_uc011cam.2_Missense_Mutation_p.G441E	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	525					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G525L(3)|p.G525V(3)|p.G525*(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGAAAGAAGGGAAAAAGGGAT	0.378000														47			7		0	0	0.001984	0	0
COL4A1	1282	broad.mit.edu	37	13	110829287	110829287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:110829287C>T	uc001vqw.4	-	33	2936	c.2814G>A	c.(2812-2814)atG>atA	p.M938I		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	938	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)			CCACCTTATCCATGGAGCCAG	0.587000														65			11		0	0	0.010729	0	0
TTC17	55761	broad.mit.edu	37	11	43465731	43465732	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:43465731_43465732CC>TT	uc001mxi.3	+	17	2707_2708	c.2637_2638CC>TT	c.(2635-2640)ggcccc>ggTTcc	p.P880S	TTC17_uc001mxh.3_Missense_Mutation_p.P937S|TTC17_uc010rfj.2_Missense_Mutation_p.P880S|TTC17_uc001mxj.3_Missense_Mutation_p.P707S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	880							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGATCACTGGCCCCAAGGTGGC	0.396000														28			5		0	0	0.004672	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884047	228884047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228884047C>T	uc002vpq.2	-	6	1570	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G508E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G508E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	508						cytoplasm	protein binding			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)		GGAAATAGTTCCAATCACAGT	0.522000														18			5		0	0	0.000602	0	0
SPINK13	153218	broad.mit.edu	37	5	147665576	147665576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:147665576C>T	uc003lpc.3	+	4	453	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	84	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ATTTCATTATCGTATAAAATT	0.269000														44			5		0	0	0.000602	0	0
RFPL1	5988	broad.mit.edu	37	22	29837868	29837868	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29837868C>T	uc003afn.3	+	1	920	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	237	B30.2/SPRY.						zinc ion binding	p.F237F(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTTTCCTCTTCGTAGACCGCA	0.512000														71			22		0	0	0.002780	0	0
HOXB8	3218	broad.mit.edu	37	17	46690569	46690569	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:46690569T>G	uc002inw.3	-	1	962	c.727A>C	c.(727-729)Aag>Cag	p.K243Q	HOXB7_uc002inv.3_5'Flank	NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GAAGCCTACTTCTTGTCGCCC	0.736000														70			6		0	0	0.001168	0	0
GSTT2	2953	broad.mit.edu	37	22	24323179	24323179	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24323179G>A	uc002zzb.4	+	1	228	c.153G>A	c.(151-153)ctG>ctA	p.L51L	DDT_uc002zza.4_5'Flank|GSTT2_uc002zzc.4_Silent_p.L51L	NM_000854	NP_001074312	P0CG30	GSTT2_HUMAN	Homo sapiens glutathione S-transferase theta 2 (GSTT2), mRNA.	51	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						TCAACAGCCTGGGGAAACTGC	0.542000														90			36		0	0	0.014410	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719487	40719487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:40719487C>T	uc002ona.3	+	8	2189	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	634					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCGACCCCGTCCTACCTCTCA	0.746000														16			4		0	0	0.009096	0	0
GPSM2	29899	broad.mit.edu	37	1	109428193	109428193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:109428193C>T	uc010ovc.2	+	1	545	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R17C|GPSM2_uc010ove.1_Missense_Mutation_p.R17C	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	17					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTTTCATGTTCGTTACAGGTA	0.294000														398			40		0	0	0.014410	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509130	106509130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:106509130G>A	uc003vdv.4	+	1	1209	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	PIK3CG_uc003vdu.3_Missense_Mutation_p.R375Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.R375Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	375					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCCTGCCTCGGAACACCGAC	0.557000														46			11		0	0	0.013537	0	0
THOC7	80145	broad.mit.edu	37	3	63823658	63823658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:63823658G>A	uc003dlt.4	-	3	477	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Missense_Mutation_p.R53C	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA.	116	Interaction with NIF3L1.|Interaction with THOC5.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex|cytoplasm	RNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTACCTTGGCGATTTTTTCGT	0.348000														53			11		0	0	0.010729	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561707	145561707	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145561707G>T	uc001eob.1	+	9	1503	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N	ANKRD35_uc010oyx.1_Missense_Mutation_p.K308N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	465										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGTCAGAAGGAGAGTTCCC	0.567000														72			8		1.06961e-07	1.11166e-07	0.003080	1	0
NPAS4	266743	broad.mit.edu	37	11	66192534	66192534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:66192534G>A	uc001ohx.1	+	6	2349	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	NPAS4_uc010rpc.1_Missense_Mutation_p.E515K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	725					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCCAGTGAGGAATGGGGCTC	0.602000														51			15		0	0	0.003163	0	0
ENPP1	5167	broad.mit.edu	37	6	132176142	132176142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132176142C>T	uc011ecf.2	+	5	714	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	232	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGGTGGACTTCTTCCTGTTAT	0.393000														54			6		0	0	0.001984	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470507	19470507	+	Silent	SNP	C	T	T	rs34576017	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:19470507C>T	uc002gvx.3	+	13	1361	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	SLC47A1_uc002gvy.1_Silent_p.I425I|SLC47A1_uc010vyz.1_Silent_p.I402I|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.I230I|SLC47A1_uc010vza.1_Silent_p.I137I|SLC47A1_uc010vzb.1_Silent_p.I159I|SLC47A1_uc010vzc.1_Silent_p.I97I	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	425						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCATCGGGATCGCGCTGATGT	0.552000														85			11		0	0	0.008291	0	0
CD93	22918	broad.mit.edu	37	20	23065369	23065369	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:23065369T>C	uc002wsv.3	-	0	1609	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	487					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTCTTTCTCTCCTTTGTCCT	0.652000														38			6		0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126411537	126411537	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126411537C>T	uc003ifj.4	+	16	13560	c.13560C>T	c.(13558-13560)gtC>gtT	p.V4520V	FAT4_uc011cgp.2_Silent_p.V2761V|FAT4_uc003ifi.1_Silent_p.V1997V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4520					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCTCCTGGTCCTTAGCCTGA	0.542000														30			8		0	0	0.006214	0	0
IYD	389434	broad.mit.edu	37	6	150690282	150690282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:150690282G>A	uc003qnx.2	+	0	255	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	IYD_uc003qnv.2_Missense_Mutation_p.E39K|IYD_uc003qnu.2_Missense_Mutation_p.E39K|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	39					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.E39K(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AACCAGGGCCGAAGCTCGCCC	0.502000														81			12		0	0	0.013537	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51957508C>T	uc002pwt.3	-	5	1277	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	SIGLEC8_uc010yda.2_Missense_Mutation_p.E295K|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.E311K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	404					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.E404Q(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597000														70			11		0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179640842	179640842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179640842G>A	uc021vsy.1	-	27	5974	c.5749C>T	c.(5749-5751)Cct>Tct	p.P1917S	TTN_uc021vsz.1_Missense_Mutation_p.P1871S|TTN_uc021vta.1_Missense_Mutation_p.P1871S|TTN_uc021vtb.1_Missense_Mutation_p.P1871S|TTN_uc002unb.2_Missense_Mutation_p.P1917S|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1917	Ig-like 9.						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)			ACACCTTCAGGATTTTCCGCG	0.453000														136			25		0	0	0.003954	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050174	42050174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:42050174G>A	uc001cgz.4	-	3	1508	c.295C>T	c.(295-297)Cct>Tct	p.P99S	HIVEP3_uc001cha.4_Missense_Mutation_p.P99S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	99					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGTCAGAGGGTGCTGCGGA	0.597000														151			28		0	0	0.003271	0	0
DNPEP	23549	broad.mit.edu	37	2	220250763	220250763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220250763G>A	uc002vle.2	-	5	663	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	DNPEP_uc002vli.2_Missense_Mutation_p.R120C|DNPEP_uc010zlg.2_Missense_Mutation_p.R181C|DNPEP_uc002vlj.2_Missense_Mutation_p.R163C	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	163					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGTGGGATGCGAAGAATGGGC	0.632000														58			12		0	0	0.003163	0	0
GRM7	2917	broad.mit.edu	37	3	7620850	7620850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:7620850G>A	uc003bqm.2	+	7	2531	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N	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_Missense_Mutation_p.D753N|GRM7_uc003bql.2_Missense_Mutation_p.D753N|GRM7_uc003bqn.1_Missense_Mutation_p.D336N|GRM7_uc010hch.1_Missense_Mutation_p.D264N	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	753					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)	TGACATTACAGATCTCCAAAT	0.438000														67			5		0	0	0.000602	0	0
KIF13B	23303	broad.mit.edu	37	8	28967446	28967446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:28967446G>A	uc003xhh.4	-	32	4131	c.4072C>T	c.(4072-4074)Cgt>Tgt	p.R1358C	AF086219_uc003xhi.1_5'Flank	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1358					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			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)		TGGCGCAGACGATCTAAAGTC	0.522000														11			4		0	0	0.009096	0	0
LIFR	3977	broad.mit.edu	37	5	38496631	38496631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38496631C>T	uc010ive.1	-	12	2070	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	LIFR_uc003jli.2_Missense_Mutation_p.E580K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	580	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GACTGTGTTTCCTCATCTGAT	0.373000			T	PLAG1	salivary adenoma									38			10		0	0	0.010729	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802823	96802823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96802823C>T	uc001kkb.3	-	6	1068	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP2C8_uc010qoa.2_Missense_Mutation_p.E255K|CYP2C8_uc010qoc.2_Missense_Mutation_p.E223K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.E239K|CYP2C8_uc021pwl.1_Missense_Mutation_p.E255K|CYP2C8_uc010qod.1_Missense_Mutation_p.E239K	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	325					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCAATCTCTTCCTGGACTTTA	0.423000														44			5		0	0	0.000602	0	0
COL5A3	50509	broad.mit.edu	37	19	10112453	10112453	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10112453C>T	uc002mmq.1	-	6	1040	c.954G>A	c.(952-954)acG>acA	p.T318T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	318	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCTAGGATCGTGGCATTGA	0.552000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			10		0	0	0.010729	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014581	53014581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:53014581G>A	uc002iud.2	+	9	1202	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	TOM1L1_uc002iuc.3_Missense_Mutation_p.G343S|TOM1L1_uc010dca.1_Missense_Mutation_p.G343S|TOM1L1_uc010wnb.1_Missense_Mutation_p.G336S|TOM1L1_uc010wnc.1_Missense_Mutation_p.G266S|TOM1L1_uc010dbz.2_Missense_Mutation_p.G266S|TOM1L1_uc010wnd.1_Missense_Mutation_p.G231S|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	343					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCAACTTTCAGGCTTAAGTAA	0.453000														70			6		0	0	0.001984	0	0
SERPING1	710	broad.mit.edu	37	11	57369590	57369590	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57369590G>A	uc001nkp.1	+	3	824	c.633G>A	c.(631-633)aaG>aaA	p.K211K	SERPING1_uc010rju.1_Silent_p.K159K|SERPING1_uc010rjv.1_Silent_p.K216K|SERPING1_uc001nkr.1_Silent_p.K211K|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	211					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGCCCTGAAGGGCTTCACGA	0.577000														35			10		0	0	0.008291	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:81192458G>A	uc001kak.3	-	1	490	c.303C>T	c.(301-303)atC>atT	p.I101I	ZCCHC24_uc010qlr.2_Missense_Mutation_p.R42C|ZCCHC24_uc009xrw.3_Non-coding_Transcript	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	Homo sapiens zinc finger, CCHC domain containing 24 (ZCCHC24), mRNA.	101							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617000														23			4		0	0	0.009096	0	0
DNAH7	56171	broad.mit.edu	37	2	196753607	196753607	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196753607C>T	uc002utj.4	-	31	5246	c.5145G>A	c.(5143-5145)ctG>ctA	p.L1715L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1715	AAA 2 (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						CCCCACTCATCAGACATAGCT	0.403000														59			12		0	0	0.010729	0	0
ATP5G3	518	broad.mit.edu	37	2	176043862	176043862	+	Silent	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:176043862A>C	uc002ujz.4	-	2	507	c.237T>G	c.(235-237)ggT>ggG	p.G79G	ATP5G3_uc002uka.4_Silent_p.G79G|ATP5G3_uc002ukb.2_Silent_p.G79G	NM_001002258	NP_001680	P48201	AT5G3_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) (ATP5G3), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	79					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTGTTGCAGCACCTGCACCAA	0.463000														43			5		0	0	0.000602	0	0
ZNF418	147686	broad.mit.edu	37	19	58441905	58441905	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58441905T>A	uc002qqs.1	-	2	316	c.24A>T	c.(22-24)gaA>gaT	p.E8D	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CAGCCACATCTTCAAATGCCA	0.507000														60			7		0	0	0.004482	0	0
DCHS2	54798	broad.mit.edu	37	4	155157247	155157247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:155157247G>A	uc003inw.2	-	24	7192	c.7192C>T	c.(7192-7194)Caa>Taa	p.Q2398*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2398	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTTGGCTTGGACTGTGAGG	0.408000														67			8		0	0	0.004482	0	0
ILDR1	286676	broad.mit.edu	37	3	121712387	121712387	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121712387G>A	uc003ees.3	-	6	1412	c.1209C>T	c.(1207-1209)caC>caT	p.H403H	ILDR1_uc003eeq.3_Silent_p.H371H|ILDR1_uc003eer.3_Silent_p.H359H|ILDR1_uc010hrg.3_Silent_p.H314H	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	403						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)		TAGAGCTACGGTGCCTTCCAC	0.597000														28			5		0	0	0.000602	0	0
TEX14	56155	broad.mit.edu	37	17	56693624	56693624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56693624G>A	uc010dcz.2	-	6	815	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	TEX14_uc002iwr.2_Missense_Mutation_p.L227F|TEX14_uc002iws.2_Missense_Mutation_p.L227F|TEX14_uc010dda.2_Missense_Mutation_p.L7F	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	233	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGACCGGAAGAGATCCTAGA	0.488000														50			17		0	0	0.007413	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874269	31874269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:31874269C>T	uc011ada.2	-	0	140	c.140G>A	c.(139-141)gGc>gAc	p.G47D		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	47						intermediate filament	protein binding	p.G47S(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GAAGCCAGAGCCGTATCCGTA	0.552000														70			7		0	0	0.003080	0	0
LIMK1	3984	broad.mit.edu	37	7	73526306	73526306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73526306C>T	uc003uaa.2	+	11	1602	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.S429F	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	463	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GACCTCAACTCCCACAACTGC	0.652000														52			5		0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158637748	158637748	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158637748C>T	uc001fst.1	-	14	2137	c.1938G>A	c.(1936-1938)gaG>gaA	p.E646E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	646					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)					CCTCAATCATCTCTTGGCCAG	0.468000														100			12		0	0	0.013537	0	0
CHODL	140578	broad.mit.edu	37	21	19629030	19629030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:19629030C>T	uc002ykv.3	+	1	675	c.284C>T	c.(283-285)tCt>tTt	p.S95F	CHODL_uc002ykr.3_Missense_Mutation_p.S54F|CHODL_uc002yks.3_Missense_Mutation_p.S54F|CHODL_uc021whr.1_Missense_Mutation_p.S54F|CHODL_uc002ykt.3_Missense_Mutation_p.S54F|CHODL_uc002yku.3_Missense_Mutation_p.S54F|CHODL_uc021whs.1_Missense_Mutation_p.S76F	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	95	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACAGGGATTTCTGATGGTGAT	0.498000														81			13		0	0	0.002450	0	0
PYGL	5836	broad.mit.edu	37	14	51378726	51378726	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:51378726G>A	uc001wyu.3	-	14	1924	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	PYGL_uc010tqq.2_Silent_p.F565F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	599					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCCTTGGCACGAATAACTTCT	0.433000														51			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9066477	9066477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9066477G>A	uc002mkp.3	-	2	21173	c.20969C>T	c.(20968-20970)tCc>tTc	p.S6990F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6992	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						TCTACCAGAGGAGGTGACTTC	0.488000														142			12		0	0	0.010729	0	0
ALOX15B	247	broad.mit.edu	37	17	7948190	7948190	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7948190C>T	uc002gju.3	+	5	836	c.720C>T	c.(718-720)tcC>tcT	p.S240S	ALOX15B_uc002gjv.3_Silent_p.S240S|ALOX15B_uc002gjw.3_Silent_p.S240S|ALOX15B_uc010vun.2_Silent_p.S240S|ALOX15B_uc010cnp.3_Silent_p.S46S	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	240	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			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						TCTTCGCCTCCCAGTTCCTGA	0.607000														30			4		0	0	0.009096	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213058	35213058	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35213058A>T	uc003okf.1	+	18	2461	c.2455A>T	c.(2455-2457)Aac>Tac	p.N819Y	SCUBE3_uc003okg.1_Missense_Mutation_p.N818Y|SCUBE3_uc003okh.1_Missense_Mutation_p.N706Y	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	819	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGAGTCCCCCAACTACCCGGG	0.547000														82			10		0	0	0.008291	0	0
GPR133	283383	broad.mit.edu	37	12	131451070	131451070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:131451070G>A	uc010tbm.2	+	2	725	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	GPR133_uc001uit.4_Missense_Mutation_p.E56K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	56					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGATCCATGAACTTCAGGA	0.517000														46			14		0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	2830730	2830730	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:2830730G>A	uc022aqr.1	-	56	9222	c.8832C>T	c.(8830-8832)ttC>ttT	p.F2944F	CSMD1_uc011kwj.2_Silent_p.F2274F|CSMD1_uc010lrg.3_Silent_p.F955F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2945	Sushi 22.					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)		TTTCACAGGAGAAGCGGAGAA	0.542000														71			14		0	0	0.002450	0	0
GPR112	139378	broad.mit.edu	37	X	135455070	135455070	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135455070G>A	uc004ezu.1	+	14	7914	c.7623G>A	c.(7621-7623)agG>agA	p.R2541R	GPR112_uc010nsb.1_Silent_p.R2336R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2541					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)					GAATTCTGAGGATAATTGAGC	0.478000														96			19		0	0	0.006122	0	0
TCRVA15	0	broad.mit.edu	37	14	22205105	22205105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22205105C>T	uc001wbp.2	+	1	218	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CCAACAGTTTCCCAGCCAAGG	0.438000														28			4		0	0	0.009096	0	0
EGF	1950	broad.mit.edu	37	4	110909851	110909851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:110909851G>A	uc003hzy.4	+	17	3172	c.2720G>A	c.(2719-2721)gGg>gAg	p.G907E	EGF_uc011cfu.2_Missense_Mutation_p.G865E|EGF_uc011cfv.2_Missense_Mutation_p.G907E|EGF_uc010imk.3_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	907	EGF-like 7; calcium-binding (Potential).				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)	CAAGGAGATGGGATTCACTGT	0.567000														73			8		0	0	0.006214	0	0
RBM18	92400	broad.mit.edu	37	9	125014198	125014198	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125014198G>A	uc004bma.2	-	2	334	c.168C>T	c.(166-168)ttC>ttT	p.F56F	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Intron	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	56	RRM.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGTGGAAGAGGAAGTCAAACT	0.443000														58			8		0	0	0.003080	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:26147239C>T	uc002dof.3	+	1	1433	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	347					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000														92			11		0	0	0.008291	0	0
LRFN3	79414	broad.mit.edu	37	19	36430513	36430513	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:36430513C>T	uc002oco.3	+	1	638	c.186C>T	c.(184-186)gcC>gcT	p.A62A		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	62					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCGGGCAGCCGAGCTGCGGC	0.701000														13			3		0	0	0.004672	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		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						GGGGTGATTTCGAGGATTCCA	0.453000														45			5		0	0	0.003080	0	0
MLIP	90523	broad.mit.edu	37	6	53989457	53989457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:53989457G>A	uc011dxa.2	+	2	472	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	MLIP_uc003pcf.2_Missense_Mutation_p.E136K|MLIP_uc003pcg.4_Missense_Mutation_p.E136K|MLIP_uc003pch.4_Missense_Mutation_p.E74K|MLIP_uc011dwz.1_Missense_Mutation_p.E95K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	136						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGTGGACTCCGAAGGGGAAGA	0.502000														74			10		0	0	0.008291	0	0
EHD3	30845	broad.mit.edu	37	2	31467274	31467274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:31467274C>T	uc002rnu.3	+	1	970	c.362C>T	c.(361-363)cCc>cTc	p.P121L	EHD3_uc010ymt.2_Missense_Mutation_p.P121L	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	121					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCAAGAAACCCTTCAGGAAA	0.547000														32			6		0	0	0.001984	0	0
MAP1A	4130	broad.mit.edu	37	15	43820735	43820735	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43820735A>C	uc001zrt.3	+	3	7531	c.7064A>C	c.(7063-7065)gAg>gCg	p.E2355A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2355						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTCCCTCTGAGGATTGTGCA	0.632000														32			5		0	0	0.001168	0	0
GALT	2592	broad.mit.edu	37	9	34647828	34647828	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:34647828G>C	uc003zve.3	+	5	445	c.378_splice	c.e5-1	p.C126_splice	GALT_uc003zvf.3_Splice_Site_p.S17_splice|GALT_uc011lop.1_Splice_Site_p.C78_splice|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	126					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCACCACCCAGTAAGGTCATG	0.567000									Galactosemia					58			4		0	0	0.001168	0	0
GLP1R	2740	broad.mit.edu	37	6	39046896	39046896	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39046896C>T	uc003ooj.4	+	9	1023	c.963C>T	c.(961-963)ttC>ttT	p.F321F	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	321					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AGGTGAACTTCCTCATCTTTG	0.557000														116			15		0	0	0.004007	0	0
CARD6	84674	broad.mit.edu	37	5	40841643	40841643	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:40841643C>T	uc003jmg.3	+	0	234	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	53	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTACAGATCTCCTGAAGAAAA	0.403000														27			4		0	0	0.009096	0	0
ZNF77	58492	broad.mit.edu	37	19	2934073	2934073	+	Missense_Mutation	SNP	G	A	A	rs142377561		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2934073G>A	uc002lws.4	-	3	1183	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATTCATAGGGTTTCTCTCC	0.507000														45			5		0	0	0.001168	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218774	154218775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154218774_154218775CC>TT	uc001fep.4	+	10	1104_1105	c.937_938CC>TT	c.(937-939)cct>TTt	p.P313F	UBAP2L_uc009wot.3_Missense_Mutation_p.P313F|UBAP2L_uc010pek.2_Missense_Mutation_p.P305F|UBAP2L_uc010pel.2_Missense_Mutation_p.P323F|UBAP2L_uc010pen.2_Missense_Mutation_p.P227F	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	313					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGGCCCAGCCTCTGGTGTTC	0.470000														107			10		0	0	0.004672	0	0
NUF2	83540	broad.mit.edu	37	1	163306561	163306561	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:163306561T>G	uc001gcq.1	+	5	658	c.358T>G	c.(358-360)Ttt>Gtt	p.F120V	NUF2_uc001gcr.1_Missense_Mutation_p.F120V	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	120	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GACAAGTCGGTTTTTAAGTGG	0.313000														37			8		0	0	0.010729	0	0
DDX60L	91351	broad.mit.edu	37	4	169300899	169300899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:169300899G>A	uc021xuh.1	-	29	4309	c.4199C>T	c.(4198-4200)tCc>tTc	p.S1400F	DDX60L_uc003irq.4_Missense_Mutation_p.S1400F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1400							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGCTGCAAGGAAAACAAAAA	0.368000														23			11		0	0	0.008291	0	0
PYGB	5834	broad.mit.edu	37	20	25257899	25257899	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:25257899C>T	uc002wup.3	+	6	901	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	264					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GAGACTACATCGAGGCGGTCC	0.562000														48			8		0	0	0.006214	0	0
FNDC9	408263	broad.mit.edu	37	5	156770011	156770011	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:156770011G>A	uc003lwu.2	-	1	722	c.534C>T	c.(532-534)ctC>ctT	p.L178L	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.L178L	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	178						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCACCAGGGGGAGCCCCTGCA	0.622000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			9		0	0	0.006214	0	0
C15orf55	256646	broad.mit.edu	37	15	34647863	34647863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:34647863G>A	uc010ucc.2	+	7	2036	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	C15orf55_uc010ucd.2_Missense_Mutation_p.G542R|C15orf55_uc001zif.3_Missense_Mutation_p.G524R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	524						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)		CGCTTGCCTTGGAAAGGTTTC	0.587000			T	"""BRD3, BRD4"""	lethal midline carcinoma									81			8		0	0	0.003080	0	0
PEG3	5178	broad.mit.edu	37	19	57326320	57326320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57326320C>T	uc002qnu.2	-	6	3841	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1135K|PEG3_uc002qnv.2_Missense_Mutation_p.E1164K|PEG3_uc002qnw.2_Missense_Mutation_p.E1040K|PEG3_uc002qnx.2_Missense_Mutation_p.E1038K|PEG3_uc010etr.2_Missense_Mutation_p.E1164K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1164					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTGGACATTCATACAGCTGC	0.448000														82			17		0	0	0.004990	0	0
CNGA2	1260	broad.mit.edu	37	X	150912516	150912516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:150912516C>T	uc004fey.1	+	6	1765	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	514					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGCTGTCGGCTGGAAGC	0.507000														40			10		0	0	0.010729	0	0
TACC2	10579	broad.mit.edu	37	10	123970533	123970533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:123970533G>A	uc001lfv.3	+	8	6953	c.6593G>A	c.(6592-6594)gGg>gAg	p.G2198E	TACC2_uc001lfw.3_Missense_Mutation_p.G344E|TACC2_uc009xzx.3_Missense_Mutation_p.G2153E|TACC2_uc010qtv.2_Missense_Mutation_p.G2202E|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.G276E|TACC2_uc001lga.3_Missense_Mutation_p.G276E|TACC2_uc009xzy.3_Missense_Mutation_p.G276E|TACC2_uc001lgb.3_Missense_Mutation_p.G233E|TACC2_uc010qtw.1_Missense_Mutation_p.G293E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2198						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)				CCCGCTGTGGGGCCCAAAGCT	0.612000														39			7		0	0	0.003080	0	0
CD1E	913	broad.mit.edu	37	1	158325230	158325230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158325230C>T	uc001fse.3	+	2	789	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	CD1E_uc010pid.2_Nonsense_Mutation_p.Q164*|CD1E_uc010pie.2_Nonsense_Mutation_p.Q67*|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Nonsense_Mutation_p.Q166*|CD1E_uc001fsf.3_Nonsense_Mutation_p.Q166*|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Nonsense_Mutation_p.Q67*|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Nonsense_Mutation_p.Q166*|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	166					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATCCGGGCCCAGAACATCTG	0.483000														59			6		0	0	0.001168	0	0
DNAH2	146754	broad.mit.edu	37	17	7662354	7662354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7662354C>T	uc002giu.1	+	13	2374	c.2360C>T	c.(2359-2361)gCt>gTt	p.A787V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	787	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATCGGGCAGCTGTACAGCAG	0.507000														21			4		0	0	0.009096	0	0
MYCT1	80177	broad.mit.edu	37	6	153043307	153043307	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:153043307C>T	uc003qpc.4	+	1	635	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	209						nucleus		p.W208L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACTACTGGTCCAGTAACAGTC	0.527000														71			7		0	0	0.003080	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503681	140503681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140503681C>T	uc003lip.1	+	0	2101	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGCTCTTCCTCTTCTCGGT	0.711000														125			14		0	0	0.003163	0	0
AASDH	132949	broad.mit.edu	37	4	57216119	57216119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57216119C>T	uc003hbn.3	-	10	1951	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	AASDH_uc010ihb.3_Missense_Mutation_p.E115K|AASDH_uc003hbo.3_Missense_Mutation_p.E500K|AASDH_uc011caa.2_Missense_Mutation_p.E447K|AASDH_uc011cab.2_Missense_Mutation_p.E115K|AASDH_uc010ihc.3_Missense_Mutation_p.E600K|AASDH_uc003hbp.3_Missense_Mutation_p.E600K	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	600	Acyl carrier.				fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACAAGTTTTTCAATCTCACTG	0.408000														28			4		0	0	0.000602	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375969	42375969	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42375969C>T	uc001zox.3	-	6	575	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	160					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGCATGACAGCTCTCGGGCCT	0.602000														54			11		0	0	0.013537	0	0
ARID4A	5926	broad.mit.edu	37	14	58825899	58825899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:58825899G>A	uc001xdp.3	+	17	2157	c.1903G>A	c.(1903-1905)Ggt>Agt	p.G635S	ARID4A_uc001xdo.3_Missense_Mutation_p.G635S|ARID4A_uc001xdq.3_Missense_Mutation_p.G635S|ARID4A_uc010apg.1_Missense_Mutation_p.G313S	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	635					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGGACAAAGGTGGACCAAA	0.289000														41			12		0	0	0.004007	0	0
INO80	54617	broad.mit.edu	37	15	41275114	41275114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:41275114C>T	uc001zni.3	-	34	4612	c.4399G>A	c.(4399-4401)Gct>Act	p.A1467T	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1467	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCCGCTGCAGCCCCGGCTTTG	0.607000														86			5		0	0	0.000602	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403794	47403794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47403794C>T	uc001cqp.4	-	1	262	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CYP4A11_uc001cqq.2_Missense_Mutation_p.E71K|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	71					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CGTTGTAGCTCCTGGTCCTGT	0.502000														77			6		0	0	0.001984	0	0
SLFN12	55106	broad.mit.edu	37	17	33749180	33749180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:33749180G>A	uc002hji.4	-	1	1245	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	SLFN12_uc002hjj.4_Missense_Mutation_p.L290F|SLFN12_uc010cts.3_Missense_Mutation_p.L290F	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	290							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATACTCCAAGGAATTTGCAT	0.418000														36			4		0	0	0.000602	0	0
DPYD	1806	broad.mit.edu	37	1	97544576	97544576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:97544576C>T	uc001drv.3	-	22	3171	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	1012					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTCTTTGGTTCATAAGGTGTT	0.453000														94			18		0	0	0.010504	0	0
NEK4	6787	broad.mit.edu	37	3	52794827	52794827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52794827G>A	uc003dfq.4	-	5	1150	c.947C>T	c.(946-948)tCc>tTc	p.S316F	NEK4_uc011bej.2_Missense_Mutation_p.S227F|NEK4_uc003dfr.3_Missense_Mutation_p.S316F	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	316					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ATATGTCTGGGAGCCCTCAGA	0.398000														57			5		0	0	0.001984	0	0
ABHD8	79575	broad.mit.edu	37	19	17412092	17412093	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17412092_17412093CC>TT	uc002ngb.4	-	1	573_574	c.333_334GG>AA	c.(331-336)ggggag>ggAAag	p.E112K		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	112							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCGGCGGCTCCCCAGAGCCAT	0.723000														25			8		0	0	0.004672	0	0
BMS1	9790	broad.mit.edu	37	10	43287155	43287155	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:43287155T>C	uc001jaj.3	+	5	1075	c.717T>C	c.(715-717)atT>atC	p.I239I		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	239					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCCGTTTTATTACAGTTATGA	0.398000														117			12		0	0	0.003163	0	0
ILDR2	387597	broad.mit.edu	37	1	166927185	166927185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:166927185C>T	uc001gdx.2	-	1	256	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	67	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CAAGGATTCTCCCATGCGATC	0.547000														105			13		0	0	0.003163	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323128	79323128	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:79323128C>T	uc010mpk.3	-	7	4186	c.4062G>A	c.(4060-4062)ggG>ggA	p.G1354G	PRUNE2_uc022bih.1_Silent_p.G1176G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1354					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.G1354G(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCAGAAATCCCTGAGGCAT	0.498000														43			4		0	0	0.009096	0	0
KRT71	112802	broad.mit.edu	37	12	52940248	52940248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52940248C>T	uc001sao.3	-	6	1217	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	383	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCGTTGTCTCCCCGCTGCTCA	0.607000														15			9		0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457235	110457235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110457235G>A	uc003yne.3	+	37	5241	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1713	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTGAATGTGAAACATCCCC	0.443000										HNSCC(38;0.096)				194			20		0	0	0.003330	0	0
CDON	50937	broad.mit.edu	37	11	125888225	125888225	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:125888225G>A	uc009zbw.3	-	5	768	c.640_splice	c.e5+1	p.R214_splice	CDON_uc001qdc.4_Splice_Site_p.R214_splice|CDON_uc001qdd.4_Splice_Site|CDON_uc009zbx.3_Splice_Site_p.R214_splice	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	214					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.R214C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAATACTTACGACTCACAAGG	0.368000														34			12		0	0	0.013537	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553489	27553489	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:27553489C>T	uc001rht.2	+	9	1161	c.942C>T	c.(940-942)atC>atT	p.I314I	ARNTL2_uc001rhu.2_Silent_p.I300I|ARNTL2_uc001rhv.2_Silent_p.I266I|ARNTL2_uc001rhw.3_Silent_p.I277I|ARNTL2_uc010sjp.2_Silent_p.I277I|ARNTL2_uc009zji.2_Silent_p.I280I|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	314					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TCTATACTATCCATTGCACTG	0.313000														38			4		0	0	0.000602	0	0
PSKH2	85481	broad.mit.edu	37	8	87076634	87076634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87076634C>T	uc011lfy.2	-	1	412	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	138	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTAGCCAGCTCCATTACCATG	0.537000														47			6		0	0	0.001168	0	0
PTPRD	5789	broad.mit.edu	37	9	8389358	8389358	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:8389358C>T	uc003zkk.3	-	36	5003	c.4260G>A	c.(4258-4260)agG>agA	p.R1420R	PTPRD_uc003zkp.3_Silent_p.R1014R|PTPRD_uc003zkq.3_Silent_p.R1013R|PTPRD_uc003zkr.3_Silent_p.R1004R|PTPRD_uc003zks.3_Silent_p.R1013R|PTPRD_uc022bdj.1_Silent_p.R1010R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1420	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATTTTGCTTCCTATACCCAT	0.448000										TSP Lung(15;0.13)				77			10		0	0	0.008291	0	0
TLR3	7098	broad.mit.edu	37	4	187004511	187004511	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:187004511C>T	uc003iyq.3	+	3	1772	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	TLR3_uc011ckz.2_Silent_p.F280F|TLR3_uc003iyr.3_Silent_p.F280F	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	557					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCATTTATTTCCTAAAGGGTC	0.443000														41			16		0	0	0.004007	0	0
RNF213	57674	broad.mit.edu	37	17	78268715	78268715	+	Silent	SNP	C	T	T	rs146798784	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:78268715C>T	uc002jyh.2	+	9	1958	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	RNF213_uc002jyf.3_Silent_p.F556F|RNF213_uc021uen.1_Silent_p.F556F|RNF213_uc002jyg.1_Silent_p.F287F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	556										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)			TCACCCAGTTCGAGCAGTTTT	0.527000														43			10		0	0	0.010729	0	0
ZFP14	57677	broad.mit.edu	37	19	36831496	36831496	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:36831496A>G	uc010xtd.2	-	3	1314	c.1235T>C	c.(1234-1236)cTt>cCt	p.L412P	ZFP14_uc010eex.2_Missense_Mutation_p.L411P	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GTGTGAAATAAGCTGTGAGTA	0.403000														49			8		0	0	0.003080	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547860	35547860	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:35547860G>A	uc002xgh.2	-	6	959	c.759C>T	c.(757-759)gtC>gtT	p.V253V		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	253	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATTGTTCCATGACAGGCTTAA	0.353000														37			6		0	0	0.001168	0	0
PROL1	58503	broad.mit.edu	37	4	71275270	71275270	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:71275270C>T	uc003hfi.3	+	2	399	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	75	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATCTTCTTTCTCTCGATTTA	0.463000														132			21		0	0	0.002780	0	0
OR4C6	219432	broad.mit.edu	37	11	55432969	55432969	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55432969G>A	uc010rik.2	+	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGGTGTGGGGATCATCCTCC	0.547000														32			16		0	0	0.004007	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208571	65208571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:65208571C>T	uc001xhp.2	+	15	2738	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S723F|PLEKHG3_uc001xho.1_Missense_Mutation_p.S779F|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S321F|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S284F	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	779					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGTGGGCTCCCGGCCGACT	0.607000														63			6		0	0	0.001984	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927739	43927739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:43927739C>T	uc010yny.2	+	7	1725	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	PLEKHH2_uc002rte.3_Missense_Mutation_p.P548S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P547S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	548						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCACCGTTTTCCTTCTTGGGT	0.468000														224			24		0	0	0.003954	0	0
FAM184A	79632	broad.mit.edu	37	6	119301410	119301410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:119301410C>T	uc003pyj.3	-	9	2542	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	FAM184A_uc003pyk.4_Missense_Mutation_p.E612K|FAM184A_uc003pyl.4_Missense_Mutation_p.E612K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	732								p.E732K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTCAAGCTCTTGCGTAAGC	0.428000														49			12		0	0	0.010729	0	0
USP26	83844	broad.mit.edu	37	X	132162210	132162210	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:132162210C>T	uc011mvf.2	-	0	91	c.39G>A	c.(37-39)ggG>ggA	p.G13G	USP26_uc010nrm.1_Silent_p.G13G	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	13					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTGCAGTTCCCTATTTGGA	0.358000														36			4		0	0	0.001168	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178162	39178162	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39178162A>T	uc004abi.3	-	4	973	c.734T>A	c.(733-735)cTt>cAt	p.L245H	CNTNAP3_uc004abj.3_Missense_Mutation_p.L245H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.L245H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.L245H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	245	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCTGAATTAAGAAAAAAGAC	0.303000														70			5		0	0	0.000602	0	0
CD163L1	283316	broad.mit.edu	37	12	7527908	7527908	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7527908G>A	uc010sge.2	-	10	3026	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	CD163L1_uc001qsy.3_Silent_p.I990I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	990	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TATTTCCATGGATACAGGGAG	0.438000														28			7		0	0	0.004482	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44069127C>T	uc001cjr.3	+	14	2721	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PTPRF_uc001cjs.3_Missense_Mutation_p.S785F|PTPRF_uc001cju.3_Missense_Mutation_p.S365F|PTPRF_uc009vwt.3_Missense_Mutation_p.S356F|PTPRF_uc001cjv.3_Missense_Mutation_p.S254F|PTPRF_uc001cjw.3_Missense_Mutation_p.S20F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	794	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACCTACTCCGTTACTGTT	0.582000														50			10		0	0	0.008291	0	0
TPTE	7179	broad.mit.edu	37	21	10970043	10970043	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10970043T>A	uc002yip.1	-	5	453	c.85A>T	c.(85-87)Aaa>Taa	p.K29*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.K29*|TPTE_uc002yir.1_Nonsense_Mutation_p.K29*|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	29					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTGCTCCTTTAAATTCACTT	0.388000														157			12		0	0	0.002450	0	0
X97876	0	broad.mit.edu	37	9	66499792	66499792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:66499792C>T	uc004aee.1	+	0	602	c.602C>T	c.(601-603)tCg>tTg	p.S201L	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CTGTGCAAGTCGCGCAAGGAG	0.592000														61			5		0	0	0.000602	0	0
CHD9	80205	broad.mit.edu	37	16	53191228	53191228	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:53191228C>T	uc002ehb.3	+	0	1391	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	CHD9_uc002egy.3_Silent_p.L409L|CHD9_uc002egz.1_Silent_p.L409L|CHD9_uc002ehc.3_Silent_p.L409L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	409					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCGAGGACCTCCTTCAGGAGG	0.413000														13			4		0	0	0.009096	0	0
COL5A3	50509	broad.mit.edu	37	19	10114307	10114307	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10114307C>T	uc002mmq.1	-	5	869	c.783G>A	c.(781-783)ggG>ggA	p.G261G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	261	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTGCCCTTCCCCTTGCGAC	0.577000														40			5		0	0	0.001168	0	0
MMP9	4318	broad.mit.edu	37	20	44637642	44637642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:44637642C>T	uc002xqz.3	+	0	96	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	26					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CAGCGCCAGTCCACCCTTGTG	0.627000														17			4		0	0	0.000602	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414600	37414600	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37414600C>T	uc002rpu.3	-	1	117	c.96G>A	c.(94-96)tgG>tgA	p.W32*	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	70						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGTGGAGAATCCAGTTTGAAC	0.294000														17			4		0	0	0.009096	0	0
USP53	54532	broad.mit.edu	37	4	120192649	120192649	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:120192649A>T	uc003ics.4	+	14	2700	c.1634A>T	c.(1633-1635)aAa>aTa	p.K545I	USP53_uc003icr.4_Missense_Mutation_p.K545I|USP53_uc003icu.4_Missense_Mutation_p.K168I|USP53_uc003ict.3_Missense_Mutation_p.K168I	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	545					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K544T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCAGGAGAGAAAATAACTGGC	0.418000														56			6		0	0	0.001984	0	0
EYA4	2070	broad.mit.edu	37	6	133789852	133789852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:133789852G>A	uc011ecs.2	+	10	1269	c.953G>A	c.(952-954)gGa>gAa	p.G318E	EYA4_uc011ecq.2_Missense_Mutation_p.G264E|EYA4_uc011ecr.2_Missense_Mutation_p.G264E|EYA4_uc003qec.4_Missense_Mutation_p.G318E|EYA4_uc003qed.4_Missense_Mutation_p.G318E|EYA4_uc003qee.4_Missense_Mutation_p.G295E|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	318					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTCTCCCAGGACTGACTAAC	0.408000														61			16		0	0	0.007413	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984617	104984617	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:104984617G>A	uc004elz.1	+	7	1737	c.981G>A	c.(979-981)gcG>gcA	p.A327A		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	327	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.A327V(1)|p.A327E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGACCTGGCGAATTATACCT	0.388000														25			13		0	0	0.003163	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307109	120307109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:120307109C>T	uc001eid.3	-	1	333	c.245G>A	c.(244-246)gGa>gAa	p.G82E	HMGCS2_uc010oxj.2_Missense_Mutation_p.G82E|HMGCS2_uc021osx.1_5'UTR	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGTATACTTTCCTGCTTCCAC	0.552000														406			43		0	0	0.010771	0	0
ENKUR	219670	broad.mit.edu	37	10	25288372	25288372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:25288372C>T	uc001isg.1	-	1	346	c.181G>A	c.(181-183)Gat>Aat	p.D61N	ENKUR_uc001ish.1_Intron	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	61						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTAGGAAATCCTTTGGAGAA	0.323000														19			4		0	0	0.009096	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306418	133306418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133306418G>A	uc001ukx.2	-	10	2397	c.2330C>T	c.(2329-2331)cCt>cTt	p.P777L	ANKLE2_uc009zyw.1_Missense_Mutation_p.P132L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	777						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGCGGGAGAAGGCTCTAACAA	0.478000														52			5		0	0	0.000602	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698474	96698474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96698474C>T	uc001kka.4	+	0	60	c.35C>T	c.(34-36)tCa>tTa	p.S12L	CYP2C9_uc009xut.3_Missense_Mutation_p.S12L|CYP2C9_uc001kjz.3_Missense_Mutation_p.S12L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	12					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTCTGTCTCTCATGTTTGCTT	0.473000														142			29		0	0	0.008361	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367481	234367481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234367481G>A	uc001hvy.1	+	2	747	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SLC35F3_uc001hwa.1_Missense_Mutation_p.R132Q	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	132					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597000														68			6		0	0	0.001168	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611564	19611564	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19611564G>A	uc001bbv.1	-	3	629	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	184					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGCAGGGGAAGAGCTCCG	0.582000														61			7		0	0	0.004482	0	0
PHF8	23133	broad.mit.edu	37	X	54048696	54048696	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:54048696C>A	uc004dsu.3	-	3	643	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	PHF8_uc004dst.3_Missense_Mutation_p.D97Y|PHF8_uc004dsw.3_Missense_Mutation_p.D97Y|PHF8_uc004dsy.3_Missense_Mutation_p.D97Y	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	133					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCTCACCTGTCAAAAGTCCTA	0.562000														28			12		3.07112e-06	3.18752e-06	0.010729	1	0
ZFPL1	7542	broad.mit.edu	37	11	64853986	64853986	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64853986T>C	uc001ocq.1	+	3	479	c.314T>C	c.(313-315)tTc>tCc	p.F105S	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	105					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GGCCCCATCTTCCCCCCAACC	0.647000														66			20		0	0	0.007413	0	0
CHST12	55501	broad.mit.edu	37	7	2472340	2472340	+	Silent	SNP	C	T	T	rs150285273		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2472340C>T	uc003smc.3	+	1	229	c.66C>T	c.(64-66)atC>atT	p.I22I	CHST12_uc003smd.3_Silent_p.I22I|CHST12_uc021zyu.1_Silent_p.I22I|CHST12_uc021zyv.1_Silent_p.I22I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	22					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TCCTGCTGATCATCGTGTACT	0.701000														55			13		0	0	0.001855	0	0
INPP5B	3633	broad.mit.edu	37	1	38355352	38355352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:38355352G>A	uc001ccf.1	-	2	219	c.182C>T	c.(181-183)tCc>tTc	p.S61F	INPP5B_uc009vvk.1_Missense_Mutation_p.S166F|INPP5B_uc001ccg.1_Missense_Mutation_p.S225F|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	305					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTGATAGTGGAGGAGCGAAC	0.393000														82			17		0	0	0.008871	0	0
OR52E6	390078	broad.mit.edu	37	11	5862319	5862319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5862319G>A	uc010qzq.2	-	0	809	c.809C>T	c.(808-810)cCc>cTc	p.P270L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATATATTGGGGAATATCATG	0.413000														57			5		0	0	0.000602	0	0
FUT5	2527	broad.mit.edu	37	19	5867295	5867295	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:5867295A>G	uc002mdo.4	-	1	613	c.442T>C	c.(442-444)Ttc>Ctc	p.F148L	FUT5_uc010duo.3_Missense_Mutation_p.F148L|FUT5_uc021uno.1_Missense_Mutation_p.F148L	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	148					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TCCATGCTGAACCAGATCCAG	0.627000														45			11		0	0	0.008291	0	0
CXorf61	203413	broad.mit.edu	37	X	115593162	115593162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:115593162C>T	uc004eqj.1	-	1	208	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	30						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						GATGACATTTCGCCAGTGTTT	0.383000														21			11		0	0	0.010729	0	0
ELN	2006	broad.mit.edu	37	7	73455557	73455557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73455557C>T	uc003tzw.3	+	4	299	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.L70F|ELN_uc003tzy.3_Missense_Mutation_p.L60F|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Missense_Mutation_p.L70F|ELN_uc003tzp.3_Missense_Mutation_p.L60F|ELN_uc003tzq.3_Missense_Mutation_p.L70F|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.L70F|ELN_uc003tzt.3_Missense_Mutation_p.L70F|ELN_uc003tzu.3_Missense_Mutation_p.L70F|ELN_uc003tzv.3_Missense_Mutation_p.L60F|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.L60F|ELN_uc011kff.2_Missense_Mutation_p.L70F	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	70					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCCGGAGGGCTTGCGGGTGC	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							191			55		0	0	0.014410	0	0
PTK2B	2185	broad.mit.edu	37	8	27288476	27288476	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:27288476C>T	uc003xfn.2	+	12	1561	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PTK2B_uc022ate.1_Silent_p.F251F|PTK2B_uc003xfp.2_Silent_p.F251F|PTK2B_uc003xfq.2_Silent_p.F251F|PTK2B_uc010luq.1_Silent_p.F22F|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	251	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGTTCTTCAACACTCTCG	0.577000														65			10		0	0	0.006214	0	0
KIDINS220	57498	broad.mit.edu	37	2	8872048	8872048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:8872048G>A	uc002qzc.2	-	29	4300	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.S1274L|KIDINS220_uc002qzb.2_Missense_Mutation_p.S227L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1373					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGTAAGCTTTGAAATTTCAAT	0.413000														66			6		0	0	0.001984	0	0
MRFAP1	93621	broad.mit.edu	37	4	6642900	6642901	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:6642900_6642901CC>TT	uc003gjh.1	+	0	456_457	c.311_312CC>TT	c.(310-312)gcc>gTT	p.A104V	MRFAP1_uc003gjg.1_Missense_Mutation_p.A104V|MRFAP1_uc021xla.1_Missense_Mutation_p.A104V	NM_033296	NP_150638	Q9Y605	MOFA1_HUMAN	Homo sapiens Morf4 family associated protein 1 (MRFAP1), mRNA.	104						nucleus|perinuclear region of cytoplasm	protein binding			lung(1)	1						GAGGAGAAGGCCAAGGAGATTG	0.683000														53			6		0	0	0.004672	0	0
GFI1B	8328	broad.mit.edu	37	9	135864500	135864500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:135864500G>A	uc004ccg.3	+	4	918	c.563G>A	c.(562-564)gGg>gAg	p.G188E	GFI1B_uc010mzy.3_Intron	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	188	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCCATAGTGGGACCCGGCCC	0.672000														25			5		0	0	0.001168	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157208	26157208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:26157208G>A	uc022bub.1	+	0	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	MAGEB18_uc004dbq.2_Missense_Mutation_p.E36K	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	36							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						GGCAGAAGGAGAGTCACCCTC	0.577000														10			6		0	0	0.001984	0	0
CCDC3	83643	broad.mit.edu	37	10	12940522	12940522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:12940522C>T	uc001ilq.1	-	2	841	c.707G>A	c.(706-708)cGc>cAc	p.R236H	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	236						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CTCCAGGTGGCGGCCCTTCTT	0.682000														78			6		0	0	0.003080	0	0
PXDNL	137902	broad.mit.edu	37	8	52366118	52366118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:52366118G>A	uc003xqu.4	-	9	1311	c.1210C>T	c.(1210-1212)Cac>Tac	p.H404Y		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	404	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACAGTGCCGTGGCTATTGTTG	0.458000														49			6		0	0	0.001168	0	0
DDR1	780	broad.mit.edu	37	6	30864868	30864868	+	Silent	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:30864868T>A	uc003nrv.3	+	12	1989	c.1947T>A	c.(1945-1947)ccT>ccA	p.P649P	DDR1_uc010jse.3_Silent_p.P612P|DDR1_uc003nrq.3_Silent_p.P612P|DDR1_uc003nrr.3_Silent_p.P649P|DDR1_uc003nrs.3_Silent_p.P649P|DDR1_uc003nrt.3_Silent_p.P612P|DDR1_uc011dms.2_Silent_p.P630P|DDR1_uc003nru.3_Silent_p.P612P|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Silent_p.P503P|DDR1_uc003nrw.1_Silent_p.P384P	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	649	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGGACACCCTTTGCTGGTAG	0.537000														76			7		0	0	0.003080	0	0
MGAT4A	11320	broad.mit.edu	37	2	99256428	99256428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:99256428G>A	uc002sze.3	-	11	1479	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	MGAT4A_uc010yvm.2_Missense_Mutation_p.H261Y|MGAT4A_uc010fil.3_Missense_Mutation_p.H143Y	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	389					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GGGTTTACATGGATTTTAAGA	0.368000														31			6		0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61831712	61831712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61831712G>A	uc001jky.3	-	36	9265	c.8927C>T	c.(8926-8928)cCc>cTc	p.P2976L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2976					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						AAAACCATCGGGAATATTAGA	0.453000														48			8		0	0	0.006214	0	0
ITGA4	3676	broad.mit.edu	37	2	182399546	182399546	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:182399546C>T	uc002unu.3	+	26	3650	c.2887C>T	c.(2887-2889)Cta>Tta	p.L963L	ITGA4_uc002unv.3_Silent_p.L208L	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	963					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)	CACGTAGGTTCTACTGGAAGG	0.338000														29			6		0	0	0.001984	0	0
CEP192	55125	broad.mit.edu	37	18	13040926	13040926	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:13040926T>G	uc010xac.2	+	13	1987	c.1907T>G	c.(1906-1908)aTg>aGg	p.M636R	CEP192_uc010dlf.1_Intron|CEP192_uc010xad.2_Missense_Mutation_p.M161R|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.M377R	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	231								p.T636R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAAAAGAAATGGCTCATCTT	0.338000														64			11		0	0	0.001855	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917050	25917050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:25917050G>A	uc011dkb.2	-	6	876	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	SLC17A2_uc011dkc.2_Missense_Mutation_p.P265S|SLC17A2_uc003nfl.3_Missense_Mutation_p.P265S			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	265					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTTTATGGGGACAGCTCGT	0.493000														35			4		0	0	0.009096	0	0
C9orf139	401563	broad.mit.edu	37	9	139929401	139929401	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139929401A>T	uc004ckp.1	+	2	1982	c.468A>T	c.(466-468)gaA>gaT	p.E156D	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	156										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TTTGCCCAGAAATGGGTCAGA	0.622000														65			6		0	0	0.001984	0	0
ZNF501	115560	broad.mit.edu	37	3	44776524	44776524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:44776524C>T	uc003cnu.1	+	2	1012	c.611C>T	c.(610-612)tCc>tTc	p.S204F	ZNF501_uc021wwq.1_Missense_Mutation_p.S204F	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		CAGAACTCTTCCCTTGTTGAA	0.418000														26			4		0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113353862	113353862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:113353862C>T	uc003ynu.3	-	41	6655	c.6496G>A	c.(6496-6498)Gaa>Aaa	p.E2166K	CSMD3_uc003yns.3_Missense_Mutation_p.E1368K|CSMD3_uc003ynt.3_Missense_Mutation_p.E2126K|CSMD3_uc011lhx.2_Missense_Mutation_p.E2062K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2166	CUB 12.					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						CTTCGTACTTCCAAATAATCA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			5		0	0	0.001168	0	0
OR51B4	79339	broad.mit.edu	37	11	5322391	5322391	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5322391C>T	uc010qza.2	-	0	786	c.786G>A	c.(784-786)ggG>ggA	p.G262G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G262G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCATGTTTCCCAAACCTGT	0.423000														45			5		0	0	0.001984	0	0
NF1	4763	broad.mit.edu	37	17	29684035	29684035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:29684035C>T	uc002hgg.3	+	52	8179	c.7796C>T	c.(7795-7797)tCt>tTt	p.S2599F	NF1_uc002hgh.3_Missense_Mutation_p.S2578F|NF1_uc010cso.3_Missense_Mutation_p.S787F|NF1_uc010wbt.1_Missense_Mutation_p.S77F|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2599					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.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTCAGTGTCTGAATCAAAT	0.423000			"""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)				92			12		0	0	0.001855	0	0
COL2A1	1280	broad.mit.edu	37	12	48391405	48391405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:48391405G>A	uc001rqu.3	-	6	696	c.515C>T	c.(514-516)cCc>cTc	p.P172L	COL2A1_uc001rqv.3_Missense_Mutation_p.P103L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	172					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AAgaccagggggaccaggggg	0.582000														26			5		0	0	0.000602	0	0
GATA2	2624	broad.mit.edu	37	3	128204917	128204917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:128204917G>A	uc003ekm.3	-	3	959	c.524C>T	c.(523-525)cCc>cTc	p.P175L	GATA2_uc003ekn.3_Missense_Mutation_p.P175L|GATA2_uc003eko.2_Missense_Mutation_p.P175L	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	175					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P174P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGTGGCGTGGGTGGGAAGCC	0.682000			Mis		AML(CML blast transformation)									29			4		0	0	0.009096	0	0
FLRT3	23767	broad.mit.edu	37	20	14306803	14306803	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:14306803T>C	uc021war.1	-	0	1350	c.1350A>G	c.(1348-1350)ggA>ggG	p.G450G	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.G450G|FLRT3_uc002wow.2_Silent_p.G450G	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	450	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGTTATAGATCCAAATGCCG	0.463000														50			5		0	0	0.000602	0	0
WNT7A	7476	broad.mit.edu	37	3	13860784	13860784	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:13860784A>G	uc003bye.1	-	3	1012	c.707T>C	c.(706-708)gTt>gCt	p.V236A		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	236					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTCCACGTGAACGGCCTCGTT	0.617000														50			6		0	0	0.001168	0	0
TTC40	54777	broad.mit.edu	37	10	134646941	134646941	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:134646941G>A	uc021qbc.1	-	49	7139	c.7038C>T	c.(7036-7038)ttC>ttT	p.F2346F		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	507										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCCTTCATCGAACACAGAGA	0.517000														91			11		0	0	0.008291	0	0
TJP3	27134	broad.mit.edu	37	19	3730061	3730061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:3730061C>T	uc010xhv.2	+	2	251	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TJP3_uc010xhs.2_Missense_Mutation_p.S65F|TJP3_uc010xht.2_Missense_Mutation_p.S29F|TJP3_uc010xhu.2_Missense_Mutation_p.S74F|TJP3_uc010xhw.2_Missense_Mutation_p.S84F	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	65	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AACGGGGTTTCCATGGAGAAT	0.587000														69			14		0	0	0.003163	0	0
TAOK2	9344	broad.mit.edu	37	16	29998403	29998403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:29998403C>T	uc010bzm.2	+	14	2866	c.2831C>T	c.(2830-2832)cCc>cTc	p.P944L	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P824L|TAOK2_uc002dva.2_Missense_Mutation_p.P937L|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P764L	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	937	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.S943S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CACCTGAGGCCCTGCCCTGCC	0.662000														109			11		0	0	0.010729	0	0
TFEB	7942	broad.mit.edu	37	6	41655724	41655724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41655724G>A	uc021yzl.1	-	3	794	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	TFEB_uc003oqs.1_Missense_Mutation_p.P198S|TFEB_uc003oqt.1_Missense_Mutation_p.P198S|TFEB_uc003oqu.1_Missense_Mutation_p.P198S|TFEB_uc003oqv.1_Missense_Mutation_p.P198S|TFEB_uc010jxo.1_Missense_Mutation_p.P198S|TFEB_uc003oqr.1_Missense_Mutation_p.P113S	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	198	Helix-loop-helix motif.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTGACCTGGGGGTCGCTGCTG	0.662000			T	ALPHA	renal (childhood epithelioid)									63			12		0	0	0.013537	0	0
DNAH9	1770	broad.mit.edu	37	17	11666784	11666784	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11666784G>A	uc002gne.3	+	35	7091	c.7023G>A	c.(7021-7023)gaG>gaA	p.E2341E	DNAH9_uc010coo.3_Silent_p.E1635E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2341					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATCCCAGAGCAGAGCATGG	0.483000														100			12		0	0	0.004007	0	0
ZNF197	10168	broad.mit.edu	37	3	44684905	44684905	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:44684905C>T	uc003cnm.3	+	5	2489	c.2283C>T	c.(2281-2283)ccC>ccT	p.P761P	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	761					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAGAAAAACCCTTTGAATGCA	0.433000														63			12		0	0	0.010729	0	0
DDX19B	11269	broad.mit.edu	37	16	70363949	70363949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:70363949C>T	uc002eyo.3	+	8	1130	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Missense_Mutation_p.A308V|DDX19B_uc010vlw.2_Missense_Mutation_p.A225V|DDX19B_uc002eyp.3_Missense_Mutation_p.A303V|DDX19B_uc002eyq.3_Missense_Mutation_p.A225V|DDX19B_uc010vlx.2_Missense_Mutation_p.A183V|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	334	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ATCACCATTGCTCAAGCCATG	0.582000														66			8		0	0	0.004482	0	0
SI	6476	broad.mit.edu	37	3	164792437	164792437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164792437G>A	uc003fei.3	-	2	200	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	46	Ser/Thr-rich.				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	p.S46L(2)		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)	AGCTGGAGTTGAAGTAGAATC	0.318000										HNSCC(35;0.089)				67			5		0	0	0.001168	0	0
EXD2	55218	broad.mit.edu	37	14	69701570	69701570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:69701570C>T	uc001xky.3	+	5	1117	c.871C>T	c.(871-873)Cca>Tca	p.P291S	EXD2_uc001xkt.3_Missense_Mutation_p.P166S|EXD2_uc001xkv.3_Missense_Mutation_p.P291S|EXD2_uc001xkw.3_Missense_Mutation_p.P166S|EXD2_uc001xku.3_Missense_Mutation_p.P36S|EXD2_uc001xkx.3_Missense_Mutation_p.P166S|EXD2_uc010aqt.3_Missense_Mutation_p.P291S|EXD2_uc010tte.2_Missense_Mutation_p.P291S	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	166					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGTCGACATCCCATTTCGAAG	0.443000														38			7		0	0	0.003080	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605195	37605196	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:37605195_37605196CC>TT	uc002yvg.3	+	14	2523_2524	c.2444_2445CC>TT	c.(2443-2445)tcc>tTT	p.S815F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S815F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	815					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGGCCATTTCCACTCTGCTGG	0.485000														77			10		0	0	0.004672	0	0
PRG4	10216	broad.mit.edu	37	1	186278155	186278155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:186278155G>A	uc001gru.4	+	6	3355	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.G1061R|PRG4_uc009wyl.3_Missense_Mutation_p.G1009R|PRG4_uc009wym.3_Missense_Mutation_p.G968R|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1102					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGGTGCTGAAGGAGAAACACC	0.463000														32			5		0	0	0.000602	0	0
C16orf71	146562	broad.mit.edu	37	16	4793059	4793059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4793059G>A	uc002cxn.3	+	4	1261	c.799G>A	c.(799-801)Gat>Aat	p.D267N		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	267								p.W266>?(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGAAGCGTGGGATTTGGATGA	0.522000														112			9		0	0	0.006214	0	0
SYN3	8224	broad.mit.edu	37	22	32929853	32929853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32929853C>T	uc003amx.3	-	8	1183	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	SYN3_uc003amy.3_Missense_Mutation_p.E341K|SYN3_uc003amz.3_Missense_Mutation_p.E340K	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	341	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCAAACATTTCCGAGCAGCTG	0.577000														36			4		0	0	0.000602	0	0
CFTR	1080	broad.mit.edu	37	7	117175424	117175424	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:117175424C>T	uc003vjd.3	+	5	834	c.702C>T	c.(700-702)gcC>gcT	p.A234A	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	234	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TAGTCCTTGCCCTTTTTCAGG	0.443000									Cystic Fibrosis					74			6		0	0	0.001984	0	0
ARMC4	55130	broad.mit.edu	37	10	28224025	28224025	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:28224025C>T	uc009xky.3	-	15	2507	c.2409G>A	c.(2407-2409)gtG>gtA	p.V803V	ARMC4_uc010qds.2_Silent_p.V328V|ARMC4_uc010qdt.2_Silent_p.V495V|ARMC4_uc001itz.3_Silent_p.V803V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	803							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						CAAGGAGGTTCACAAGTGGTT	0.458000														75			20		0	0	0.014323	0	0
FRRS1	391059	broad.mit.edu	37	1	100206365	100206365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:100206365G>A	uc001dsh.1	-	5	1162	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	187					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)		GGTTAAGTGGGAAACGGGAGG	0.433000														96			8		0	0	0.008291	0	0
NOS1	4842	broad.mit.edu	37	12	117768363	117768363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:117768363G>A	uc001twn.2	-	1	1223	c.512C>T	c.(511-513)tCa>tTa	p.S171L	NOS1_uc001twm.2_Missense_Mutation_p.S171L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	171	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGGGGAGTGAGCCAGCCTC	0.667000														67			10		0	0	0.006214	0	0
ZEB1	6935	broad.mit.edu	37	10	31815838	31815838	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:31815838G>A	uc001ivs.4	+	8	3084	c.3021G>A	c.(3019-3021)tcG>tcA	p.S1007S	ZEB1_uc001ivr.4_Silent_p.S789S|ZEB1_uc010qef.2_Silent_p.S789S|ZEB1_uc001ivu.4_Silent_p.S1008S|ZEB1_uc010qeh.2_Silent_p.S940S|ZEB1_uc001ivv.4_Silent_p.S987S|ZEB1_uc001ivt.4_Silent_p.S789S|ZEB1_uc009xlo.2_Silent_p.S990S|ZEB1_uc009xlp.3_Silent_p.S991S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1007	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATCCTCTCGAATGAGCACG	0.522000														27			5		0	0	0.000602	0	0
MTUS2	23281	broad.mit.edu	37	13	29600796	29600796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:29600796C>T	uc001usl.4	+	0	2049	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	654	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AATCCCCAGGCCCTGGGCCAG	0.572000														25			4		0	0	0.009096	0	0
GPR112	139378	broad.mit.edu	37	X	135405401	135405401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135405401C>T	uc004ezu.1	+	4	826	c.535C>T	c.(535-537)Cct>Tct	p.P179S	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	179					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)					GCGTAGCTTTCCTGGCAGCTT	0.448000														36			22		0	0	0.003330	0	0
YLPM1	56252	broad.mit.edu	37	14	75247204	75247204	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:75247204C>T	uc001xqj.4	+	2	1331	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	YLPM1_uc001xql.4_5'Flank	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	225	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTCCAGTATCAGGGAATAAT	0.493000														79			15		0	0	0.004007	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485316	14485316	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:14485316C>T	uc010heg.3	+	2	473	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SLC6A6_uc010hee.1_Silent_p.F58F|SLC6A6_uc003byp.3_Silent_p.F58F|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.F58F|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	58					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTGGCGGCTTCGTGGGCTTGG	0.627000														60			10		0	0	0.013537	0	0
CPAMD8	27151	broad.mit.edu	37	19	17014415	17014415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17014415C>T	uc002nfb.3	-	33	4599	c.4567G>A	c.(4567-4569)Ggg>Agg	p.G1523R	CPAMD8_uc002nfd.1_5'UTR	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1476						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAAACAGCCCCGTGGGGAGG	0.627000														46			7		0	0	0.003080	0	0
SIN3B	23309	broad.mit.edu	37	19	16980351	16980352	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16980351_16980352CC>TT	uc002ney.2	+	13	2006_2007	c.1983_1984CC>TT	c.(1981-1986)atcctg>atTTtg	p.661_662IL>IL	SIN3B_uc002nez.2_Silent_p.629_630IL>IL|SIN3B_uc010xpi.1_Silent_p.219_220IL>IL	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	661					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCGGCAGATCCTGGAGGACGC	0.658000														21			6		0	0	0.004672	0	0
PCDH18	54510	broad.mit.edu	37	4	138451522	138451522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:138451522G>A	uc003ihe.4	-	0	2108	c.1721C>T	c.(1720-1722)cCt>cTt	p.P574L	PCDH18_uc003ihf.4_Missense_Mutation_p.P567L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.P354L|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	574	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TATAACCACAGGAACGTTGTC	0.453000														121			14		0	0	0.004007	0	0
ALMS1	7840	broad.mit.edu	37	2	73678216	73678216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:73678216C>T	uc002sje.1	+	7	4670	c.4559C>T	c.(4558-4560)cCt>cTt	p.P1520L	ALMS1_uc002sjf.1_Missense_Mutation_p.P1478L|ALMS1_uc002sjg.3_Missense_Mutation_p.P908L|ALMS1_uc002sjh.1_Missense_Mutation_p.P908L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1520	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAACCTCTCCTTCCTACTCA	0.488000														94			9		0	0	0.013537	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259353	32259353	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32259353C>T	uc001bts.1	-	11	2587	c.2529G>A	c.(2527-2529)caG>caA	p.Q843Q	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Silent_p.Q843Q|SPOCD1_uc001btv.3_Silent_p.Q336Q|SPOCD1_uc021oks.1_Silent_p.Q148Q	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	843					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACACCTGTCCTGTGGTTCCG	0.572000														55			12		0	0	0.001855	0	0
RPTN	126638	broad.mit.edu	37	1	152129231	152129231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152129231C>T	uc001ezs.1	-	2	409	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	115	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTGTGTTTCCTGGGAACTT	0.527000														193			31		0	0	0.010818	0	0
PLG	5340	broad.mit.edu	37	6	161134069	161134069	+	Silent	SNP	G	A	A	rs144153702	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:161134069G>A	uc003qtm.4	+	4	571	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	153	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTACTGCAGGAATCCAGACA	0.483000														79			9		0	0	0.004482	0	0
PRDM9	56979	broad.mit.edu	37	5	23527702	23527702	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:23527702G>A	uc003jgo.3	+	10	2687	c.2505G>A	c.(2503-2505)agG>agA	p.R835R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	835					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTCTGCAGGGAGTGTGGGC	0.597000										HNSCC(3;0.000094)				55			10		0	0	0.006214	0	0
SEC31B	25956	broad.mit.edu	37	10	102257867	102257867	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102257867G>A	uc001krc.1	-	14	1884	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	SEC31B_uc010qpo.1_Silent_p.I593I|SEC31B_uc001krd.1_Silent_p.I131I|SEC31B_uc001krf.1_Silent_p.I131I|SEC31B_uc001kre.1_Silent_p.I131I|SEC31B_uc001krg.1_Silent_p.I163I	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	594					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCTGGGCCAGGATAATGGCAT	0.552000														52			7		0	0	0.003080	0	0
JPH1	56704	broad.mit.edu	37	8	75227223	75227223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:75227223G>A	uc003yae.3	-	1	1052	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	JPH1_uc003yaf.3_Missense_Mutation_p.R338C|JPH1_uc003yag.1_Missense_Mutation_p.R202C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	338					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTTATCCCACGGACCAGAATA	0.473000														91			9		0	0	0.004482	0	0
KL	9365	broad.mit.edu	37	13	33629412	33629412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:33629412C>T	uc001uus.3	+	2	1567	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	KL_uc001uur.1_Missense_Mutation_p.P213L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGGACATTTCCCTGTGACTTT	0.438000														50			9		0	0	0.004482	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839807	27839807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:27839807G>A	uc022bud.1	+	0	384	c.384G>A	c.(382-384)atG>atA	p.M128I	MAGEB10_uc004dbw.3_Missense_Mutation_p.M128I	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	128	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGTACCAAATGAAAGAGCCCA	0.443000														8			4		0	0	0.009096	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616044	33616044	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33616044G>A	uc003jia.1	-	14	2440	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	ADAMTS12_uc010iuq.1_Silent_p.I674I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	759	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGTTCCACTGGATAATAAACC	0.473000										HNSCC(64;0.19)				63			5		0	0	0.000602	0	0
PLCB1	23236	broad.mit.edu	37	20	8698442	8698442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:8698442C>T	uc002wnb.3	+	13	1463	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	PLCB1_uc010zrb.1_Missense_Mutation_p.S386F|PLCB1_uc002wna.3_Missense_Mutation_p.S487F|PLCB1_uc002wnc.1_Missense_Mutation_p.S386F|PLCB1_uc002wnd.1_Missense_Mutation_p.S64F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	487					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAACAAGCCTCCAACACCTAC	0.473000														22			6		0	0	0.001984	0	0
PUM1	9698	broad.mit.edu	37	1	31467992	31467992	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:31467992G>A	uc001bsi.1	-	5	909	c.796C>T	c.(796-798)Cta>Tta	p.L266L	PUM1_uc001bsf.1_5'Flank|PUM1_uc001bsh.1_Silent_p.L266L|PUM1_uc001bsj.1_Silent_p.L266L|PUM1_uc010oga.1_Silent_p.L170L|PUM1_uc001bsk.1_Silent_p.L302L|PUM1_uc010ogb.1_Silent_p.L206L	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	266					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAATCTCCTAGCTTATCTCCA	0.428000														121			23		0	0	0.003330	0	0
ZAN	7455	broad.mit.edu	37	7	100350649	100350649	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100350649A>G	uc003uwj.3	+	13	3086	c.2921A>G	c.(2920-2922)gAa>gGa	p.E974G	ZAN_uc003uwk.3_Missense_Mutation_p.E974G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	974	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCCCACGGAAAAACTTACC	0.552000														46			9		0	0	0.006214	0	0
WBP11	51729	broad.mit.edu	37	12	14947951	14947951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:14947951G>A	uc001rci.3	-	5	636	c.475C>T	c.(475-477)Cct>Tct	p.P159S		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	159	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGGCACCAGGAAGTGGAATG	0.463000														100			12		0	0	0.004007	0	0
GNAS	2778	broad.mit.edu	37	20	57474005	57474005	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:57474005A>T	uc002xzw.3	+	2	2436	c.2151A>T	c.(2149-2151)gaA>gaT	p.E717D	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.E42D|GNAS_uc010gjq.3_Missense_Mutation_p.E15D|GNAS_uc002xzv.3_Non-coding_Transcript|GNAS_uc002xzx.3_Missense_Mutation_p.E15D|GNAS_uc021wfn.1_Missense_Mutation_p.E74D|GNAS_uc021wfo.1_Missense_Mutation_p.E74D|GNAS_uc002yaa.3_Intron|GNAS_uc021wfp.1_Intron|GNAS_uc002yad.3_5'UTR	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	74					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.E717E(1)|p.E74E(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGGCGGCGAAGAGGACCCGC	0.473000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				86			17		0	0	0.006122	0	0
FREM1	158326	broad.mit.edu	37	9	14848671	14848671	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:14848671C>T	uc003zlm.3	-	7	2069	c.1253G>A	c.(1252-1254)tGg>tAg	p.W418*	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	418					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCTGTATTCCAGGATACACG	0.423000														35			5		0	0	0.001984	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301832	120301832	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:120301832C>T	uc001eid.3	-	3	847	c.759G>A	c.(757-759)gtG>gtA	p.V253V	HMGCS2_uc010oxj.2_Silent_p.V211V|HMGCS2_uc021osw.1_Silent_p.V19V|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	253					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GCTTCCCATCCACTATTGGGT	0.458000														379			47		0	0	0.014410	0	0
AGL	178	broad.mit.edu	37	1	100346653	100346653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:100346653C>T	uc001dsi.1	+	14	2321	c.1921C>T	c.(1921-1923)Ctt>Ttt	p.L641F	AGL_uc001dsj.1_Missense_Mutation_p.L641F|AGL_uc001dsk.1_Missense_Mutation_p.L641F|AGL_uc001dsl.1_Missense_Mutation_p.L641F|AGL_uc001dsm.1_Missense_Mutation_p.L625F|AGL_uc001dsn.1_Missense_Mutation_p.L624F	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	641					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTATGATGCTCTTCCAAGTAC	0.353000														42			9		0	0	0.010729	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077039	144077039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:144077039C>T	uc003wel.3	+	14	4802	c.4684C>T	c.(4684-4686)Cct>Tct	p.P1562S	ARHGEF5_uc003wem.3_Missense_Mutation_p.P363S	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1562	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGCTGGTTTCCTGTGCAGCA	0.572000														116			12		0	0	0.002450	0	0
CHM	1121	broad.mit.edu	37	X	85218957	85218958	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:85218957_85218958GG>AC	uc004eet.3	-	4	444_445	c.414_415CC>GT	c.(412-417)ttcctg>ttGTtg	p.F138L	CHM_uc011mqz.2_5'UTR	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	138					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCCGTAGGCAGGAAGGCAGAAT	0.470000														18			9		0	0	0.004672	0	0
KCNH7	90134	broad.mit.edu	37	2	163241236	163241236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:163241236C>T	uc002uch.2	-	12	3153	c.2924G>A	c.(2923-2925)gGa>gAa	p.G975E		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	975					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGCATTCTTCCTGAGGTGGG	0.428000														60			9		0	0	0.004482	0	0
WDFY2	115825	broad.mit.edu	37	13	52313270	52313270	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52313270C>T	uc001vfp.3	+	6	1024	c.684C>T	c.(682-684)atC>atT	p.I228I	WDFY2_uc010ads.1_Silent_p.I228I|WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	228							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TGTGGGACATCGGTGGGAGAA	0.517000														49			7		0	0	0.001984	0	0
COPG1	22820	broad.mit.edu	37	3	128979213	128979213	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:128979213C>T	uc003els.3	+	10	1009	c.909C>T	c.(907-909)ctC>ctT	p.L303L	COPG1_uc010htb.3_Silent_p.L209L	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	303					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										AGGCTGCTCTCCGCTATGCTG	0.567000														77			5		0	0	0.003080	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691626	41691626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:41691626C>T	uc003gvz.4	+	29	4666	c.4249C>T	c.(4249-4251)Ctc>Ttc	p.L1417F	LIMCH1_uc003gwe.4_Missense_Mutation_p.L930F|LIMCH1_uc003gvu.4_Missense_Mutation_p.L1033F|LIMCH1_uc003gvv.4_Missense_Mutation_p.L1007F|LIMCH1_uc003gvw.4_Missense_Mutation_p.L1006F|LIMCH1_uc003gvx.4_Missense_Mutation_p.L1019F|LIMCH1_uc003gvy.4_Missense_Mutation_p.L835F|LIMCH1_uc003gwa.4_Missense_Mutation_p.L847F|LIMCH1_uc011byu.2_Missense_Mutation_p.L866F|LIMCH1_uc003gwc.4_Missense_Mutation_p.L852F|LIMCH1_uc003gwd.4_Missense_Mutation_p.L840F|LIMCH1_uc011byv.2_Missense_Mutation_p.L783F|LIMCH1_uc011byw.2_Missense_Mutation_p.L306F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1033					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GACCCTCAATCTCTATTTTCA	0.433000														53			5		0	0	0.001984	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370151	21370151	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21370151G>A	uc001req.4	+	11	1700	c.1596G>A	c.(1594-1596)agG>agA	p.R532R		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTGTACAAGGAAATTTTACT	0.378000														52			9		0	0	0.006214	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58340857	58340857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:58340857C>T	uc001sqp.3	+	2	353	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	105					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	p.S104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TTCAACATCTCAGGTAGGCAT	0.383000														48			9		0	0	0.006214	0	0
RTKN2	219790	broad.mit.edu	37	10	64022525	64022525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64022525C>T	uc001jlw.3	-	1	213	c.116G>A	c.(115-117)tGg>tAg	p.W39*	ZNF365_uc001jly.4_Intron|RTKN2_uc001jlx.2_Nonsense_Mutation_p.W39*	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	39					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGTTTCCATATTCCTTC	0.353000														27			15		0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82585486	82585486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:82585486C>T	uc003uhx.2	-	4	5072	c.4783G>A	c.(4783-4785)Gaa>Aaa	p.E1595K	PCLO_uc003uhv.2_Missense_Mutation_p.E1595K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1526					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						TTTGTTTCTTCCTTCTTCTGG	0.428000														180			15		0	0	0.004990	0	0
WWP1	11059	broad.mit.edu	37	8	87393068	87393069	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87393068_87393069CC>TT	uc003ydt.3	+	3	464_465	c.184_185CC>TT	c.(184-186)cca>TTa	p.P62L	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	62	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTTCTAATCCAAAATGGGAT	0.322000														19			4		0	0	0.004672	0	0
EPN1	29924	broad.mit.edu	37	19	56206615	56206615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56206615C>T	uc002qlw.3	+	10	1966	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	EPN1_uc002qlv.3_Missense_Mutation_p.P516S|EPN1_uc010etd.3_Missense_Mutation_p.P541S|EPN1_uc002qlx.3_Missense_Mutation_p.P628S	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	542	3 X 3 AA repeats of N-P-F.|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)		GCCTCCCGTCCCTGGAGCGCC	0.711000														9			3		0	0	0.009096	0	0
PISD	23761	broad.mit.edu	37	22	32017036	32017037	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:32017036_32017037GG>AA	uc003alm.4	-	5	847_848	c.789_790CC>TT	c.(787-792)taccac>taTTac	p.H264Y	PISD_uc003alk.2_Missense_Mutation_p.H230Y|PISD_uc011alr.1_Missense_Mutation_p.H230Y	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	264					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGGAAGCAGTGGTAGTCCCCAG	0.639000											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37			7		0	0	0.004672	0	0
MAP3K5	4217	broad.mit.edu	37	6	137019667	137019667	+	Missense_Mutation	SNP	G	A	A	rs145735047		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:137019667G>A	uc003qhc.3	-	3	1127	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	MAP3K5_uc011edk.1_Missense_Mutation_p.R101C|MAP3K5_uc010kgw.1_Missense_Mutation_p.R256C	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	256					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding	p.R256C(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAATAAAACGATCCACAAGA	0.408000														17			4		0	0	0.009096	0	0
BRPF3	27154	broad.mit.edu	37	6	36178189	36178189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36178189C>T	uc003olv.4	+	5	2287	c.2063C>T	c.(2062-2064)gCc>gTc	p.A688V	BRPF3_uc010jwb.3_Missense_Mutation_p.A688V|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.A688V	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	688					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGGGAGGGGCCATCCTACGG	0.562000														71			9		0	0	0.010729	0	0
PSIP1	11168	broad.mit.edu	37	9	15486016	15486016	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:15486016C>T	uc003zlv.4	-	5	774	c.444G>A	c.(442-444)ggG>ggA	p.G148G	PSIP1_uc003zlw.4_Silent_p.G148G|PSIP1_uc003zlz.4_Silent_p.G148G|PSIP1_uc003zma.4_Silent_p.G148G|PSIP1_uc003zly.3_Silent_p.G148G	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	148					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCTCTTTCTCCCCCTTCTGG	0.348000														118			12		0	0	0.002450	0	0
IL10RA	3587	broad.mit.edu	37	11	117859150	117859150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:117859150C>T	uc001prv.3	+	1	198	c.121C>T	c.(121-123)Cac>Tac	p.H41Y	IL10RA_uc010rxl.2_Missense_Mutation_p.H21Y|IL10RA_uc010rxm.2_Missense_Mutation_p.H21Y|IL10RA_uc010rxn.2_5'UTR|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	41						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATTTTTCCACCACATCCTCCA	0.577000														50			11		0	0	0.001855	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022595	20022595	+	Silent	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:20022595A>G	uc011kyq.2	-	9	1353	c.882T>C	c.(880-882)ttT>ttC	p.F294F	SLC18A1_uc003wzm.3_Silent_p.F294F|SLC18A1_uc011kyr.2_Silent_p.F294F|SLC18A1_uc003wzn.3_Silent_p.F294F|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)		TGAGAAGCATAAAGAGGGGAG	0.498000														51			9		0	0	0.006214	0	0
CFHR1	3078	broad.mit.edu	37	1	196762609	196762609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196762609G>A	uc001gtl.3	+	5	1046	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.R259Q|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	318	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GCAGTGTGTCGGGAAGGGATA	0.378000														55			6		0	0	0.003080	0	0
GAS7	8522	broad.mit.edu	37	17	9820631	9820631	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:9820631G>A	uc002gmg.1	-	13	1506	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	GAS7_uc010vvc.1_Nonsense_Mutation_p.R263*|GAS7_uc002gmh.1_Nonsense_Mutation_p.R309*|GAS7_uc010vvd.1_Nonsense_Mutation_p.R401*|GAS7_uc002gmi.2_Nonsense_Mutation_p.R385*|GAS7_uc002gmj.1_Nonsense_Mutation_p.R389*|GAS7_uc010coh.1_Nonsense_Mutation_p.R389*	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	449					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TCCACTTTTCGAAGCAGCTGA	0.582000			T	MLL	AML*									44			7		0	0	0.006214	0	0
SULF2	55959	broad.mit.edu	37	20	46294001	46294001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:46294001C>T	uc002xto.3	-	13	2269	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	SULF2_uc002xtr.3_Missense_Mutation_p.E647K|SULF2_uc002xtq.3_Missense_Mutation_p.E647K|SULF2_uc010zyd.2_5'UTR	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	647					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTCGGACTTCCCTCAGGTTC	0.512000														133			11		0	0	0.013537	0	0
RNF168	165918	broad.mit.edu	37	3	196198767	196198767	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196198767A>G	uc003fwq.3	-	5	2234	c.1639T>C	c.(1639-1641)Tcc>Ccc	p.S547P	RNF168_uc010iah.3_Missense_Mutation_p.S380P	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	547					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)		GCACTTTTGGATACCTTACAG	0.403000														98			9		0	0	0.006214	0	0
UBE2F	140739	broad.mit.edu	37	2	238881789	238881789	+	Missense_Mutation	SNP	C	T	T	rs139940522		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:238881789C>T	uc002vxk.3	+	1	244	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.L14F|UBE2F_uc010znp.2_Missense_Mutation_p.L14F|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	14	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TGACGATGGTCTCAAAGGGTC	0.498000														49			6		0	0	0.001168	0	0
NCALD	83988	broad.mit.edu	37	8	102705104	102705105	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:102705104_102705105GG>AA	uc003yke.3	-	2	767_768	c.398_399CC>TT	c.(397-399)tcc>tTT	p.S133F	NCALD_uc003ykf.3_Missense_Mutation_p.S133F|NCALD_uc003ykg.3_Missense_Mutation_p.S133F|NCALD_uc003ykh.3_Missense_Mutation_p.S133F|NCALD_uc003yki.3_Missense_Mutation_p.S133F|NCALD_uc003ykj.3_Missense_Mutation_p.S133F|NCALD_uc003ykk.3_Missense_Mutation_p.S133F|NCALD_uc003ykl.3_Missense_Mutation_p.S133F	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	133					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCATTACAGAGGAAACCATCTT	0.465000														42			9		0	0	0.004672	0	0
SAP18	10284	broad.mit.edu	37	13	21715073	21715073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:21715073C>T	uc001uns.3	+	1	217	c.178C>T	c.(178-180)Cac>Tac	p.H60Y		NM_005870	NP_005861	O00422	SAP18_HUMAN	Homo sapiens Sin3A-associated protein, 18kDa (SAP18), mRNA.	41					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CGGCCGCCACCACCGAATGGA	0.592000														96			13		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179640441	179640441	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179640441C>T	uc021vsy.1	-	27	6375	c.6150G>A	c.(6148-6150)aaG>aaA	p.K2050K	TTN_uc021vsz.1_Silent_p.K2004K|TTN_uc021vta.1_Silent_p.K2004K|TTN_uc021vtb.1_Silent_p.K2004K|TTN_uc002unb.2_Silent_p.K2050K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2050							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)			CAAGAGCTTTCTTTTCCTCTT	0.408000														70			14		0	0	0.004990	0	0
C4orf51	646603	broad.mit.edu	37	4	146651099	146651099	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:146651099G>A	uc003ikk.3	+	4	483	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	161										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GTCGACGAGGGAAAGGTGTCC	0.483000														61			7		0	0	0.001984	0	0
RAB5B	5869	broad.mit.edu	37	12	56385228	56385228	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:56385228C>T	uc001siv.3	+	4	703	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	RAB5B_uc001siw.3_Silent_p.L175L|RAB5B_uc010spz.2_Silent_p.L134L|RAB5B_uc009zog.3_Silent_p.L115L	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	175					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGATCTCTTCCTGGCAATAGG	0.458000														56			7		0	0	0.006214	0	0
FANCD2	2177	broad.mit.edu	37	3	10106108	10106108	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:10106108G>A	uc003buw.3	+	21	2094	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	FANCD2_uc003bux.1_Silent_p.P672P|FANCD2_uc003buy.1_Silent_p.P672P|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	672					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTGTTGTTCCGGAAGGGTAGG	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					166			8		0	0	0.001855	0	0
KRT6A	3853	broad.mit.edu	37	12	52886439	52886439	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52886439G>A	uc001sam.3	-	0	743	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	178	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGTCGATGAAGGAGG	0.592000														76			5		0	0	0.001168	0	0
OR13C3	138803	broad.mit.edu	37	9	107298321	107298321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107298321C>T	uc004bcb.1	-	0	774	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGGCTGAATTCATTTGCAAGA	0.413000														66			7		0	0	0.004482	0	0
OR2L2	26246	broad.mit.edu	37	1	248201829	248201829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248201829G>A	uc001idw.3	+	0	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y86C(1)		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)			tttctgtatggaaacaagtct	0.418000														122			11		0	0	0.010729	0	0
DIDO1	11083	broad.mit.edu	37	20	61525227	61525227	+	Silent	SNP	G	A	A	rs111520535	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61525227G>A	uc002ydr.2	-	11	3204	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	DIDO1_uc002yds.2_Silent_p.S964S|DIDO1_uc002ydt.2_Silent_p.S964S|DIDO1_uc002ydu.2_Silent_p.S964S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	964					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S964S(2)		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)					GGTCCCGGCCGGACACTGTGA	0.687000														48			5		0	0	0.001168	0	0
CLDN9	9080	broad.mit.edu	37	16	3063921	3063921	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:3063921C>T	uc010uwo.1	+	0	1465	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	186					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCACGTGCCCCCCGCCCCAGG	0.721000														47			6		0	0	0.001168	0	0
ENPP5	59084	broad.mit.edu	37	6	46129414	46129414	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:46129414C>T	uc003oxz.1	-	3	1291	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Silent_p.K267K|ENPP5_uc003oya.1_Silent_p.K361K	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	361						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTGAGAAATTCTTTCTGAAGG	0.418000														311			30		0	0	0.003755	0	0
TRHDE	29953	broad.mit.edu	37	12	73046898	73046898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:73046898G>A	uc001sxa.3	+	16	2841	c.2811G>A	c.(2809-2811)tgG>tgA	p.W937*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	937					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTTGCCTGGAAGTTTTTCA	0.383000														35			6		0	0	0.001984	0	0
TACC2	10579	broad.mit.edu	37	10	123970247	123970247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:123970247C>T	uc001lfv.3	+	8	6667	c.6307C>T	c.(6307-6309)Ccc>Tcc	p.P2103S	TACC2_uc001lfw.3_Missense_Mutation_p.P249S|TACC2_uc009xzx.3_Missense_Mutation_p.P2058S|TACC2_uc010qtv.2_Missense_Mutation_p.P2107S|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.P181S|TACC2_uc001lga.3_Missense_Mutation_p.P181S|TACC2_uc009xzy.3_Missense_Mutation_p.P181S|TACC2_uc001lgb.3_Missense_Mutation_p.P138S|TACC2_uc010qtw.1_Missense_Mutation_p.P198S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2103						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)				CTCAGGCAATCCCGAGGCCGT	0.552000														62			7		0	0	0.003080	0	0
AMPH	273	broad.mit.edu	37	7	38433676	38433676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38433676C>T	uc003tgu.3	-	17	1753	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	AMPH_uc003tgv.3_Missense_Mutation_p.G471R|AMPH_uc003tgt.3_Missense_Mutation_p.G398R|AMPH_uc003tgw.1_Missense_Mutation_p.G536R|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	513					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTTTCAGTTCCAATTTTGGCC	0.597000														111			18		0	0	0.007413	0	0
LZTR1	8216	broad.mit.edu	37	22	21322194	21322194	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:21322194C>T	uc011ahx.1	+	1	247	c.36C>T	c.(34-36)atC>atT	p.I12I	LZTR1_uc002ztk.2_5'UTR|LZTR1_uc002ztj.2_5'UTR|LZTR1_uc002ztl.2_5'UTR			Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), transcript variant 4, non-coding RNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCTCCCCATCTGTGCTCCTG	0.647000														38			5		0	0	0.001168	0	0
CCBP2	1238	broad.mit.edu	37	3	42906201	42906201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:42906201G>A	uc003cme.3	+	2	385	c.207G>A	c.(205-207)atG>atA	p.M69I	CCBP2_uc003cmf.3_Missense_Mutation_p.M69I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.M69I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	69					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTCTTCTCATGGTCTTGCTCC	0.532000														99			8		0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	17157512	17157512	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:17157512G>A	uc001ioo.3	-	6	730	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	226					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)	AGATGCCATGGACACAGCGTG	0.542000														37			4		0	0	0.000602	0	0
PNPLA5	150379	broad.mit.edu	37	22	44276713	44276713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:44276713G>A	uc003beg.3	-	8	1385	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S	PNPLA5_uc003beh.3_Missense_Mutation_p.P304S|PNPLA5_uc021wqw.1_Missense_Mutation_p.P418S|PNPLA5_uc021wqx.1_Missense_Mutation_p.P304S|PNPLA5_uc011aqc.2_Missense_Mutation_p.P278S	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	418					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TCTCTATGAGGAGCTATCTGG	0.657000														22			6		0	0	0.001168	0	0
LOC649330	649330	broad.mit.edu	37	1	12907793	12907793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12907793C>T	uc010obf.2	-	1	576	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	LOC649330_uc009vno.2_Missense_Mutation_p.R117Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	117							nucleic acid binding|nucleotide binding										ATAATAATCCCGTTGAAAGCC	0.512000														59			12		0	0	0.010729	0	0
OR2T33	391195	broad.mit.edu	37	1	248436183	248436183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248436183G>A	uc010pzi.2	-	0	934	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATTTTGCTGGTGTTTTATG	0.423000														133			12		0	0	0.001855	0	0
KCNN3	3782	broad.mit.edu	37	1	154685942	154685942	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154685942T>C	uc021pah.1	-	7	2256	c.1942A>G	c.(1942-1944)Aag>Gag	p.K648E	KCNN3_uc001ffo.3_Missense_Mutation_p.K328E|KCNN3_uc001ffp.3_Missense_Mutation_p.K633E	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	638						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CCACTCACCTTGGAAAGGTCC	0.562000														56			5		0	0	0.001984	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960692	33960692	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33960692C>T	uc001bxj.4	+	7	2915	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	ZSCAN20_uc009vui.3_Silent_p.S915S	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	916					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAAGAGCTCCACCCTGGCCA	0.517000														66			10		0	0	0.008291	0	0
C12orf39	80763	broad.mit.edu	37	12	21679878	21679878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21679878G>A	uc001rfa.1	+	1	216	c.65G>A	c.(64-66)gGa>gAa	p.G22E	C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	22						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GTTTTCCTGGGAAACTCCAGC	0.438000														100			13		0	0	0.002450	0	0
RBPMS2	348093	broad.mit.edu	37	15	65043767	65043767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65043767G>A	uc002anq.3	-	1	410	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	53	RRM.						nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CACCTTGAACGGCCGGAAGAG	0.612000														82			7		0	0	0.003080	0	0
NRG3	10718	broad.mit.edu	37	10	84733607	84733607	+	Missense_Mutation	SNP	G	A	A	rs144817913		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:84733607G>A	uc021pvc.1	+	6	1375	c.1348G>A	c.(1348-1350)Ggc>Agc	p.G450S	NRG3_uc010qlz.1_Missense_Mutation_p.G449S|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.G450S|NRG3_uc001kcp.2_Missense_Mutation_p.G229S|NRG3_uc001kcq.2_Missense_Mutation_p.G100S|NRG3_uc021pvd.1_Missense_Mutation_p.G229S|NRG3_uc021pve.1_Missense_Mutation_p.G254S|NRG3_uc021pvf.1_Missense_Mutation_p.G100S|NRG3_uc021pvg.1_Missense_Mutation_p.G254S|NRG3_uc021pvh.1_Missense_Mutation_p.G38S|NRG3_uc021pvi.1_Missense_Mutation_p.G280S|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.G100S|NRG3_uc021pvl.1_Missense_Mutation_p.G100S	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	450					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAGTTTTGTCGGCCCCCAGTC	0.502000														48			7		0	0	0.001984	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345656	135345656	+	Silent	SNP	C	T	T	rs139133362	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:135345656C>T	uc001lnj.1	+	3	549	c.516C>T	c.(514-516)atC>atT	p.I172I	CYP2E1_uc001lnk.1_Silent_p.I35I|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	172					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCTTCCTCATCGGCTGCGCGC	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					53			18		0	0	0.008871	0	0
MYH7B	57644	broad.mit.edu	37	20	33575400	33575400	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:33575400G>A	uc002xbi.2	+	16	1631	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	396	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)			TCAGCAGTGGGGACCTCCTCA	0.632000														101			6		0	0	0.001168	0	0
AMPH	273	broad.mit.edu	37	7	38534086	38534086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38534086C>T	uc003tgu.3	-	3	463	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	AMPH_uc003tgv.3_Missense_Mutation_p.E83K	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	83	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCATAGACTTCATGCAGCGAC	0.532000														128			15		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214426	140214426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140214426C>T	uc003lhq.2	+	0	458	c.458C>T	c.(457-459)cCa>cTa	p.P153L	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_Missense_Mutation_p.P153L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	168	Cadherin 2.				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)			TCTCGGTTTCCACTAGAGGGC	0.557000														30			5		0	0	0.004482	0	0
ABCA12	26154	broad.mit.edu	37	2	215843724	215843724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:215843724G>A	uc002vew.3	-	31	5001	c.4781C>T	c.(4780-4782)gCc>gTc	p.A1594V	ABCA12_uc002vev.3_Missense_Mutation_p.A1276V|ABCA12_uc010zjn.2_Missense_Mutation_p.A521V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1594					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCTGTCACGGCCATGGTGTC	0.443000														20			10		0	0	0.013537	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865929	144865929	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:144865929C>T	uc021ouh.1	-	35	5953	c.5651_splice	c.e35-1	p.G1884_splice	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Splice_Site_p.G1884_splice|PDE4DIP_uc001elx.4_Splice_Site_p.G1778_splice|PDE4DIP_uc001elv.4_Splice_Site_p.G891_splice|PDE4DIP_uc001ema.3_Splice_Site_p.G71_splice	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1884					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGTGGATCCTGTCCCAGA	0.468000			T	PDGFRB	MPD									424			24		0	0	0.005443	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103799	55103799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:55103799C>T	uc002lgo.3	+	0	883	c.851C>T	c.(850-852)cCa>cTa	p.P284L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	284					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CTGGGCACCCCACCTGCGGCC	0.701000														58			5		0	0	0.003080	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841341	27841341	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:27841341C>T	uc001ric.2	+	24	2876	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V	PPFIBP1_uc010sjr.1_Silent_p.V664V|PPFIBP1_uc001rib.2_Silent_p.V827V|PPFIBP1_uc001ria.3_Silent_p.V802V|PPFIBP1_uc001rid.2_Silent_p.V680V|PPFIBP1_uc001rif.2_Silent_p.V340V|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	833	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGTGGTGTCCATGGTGGGC	0.438000														182			37		0	0	0.009718	0	0
TRPM8	79054	broad.mit.edu	37	2	234839312	234839313	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234839312_234839313GG>AA	uc002vvh.3	+	3	158	c.118_splice	c.e3-1	p.D40_splice	TRPM8_uc010fyj.3_Splice_Site|TRPM8_uc002vvi.3_Splice_Site|TRPM8_uc002vvj.3_Splice_Site	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	40						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTCTCCAAAGGACTTGGTGAA	0.347000														40			4		0	0	0.004672	0	0
C1orf51	148523	broad.mit.edu	37	1	150256268	150256268	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150256268G>A	uc001euj.3	+	1	869	c.420G>A	c.(418-420)ctG>ctA	p.L140L	C1orf51_uc001euh.3_Silent_p.L140L|C1orf51_uc001eui.3_Silent_p.L52L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	140										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAATGGGCTGAAGATGGGTC	0.403000														50			8		0	0	0.006214	0	0
SARDH	1757	broad.mit.edu	37	9	136573515	136573515	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:136573515C>T	uc004cep.4	-	10	1498	c.1364G>A	c.(1363-1365)tGg>tAg	p.W455*	SARDH_uc004ceo.3_Nonsense_Mutation_p.W455*|SARDH_uc011mdo.2_Nonsense_Mutation_p.W287*|SARDH_uc011mdn.2_Nonsense_Mutation_p.W455*	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	455					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCTCGGATCCAGCGGGGGTG	0.657000														77			10		0	0	0.002450	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	A	A	rs141559059		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143141184G>A	uc011ktg.2	+	0	639	c.639G>A	c.(637-639)atG>atA	p.M213I	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(4)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000														100			12		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207725	140207726	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140207725_140207726CC>TT	uc003lho.2	+	0	76_77	c.49_50CC>TT	c.(49-51)ccg>TTg	p.P17L	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_uc003lhn.2_Missense_Mutation_p.P17L|PCDHAC2_uc011dab.2_Missense_Mutation_p.P17L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	27					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)			TCTGCTCCTCCCGCTTCTGCTC	0.550000														76			8		0	0	0.004672	0	0
HTR3E	285242	broad.mit.edu	37	3	183823957	183823957	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183823957C>T	uc010hxr.3	+	5	1239	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	HTR3E_uc010hxq.3_Silent_p.L323L|HTR3E_uc003fml.4_Silent_p.L308L|HTR3E_uc003fmm.3_Silent_p.L338L|HTR3E_uc003fmn.3_Silent_p.L323L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	323						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGTGGGCAGCCTGCTGGAGAC	0.637000														47			6		0	0	0.001984	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735191	31735191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:31735191G>A	uc003tcl.3	+	2	517	c.191G>A	c.(190-192)aGg>aAg	p.R64K	PPP1R17_uc011kaf.2_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 17 (PPP1R17), transcript variant 1, mRNA.	64					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AAAAAACCAAGGAGGAAAGAT	0.458000														94			11		0	0	0.010729	0	0
LEO1	123169	broad.mit.edu	37	15	52245340	52245340	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52245340C>T	uc002abo.3	-	7	1477	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	LEO1_uc010bfd.3_Silent_p.T427T	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	487					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGGTGAGTTTCGTTTTAAAGA	0.378000														23			4		0	0	0.000602	0	0
OBSL1	23363	broad.mit.edu	37	2	220430018	220430018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220430018C>T	uc010fwk.3	-	5	2667	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Missense_Mutation_p.E785K|OBSL1_uc002vmi.3_Missense_Mutation_p.E785K	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	785	Ig-like 5.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACTCAAACTCGCCACTGTCC	0.597000											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		17			5		0	0	0.000602	0	0
CCDC144C	348254	broad.mit.edu	37	17	20242862	20242863	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:20242862_20242863CC>TT	uc010cqy.1	+	4		c.951_952CC>TT								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TCCAGTACTTCCTCATGTGCAA	0.371000														53			6		0	0	0.004672	0	0
DOCK3	1795	broad.mit.edu	37	3	51308341	51308341	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51308341G>A	uc011bds.2	+	23	2474	c.2451G>A	c.(2449-2451)ggG>ggA	p.G817G		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	817						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGACACTGGGGAGCATGCCCA	0.527000														55			13		0	0	0.013537	0	0
LILRP2	79166	broad.mit.edu	37	19	55221625	55221625	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55221625C>T	uc002qgs.1	+	0		c.2025C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCCTGAGCATCCTGATCGCAG	0.677000														21			4		0	0	0.001168	0	0
OR7D2	162998	broad.mit.edu	37	19	9296893	9296893	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9296893T>A	uc002mkz.1	+	0	624	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	146					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						CCTCCTGGTTTTTGTCACCTG	0.468000														88			30		0	0	0.013726	0	0
KIAA0564	23078	broad.mit.edu	37	13	42295550	42295550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:42295550G>A	uc001uyj.3	-	24	2990	c.2920C>T	c.(2920-2922)Cct>Tct	p.P974S	KIAA0564_uc001uyk.3_Missense_Mutation_p.P974S	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	974						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GTAGAATAAGGATAGTTAATA	0.433000														116			6		0	0	0.001984	0	0
RBBP4	5928	broad.mit.edu	37	1	33134686	33134686	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33134686C>T	uc001bvr.3	+	5	873	c.714C>T	c.(712-714)ctC>ctT	p.L238L	RBBP4_uc001bvs.3_Silent_p.L237L|RBBP4_uc010ohj.2_5'UTR|RBBP4_uc010ohk.2_Silent_p.L203L	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	238					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGCATCTACTCCATGAGTCTC	0.418000														54			10		0	0	0.013537	0	0
ITPR3	3710	broad.mit.edu	37	6	33641370	33641370	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33641370C>T	uc021ywr.1	+	22	3155	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	977					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTCTCCAGTTCATCCTCAATG	0.557000														162			30		0	0	0.013726	0	0
TCRA	0	broad.mit.edu	37	14	22539240	22539240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22539240C>T	uc001wcy.3	+	1	147	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		CCTGATTCTCCAGGAGGGAGC	0.473000														36			5		0	0	0.001168	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623357	21623357	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:21623357G>A	uc010tlp.2	-	0	828	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCATTTTCAGGATGGTGTTGA	0.473000														17			6		0	0	0.001984	0	0
USP17L2	377630	broad.mit.edu	37	8	11994871	11994871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:11994871G>A	uc003wvc.1	-	0	1399	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	467					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCGATTGATGAATCACAAGT	0.478000														68			12		0	0	0.010729	0	0
LGALS4	3960	broad.mit.edu	37	19	39297114	39297114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39297114G>A	uc002ojg.3	-	3	675	c.461C>T	c.(460-462)cCc>cTc	p.P154L	LGALS4_uc010xuj.2_Missense_Mutation_p.P154L	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	154					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGGCCGGAGGGGCTGGCCTCC	0.478000														105			12		0	0	0.013537	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027564	9027564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:9027564C>T	uc003brf.1	-	21	3615	c.2939G>A	c.(2938-2940)aGg>aAg	p.R980K	SRGAP3_uc003brg.1_Missense_Mutation_p.R956K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	980					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)		CGTGTTCTGCCTCTCGAGTTC	0.647000			T	RAF1	pilocytic astrocytoma									31			4		0	0	0.000602	0	0
SUN1	23353	broad.mit.edu	37	7	893212	893212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:893212C>T	uc021zym.1	+	9	1240	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Missense_Mutation_p.P304L|SUN1_uc003sjf.3_Missense_Mutation_p.P324L|SUN1_uc003sjg.3_Missense_Mutation_p.P312L|SUN1_uc011jvr.2_Missense_Mutation_p.P216L|SUN1_uc003sji.3_Missense_Mutation_p.P245L|SUN1_uc003sjk.3_Missense_Mutation_p.P46L	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	434					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCCGGGCCGTCAGCTTCG	0.652000														31			6		0	0	0.001168	0	0
RP1	6101	broad.mit.edu	37	8	55539308	55539308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:55539308G>A	uc003xsd.1	+	3	3014	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	956					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)			TTCAGGGAATGATCCCCATAC	0.313000														42			6		0	0	0.001168	0	0
CFH	3075	broad.mit.edu	37	1	196695653	196695653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196695653G>A	uc001gtj.4	+	12	2167	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	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.	643	Sushi 11.				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						GAATGTTAAGGAAAAAACGAA	0.343000														26			9		0	0	0.006214	0	0
ATF6	22926	broad.mit.edu	37	1	161928372	161928372	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161928372C>T	uc001gbs.3	+	15	2058	c.1941C>T	c.(1939-1941)acC>acT	p.T647T		NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	647					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AAACCAACACCTTCTTTGGCT	0.517000														110			6		0	0	0.003080	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763633	110763633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:110763633G>A	uc003puf.3	-	3	1064	c.997C>T	c.(997-999)Cct>Tct	p.P333S	SLC22A16_uc003pue.3_Missense_Mutation_p.P314S	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	333					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P333S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTACTAACAGGACCTTGTAGG	0.413000														59			6		0	0	0.001984	0	0
C12orf12	196477	broad.mit.edu	37	12	91348334	91348334	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91348334G>A	uc001tbj.3	-	0	620	c.186C>T	c.(184-186)ccC>ccT	p.P62P		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	62										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCTTCCTTGGGGGCCCATACT	0.662000														16			6		0	0	0.001984	0	0
GYS2	2998	broad.mit.edu	37	12	21727182	21727182	+	Nonsense_Mutation	SNP	G	A	A	rs150382575		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21727182G>A	uc001rfb.3	-	3	829	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	192					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCCTGGCTCGAGAAAGGATC	0.418000														35			5		0	0	0.000602	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569322	11569322	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:11569322G>A	uc002mry.1	-	3	818	c.438C>T	c.(436-438)tcC>tcT	p.S146S	ELAVL3_uc002mrx.1_Silent_p.S146S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	146	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.S146Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCCGTACTGGGAGAAGAGCT	0.622000														63			9		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106405666	106405666	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106405666G>A	uc021ser.1	-	3033		c.50126C>T								Parts of antibodies, mostly variable regions.																		CAGCTGCAGGGAGAACTGGTT	0.493000														64			12		0	0	0.001855	0	0
GBE1	2632	broad.mit.edu	37	3	81635304	81635304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:81635304G>A	uc021xav.1	-	9	1556	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	GBE1_uc021xax.1_Missense_Mutation_p.S384F	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	425					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)		CCCTCCCTGGGAAATTGGAGA	0.403000									Glycogen Storage Disease, type IV					52			14		0	0	0.003163	0	0
FRMD7	90167	broad.mit.edu	37	X	131212787	131212787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:131212787C>T	uc004ewn.3	-	11	1436	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	FRMD7_uc022cdy.1_Missense_Mutation_p.D300N|FRMD7_uc011muy.2_Missense_Mutation_p.D405N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	420					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGACAGGGTCCATATAAATA	0.453000														61			34		0	0	0.003755	0	0
GCOM1	145781	broad.mit.edu	37	15	57925876	57925876	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57925876C>T	uc002aei.3	+	7	1001	c.870C>T	c.(868-870)atC>atT	p.I290I	GCOM1_uc002aej.3_Silent_p.I290I|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.I290I|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.I290I	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	290					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGCAGAGATCAGCCTAGAGG	0.478000														64			9		0	0	0.006214	0	0
PTGFR	5737	broad.mit.edu	37	1	78958515	78958515	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:78958515C>T	uc001din.3	+	1	353	c.87C>T	c.(85-87)tcC>tcT	p.S29S	PTGFR_uc001dim.3_Silent_p.S29S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	29					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S29F(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438000														73			6		0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61847990	61847990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61847990C>T	uc001jky.3	-	28	3793	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ANK3_uc001jkw.3_Missense_Mutation_p.G286E|ANK3_uc009xpa.3_Missense_Mutation_p.G286E|ANK3_uc001jkx.3_Missense_Mutation_p.G330E|ANK3_uc010qih.2_Missense_Mutation_p.G1153E|ANK3_uc001jkz.4_Missense_Mutation_p.G1146E|ANK3_uc001jla.1_Missense_Mutation_p.G218E|ANK3_uc001jlb.1_Missense_Mutation_p.G670E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1152					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						GCTCAGAATTCCACCTTCAGG	0.468000														75			12		0	0	0.001855	0	0
PROZ	8858	broad.mit.edu	37	13	113826022	113826022	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:113826022G>A	uc001vta.1	+	7	813	c.806G>A	c.(805-807)tGg>tAg	p.W269*	PROZ_uc010agr.1_Nonsense_Mutation_p.W291*	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	269	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GAGCTGGAGTGGCCCATCCAG	0.637000														58			7		0	0	0.006214	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2479	2479	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrGL000237.1:2479G>A	uc011mgu.1	-	0		c.208C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ttaccgctccggctgccatct	0.627000														9			3		0	0	0.001168	0	0
HFM1	164045	broad.mit.edu	37	1	91727940	91727940	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:91727940G>A	uc001doa.4	-	37	4195	c.4096C>T	c.(4096-4098)Caa>Taa	p.Q1366*	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Nonsense_Mutation_p.Q1045*|HFM1_uc001dob.4_Nonsense_Mutation_p.Q554*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1366							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCTTTCTTGAAAATGGACC	0.294000														101			14		0	0	0.007413	0	0
LRRC66	339977	broad.mit.edu	37	4	52861909	52861909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:52861909C>T	uc003gzi.3	-	3	1286	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	427						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCCATGTCATCGTAGAAGCCC	0.537000														99			7		0	0	0.003080	0	0
TRPV5	56302	broad.mit.edu	37	7	142605958	142605958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142605958C>T	uc003wby.1	-	14	2176	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	638					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGATTCTGATCATTGTGGTTC	0.517000														38			5		0	0	0.001168	0	0
FAM75A2	642265	broad.mit.edu	37	9	39361018	39361018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39361018G>A	uc004abm.3	+	3	3285	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_001040065	NP_001078921	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	1086						integral to membrane		p.E1086K(1)		lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACTGGTGCACGAGGAGCCCAG	0.542000														169			44		0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3889456	3889456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:3889456G>A	uc022aqr.1	-	3	971	c.581C>T	c.(580-582)tCg>tTg	p.S194L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	194	Sushi 1.					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)		GAAGTCCCACGATGCACCATT	0.542000														18			5		0	0	0.001168	0	0
KANK4	163782	broad.mit.edu	37	1	62739545	62739545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:62739545C>T	uc001dah.4	-	2	1608	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	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.	411								p.T410T(1)		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						ACCATCACGTCCGTCTGGCCC	0.517000														101			14		0	0	0.001855	0	0
OR10G2	26534	broad.mit.edu	37	14	22102706	22102706	+	Missense_Mutation	SNP	G	A	A	rs112202933	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22102706G>A	uc010tmc.2	-	0	293	c.293C>T	c.(292-294)cCg>cTg	p.P98L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCCACCAAACGGGATAGCCTT	0.493000														38			6		0	0	0.001984	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70740419	70740419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:70740419G>A	uc001dex.4	-	10	1704	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ANKRD13C_uc009wbk.3_Missense_Mutation_p.P425S	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	460					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCCTAAGGGAAATTCCTGG	0.383000														141			10		0	0	0.010729	0	0
MARCH10	162333	broad.mit.edu	37	17	60788599	60788599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:60788599C>T	uc010dds.3	-	9	2720	c.2435G>A	c.(2434-2436)aGa>aAa	p.R812K	MARCH10_uc010ddr.3_Missense_Mutation_p.R774K|MARCH10_uc002jag.4_Missense_Mutation_p.R774K|MARCH10_uc002jah.2_Missense_Mutation_p.R773K|BC037347_uc002jaj.1_Intron|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	774							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TACCCTCTCTCTTTCCACCTG	0.527000														71			5		0	0	0.001984	0	0
NLRP13	126204	broad.mit.edu	37	19	56410206	56410206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56410206C>T	uc010ygg.2	-	9	2912	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	963							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)		TCCTGAAGATCATTTTCTCCC	0.463000														54			24		0	0	0.002780	0	0
FER1L6	654463	broad.mit.edu	37	8	124992757	124992757	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:124992757G>A	uc003yqw.3	+	10	1322	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	372						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTCGCCCAGGAACCACAGTC	0.473000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			35		0	0	0.005524	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	T	T	rs140846988	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140207946C>T	uc003lho.2	+	0	297	c.270C>T	c.(268-270)atC>atT	p.I90I	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_uc003lhn.2_Silent_p.I90I|PCDHAC2_uc011dab.2_Silent_p.I90I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	105	Cadherin 1.				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)			ATTCTCGGATCGACCGCGAGG	0.602000														146			23		0	0	0.006320	0	0
PRB3	5544	broad.mit.edu	37	12	11421019	11421019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11421019C>T	uc001qzs.3	-	2	202	c.164G>A	c.(163-165)gGa>gAa	p.G55E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	55	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.G55E(3)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCTGGAGGAGG	0.597000														137			19		0	0	0.012319	0	0
SLC8A1	6546	broad.mit.edu	37	2	40387911	40387911	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:40387911T>C	uc002rrx.3	-	7	2287	c.2263A>G	c.(2263-2265)Agt>Ggt	p.S755G	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.S750G|SLC8A1_uc002rsb.2_Missense_Mutation_p.S747G|SLC8A1_uc002rrz.3_Missense_Mutation_p.S742G|SLC8A1_uc002rsa.3_Missense_Mutation_p.S719G|SLC8A1_uc002rsd.4_Missense_Mutation_p.S719G	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	755					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACCAGCACTGACAGTGATA	0.428000														69			9		0	0	0.008291	0	0
ZNF462	58499	broad.mit.edu	37	9	109688455	109688455	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:109688455C>T	uc004bcz.3	+	2	2551	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.S602S|ZNF462_uc004bda.3_Silent_p.S602S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	754					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCCCACTTCCTTTTCTGCCC	0.493000														33			6		0	0	0.001168	0	0
ZNF607	84775	broad.mit.edu	37	19	38189016	38189017	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38189016_38189017GG>AA	uc002ohc.2	-	4	2611_2612	c.2015_2016CC>TT	c.(2014-2016)ccc>cTT	p.P672L	ZNF607_uc002ohb.2_Missense_Mutation_p.P671L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACATTTAAAGGGTTTCTCACC	0.366000														69			7		0	0	0.004672	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001148	121001148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121001148C>T	uc003eec.4	+	19	2286	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	STXBP5L_uc011bji.2_Intron	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	716					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)		TAACTTTTATCCTGATTTAAC	0.388000														42			6		0	0	0.003080	0	0
CABIN1	23523	broad.mit.edu	37	22	24451467	24451468	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24451467_24451468CC>TT	uc002zzi.1	+	8	1065_1066	c.938_939CC>TT	c.(937-939)tcc>tTT	p.S313F	CABIN1_uc021wnc.1_Missense_Mutation_p.S263F|CABIN1_uc002zzj.1_Missense_Mutation_p.S263F|CABIN1_uc002zzl.2_Missense_Mutation_p.S313F|CABIN1_uc010guk.1_Missense_Mutation_p.S268F|CABIN1_uc002zzk.2_Missense_Mutation_p.S268F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	313					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGAGTCCTCCATGGTGGTGA	0.574000														60			8		0	0	0.004672	0	0
ESRRB	2103	broad.mit.edu	37	14	76967055	76967055	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:76967055C>T	uc001xsr.3	+	10	1889	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	ESRRB_uc001xso.3_Non-coding_Transcript	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCTCTGGCTCACCATGTAAC	0.567000														72			11		0	0	0.013537	0	0
C10orf120	399814	broad.mit.edu	37	10	124459229	124459229	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124459229C>T	uc001lgn.3	-	0	110	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	26										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTTTTCATTCTTCCTTTCTT	0.448000														56			7		0	0	0.001984	0	0
ECM1	1893	broad.mit.edu	37	1	150483433	150483434	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150483433_150483434CC>TT	uc001euv.3	+	5	747_748	c.548_549CC>TT	c.(547-549)tcc>tTT	p.S183F	ECM1_uc010pcf.2_Missense_Mutation_p.S78F|ECM1_uc010pce.2_Missense_Mutation_p.S85F|ECM1_uc001eus.3_Missense_Mutation_p.S156F|ECM1_uc001eut.3_Missense_Mutation_p.S156F|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	156	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGGACCGGTCCCAAGGGGGCT	0.599000														138			17		0	0	0.004672	0	0
THSD7B	80731	broad.mit.edu	37	2	137814260	137814260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:137814260G>A	uc002tva.1	+	1	317	c.317G>A	c.(316-318)gGa>gAa	p.G106E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTCAGCATGGACTGCAGCAC	0.537000														26			6		0	0	0.001168	0	0
PDZD2	23037	broad.mit.edu	37	5	32087283	32087283	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32087283G>A	uc003jhl.3	+	19	4117	c.3729G>A	c.(3727-3729)ggG>ggA	p.G1243G	PDZD2_uc003jhm.3_Silent_p.G1243G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1243					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				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						GGAAGAAGGGGGCCGCTCATC	0.577000														119			8		0	0	0.004482	0	0
GPR98	84059	broad.mit.edu	37	5	89924621	89924621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:89924621G>A	uc003kju.3	+	7	1577	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	494					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	p.R493Q(1)		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)		ACAATACGAGGAGGTGCAGAA	0.428000														16			7		0	0	0.003080	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649655	20649655	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20649655G>A	uc001ytg.3	-	17	2563	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.G618G|HERC2P3_uc010tyy.2_Silent_p.G618G					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.G618G(2)		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						CTCGGCCTAGGCCTGGAGGAG	0.557000														102			11		0	0	0.001855	0	0
ITGAL	3683	broad.mit.edu	37	16	30532878	30532878	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:30532878C>T	uc002dyi.4	+	30	3581	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	ITGAL_uc002dyj.4_Silent_p.I1051I|ITGAL_uc010vev.2_Silent_p.I369I	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.	1135					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			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)	CGAATGGAATCCCTGCAGAAG	0.532000														48			8		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	107178989	107178989	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107178989C>T	uc021ser.1	-	37		c.2349G>A								Parts of antibodies, mostly variable regions.																		CAGGGCCTTCCCTGGGGGCTG	0.532000														65			6		0	0	0.001984	0	0
TSC2	7249	broad.mit.edu	37	16	2130177	2130177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2130177C>T	uc002con.3	+	29	3515	c.3409C>T	c.(3409-3411)Ctt>Ttt	p.L1137F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.L1137F|TSC2_uc002coo.3_Missense_Mutation_p.L1093F|TSC2_uc010uvv.2_Missense_Mutation_p.L1057F|TSC2_uc010uvw.2_Missense_Mutation_p.L1045F|TSC2_uc002cop.3_Missense_Mutation_p.L893F|TSC2_uc002coq.3_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1137					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGGCCATGGTCTTCGAGTTGG	0.627000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					91			34		0	0	0.006230	0	0
VAV1	7409	broad.mit.edu	37	19	6854093	6854093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:6854093G>A	uc002mfu.1	+	25	2565	c.2468G>A	c.(2467-2469)gGg>gAg	p.G823E	VAV1_uc010xjh.1_Missense_Mutation_p.G791E|VAV1_uc010dva.1_Missense_Mutation_p.G801E|VAV1_uc002mfv.1_Missense_Mutation_p.G768E	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	823	SH3 2.				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						TGGTGGCGAGGGGAGATCTAT	0.612000														36			12		0	0	0.001855	0	0
C15orf2	23742	broad.mit.edu	37	15	24921298	24921298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:24921298G>A	uc001ywo.3	+	0	758	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	95					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)		CTGGCCATCAGGAAGACACCC	0.672000														30			5		0	0	0.000602	0	0
DSP	1832	broad.mit.edu	37	6	7585673	7585673	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7585673C>T	uc003mxp.1	+	23	8457	c.8178C>T	c.(8176-8178)ttC>ttT	p.F2726F	DSP_uc003mxq.1_Silent_p.F2127F|DSP_uc021yle.1_Silent_p.F2283F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2726	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCAGCGCTTCCTGGAGTTCC	0.552000														83			6		0	0	0.001168	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911592	38911592	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38911592C>T	uc021uub.1	-	3	547	c.333G>A	c.(331-333)ggG>ggA	p.G111G	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Silent_p.G111G|RASGRP4_uc021uua.1_Silent_p.G111G|RASGRP4_uc021uuc.1_Silent_p.G111G|RASGRP4_uc021uud.1_Silent_p.G111G|RASGRP4_uc021uue.1_Silent_p.G111G|RASGRP4_uc021uuf.1_Silent_p.G111G	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	111	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGGGTGTCCCCTGTGGCCT	0.587000														37			5		0	0	0.001984	0	0
CLRN1	7401	broad.mit.edu	37	3	150690300	150690300	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:150690300A>T	uc021xfs.1	-	0	487	c.196T>A	c.(196-198)Ttc>Atc	p.F66I	CLRN1-AS1_uc011bny.1_Intron|CLRN1-AS1_uc003eyl.2_5'Flank|CLRN1_uc003eyk.1_Missense_Mutation_p.F66I|CLRN1_uc021xft.1_Non-coding_Transcript|CLRN1_uc021xfu.1_Non-coding_Transcript|CLRN1_uc021xfv.1_Missense_Mutation_p.F66I|CLRN1_uc021xfw.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	66					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCCGTGGAAAAGCCCGTAC	0.507000														70			6		0	0	0.001168	0	0
MYO18A	399687	broad.mit.edu	37	17	27419372	27419372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27419372C>T	uc002hdt.1	-	33	5334	c.5176G>A	c.(5176-5178)Gcc>Acc	p.A1726T	MYO18A_uc010wbc.1_Missense_Mutation_p.A1259T|MYO18A_uc002hds.2_Missense_Mutation_p.A1268T|MYO18A_uc010csa.1_Missense_Mutation_p.A1689T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1726T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1726					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGTCTTGGCTTTGGCGATG	0.612000														20			5		0	0	0.001168	0	0
TTI1	9675	broad.mit.edu	37	20	36631066	36631066	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36631066G>A	uc002xhl.3	-	4	2825	c.2616C>T	c.(2614-2616)caC>caT	p.H872H	TTI1_uc002xhm.3_Silent_p.H872H	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	872							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CTGACAACAAGTGGATGCAGC	0.527000														65			15		0	0	0.003163	0	0
ALDOB	229	broad.mit.edu	37	9	104193085	104193085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104193085C>T	uc004bbk.2	-	1	167	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	29					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCCAGGATCCCCTTTCCATTG	0.443000														35			6		0	0	0.008291	0	0
JSRP1	126306	broad.mit.edu	37	19	2252649	2252649	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2252649C>T	uc002lvj.2	-	6	746	c.675G>A	c.(673-675)gaG>gaA	p.E225E		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	225	Arg-rich.					sarcoplasmic reticulum membrane		p.R224Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		TCACACGGTCCTCCCGGACGG	0.677000														71			29		0	0	0.008361	0	0
GABRQ	55879	broad.mit.edu	37	X	151821633	151821633	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151821633C>T	uc004ffp.1	+	8	1808	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	596						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)					GGTTCTCCTTCGATCTCTTTA	0.527000														16			7		0	0	0.001984	0	0
TRPM2	7226	broad.mit.edu	37	21	45810858	45810858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:45810858C>T	uc010gpt.1	+	9	1490	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	TRPM2_uc002zet.1_Missense_Mutation_p.R464C|TRPM2_uc002zeu.1_Missense_Mutation_p.R464C|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R464C|TRPM2_uc002zex.1_Missense_Mutation_p.R250C|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	464						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCATGGAATCGCGTGGACAT	0.577000														61			10		0	0	0.010729	0	0
PCDH15	65217	broad.mit.edu	37	10	55955517	55955517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:55955517C>T	uc010qhy.1	-	11	1641	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	PCDH15_uc010qhq.2_Missense_Mutation_p.G416R|PCDH15_uc010qhr.2_Missense_Mutation_p.G411R|PCDH15_uc021pqv.1_Missense_Mutation_p.G411R|PCDH15_uc021pqw.1_Missense_Mutation_p.G416R|PCDH15_uc010qht.2_Missense_Mutation_p.G411R|PCDH15_uc021pqx.1_Missense_Mutation_p.G411R|PCDH15_uc001jjv.1_Missense_Mutation_p.G389R|PCDH15_uc021pqy.1_Missense_Mutation_p.G411R|PCDH15_uc021pqz.1_Missense_Mutation_p.G389R|PCDH15_uc010qhv.1_Missense_Mutation_p.G411R|PCDH15_uc010qhw.1_Missense_Mutation_p.G374R|PCDH15_uc010qhx.1_Missense_Mutation_p.G411R|PCDH15_uc010qhz.1_Missense_Mutation_p.G411R|PCDH15_uc010qia.1_Missense_Mutation_p.G389R|PCDH15_uc001jju.1_Missense_Mutation_p.G411R|PCDH15_uc010qib.1_Missense_Mutation_p.G389R|PCDH15_uc001jjw.3_Missense_Mutation_p.G411R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	411	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGGTTGCTCCCACTGGGGCA	0.388000										HNSCC(58;0.16)				55			6		0	0	0.001168	0	0
OTOP3	347741	broad.mit.edu	37	17	72943324	72943324	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:72943324C>T	uc010wrr.2	+	5	1374	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	OTOP3_uc010wrq.2_Silent_p.I440I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	458						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGCTGCTCATCCTGCAGCACA	0.627000														16			4		0	0	0.009096	0	0
MC3R	4159	broad.mit.edu	37	20	54824538	54824538	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:54824538T>G	uc002xxb.2	+	0	751	c.639T>G	c.(637-639)ttT>ttG	p.F213L		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	250					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)			TGTTCCTCTTTGCGCGGCTGC	0.572000														42			4		0	0	0.009096	0	0
CHST4	10164	broad.mit.edu	37	16	71571469	71571469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:71571469G>A	uc021tkt.1	+	0	889	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CHST4_uc002fan.3_Missense_Mutation_p.E297K|CHST4_uc002fao.3_Missense_Mutation_p.E297K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	297					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGTGGGATTGGAATTCTTGCC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			5		0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:13923469C>T	uc003jfd.2	-	3	400	c.358G>A	c.(358-360)Gat>Aat	p.D120N	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(2)		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)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome					84			18		0	0	0.004990	0	0
ZNF676	163223	broad.mit.edu	37	19	22363765	22363765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:22363765G>A	uc002nqs.1	-	2	1072	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTTGTAGGGTTTCTCTCCA	0.378000														46			6		0	0	0.001168	0	0
IBTK	25998	broad.mit.edu	37	6	82891638	82891638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:82891638G>A	uc003pjl.1	-	25	4210	c.3683C>T	c.(3682-3684)tCt>tTt	p.S1228F	IBTK_uc011dyu.1_Missense_Mutation_p.S179F|IBTK_uc011dyv.1_Missense_Mutation_p.S1213F|IBTK_uc011dyw.1_Missense_Mutation_p.S1027F|IBTK_uc010kbi.1_Missense_Mutation_p.S922F	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1228					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCTTTAAAAGAAACTTTTTT	0.323000														16			7		0	0	0.001984	0	0
ZNF536	9745	broad.mit.edu	37	19	31038970	31038970	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:31038970A>G	uc002nsu.1	+	3	2582	c.2444A>G	c.(2443-2445)cAa>cGa	p.Q815R	ZNF536_uc010edd.1_Missense_Mutation_p.Q815R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGTCTGGGCAACCCCCAAAT	0.572000														84			9		0	0	0.006214	0	0
PPCS	79717	broad.mit.edu	37	1	42922612	42922612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:42922612C>T	uc001chl.3	+	0	440	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	ZMYND12_uc001chj.3_5'Flank|ZMYND12_uc010ojt.2_5'Flank|PPCS_uc001chk.3_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	126					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.P126L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAATGCACTTCCGGGTTTTGC	0.622000														81			5		0	0	0.000602	0	0
PTPRB	5787	broad.mit.edu	37	12	70953333	70953333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70953333G>A	uc001swb.4	-	15	3880	c.3850C>T	c.(3850-3852)Ccc>Tcc	p.P1284S	PTPRB_uc010sto.2_Missense_Mutation_p.P1194S|PTPRB_uc010stp.2_Missense_Mutation_p.P1194S|PTPRB_uc001swc.4_Missense_Mutation_p.P1502S|PTPRB_uc001swa.4_Missense_Mutation_p.P1414S|PTPRB_uc001swd.4_Missense_Mutation_p.P1501S|PTPRB_uc009zrr.2_Missense_Mutation_p.P1381S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1284	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTCTGGGGGCCCTTTCCAC	0.478000														86			23		0	0	0.014323	0	0
OIT3	170392	broad.mit.edu	37	10	74684185	74684185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:74684185C>T	uc001jte.1	+	6	1368	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	384	ZP.					nuclear envelope	calcium ion binding	p.H384Y(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCCGAAATCATGGGATCTT	0.517000														54			13		0	0	0.013537	0	0
PRDM9	56979	broad.mit.edu	37	5	23526486	23526486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:23526486C>T	uc003jgo.3	+	10	1471	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	430					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.P430H(2)|p.P430P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGAGAATCCCTGCCCAGGG	0.453000										HNSCC(3;0.000094)				45			10		0	0	0.001855	0	0
PEX16	9409	broad.mit.edu	37	11	45932504	45932504	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:45932504G>A	uc001nbt.3	-	9	1209	c.897C>T	c.(895-897)atC>atT	p.I299I	PEX16_uc001nbu.3_Silent_p.I299I	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	299	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GCAGGAAGAGGATCCTGGCCC	0.632000														49			17		0	0	0.008871	0	0
AP1M2	10053	broad.mit.edu	37	19	10694304	10694304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10694304G>A	uc002mpd.3	-	2	329	c.245C>T	c.(244-246)tCc>tTc	p.S82F	AP1M2_uc002mpc.3_Missense_Mutation_p.S82F	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	82					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ATACAGGAAGGAGTACACCAG	0.483000														78			10		0	0	0.008291	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539313	95539313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:95539313C>T	uc003ygo.2	-	7	1230	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	KIAA1429_uc003ygp.3_Missense_Mutation_p.E387K|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	387					RNA splicing|mRNA processing	nucleus		p.T386T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTAAGAGTTCTGTTAACTTC	0.338000														151			13		0	0	0.013537	0	0
INTS3	65123	broad.mit.edu	37	1	153719460	153719460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153719460C>T	uc009wom.3	+	4	567	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	INTS3_uc001fct.3_Missense_Mutation_p.R116C|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	116					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)			TCTGGTGAGTCGTGATGGCAT	0.488000														115			10		0	0	0.008291	0	0
GABBR1	2550	broad.mit.edu	37	6	29591248	29591248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29591248G>A	uc003nmt.4	-	7	1133	c.797C>T	c.(796-798)tCc>tTc	p.S266F	GABBR1_uc003nmp.4_Missense_Mutation_p.S149F|GABBR1_uc003nms.4_Missense_Mutation_p.S149F|GABBR1_uc003nmu.4_Missense_Mutation_p.S204F|GABBR1_uc011dlr.2_Missense_Mutation_p.S89F|GABBR1_uc011dls.1_Missense_Mutation_p.S266F	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	266					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAGCCATAGGAAAGCTGTGG	0.562000														15			3		0	0	0.004672	0	0
CEP104	9731	broad.mit.edu	37	1	3753249	3753249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3753249G>A	uc001aky.2	-	9	1486	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.S376F	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	376						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTAGGGCAGGGACTCTGCCTG	0.552000														22			6		0	0	0.001168	0	0
BAIAP2	10458	broad.mit.edu	37	17	79078372	79078372	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:79078372C>T	uc002jzg.2	+	9	1233	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G	BAIAP2_uc002jyz.4_Silent_p.G375G|BAIAP2_uc002jza.2_Silent_p.G375G|BAIAP2_uc002jzc.2_Silent_p.G376G|BAIAP2_uc002jzb.2_Silent_p.G132G|BAIAP2_uc010wuh.1_Silent_p.G297G|BAIAP2_uc002jzd.2_Silent_p.G375G|BAIAP2_uc002jzf.2_Silent_p.G375G|BAIAP2_uc002jze.2_Silent_p.G408G|BAIAP2_uc002jzh.2_Silent_p.G376G|BAIAP2_uc010wui.2_Silent_p.G238G	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	375	SH3.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding	p.G375G(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCGCAATGGCCGTATGCGGG	0.637000														46			9		0	0	0.001855	0	0
CCDC80	151887	broad.mit.edu	37	3	112358494	112358494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:112358494G>A	uc003dzf.3	-	1	477	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CCDC80_uc011bhv.2_Missense_Mutation_p.R87C|CCDC80_uc003dzg.3_Missense_Mutation_p.R87C|CCDC80_uc003dzh.1_Missense_Mutation_p.R87C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	87										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGTTGGGCGAGCTAGTCTC	0.607000														64			7		0	0	0.001984	0	0
PLCB1	23236	broad.mit.edu	37	20	8862357	8862357	+	Missense_Mutation	SNP	G	A	A	rs145966488		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:8862357G>A	uc002wnb.3	+	31	3515	c.3512G>A	c.(3511-3513)gGa>gAa	p.G1171E	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1171					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCATGAAAGGAAAGATCAGT	0.512000														111			11		0	0	0.008291	0	0
MS4A5	64232	broad.mit.edu	37	11	60198378	60198378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:60198378C>T	uc001npo.3	+	1	349	c.263C>T	c.(262-264)cCa>cTa	p.P88L		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 5 (MS4A5), mRNA.	88						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCAGGATATCCATTCTGGGGC	0.363000														52			12		0	0	0.002450	0	0
MME	4311	broad.mit.edu	37	3	154834733	154834733	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:154834733T>C	uc010hvr.1	+	6	823	c.612T>C	c.(610-612)ttT>ttC	p.F204F	MME_uc003fab.1_Silent_p.F204F|MME_uc003fac.1_Silent_p.F204F|MME_uc003fad.1_Silent_p.F204F|MME_uc003fae.1_Silent_p.F204F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	204					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTAATTTGTTTGTTGGCACTG	0.289000														30			7		0	0	0.001984	0	0
LAIR2	3904	broad.mit.edu	37	19	55019160	55019160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55019160G>A	uc002qgc.3	+	2	247	c.125G>A	c.(124-126)gGg>gAg	p.G42E	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.G42E|LAIR2_uc010erl.3_Missense_Mutation_p.G42E	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	42	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ATCTCCCCGGGGAGCCATGTG	0.552000														86			13		0	0	0.002450	0	0
DHX9	1660	broad.mit.edu	37	1	182856252	182856252	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:182856252C>G	uc001gpr.3	+	27	3671	c.3496C>G	c.(3496-3498)Cga>Gga	p.R1166G	DHX9_uc001gps.3_Missense_Mutation_p.R952G|DHX9_uc001gpt.3_Missense_Mutation_p.R445G|DHX9_uc009wyd.3_Missense_Mutation_p.R131G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1166	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.R1166R(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAAGATGGCCCGATACGACAA	0.483000														107			7		0	0	0.001984	0	0
MYH4	4622	broad.mit.edu	37	17	10355546	10355546	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10355546G>A	uc002gmn.3	-	26	3561	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1150					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						GCCTCTCACTGATCTCCTCCA	0.612000														103			21		0	0	0.003330	0	0
C1orf150	148823	broad.mit.edu	37	1	247737610	247737610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247737610C>T	uc001idf.3	+	4	481	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	112								p.L112P(2)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			AGAATATGCCCTTCTTAGGAC	0.443000														26			10		0	0	0.008291	0	0
PTPRT	11122	broad.mit.edu	37	20	40770594	40770594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:40770594C>T	uc002xkg.3	-	17	2915	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	PTPRT_uc010ggj.3_Missense_Mutation_p.E930K|PTPRT_uc010ggi.3_Missense_Mutation_p.E114K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	911	Tyrosine-protein phosphatase 1.				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)				TTGCGGTTTTCATCCTCCTTG	0.507000														138			10		0	0	0.013537	0	0
OR8J1	219477	broad.mit.edu	37	11	56128604	56128604	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:56128604G>A	uc010rjh.2	+	0	914	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACAGCCTGAGGAATAAGGATG	0.393000														42			6		0	0	0.001168	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170420	207170420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:207170420G>A	uc002vbp.2	+	4	1418	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	390							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTTTGGAAGGAGGAGCAAAT	0.403000														22			7		0	0	0.001984	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806032	97806032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:97806032G>A	uc011bgs.2	+	0	16	c.16G>A	c.(16-18)Gga>Aga	p.G6R		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATATCAGAGGGAAATAAGAC	0.368000														63			8		0	0	0.004482	0	0
NUF2	83540	broad.mit.edu	37	1	163317623	163317623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:163317623C>T	uc001gcq.1	+	11	1319	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	NUF2_uc001gcr.1_Missense_Mutation_p.S340L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	340	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding	p.S340L(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338000														41			4		0	0	0.009096	0	0
PELP1	27043	broad.mit.edu	37	17	4607321	4607321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:4607321G>A	uc002fyi.4	-	0	312	c.86C>T	c.(85-87)tCg>tTg	p.S29L	PELP1_uc010vsf.2_5'UTR	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	29					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						CCGCGGGCCCGAGCTCACTGC	0.701000														20			10		0	0	0.010729	0	0
TEKT5	146279	broad.mit.edu	37	16	10721508	10721508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10721508C>T	uc002czz.1	-	6	1462	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	464					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTCTCCTTGTCGATGCAGAGG	0.667000														56			7		0	0	0.004482	0	0
LMX1A	4009	broad.mit.edu	37	1	165173169	165173169	+	Missense_Mutation	SNP	C	T	T	rs145918505		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:165173169C>T	uc001gcz.2	-	8	1291	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	LMX1A_uc021pdz.1_Missense_Mutation_p.G366E|LMX1A_uc021pdy.1_Missense_Mutation_p.G117E|LMX1A_uc001gcw.2_Missense_Mutation_p.G84E	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	366						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AATGGGGTTTCCCACTCTGGA	0.502000														71			6		0	0	0.001984	0	0
TRIM31	11074	broad.mit.edu	37	6	30078327	30078327	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:30078327C>T	uc003npg.1	-	3	752	c.642G>A	c.(640-642)ggG>ggA	p.G214G	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	214						mitochondrion	ligase activity|zinc ion binding	p.A213T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CATAGTGTTTCCCCGCTTCCG	0.512000														78			22		0	0	0.014323	0	0
KCNA10	3744	broad.mit.edu	37	1	111060470	111060470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:111060470G>A	uc001dzt.1	-	0	1328	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	314						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCAAAGTAGGGGATAATGGAG	0.532000														70			13		0	0	0.001855	0	0
SSPO	23145	broad.mit.edu	37	7	149488614	149488614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:149488614C>T	uc010lpk.3	+	33	5056	c.5056C>T	c.(5056-5058)Cca>Tca	p.P1686S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1689	LDL-receptor class A 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCCCTCCCCAGAAGAGCA	0.721000														7			4		0	0	0.001984	0	0
PRKG1	5592	broad.mit.edu	37	10	54040623	54040623	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:54040623A>T	uc001jjm.3	+	12	1661	c.1433A>T	c.(1432-1434)aAa>aTa	p.K478I	PRKG1_uc001jjo.3_Missense_Mutation_p.K493I|PRKG1_uc009xow.2_Missense_Mutation_p.K196I|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	478	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTGCATTCCAAAGGAATCATT	0.433000														59			6		0	0	0.001168	0	0
USP31	57478	broad.mit.edu	37	16	23096193	23096193	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:23096193G>A	uc002dll.3	-	10	1818	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	USP31_uc010bxm.3_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	606					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTCCTCTTTGGTGTACAGTT	0.512000														196			22		0	0	0.012319	0	0
HPS1	3257	broad.mit.edu	37	10	100179853	100179853	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:100179853G>A	uc021pwv.1	-	17	2052	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F		NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	602					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCCCTCCTGGAACAGCAGCG	0.592000									Hermansky-Pudlak syndrome					109			13		0	0	0.001855	0	0
MYO1D	4642	broad.mit.edu	37	17	30932226	30932226	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:30932226G>A	uc002hho.1	-	20	2755	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	MYO1D_uc002hhp.1_Nonsense_Mutation_p.Q915*	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	915						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)			ACTACAAGTTGGTCCTTTCCA	0.393000														23			5		0	0	0.000602	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361630	99361630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99361630C>T	uc003urv.2	-	9	981	c.874G>A	c.(874-876)Gat>Aat	p.D292N	CYP3A4_uc003urw.2_Missense_Mutation_p.D291N|CYP3A4_uc011kiz.2_Missense_Mutation_p.D251N	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	292					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	p.S291S(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCTCCAGATCGGACAGAGCT	0.428000														30			5		0	0	0.001168	0	0
CECR6	27439	broad.mit.edu	37	22	17601081	17601081	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:17601081A>C	uc002zmb.2	-	0	1133	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V	CECR6_uc002zma.2_Intron|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	313	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGGTAGGCGAAGGCGAACTCG	0.736000														51			6		0	0	0.001168	0	0
TECPR2	9895	broad.mit.edu	37	14	102916011	102916011	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:102916011C>T	uc001ylw.2	+	13	3347	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	TECPR2_uc010awl.3_Nonsense_Mutation_p.Q1041*|TECPR2_uc010txx.2_Nonsense_Mutation_p.Q204*	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	1041							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAGCTTATTTCAGACGATAAT	0.537000														110			22		0	0	0.004656	0	0
TMEM178	130733	broad.mit.edu	37	2	39944332	39944332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:39944332C>T	uc002rrt.3	+	3	915	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	TMEM178_uc021vgg.1_Missense_Mutation_p.P97S|TMEM178_uc010fam.2_Missense_Mutation_p.P233S	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	279						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				CATCGCTTATCCGTTTATTAG	0.537000														66			10		0	0	0.006214	0	0
SPTA1	6708	broad.mit.edu	37	1	158624529	158624530	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158624529_158624530CC>TT	uc001fst.1	-	20	3106_3107	c.2907_2908GG>AA	c.(2905-2910)caggct>caAAct	p.A970T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	970			A -> D (in dbSNP:rs35948326).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A970P(2)		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)					ACTGGTGCAGCCTGTTGTTGCT	0.515000														35			6		0	0	0.004672	0	0
SMARCA2	6595	broad.mit.edu	37	9	2076262	2076262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:2076262G>A	uc003zhc.3	+	12	2068	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	SMARCA2_uc003zhd.3_Missense_Mutation_p.E657K|SMARCA2_uc010mha.3_Missense_Mutation_p.E648K	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	657					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGGAAACCGAAGAGAAAAT	0.378000														55			5		0	0	0.003080	0	0
MCF2L2	23101	broad.mit.edu	37	3	183041031	183041031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183041031G>A	uc003fli.1	-	5	685	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	MCF2L2_uc003flj.1_Missense_Mutation_p.H199Y|MCF2L2_uc003flp.1_Missense_Mutation_p.H234Y	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	199					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACAGTGCGGTGATTTACCCAC	0.512000														58			11		0	0	0.002450	0	0
NID2	22795	broad.mit.edu	37	14	52478331	52478331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:52478331C>T	uc001wzo.3	-	16	3725	c.3491G>A	c.(3490-3492)cGg>cAg	p.R1164Q	NID2_uc010tqs.2_Missense_Mutation_p.R1116Q|NID2_uc010tqt.1_Missense_Mutation_p.R1164Q	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1164						basement membrane	calcium ion binding|collagen binding	p.R1164R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCTGATTGTCCGTCCAGCAAC	0.488000														65			12		0	0	0.010729	0	0
ERBB4	2066	broad.mit.edu	37	2	212488669	212488669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:212488669C>T	uc002veg.1	-	17	2278	c.2180G>A	c.(2179-2181)gGt>gAt	p.G727D	ERBB4_uc002veh.1_Missense_Mutation_p.G727D|ERBB4_uc010zji.1_Missense_Mutation_p.G717D|ERBB4_uc010zjj.1_Missense_Mutation_p.G717D|ERBB4_uc010fut.1_Missense_Mutation_p.G727D	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.	727	Protein kinase.				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)		TCCAAAAGCACCTGAGCCAAG	0.373000										TSP Lung(8;0.080)				41			5		0	0	0.001168	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879386	144879386	+	Missense_Mutation	SNP	C	T	T	rs151134727	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:144879386C>T	uc021ouh.1	-	26	4366	c.4064G>A	c.(4063-4065)cGa>cAa	p.R1355Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R1355Q|PDE4DIP_uc001elx.4_Missense_Mutation_p.R1311Q|PDE4DIP_uc001elv.4_Missense_Mutation_p.R362Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1355					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R1355*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATGTCCTTTCGTAGGACCAA	0.493000			T	PDGFRB	MPD									339			19		0	0	0.010504	0	0
ST18	9705	broad.mit.edu	37	8	53071633	53071633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:53071633C>T	uc003xqz.2	-	9	1787	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	ST18_uc011ldq.1_Missense_Mutation_p.R191Q|ST18_uc011ldr.1_Missense_Mutation_p.R509Q|ST18_uc011lds.1_Missense_Mutation_p.R449Q|ST18_uc003xra.2_Missense_Mutation_p.R544Q|ST18_uc003xrb.2_Missense_Mutation_p.R544Q	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	544						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R544*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTAGGCAGTCGATTAGGAAA	0.463000														77			10		0	0	0.010729	0	0
CFH	3075	broad.mit.edu	37	1	196648818	196648818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196648818G>A	uc001gtj.4	+	5	925	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CFH_uc001gti.4_Missense_Mutation_p.E229K|CFH_uc009wyw.3_Missense_Mutation_p.E229K|CFH_uc009wyx.3_Missense_Mutation_p.E165K	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	229	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATTTATAAGGAGAATGAACG	0.333000														31			8		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710787	140710787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140710787C>T	uc003lji.2	+	0	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PCDHGC5_uc011dan.2_Missense_Mutation_p.S179F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	179	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)			CCTCATTTCTCCCTGGATGTG	0.527000														56			8		0	0	0.004482	0	0
ETV3	2117	broad.mit.edu	37	1	157105324	157105325	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:157105324_157105325GG>AA	uc001fqr.2	-	2	511_512	c.222_223CC>TT	c.(220-225)cgcctc>cgTTtc	p.L75F	ETV3_uc001fqt.3_Missense_Mutation_p.L75F	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA.	75							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCCCCAGAGGCGGGCCACCT	0.540000														36			7		0	0	0.004672	0	0
A2M	2	broad.mit.edu	37	12	9243046	9243046	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:9243046G>A	uc001qvk.1	-	19	2615	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	A2M_uc009zgk.1_Silent_p.F684F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	834					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGCTAGGAAGGCGGGAG	0.532000														84			7		0	0	0.001984	0	0
MYO5B	4645	broad.mit.edu	37	18	47563245	47563245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47563245C>T	uc002leb.2	-	3	718	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	MYO5B_uc021ukb.1_Missense_Mutation_p.E143K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	144	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAGGCTTCTTCTGCCACAGCA	0.493000														44			5		0	0	0.001984	0	0
C12orf59	120939	broad.mit.edu	37	12	10339110	10339110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:10339110G>A	uc001qxr.3	+	3	846	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	C12orf59_uc001qxq.3_Missense_Mutation_p.E57K			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	77						integral to membrane				large_intestine(4)|lung(4)|ovary(1)	9						GCAAAATGGGGAAGATGGGGG	0.547000														72			8		0	0	0.004482	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145763161	145763161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:145763161G>A	uc003zds.1	-	7	3113	c.2558C>T	c.(2557-2559)aCt>aTt	p.T853I	ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zdt.1_Intron	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTTCTTCTTAGTGTTTCTTTC	0.552000														63			6		0	0	0.003080	0	0
TMEM150C	441027	broad.mit.edu	37	4	83417287	83417287	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:83417287C>T	uc011ccj.1	-	5	502	c.387G>A	c.(385-387)ctG>ctA	p.L129L	TMEM150C_uc003hmy.1_Silent_p.L99L	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	99						integral to membrane				ovary(1)	1						CACTAATATTCAGCCACGGGT	0.423000														44			5		0	0	0.000602	0	0
HIF1AN	55662	broad.mit.edu	37	10	102304787	102304788	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102304787_102304788CC>TT	uc001krj.4	+	3	732_733	c.657_658CC>TT	c.(655-660)ttccct>ttTTct	p.P220S		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit inhibitor (HIF1AN), mRNA.	220	Interaction with HIF1A.|Interaction with VHL.|JmjC.				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|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCTTATTCCCTCCGGATCA	0.455000														56			5		0	0	0.004672	0	0
PREX1	57580	broad.mit.edu	37	20	47274764	47274764	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47274764G>A	uc002xtw.1	-	16	1907	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	628	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTGGGGCAGGATCTGGGGGC	0.662000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			12		0	0	0.010729	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858356	9858356	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858356C>T	uc010uym.2	-	13	3355	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	GRIN2A_uc002czo.4_Silent_p.K1015K|GRIN2A_uc010uyn.2_Silent_p.K858K|GRIN2A_uc002czr.4_Silent_p.K1015K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1015					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|zinc ion binding	p.W1014L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGGATTTCTTCCACAGCT	0.532000														83			5		0	0	0.000602	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885068	2885069	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:2885068_2885069CC>TT	uc002kln.3	+	2	523_524	c.364_365CC>TT	c.(364-366)ccc>TTc	p.P122F		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	122					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGAAGGTCCCAAAGACCCC	0.510000														40			5		0	0	0.004672	0	0
ITLN1	55600	broad.mit.edu	37	1	160846564	160846564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160846564G>A	uc001fxc.3	-	7	948	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	278					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCACACTGCTGGGGACTGGCC	0.498000														78			5		0	0	0.001984	0	0
C5	727	broad.mit.edu	37	9	123725049	123725049	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:123725049G>A	uc004bkv.3	-	35	4434	c.4404C>T	c.(4402-4404)ccC>ccT	p.P1468P		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1468					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATCACTGGAGGGAATCTGTT	0.348000														49			12		0	0	0.013537	0	0
VWA5A	4013	broad.mit.edu	37	11	124007759	124007759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124007759C>T	uc001pzu.3	+	14	1872	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	VWA5A_uc001pzt.3_Nonsense_Mutation_p.Q555*	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	555										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCCTTGCTCCAGACCAAGGA	0.453000														44			8		0	0	0.006214	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290960	141290960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:141290960C>T	uc022cfj.1	-	0	814	c.814G>A	c.(814-816)Gag>Aag	p.E272K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E272K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	272	MAGE.					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)					GTGAGGAGCTCCCTAGGCTCC	0.542000										HNSCC(46;0.14)				33			14		0	0	0.001855	0	0
SLC35B4	84912	broad.mit.edu	37	7	133994124	133994124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:133994124G>A	uc003vrn.3	-	1	509	c.185C>T	c.(184-186)cCa>cTa	p.P62L	SLC35B4_uc010lmk.3_5'UTR|SLC35B4_uc003vro.4_Missense_Mutation_p.P62L	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	62						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ATACCTTATTGGGATAGCTGG	0.378000														7			4		0	0	0.009096	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:39307287G>A	uc021wwc.1	-	1	850	c.810C>T	c.(808-810)atC>atT	p.I270I	CX3CR1_uc021wwa.1_Silent_p.I238I|CX3CR1_uc021wwb.1_Silent_p.I238I|CX3CR1_uc003cjl.3_Silent_p.I238I|CX3CR1_uc021wwd.1_Silent_p.I238I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000														59			21		0	0	0.008871	0	0
SNAPC4	6621	broad.mit.edu	37	9	139286445	139286445	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139286445G>A	uc004chh.3	-	8	933	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	308	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGCAGCCGCGATCGCCTGCA	0.657000														64			8		0	0	0.003080	0	0
FBXW10	10517	broad.mit.edu	37	17	18675803	18675803	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:18675803G>A	uc002gul.3	+	10	2404	c.2172G>A	c.(2170-2172)acG>acA	p.T724T	FBXW10_uc002guj.3_Silent_p.T695T|FBXW10_uc002guk.3_Silent_p.T695T|FBXW10_uc010cqh.2_Silent_p.T642T	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						Tggaaaaaacgaaacaaaaga	0.408000														107			21		0	0	0.012319	0	0
HUNK	30811	broad.mit.edu	37	21	33371035	33371035	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33371035C>T	uc002yph.3	+	10	2043	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	561					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						TGGTGCGCTCCTTCGAGTCTG	0.592000														25			4		0	0	0.009096	0	0
ZNF658	26149	broad.mit.edu	37	9	40772600	40772600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:40772600G>A	uc004abs.2	-	4	2827	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.S892F	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGATGTCTTGGAGAAAGTCTT	0.448000														99			7		0	0	0.003080	0	0
MLL2	8085	broad.mit.edu	37	12	49445952	49445952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:49445952G>A	uc001rta.4	-	9	1514	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	505	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.S504fs*5(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTCAGGTGGGGGAGACAGAGG	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				45			16		0	0	0.003163	0	0
DCST1	149095	broad.mit.edu	37	1	155011906	155011906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155011906C>T	uc001fgn.2	+	4	404	c.290C>T	c.(289-291)tCc>tTc	p.S97F	DCST1_uc010per.2_Missense_Mutation_p.S122F|DCST1_uc010pes.2_Missense_Mutation_p.S72F	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	97						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGGGGACCTCCCCTCACATC	0.607000														73			26		0	0	0.006320	0	0
DSP	1832	broad.mit.edu	37	6	7580518	7580518	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7580518G>A	uc003mxp.1	+	22	4374	c.4095G>A	c.(4093-4095)caG>caA	p.Q1365Q	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1365	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAAAAATCAGTTTGAGACCG	0.458000														29			4		0	0	0.009096	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280585	122280585	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:122280585C>T	uc001lev.1	+	4	775	c.423C>T	c.(421-423)agC>agT	p.S141S	PPAPDC1A_uc010qtd.2_Silent_p.S141S|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Silent_p.S20S	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	141					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCGCAAAAGCTTCCCCAGCA	0.522000														27			5		0	0	0.000602	0	0
CACNG6	59285	broad.mit.edu	37	19	54515331	54515331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54515331G>A	uc002qct.3	+	3	1261	c.671G>A	c.(670-672)gGc>gAc	p.G224D	CACNG6_uc002qcu.3_Missense_Mutation_p.G178D|CACNG6_uc002qcv.3_Missense_Mutation_p.G153D	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	224						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.C223C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGGGCTGCGGCGTGGGGGCC	0.706000														28			14		0	0	0.001855	0	0
FIBP	9158	broad.mit.edu	37	11	65653047	65653047	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:65653047G>A	uc001ogd.3	-	4	721	c.600C>T	c.(598-600)gcC>gcT	p.A200A	FIBP_uc001oge.3_Silent_p.A200A	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	200					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CAGCGCAGAAGGCAAAGTCAC	0.562000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			19		0	0	0.006122	0	0
DMBT1	1755	broad.mit.edu	37	10	124358543	124358543	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124358543G>A	uc001lgk.1	+	25	3316	c.3210G>A	c.(3208-3210)tgG>tgA	p.W1070*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.W1060*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.W571*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.W1070*|DMBT1_uc021qag.1_Nonsense_Mutation_p.W1060*|DMBT1_uc021qah.1_Nonsense_Mutation_p.W571*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W1070*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.W31*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1070	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTACCTGTGGAGCTGCCCCC	0.587000														80			7		0	0	0.001984	0	0
DICER1	23405	broad.mit.edu	37	14	95590606	95590606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95590606G>A	uc001ydw.2	-	8	1515	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	DICER1_uc021sbc.1_Missense_Mutation_p.P435S|DICER1_uc001ydv.2_Missense_Mutation_p.P425S|DICER1_uc001ydx.2_Missense_Mutation_p.P435S	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	435	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGGAGAAGGAAAATTTGTC	0.343000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					39			11		0	0	0.008291	0	0
E2F3	1871	broad.mit.edu	37	6	20490568	20490568	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:20490568C>T	uc003nda.2	+	6	1632	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	E2F3_uc021ymj.1_Silent_p.L304L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	435	Retinoblastoma protein binding (Potential).|Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGGACTATCTCCTGAGCCTCG	0.512000														404			39		0	0	0.008740	0	0
OR4B1	119765	broad.mit.edu	37	11	48238598	48238598	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:48238598C>T	uc010rhs.2	+	0	237	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	79					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						CCCCTAAATTCATCATAGACT	0.448000														110			10		0	0	0.006214	0	0
DSCAM	1826	broad.mit.edu	37	21	41459205	41459205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:41459205C>T	uc002yyq.1	-	21	4312	c.3860G>A	c.(3859-3861)cGa>cAa	p.R1287Q	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.	1287	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCAGGATTCGTGCAGGAGC	0.483000														79			6		0	0	0.001984	0	0
SEMA4D	10507	broad.mit.edu	37	9	91978697	91978697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:91978697C>T	uc011ltm.1	-	18	2623	c.2051G>A	c.(2050-2052)gGg>gAg	p.G684E	SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aql.2_Non-coding_Transcript|SEMA4D_uc004aqm.2_Non-coding_Transcript	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 2, mRNA.	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AGTCTTGTTCCCTGCTGAGGA	0.527000														21			3		0	0	0.009096	0	0
EFHC2	80258	broad.mit.edu	37	X	44120372	44120372	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:44120372C>T	uc004dgb.4	-	3	644	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	185							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CTGGGGGATTCACTTTGACCC	0.403000														40			7		0	0	0.004482	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793365	37793365	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:37793365C>T	uc011lbj.1	-	6	886	c.786G>A	c.(784-786)gtG>gtA	p.V262V		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	262					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CTGCCACCACCACTAGCATCC	0.597000														52			6		0	0	0.003080	0	0
TAF4	6874	broad.mit.edu	37	20	60582625	60582625	+	Missense_Mutation	SNP	G	A	A	rs6089604		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:60582625G>A	uc002ybs.3	-	5	1952	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	651	TAFH.		P -> L (in dbSNP:rs6089604).		interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACAAGGTAAGGTTGAGGTGA	0.478000														106			10		0	0	0.008291	0	0
MYH1	4619	broad.mit.edu	37	17	10400471	10400471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10400471C>T	uc002gmo.3	-	32	4665	c.4571G>A	c.(4570-4572)gGa>gAa	p.G1524E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1524						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGCGCTTTCCTCCTTCTGC	0.368000														30			4		0	0	0.000602	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798741	96798741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96798741G>A	uc001kkb.3	-	7	1299	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	CYP2C8_uc010qoa.2_Missense_Mutation_p.P332S|CYP2C8_uc010qoc.2_Missense_Mutation_p.P300S|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.P316S|CYP2C8_uc021pwl.1_Missense_Mutation_p.P332S|CYP2C8_uc010qod.1_3'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	402					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTGGATTAGGAAATTCTTTG	0.373000														38			6		0	0	0.001168	0	0
C20orf194	25943	broad.mit.edu	37	20	3278795	3278795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:3278795G>A	uc002wii.2	-	21	1861	c.1810C>T	c.(1810-1812)Ctc>Ttc	p.L604F	C20orf194_uc002wij.3_Missense_Mutation_p.L343F|C20orf194_uc002wik.2_Missense_Mutation_p.L278F	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	604										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAGTCTATGAGAAGAGCAGCA	0.438000														35			4		0	0	0.009096	0	0
SIN3B	23309	broad.mit.edu	37	19	16974544	16974544	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16974544C>T	uc002ney.2	+	10	1439	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	SIN3B_uc002nez.2_Silent_p.F440F|SIN3B_uc010xpi.1_Silent_p.F30F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	472	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACTCCACGTTCGTCAGCTCCA	0.612000														39			7		0	0	0.001984	0	0
ZNF638	27332	broad.mit.edu	37	2	71576268	71576268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:71576268C>T	uc002shx.3	+	1	507	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	ZNF638_uc010fec.2_Nonsense_Mutation_p.Q168*|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Nonsense_Mutation_p.Q62*|ZNF638_uc002shz.3_Nonsense_Mutation_p.Q62*|ZNF638_uc002shy.3_Nonsense_Mutation_p.Q62*|ZNF638_uc002sia.3_Nonsense_Mutation_p.Q62*|ZNF638_uc002sib.1_Nonsense_Mutation_p.Q62*	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	62					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAATCTTATCAGAACATGGG	0.443000														41			8		0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76939723	76939723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:76939723G>A	uc004ecp.4	-	8	1257	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ATRX_uc004ecq.4_Missense_Mutation_p.S304F|ATRX_uc004eco.4_Missense_Mutation_p.S127F|ATRX_uc004ecr.2_Missense_Mutation_p.S303F|ATRX_uc010nlx.1_Missense_Mutation_p.S342F|ATRX_uc010nly.1_Missense_Mutation_p.S287F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	342					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCGGAATAAGAGTAGGTTAC	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							23			17		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179408644	179408644	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179408644T>A	uc021vsy.1	-	294	88748	c.88523A>T	c.(88522-88524)aAt>aTt	p.N29508I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N23203I|TTN_uc021vta.1_Missense_Mutation_p.N23136I|TTN_uc021vtb.1_Missense_Mutation_p.N23011I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30435	Fibronectin type-III 115.						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)			ATCGTACCGATTAACTTTGTC	0.423000														64			18		0	0	0.004990	0	0
OR2L3	391192	broad.mit.edu	37	1	248224163	248224163	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248224163C>T	uc001idx.1	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			CCATGTATTTCCTACTTAGTC	0.403000														300			21		0	0	0.003330	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636043	111636044	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111636043_111636044TC>GT	uc001plw.1	-	1	263_264	c.179_180GA>AC	c.(178-180)cga>cAC	p.R60H	PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc001plx.1_Missense_Mutation_p.R60H|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R60H|PPP2R1B_uc010rwl.1_Missense_Mutation_p.R60H|PPP2R1B_uc010rwj.1_5'UTR	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	60							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACAATTCACTTCGGGTCCTTTC	0.366000														62			13		0	0	0.004672	0	0
OR2A5	393046	broad.mit.edu	37	7	143748174	143748174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143748174G>A	uc011ktw.2	+	0	680	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	227				R -> G (in Ref. 3; AAC39630 and 4; AAK95080).	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)					GCCATCTTGAGGATCCAGTCT	0.592000														94			10		0	0	0.010729	0	0
KRT71	112802	broad.mit.edu	37	12	52943997	52943997	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52943997G>A	uc001sao.3	-	1	542	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	158	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTGGTCTCCAGTACCTGGTTC	0.562000														52			11		0	0	0.010729	0	0
PCK1	5105	broad.mit.edu	37	20	56139563	56139563	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:56139563G>A	uc002xyn.4	+	7	1375	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	PCK1_uc010zzm.2_Silent_p.S87S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	404	Substrate binding.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCCCAACTCGAGGTTCTGCA	0.587000														66			15		0	0	0.004990	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919715	142919715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142919715G>A	uc011ksx.2	+	0	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	182					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T181T(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CAACTCCACGGAGAAGAAGTA	0.458000														118			8		0	0	0.003080	0	0
TREH	11181	broad.mit.edu	37	11	118533871	118533871	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118533871C>T	uc001pty.1	-	2	270	c.225G>A	c.(223-225)agG>agA	p.R75R	TREH_uc009zaj.1_Silent_p.R75R|TREH_uc001ptz.1_5'UTR|TREH_uc009zak.3_Silent_p.R75R	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	75					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GATTGTGGTCCCTGGACAGCT	0.617000														15			4		0	0	0.009096	0	0
LRRC49	54839	broad.mit.edu	37	15	71341895	71341895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:71341895C>T	uc010ukf.2	+	15	2326	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	LRRC49_uc002asu.3_Missense_Mutation_p.R659C|LRRC49_uc002asx.3_Missense_Mutation_p.R625C|LRRC49_uc002asw.3_Missense_Mutation_p.R669C|LRRC49_uc002asy.3_Missense_Mutation_p.R375C|LRRC49_uc002asz.3_Missense_Mutation_p.R641C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	669						cytoplasm|microtubule		p.S673F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CATAGAAATTCGCAATAAAAA	0.368000														102			20		0	0	0.010504	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731977	96731977	+	Silent	SNP	C	T	T	rs9332173		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96731977C>T	uc001kka.4	+	5	961	c.936C>T	c.(934-936)ctC>ctT	p.L312L	CYP2C9_uc009xut.3_Silent_p.L310L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	312					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.L312H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTCTCCTTCTCCTGCTGAAGC	0.433000														69			12		0	0	0.001855	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:72190946G>A	uc002atl.4	-	24	4371	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_uc010biq.3_Missense_Mutation_p.P920S|MYO9A_uc002atn.1_Missense_Mutation_p.P1281S|MYO9A_uc002atk.3_Missense_Mutation_p.P24S|MYO9A_uc002atm.1_Missense_Mutation_p.P24S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1300	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						TCCTCTGAAGGAGAAATACCA	0.468000														65			5		0	0	0.000602	0	0
RIPK4	54101	broad.mit.edu	37	21	43161260	43161260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:43161260G>A	uc002yzn.1	-	7	2141	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	698						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.L697L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGTCCCCGGGCCAGCACATC	0.662000														54			15		0	0	0.004007	0	0
ECHDC3	79746	broad.mit.edu	37	10	11805377	11805377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:11805377C>T	uc001ikw.4	+	4	966	c.746C>T	c.(745-747)tCc>tTc	p.S249F	ECHDC3_uc009xix.3_Missense_Mutation_p.S118F	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA.	249						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCGGTGGTGTCCCTGGGCAAA	0.647000														37			6		0	0	0.001984	0	0
RP1L1	94137	broad.mit.edu	37	8	10467483	10467483	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:10467483C>T	uc003wtc.3	-	3	4354	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1375					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)		CTTTAACTTCCTCTAACTGCA	0.512000														142			46		0	0	0.013114	0	0
DRD1	1812	broad.mit.edu	37	5	174868801	174868801	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:174868801C>T	uc003mcz.3	-	1	2247	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K	DRD1_uc021yia.1_Silent_p.K434K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	434					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGGGTTGGATCTTCTCCAGAG	0.527000														89			13		0	0	0.003163	0	0
CENPE	1062	broad.mit.edu	37	4	104066729	104066729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104066729G>A	uc003hxb.1	-	30	4613	c.4523C>T	c.(4522-4524)tCa>tTa	p.S1508L	CENPE_uc003hxc.1_Missense_Mutation_p.S1483L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1508					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAATGGTTGATATTTCAGT	0.368000														62			12		0	0	0.001855	0	0
TMEM196	256130	broad.mit.edu	37	7	19765251	19765251	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:19765251G>A	uc011jyg.2	-	2	430	c.345C>T	c.(343-345)atC>atT	p.I115I	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	121						integral to membrane		p.I115I(1)|p.I47I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGCAGCCCCCGATCCCAATGC	0.532000														44			10		0	0	0.010729	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514572	161514572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161514572C>T	uc001gar.3	-	3	788	c.604G>A	c.(604-606)Gac>Aac	p.D202N	FCGR3A_uc001gas.3_Missense_Mutation_p.D201N|FCGR3A_uc001gat.4_Missense_Mutation_p.D166N|FCGR3A_uc009wuh.3_Missense_Mutation_p.D165N|FCGR3A_uc009wui.3_Missense_Mutation_p.D166N	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	166					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			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)	GAGCCGCTGTCTTTGAGTGTG	0.443000														51			6		0	0	0.001984	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798068	31798068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:31798068C>T	uc002yob.1	-	0	163	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	55	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TCCTGACAGCCCCTATAGAGA	0.602000														42			6		0	0	0.001168	0	0
C15orf33	196951	broad.mit.edu	37	15	49867222	49867222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:49867222G>A	uc001zxl.2	-	7	925	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	C15orf33_uc001zxm.3_Missense_Mutation_p.L211F	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	211										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		AATTTATGGAGAAACCACCAC	0.289000														49			10		0	0	0.008291	0	0
E2F1	1869	broad.mit.edu	37	20	32268192	32268192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:32268192G>A	uc002wzu.4	-	1	432	c.292C>T	c.(292-294)Cat>Tat	p.H98Y		NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	98	Cyclin A/CDK2 binding.			KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150).	G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGTACTGATGGTCAGTTTCC	0.617000														41			6		0	0	0.003080	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894821	48894821	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:48894821G>A	uc003gyt.3	-	5	554	c.351C>T	c.(349-351)ctC>ctT	p.L117L	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	117	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CAGCCCCACGGAGCTGATCTT	0.383000														143			16		0	0	0.008871	0	0
SMR3A	26952	broad.mit.edu	37	4	71232569	71232569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:71232569G>A	uc003hfg.1	+	2	344	c.263G>A	c.(262-264)aGa>aAa	p.R88K	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	88	Pro-rich.					extracellular region		p.R88I(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGAATTCAATCA	0.552000														63			32		0	0	0.013726	0	0
OASL	8638	broad.mit.edu	37	12	121465506	121465506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121465506C>T	uc001tzj.1	-	3	778	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	258					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAAGCCTTCGTCCAACATG	0.478000														369			58		0	0	0.014410	0	0
LRRC30	339291	broad.mit.edu	37	18	7231694	7231694	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:7231694G>A	uc010wzk.2	+	0	558	c.558G>A	c.(556-558)aaG>aaA	p.K186K		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	186										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCTCCCTGAAGGAACTGATTT	0.552000														64			5		0	0	0.001168	0	0
ODZ1	10178	broad.mit.edu	37	X	123518361	123518361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:123518361C>T	uc010nqy.3	-	29	6484	c.6420G>A	c.(6418-6420)atG>atA	p.M2140I	ODZ1_uc011muj.2_Missense_Mutation_p.M2139I|ODZ1_uc004euj.3_Missense_Mutation_p.M2133I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2133					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CACATATTACCATGCGGCCCA	0.393000														38			16		0	0	0.006122	0	0
SPTA1	6708	broad.mit.edu	37	1	158655074	158655074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158655074C>T	uc001fst.1	-	1	287	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	30					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)					GTCAACACTTCCTGACGCCTC	0.473000														113			12		0	0	0.001855	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565552	24565552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:24565552C>T	uc002wtw.1	+	2	1174	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	181					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCCGCGGGACCACCTGGGCCT	0.572000														78			10		0	0	0.006214	0	0
ZNF768	79724	broad.mit.edu	37	16	30536709	30536709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:30536709C>T	uc002dyk.4	-	1	928	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	ZNF768_uc010vex.2_Missense_Mutation_p.R220Q|ZNF768_uc010vew.2_Missense_Mutation_p.R220Q	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	251					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACCCCTGGCCCGGCCACCCCG	0.667000														29			6		0	0	0.001984	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603000	138603000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138603000C>T	uc011kql.2	-	1	1421	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	KIAA1549_uc011kqj.2_Missense_Mutation_p.E458K	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	458						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGCTGCTTTCTTCCAGCACG	0.507000			O	BRAF	pilocytic astrocytoma									40			4		0	0	0.009096	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730543	173730544	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:173730543_173730544GG>AA	uc003isv.3	+	5	1321_1322	c.585_586GG>AA	c.(583-588)atggcc>atAAcc	p.195_196MA>IT		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	195	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A196V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAGAATACATGGCCCGATTTTC	0.455000														46			16		0	0	0.004672	0	0
ZNF658	26149	broad.mit.edu	37	9	40772423	40772423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:40772423G>A	uc004abs.2	-	4	3004	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.S951L	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGAGGGTTGAATTATGGGC	0.428000														121			15		0	0	0.003163	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279800	32279800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32279800C>T	uc001bts.1	-	1	1193	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R	SPOCD1_uc001btu.3_Missense_Mutation_p.G379R|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	379					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAGCGAGTCCTTGCTCCAGC	0.682000														9			3		0	0	0.004672	0	0
COL20A1	57642	broad.mit.edu	37	20	61957467	61957467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61957467G>A	uc011aau.2	+	29	3522	c.3422G>A	c.(3421-3423)gGa>gAa	p.G1141E	COL20A1_uc011aav.2_Missense_Mutation_p.G962E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1141	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCCTGGAGGGAACTGCTGGC	0.662000														52			6		0	0	0.003080	0	0
DMRT1	1761	broad.mit.edu	37	9	847141	847141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:847141C>T	uc003zgv.3	+	1	685	c.536C>T	c.(535-537)tCa>tTa	p.S179L	DMRT1_uc003zgu.1_Missense_Mutation_p.S179L	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	179					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ACTGCAGCTTCAGGTAATCTG	0.597000														17			4		0	0	0.000602	0	0
CEP350	9857	broad.mit.edu	37	1	179989791	179989791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179989791C>T	uc001gnt.3	+	11	3265	c.2882C>T	c.(2881-2883)tCt>tTt	p.S961F	CEP350_uc009wxl.2_Missense_Mutation_p.S960F|CEP350_uc001gnu.3_Missense_Mutation_p.S795F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	961						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						TCTTCTAGCTCTGATATGCAA	0.473000														116			11		0	0	0.008291	0	0
SEMA4F	10505	broad.mit.edu	37	2	74901796	74901796	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74901796T>G	uc002sna.1	+	7	1105	c.994T>G	c.(994-996)Tcc>Gcc	p.S332A	SEMA4F_uc021vjn.1_Missense_Mutation_p.S332A|SEMA4F_uc010ffq.1_Missense_Mutation_p.S299A|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.S177A	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	332	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.S331F(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CATCTTTTCTTCCCAGTGGTG	0.577000														82			7		0	0	0.001984	0	0
HAUS4	54930	broad.mit.edu	37	14	23416932	23416932	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23416932G>A	uc001whw.3	-	7	966	c.717C>T	c.(715-717)ctC>ctT	p.L239L	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Silent_p.L239L|HAUS4_uc001whu.3_Silent_p.L194L|HAUS4_uc001whv.3_Silent_p.L115L|HAUS4_uc001whq.3_Silent_p.L113L	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	239					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TGAGGCAGCGGAGAAGCACCT	0.502000														57			6		0	0	0.001984	0	0
MYO1G	64005	broad.mit.edu	37	7	45014788	45014788	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:45014788G>A	uc003tmh.2	-	4	747	c.603C>T	c.(601-603)ttC>ttT	p.F201F	MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Silent_p.F86F|MYO1G_uc003tmi.1_Silent_p.F113F|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	201	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAAGGCGTGGAAGTTTCTTT	0.597000														235			19		0	0	0.012319	0	0
NUAK1	9891	broad.mit.edu	37	12	106460825	106460825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106460825C>T	uc001tlj.1	-	6	3121	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	581							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCAAAAGAGTCGCTGGACAGC	0.597000														26			5		0	0	0.000602	0	0
OR11H6	122748	broad.mit.edu	37	14	20691973	20691973	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20691973C>T	uc010tlc.2	+	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTGGGTTTCCATGGTCAAA	0.428000														114			34		0	0	0.006230	0	0
COL17A1	1308	broad.mit.edu	37	10	105800840	105800840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:105800840G>A	uc001kxr.3	-	38	2853	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	895	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)		GGACAGGAACGATCCTGGTGG	0.587000														53			11		0	0	0.001855	0	0
DNER	92737	broad.mit.edu	37	2	230377608	230377608	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:230377608G>A	uc002vpv.3	-	5	1185	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	DNER_uc010zly.1_Silent_p.F74F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	346	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTCTTCACAGAAAGTACCCA	0.438000														23			6		0	0	0.001168	0	0
OR10A5	144124	broad.mit.edu	37	11	6867807	6867807	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:6867807G>A	uc001met.1	+	0	894	c.894G>A	c.(892-894)gtG>gtA	p.V298V		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E297K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCGAGGTGAAGAATGCCC	0.418000														49			16		0	0	0.004990	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858375	9858375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858375C>T	uc010uym.2	-	13	3336	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	GRIN2A_uc002czo.4_Missense_Mutation_p.R1009K|GRIN2A_uc010uyn.2_Missense_Mutation_p.R852K|GRIN2A_uc002czr.4_Missense_Mutation_p.R1009K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1009					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|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGCCGGGGTCTAGAGTTCGC	0.507000														50			23		0	0	0.014323	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627910	12627910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:12627910C>T	uc004cuz.2	+	2	735	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	FRMPD4_uc011mij.2_Missense_Mutation_p.R69W	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	77					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCGGCTCCTCGGAAGGTGGA	0.532000														32			12		0	0	0.013537	0	0
RELN	5649	broad.mit.edu	37	7	103270438	103270438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:103270438C>T	uc022ajr.1	-	19	2811	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	RELN_uc022ajq.1_Missense_Mutation_p.G884E|RELN_uc010liz.3_Missense_Mutation_p.G884E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	884					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G884A(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGTAGAATCCCAGAGACTG	0.403000														69			5		0	0	0.001168	0	0
COLEC12	81035	broad.mit.edu	37	18	335158	335158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:335158C>T	uc002kkm.3	-	5	1615	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	467	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTTTCTGTCCCTTGTTGCC	0.622000														60			17		0	0	0.004990	0	0
SNRPN	6638	broad.mit.edu	37	15	25213133	25213133	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:25213133C>T	uc001ywu.3	+	2	291	c.165C>T	c.(163-165)ttC>ttT	p.F55F	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			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)		TGGTGGATTTCCAGGCTGAAC	0.438000									Prader-Willi syndrome					89			5		0	0	0.001984	0	0
ADH6	130	broad.mit.edu	37	4	100134803	100134803	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100134803G>A	uc003huo.2	-	2	316	c.222C>T	c.(220-222)atC>atT	p.I74I	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Silent_p.I74I|ADH6_uc010ile.3_Silent_p.I74I	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	74					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TACTCTCAACGATTCCAGCCC	0.478000														42			18		0	0	0.006122	0	0
CUBN	8029	broad.mit.edu	37	10	17085901	17085901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:17085901C>T	uc001ioo.3	-	25	3806	c.3754G>A	c.(3754-3756)Gga>Aga	p.G1252R		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1252	CUB 7.				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)	ATGCTGTCTCCACTAGAACGA	0.438000														90			7		0	0	0.001984	0	0
OR4P4	81300	broad.mit.edu	37	11	55406375	55406375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55406375C>T	uc010rij.2	+	0	542	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181P(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388000														45			9		0	0	0.006214	0	0
PLEC	5339	broad.mit.edu	37	8	144990957	144990957	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144990957G>A	uc003zaf.1	-	31	13613	c.13443C>T	c.(13441-13443)atC>atT	p.I4481I	PLEC_uc003zab.1_Silent_p.I4344I|PLEC_uc003zac.1_Silent_p.I4348I|PLEC_uc003zad.2_Silent_p.I4344I|PLEC_uc003zae.1_Silent_p.I4312I|PLEC_uc003zag.1_Silent_p.I4322I|PLEC_uc003zah.2_Silent_p.I4330I|PLEC_uc003zaj.2_Silent_p.I4371I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4481	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCACCATGATCTTGTCCA	0.657000														53			19		0	0	0.007413	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723952	38723952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:38723952G>A	uc001wum.1	-	0	1623	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	426						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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;0.00439)		GGGCTTTCGTGAAAGCAGAGC	0.562000														33			5		0	0	0.001168	0	0
AHNAK	79026	broad.mit.edu	37	11	62295588	62295588	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:62295588T>C	uc001ntl.3	-	4	6601	c.6301A>G	c.(6301-6303)Aag>Gag	p.K2101E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2101					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGGCCCTTCAGCTTCCCT	0.522000														148			18		0	0	0.004990	0	0
CCIN	881	broad.mit.edu	37	9	36169518	36169518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:36169518G>A	uc003zzb.4	+	0	130	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	7					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGAATTCACGGAGAAAAACTA	0.493000														25			8		0	0	0.006214	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957318	35957318	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:35957318C>T	uc003jjv.2	-	4	1240	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V349V|UGT3A1_uc011cor.2_Silent_p.V315V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	349						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAGCCAGTCCACAATTTTCA	0.498000														43			10		0	0	0.013537	0	0
SPG11	80208	broad.mit.edu	37	15	44867233	44867233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:44867233C>T	uc001ztx.3	-	30	5904	c.5873G>A	c.(5872-5874)aGt>aAt	p.S1958N	SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Intron|SPG11_uc010uei.2_Missense_Mutation_p.S1958N|SPG11_uc001zty.1_Missense_Mutation_p.S687N	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1958					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTATCCAGACTTGAAGCTGG	0.498000														44			8		0	0	0.010729	0	0
C19orf35	374872	broad.mit.edu	37	19	2276335	2276335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:2276335C>T	uc002lvn.2	-	3	866	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	256										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TCTGGAACCTCGGCTGCCAGC	0.701000														8			3		0	0	0.004672	0	0
CERCAM	51148	broad.mit.edu	37	9	131186488	131186488	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:131186488G>A	uc004buz.4	+	3	896	c.498G>A	c.(496-498)gtG>gtA	p.V166V	CERCAM_uc004buy.1_Silent_p.V88V|CERCAM_uc010mxz.3_Silent_p.V88V|CERCAM_uc010mya.1_Silent_p.V7V	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	166					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGCTTCCAGTGGTGGCCCCAA	0.597000														103			11		0	0	0.013537	0	0
EIF3E	3646	broad.mit.edu	37	8	109240513	109240513	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:109240513G>A	uc003ymu.3	-	6	733	c.705C>T	c.(703-705)ctC>ctT	p.L235L	EIF3E_uc003ymt.3_Silent_p.L186L	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	235					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GATAAAGGAAGAGGTCAATAA	0.348000														68			5		0	0	0.001168	0	0
OR10G3	26533	broad.mit.edu	37	14	22038555	22038555	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22038555G>A	uc010tmb.2	-	0	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGCTGCCCAGGAAGTGATAGA	0.512000														24			5		0	0	0.000602	0	0
HEATR2	54919	broad.mit.edu	37	7	825182	825183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:825182_825183CC>TT	uc010krz.1	+	12	2480_2481	c.2460_2461CC>TT	c.(2458-2463)ttccca>ttTTca	p.P821S	HEATR2_uc003siz.2_Missense_Mutation_p.P689S|HEATR2_uc003sjb.2_Missense_Mutation_p.P201S|HEATR2_uc003sjc.2_Missense_Mutation_p.P246S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	821							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)		GCGGGCTGTTCCCAGATCTCCT	0.554000														79			26		0	0	0.004672	0	0
SERPINA3	12	broad.mit.edu	37	14	95085577	95085577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95085577G>A	uc001ydp.3	+	2	848	c.689G>A	c.(688-690)aGg>aAg	p.R230K	SERPINA3_uc001ydo.4_Missense_Mutation_p.R255K|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.R230K|SERPINA3_uc001yds.3_Missense_Mutation_p.R230K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	230					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCAGTCAAGGTTCTACTTG	0.527000														52			5		0	0	0.000602	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186763	47186763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47186763C>T	uc001rpi.2	-	2	491	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G31E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G31E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	31					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCTGAATTTCCTATCCCGAT	0.428000														89			23		0	0	0.004656	0	0
RGS9	8787	broad.mit.edu	37	17	63198127	63198127	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:63198127C>G	uc002jfe.3	+	13	1196	c.993C>G	c.(991-993)ttC>ttG	p.F331L	RGS9_uc021ubw.1_Missense_Mutation_p.F328L|RGS9_uc010dem.3_Missense_Mutation_p.F328L|RGS9_uc002jfd.3_Missense_Mutation_p.F328L|RGS9_uc002jfg.3_Missense_Mutation_p.F102L	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	331	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCTGGGATTCTGGGAAGCCT	0.483000														54			6		0	0	0.006214	0	0
OR6K6	128371	broad.mit.edu	37	1	158725174	158725174	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158725174G>A	uc001fsw.1	+	0	569	c.569G>A	c.(568-570)tGg>tAg	p.W190*		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	190					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)					GAGATTGCATGGATTTCCACC	0.488000														75			6		0	0	0.001984	0	0
LTN1	26046	broad.mit.edu	37	21	30339281	30339281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:30339281G>A	uc002ymr.2	-	9	1683	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	511							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACCCAAAACGGACTCAACATC	0.408000														85			5		0	0	0.000602	0	0
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:40118549G>A	uc002xka.1	-	11	1727	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	CHD6_uc002xkd.2_Missense_Mutation_p.P495S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	517	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.P517S(4)|p.A516T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGAGAGAGGGGCGATAATG	0.507000														71			6		0	0	0.001168	0	0
SNTA1	6640	broad.mit.edu	37	20	32005578	32005578	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:32005578G>A	uc002wzd.1	-	2	920	c.648C>T	c.(646-648)tcC>tcT	p.S216S	SNTA1_uc010zuf.1_Silent_p.S216S	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	216	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCATCTTCAAGGACATGTGTT	0.627000														50			6		0	0	0.001984	0	0
MBIP	51562	broad.mit.edu	37	14	36784011	36784011	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:36784011G>A	uc001wtm.2	-	2	448	c.360C>T	c.(358-360)tcC>tcT	p.S120S	MBIP_uc001wto.2_Silent_p.S120S|MBIP_uc010tpy.1_Missense_Mutation_p.P5L|MBIP_uc001wtn.2_Silent_p.S120S	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	120					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GGTCGCCAATGGAAAATTTGT	0.363000														79			8		0	0	0.003080	0	0
C15orf55	256646	broad.mit.edu	37	15	34640322	34640322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:34640322C>T	uc010ucc.2	+	2	635	c.253C>T	c.(253-255)Cca>Tca	p.P85S	C15orf55_uc010ucd.2_Missense_Mutation_p.P75S|C15orf55_uc001zif.3_Missense_Mutation_p.P57S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	57	Pro-rich.					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)		AGTATTCTCTCCAGACAACCC	0.597000			T	"""BRD3, BRD4"""	lethal midline carcinoma									74			20		0	0	0.002780	0	0
HFE2	148738	broad.mit.edu	37	1	145416641	145416641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145416641G>A	uc001eni.2	+	3	1311	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	HFE2_uc001enk.2_Missense_Mutation_p.R216Q|HFE2_uc001enj.2_Missense_Mutation_p.R103Q|HFE2_uc001enl.2_Missense_Mutation_p.R103Q|HFE2_uc021oux.1_Missense_Mutation_p.R103Q	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	329					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGACTCTCTCGATCAGAGCGC	0.552000														50			6		0	0	0.001168	0	0
FAM13C	220965	broad.mit.edu	37	10	61112072	61112072	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61112072G>A	uc010qif.1	-	2	414	c.348C>T	c.(346-348)tcC>tcT	p.S116S	FAM13C_uc010qid.2_Silent_p.S11S|FAM13C_uc001jkn.3_Silent_p.S94S|FAM13C_uc001jko.3_Silent_p.S94S|FAM13C_uc010qie.2_Silent_p.S11S|FAM13C_uc001jkp.3_Silent_p.S11S	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	94										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTTGAAGATGGACTTGGGCT	0.577000														66			9		0	0	0.006214	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507480	74507480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:74507480G>A	uc001dfy.4	-	6	1327	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	379								p.P379fs*26(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353000														55			11		0	0	0.001855	0	0
RYR3	6263	broad.mit.edu	37	15	33858947	33858947	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:33858947C>T	uc001zhi.3	+	11	1285	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	RYR3_uc010bar.3_Silent_p.S405S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	405					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)		GTGAGGAGTCCCAGGCTGCTC	0.532000														87			5		0	0	0.001168	0	0
WNT16	51384	broad.mit.edu	37	7	120965496	120965496	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:120965496G>A	uc003vjv.3	+	0	76	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_016087	NP_057171	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 2, mRNA.	0					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCCTCAGGGAGACCCTCTTCA	0.483000														74			17		0	0	0.008871	0	0
ZNF250	58500	broad.mit.edu	37	8	146107318	146107318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:146107318G>A	uc003zeq.4	-	5	1382	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.P417L|ZNF250_uc010mgg.3_Missense_Mutation_p.P417L	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCATGCATAGGGCTTTTCCTC	0.562000														30			6		0	0	0.001168	0	0
ABCB1	5243	broad.mit.edu	37	7	87179525	87179525	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:87179525G>A	uc003uiz.2	-	12	1805	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	ABCB1_uc011khc.2_Nonsense_Mutation_p.Q374*	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	438	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGCATCAGCTGGACTGTTGTG	0.562000														53			8		0	0	0.003080	0	0
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:82408790C>T	uc001dit.4	+	5	716	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R179C|LPHN2_uc001div.3_Missense_Mutation_p.R179C|LPHN2_uc009wcd.3_Missense_Mutation_p.R179C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	179	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R179C(3)		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)		GACTCCCTATCGTACCGATAC	0.398000														52			13		0	0	0.003163	0	0
LRP5	4041	broad.mit.edu	37	11	68115394	68115394	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:68115394C>T	uc001ont.3	+	1	246	c.171C>T	c.(169-171)atC>atT	p.I57I	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	57	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTCCACCATCGTGGTCAGCG	0.642000														39			12		0	0	0.013537	0	0
LYST	1130	broad.mit.edu	37	1	235950643	235950643	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:235950643T>C	uc001hxj.2	-	13	4894	c.4719A>G	c.(4717-4719)aaA>aaG	p.K1573K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1573					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)			GTAAAACAGCTTTCATGTCAT	0.383000														117			28		0	0	0.006320	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219889	130219889	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:130219889C>T	uc004evz.3	+	8	1452	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	ARHGAP36_uc004ewa.3_Silent_p.V357V|ARHGAP36_uc004ewb.3_Silent_p.V338V|ARHGAP36_uc004ewc.3_Silent_p.V233V	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	369	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGCCTAGGTCCCAGGCAACC	0.438000														120			29		0	0	0.010818	0	0
OR2L8	391190	broad.mit.edu	37	1	248112255	248112255	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248112255C>T	uc001idt.1	+	0	96	c.96C>T	c.(94-96)ttC>ttT	p.F32F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	32					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)			TCATTGTTTTCATTTTCCTGA	0.398000														146			9		0	0	0.004482	0	0
NSUN7	79730	broad.mit.edu	37	4	40778076	40778076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:40778076G>A	uc003gvj.4	+	6	1331	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	NSUN7_uc003gvi.4_Missense_Mutation_p.R279Q	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GACAAATCTCGAAGTCTTGCT	0.348000														21			7		0	0	0.003080	0	0
ARMC8	25852	broad.mit.edu	37	3	137963936	137963936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:137963936C>T	uc003esa.1	+	12	1370	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	ARMC8_uc003erw.3_Missense_Mutation_p.H335Y|ARMC8_uc003erx.3_Missense_Mutation_p.H335Y|ARMC8_uc003ery.3_Missense_Mutation_p.H307Y|ARMC8_uc011bmf.1_Missense_Mutation_p.H318Y|ARMC8_uc011bmg.1_Missense_Mutation_p.H282Y|ARMC8_uc011bmh.1_Missense_Mutation_p.H276Y|ARMC8_uc003esb.1_Missense_Mutation_p.H307Y|ARMC8_uc003esc.1_Missense_Mutation_p.H107Y	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	349							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATAGCTTGATCATGATTTAAA	0.388000														119			25		0	0	0.004656	0	0
OR52R1	119695	broad.mit.edu	37	11	4825011	4825011	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4825011C>T	uc021qcs.1	-	0	600	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	200					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)		AGAGCCCATTCCCACGACTTA	0.493000														37			4		0	0	0.000602	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489907	20489907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20489907G>A	uc010bwe.3	+	10	1428	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ACSM2A_uc010vax.1_Missense_Mutation_p.D318N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D397N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D397N|ACSM2A_uc010vay.2_Missense_Mutation_p.D318N|ACSM2A_uc002dhh.4_Missense_Mutation_p.D27N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	397					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GATCATAGATGATAAGGGCAA	0.478000														46			6		0	0	0.001168	0	0
FABP1	2168	broad.mit.edu	37	2	88425812	88425812	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:88425812G>A	uc002sst.2	-	1	237	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	41					organ morphogenesis			p.I41I(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCTGCACGATTTCCGACA	0.527000														175			9		0	0	0.004482	0	0
MAP7D1	55700	broad.mit.edu	37	1	36644905	36644905	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:36644905T>C	uc001bzz.3	+	12	2389	c.2173T>C	c.(2173-2175)Tct>Cct	p.S725P	MAP7D1_uc001caa.3_Missense_Mutation_p.S693P|MAP7D1_uc001cab.3_Missense_Mutation_p.S688P|MAP7D1_uc001cac.3_Missense_Mutation_p.S425P|MAP7D1_uc001cad.3_Missense_Mutation_p.S262P	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	725						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTCAGAAGTTTCTGAAACCAA	0.592000														33			6		0	0	0.001168	0	0
MSS51	118490	broad.mit.edu	37	10	75187441	75187441	+	Nonsense_Mutation	SNP	G	A	A	rs145089649		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75187441G>A	uc009xrh.3	-	3	449	c.376C>T	c.(376-378)Cga>Tga	p.R126*	MSS51_uc001juc.3_Nonsense_Mutation_p.R103*|MSS51_uc001jud.3_Nonsense_Mutation_p.R103*|MSS51_uc009xrg.3_Silent_p.F25F	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	103							zinc ion binding										GCACAGAATCGAAATGTGTCT	0.507000														96			11		0	0	0.008291	0	0
LYST	1130	broad.mit.edu	37	1	235840451	235840451	+	Missense_Mutation	SNP	G	A	A	rs138111566	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:235840451G>A	uc001hxj.2	-	49	11153	c.10978C>T	c.(10978-10980)Cct>Tct	p.P3660S	LYST_uc001hxi.2_Missense_Mutation_p.P884S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3660					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)			GCTGTGACAGGGCTTTTGTGT	0.423000														77			11		0	0	0.002450	0	0
SCARF1	8578	broad.mit.edu	37	17	1538059	1538059	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:1538059T>C	uc002fsz.1	-	10	2536	c.2486A>G	c.(2485-2487)gAa>gGa	p.E829G	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.E743G	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	829					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCAGGGTTCTGGTGGCCT	0.557000														92			32		0	0	0.003755	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720191	140720191	+	Silent	SNP	C	T	T	rs139317352		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140720191C>T	uc003ljk.2	+	0	1838	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.F551F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	553	Cadherin 5.				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)			TAAGCCTGTTCGTGCTGGACC	0.602000														73			22		0	0	0.003330	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589905	11589905	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:11589905G>A	uc001ash.4	+	14	3129	c.2991G>A	c.(2989-2991)ggG>ggA	p.G997G		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	997					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGGCTGCGGGAAGCCGGCGG	0.627000														45			6		0	0	0.004482	0	0
GCOM1	145781	broad.mit.edu	37	15	57913875	57913875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57913875C>T	uc002aei.3	+	3	519	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_uc002aej.3_Nonsense_Mutation_p.R130*|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Nonsense_Mutation_p.R130*|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Nonsense_Mutation_p.R130*	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	130					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ACAGAAGATTCGACAGCTCAC	0.473000														114			7		0	0	0.003080	0	0
ZNF761	388561	broad.mit.edu	37	19	53958887	53958887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53958887C>T	uc010eqp.3	+	6	1584	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H322Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H322Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K376*(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATAGACTTCATACTGGAGA	0.433000														68			21		0	0	0.014323	0	0
MYH9	4627	broad.mit.edu	37	22	36710238	36710238	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:36710238G>A	uc003apg.3	-	12	1737	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	MYH9_uc003aph.1_Silent_p.I366I	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	502	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCCAAAGTCGATGAAGTTCC	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					44			8		0	0	0.003080	0	0
C12orf43	64897	broad.mit.edu	37	12	121442889	121442889	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121442889G>A	uc009zxa.1	-	4	485	c.462C>T	c.(460-462)cgC>cgT	p.R154R	C12orf43_uc001tzh.1_Silent_p.R123R|C12orf43_uc010szo.1_Silent_p.R81R|C12orf43_uc010szp.1_Intron|C12orf43_uc001tzi.1_Silent_p.R123R	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	123										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					tgaagaaaaggcggaaaccta	0.418000														186			15		0	0	0.004007	0	0
COL1A1	1277	broad.mit.edu	37	17	48271376	48271376	+	Silent	SNP	G	A	A	rs74315120		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48271376G>A	uc002iqm.3	-	24	1821	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	565	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTGGGGGTCCGGGGCGACCAT	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							59			6		0	0	0.001168	0	0
FAM75C1	441452	broad.mit.edu	37	9	90538261	90538261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:90538261C>T	uc010mqi.3	+	3	3468	c.3439C>T	c.(3439-3441)Cgg>Tgg	p.R1147W	FAM75C1_uc004apq.4_Missense_Mutation_p.R1130W|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GAAAAGTGTCCGGTGCAACAA	0.557000														88			7		0	0	0.004482	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324001	44324001	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44324001C>T	uc002zcm.3	+	2	945	c.879C>T	c.(877-879)gtC>gtT	p.V293V	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CCTTACCTGTCCACACAAAAT	0.468000														93			7		0	0	0.003080	0	0
FAM168B	130074	broad.mit.edu	37	2	131812892	131812892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:131812892C>T	uc002tsd.3	-	4	657	c.428G>A	c.(427-429)gGg>gAg	p.G143E		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	143								p.G143W(1)		endometrium(3)|lung(2)	5						CATGGTGACCCCGTTGCCTCT	0.632000														79			8		0	0	0.006214	0	0
MAP4K4	9448	broad.mit.edu	37	2	102441817	102441817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102441817G>A	uc002tbc.3	+	4	721	c.343G>A	c.(343-345)Gac>Aac	p.D115N	MAP4K4_uc002tbf.3_Missense_Mutation_p.D115N|MAP4K4_uc002tbd.3_Missense_Mutation_p.D115N|MAP4K4_uc010yvy.2_Missense_Mutation_p.D115N|MAP4K4_uc002tbh.3_Missense_Mutation_p.D115N|MAP4K4_uc002tbg.3_Missense_Mutation_p.D115N|MAP4K4_uc002tbi.3_Missense_Mutation_p.D115N|MAP4K4_uc010yvz.2_Missense_Mutation_p.D95N|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_Missense_Mutation_p.D11N	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	115	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCCATTACAGACCTTGTGAA	0.463000														19			4		0	0	0.009096	0	0
abParts	0	broad.mit.edu	37	14	107078658	107078658	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107078658C>T	uc021ser.1	-	135		c.6016G>A								Parts of antibodies, mostly variable regions.																		ACTGCACCAGCTGCATTTGGG	0.557000														29			10		0	0	0.010729	0	0
RHO	6010	broad.mit.edu	37	3	129247885	129247885	+	Silent	SNP	C	T	T	rs149615742	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:129247885C>T	uc003emt.3	+	0	404	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	103					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGATACTTCGTCTTCGGGC	0.602000														78			10		0	0	0.010729	0	0
C9orf156	51531	broad.mit.edu	37	9	100672574	100672574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:100672574G>A	uc004axv.1	-	3	811	c.734C>T	c.(733-735)cCt>cTt	p.P245L	C9orf156_uc004axw.1_Missense_Mutation_p.P142L|C9orf156_uc010msq.1_Missense_Mutation_p.P142L	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	245					interspecies interaction between organisms		hydrolase activity	p.P245S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTGTGCATAGGAAATGCTTG	0.453000														123			14		0	0	0.004007	0	0
SYNE1	23345	broad.mit.edu	37	6	152539445	152539445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152539445G>A	uc021zhb.1	-	118	22361	c.22138C>T	c.(22138-22140)Cct>Tct	p.P7380S	SYNE1_uc003qos.4_Missense_Mutation_p.P1904S|SYNE1_uc003qot.4_Missense_Mutation_p.P7309S|SYNE1_uc003qou.4_Missense_Mutation_p.P7380S|SYNE1_uc003qor.4_Missense_Mutation_p.P280S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7380					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTGGCTAGGGTCCTGCCCT	0.438000										HNSCC(10;0.0054)				203			22		0	0	0.014323	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156812213G>A	uc010pht.2	-	17	3513	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000														66			9		0	0	0.008291	0	0
CLIP4	79745	broad.mit.edu	37	2	29356672	29356672	+	Silent	SNP	G	A	A	rs150045383		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:29356672G>A	uc002rmv.3	+	4	758	c.519G>A	c.(517-519)tcG>tcA	p.S173S	CLIP4_uc002rmu.3_Silent_p.S173S|CLIP4_uc010ezm.1_Silent_p.S173S|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Silent_p.S155S	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	173								p.S173S(2)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328000														36			5		0	0	0.001168	0	0
RFX6	222546	broad.mit.edu	37	6	117250065	117250065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117250065G>A	uc003pxm.3	+	17	2605	c.2542G>A	c.(2542-2544)Ggt>Agt	p.G848S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	848					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						AGATGACAGTGGTAGAAAACA	0.433000														54			9		0	0	0.006214	0	0
CKAP5	9793	broad.mit.edu	37	11	46765780	46765780	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:46765780G>A	uc001ndi.2	-	43	6018	c.5892C>T	c.(5890-5892)tcC>tcT	p.S1964S	CKAP5_uc009ylg.1_Silent_p.S1857S|CKAP5_uc001ndj.2_Silent_p.S1904S|CKAP5_uc001ndh.1_Silent_p.S893S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1964					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTGCTGGTTTGGAGAGCAAAG	0.532000														47			6		0	0	0.001984	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197869	19197869	+	Silent	SNP	G	A	A	rs36059037		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:19197869G>A	uc021wle.1	-	19	3291	c.3216C>T	c.(3214-3216)ttC>ttT	p.F1072F	CLTCL1_uc021wld.1_Silent_p.F1072F|CLTCL1_uc021wlc.1_Silent_p.F1072F|CLTCL1_uc021wlf.1_Silent_p.F1072F|CLTCL1_uc011agw.1_Silent_p.F1072F|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_Silent_p.F32F|CLTCL1_uc002zpe.2_Silent_p.F32F	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1072	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)					CAAACTTGTGGAAAACGGTGA	0.552000			T	?	ALCL									57			16		0	0	0.006122	0	0
MDH2	4191	broad.mit.edu	37	7	75686735	75686735	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:75686735C>T	uc003ueo.3	+	2	329	c.243C>T	c.(241-243)ctC>ctT	p.L81L	MDH2_uc011kgh.2_Silent_p.L81L|MDH2_uc003uep.3_5'UTR	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	81					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	TAGGCTACCTCGGACCTGAAC	0.512000														33			11		0	0	0.010729	0	0
DNAH9	1770	broad.mit.edu	37	17	11872808	11872808	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11872808G>A	uc002gne.3	+	68	13493	c.13425G>A	c.(13423-13425)tgG>tgA	p.W4475*	DNAH9_uc010coo.3_Nonsense_Mutation_p.W3693*|DNAH9_uc002gnf.3_Nonsense_Mutation_p.W787*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4475					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCCAAGTGGGTTCTGGCTG	0.527000														19			3		0	0	0.009096	0	0
NWD1	284434	broad.mit.edu	37	19	16884103	16884103	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:16884103C>T	uc002neu.4	+	10	2999	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	NWD1_uc002net.4_Silent_p.P724P|NWD1_uc002nev.4_Silent_p.P653P|NWD1_uc021uqg.1_Silent_p.P724P	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	859							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGGGAGGACCCCTCCGGGCAA	0.637000														13			5		0	0	0.001168	0	0
CNGB3	54714	broad.mit.edu	37	8	87641295	87641295	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:87641295C>T	uc003ydx.3	-	11	1380	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	CNGB3_uc010maj.3_Silent_p.V306V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	444					signal transduction|visual perception	integral to membrane	cGMP binding	p.D443H(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGCTCCAATCACATCTCTCA	0.418000														122			50		0	0	0.014410	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984509	128984509	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:128984509G>A	uc003kvb.1	+	12	2004	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	668	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGAAGCAAGGGATTGTAATG	0.343000														44			5		0	0	0.000602	0	0
ILDR1	286676	broad.mit.edu	37	3	121712643	121712643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121712643G>A	uc003ees.3	-	6	1156	c.953C>T	c.(952-954)tCc>tTc	p.S318F	ILDR1_uc003eeq.3_Missense_Mutation_p.S286F|ILDR1_uc003eer.3_Missense_Mutation_p.S274F|ILDR1_uc010hrg.3_Missense_Mutation_p.S229F	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	318						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)		GCCCAGGGAGGACAGCATGCT	0.587000														34			8		0	0	0.003080	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047276	75047276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:75047276G>A	uc002ayr.1	+	6	1462	c.1398G>A	c.(1396-1398)tgG>tgA	p.W466*		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	466					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGGCCAAGTGGGAGATCTTCC	0.587000														52			7		0	0	0.003080	0	0
GRK1	6011	broad.mit.edu	37	13	114324052	114324052	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:114324052C>T	uc010tkf.2	+	1	855	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	250	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCAGGTTCATCGTGTCTCTGG	0.512000														145			11		0	0	0.008291	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643927	37643927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:37643927G>A	uc002ofo.1	-	4	1105	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.H237Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.H237Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTATGAATTCTTCGG	0.438000														143			23		0	0	0.002780	0	0
TLR5	7100	broad.mit.edu	37	1	223285526	223285526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223285526G>A	uc021pjl.1	-	0	848	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TLR5_uc001hnv.2_Missense_Mutation_p.A283V|TLR5_uc001hnw.2_Missense_Mutation_p.A283V	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	283					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGCCAGGCCAGCAAATGTGTT	0.483000														44			13		0	0	0.013537	0	0
TCRA	0	broad.mit.edu	37	14	22315312	22315312	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22315312G>T	uc001wbz.1	+	1	475	c.250G>T	c.(250-252)Gct>Tct	p.A84S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Missense_Mutation_p.A65S					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		CGGTTTTGAGGCTGAATTTAA	0.502000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			17		5.26018e-13	5.47995e-13	0.012319	1	0
MYH4	4622	broad.mit.edu	37	17	10348210	10348210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10348210C>T	uc002gmn.3	-	37	5584	c.5473G>A	c.(5473-5475)Gag>Aag	p.E1825K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1825					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						CTTTCAAGCTCTCTCACCTGG	0.483000														77			7		0	0	0.001984	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313448	17313448	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:17313448G>A	uc001baa.2	-	26	3277	c.3087C>T	c.(3085-3087)ttC>ttT	p.F1029F	ATP13A2_uc001bac.2_Silent_p.F985F|ATP13A2_uc001bab.2_Silent_p.F1024F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	1029					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCAGAGGCACGAACCTGGGGG	0.617000														45			7		0	0	0.001984	0	0
SACS	26278	broad.mit.edu	37	13	23912636	23912636	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:23912636A>C	uc001uon.2	-	9	5968	c.5379T>G	c.(5377-5379)ttT>ttG	p.F1793L	SACS_uc001uoo.2_Missense_Mutation_p.F1646L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1793					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATTTCAAAGAGAGCAG	0.443000														66			10		0	0	0.008291	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874650	88874650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:88874650G>A	uc002stc.4	-	12	2653	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	784	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGTTCAAAGGAGTGCCCCTC	0.458000														435			39		0	0	0.004289	0	0
MYH8	4626	broad.mit.edu	37	17	10300303	10300303	+	Splice_Site	SNP	C	T	T	rs143515663		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10300303C>T	uc002gmm.2	-	31	4274	c.4179_splice	c.e31-1	p.K1393_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1393					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAACTTTTTCCTGAAAAGTT	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					30			4		0	0	0.009096	0	0
CFTR	1080	broad.mit.edu	37	7	117175412	117175412	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:117175412G>A	uc003vjd.3	+	5	822	c.690G>A	c.(688-690)ctG>ctA	p.L230L	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	230	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGGTTTCCTGATAGTCCTTG	0.448000									Cystic Fibrosis					66			25		0	0	0.003330	0	0
ALPK2	115701	broad.mit.edu	37	18	56203775	56203775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:56203775G>A	uc002lhj.4	-	4	3858	c.3644C>T	c.(3643-3645)tCt>tTt	p.S1215F	ALPK2_uc002lhk.1_Missense_Mutation_p.S546F	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1215							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGGATATCAGAGAGAGATGG	0.512000														92			12		0	0	0.010729	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495040	96495040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96495040G>A	uc001kjv.4	+	8	1638	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E379K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	438					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			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)	GTGTATGGGAGAGGGCCTGGC	0.433000														50			5		0	0	0.001168	0	0
CELSR2	1952	broad.mit.edu	37	1	109794276	109794276	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:109794276C>T	uc001dxa.4	+	0	1636	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	525	Cadherin 4.				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)		ACCTGGTTCTCCATGTCCAGG	0.562000														280			63		0	0	0.014410	0	0
ACOT9	23597	broad.mit.edu	37	X	23723117	23723117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:23723117G>A	uc004dao.3	-	13	1246	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	ACOT9_uc004dan.3_Missense_Mutation_p.S108F|ACOT9_uc004dap.3_Missense_Mutation_p.S358F|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Missense_Mutation_p.S298F	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	358					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TACCTGTGAAGAAAGAAAGAG	0.403000														30			6		0	0	0.001168	0	0
TRPM5	29850	broad.mit.edu	37	11	2438964	2438964	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:2438964C>T	uc010qxl.2	-	6	1011	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	TRPM5_uc001lwm.4_Silent_p.L334L|TRPM5_uc009ydn.3_Silent_p.L336L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	334						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTTTCACCAGCGCCTTCA	0.622000														41			4		0	0	0.009096	0	0
AKAP9	10142	broad.mit.edu	37	7	91632338	91632338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:91632338C>T	uc003ulg.3	+	7	3332	c.3107C>T	c.(3106-3108)tCt>tTt	p.S1036F	AKAP9_uc003ule.2_Missense_Mutation_p.S1048F|AKAP9_uc003ulf.3_Missense_Mutation_p.S1036F|AKAP9_uc003uli.3_Missense_Mutation_p.S661F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1048					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCAGTTTCTAAAGTAAAT	0.358000			T	BRAF	papillary thyroid									36			8		0	0	0.004482	0	0
OR13D1	286365	broad.mit.edu	37	9	107457422	107457422	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107457422G>A	uc011lvs.2	+	0	720	c.720G>A	c.(718-720)gtG>gtA	p.V240V		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTTCACTGGTGATTCTTCTAC	0.353000														61			5		0	0	0.000602	0	0
VPS35	55737	broad.mit.edu	37	16	46696963	46696963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:46696963C>T	uc002eef.4	-	13	1858	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R	VPS35_uc002eed.3_Missense_Mutation_p.G408R|VPS35_uc002eee.3_Missense_Mutation_p.G548R	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	587					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTAGTGCTCCTTGAAGAAAA	0.423000														28			4		0	0	0.009096	0	0
ZNF560	147741	broad.mit.edu	37	19	9577806	9577806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9577806C>T	uc002mlp.1	-	9	2027	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	ZNF560_uc010dwr.1_Missense_Mutation_p.G500E	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAGGCTTTTCCACATTTCTT	0.408000														71			17		0	0	0.007413	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858331	9858331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858331C>T	uc010uym.2	-	13	3380	c.3070G>A	c.(3070-3072)Gat>Aat	p.D1024N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1024N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D867N|GRIN2A_uc002czr.4_Missense_Mutation_p.D1024N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1024					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|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATAGTGAATCCTGGCGTATG	0.542000														112			12		0	0	0.010729	0	0
RYR1	6261	broad.mit.edu	37	19	38980039	38980039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38980039G>A	uc002oit.3	+	34	5900	c.5770G>A	c.(5770-5772)Gaa>Aaa	p.E1924K	RYR1_uc002oiu.3_Missense_Mutation_p.E1924K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1924	6 X approximate repeats.|Glu-rich (acidic).				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)	AGGCTTGGAGGAAGGGCTGCT	0.542000														53			5		0	0	0.001984	0	0
LRRC66	339977	broad.mit.edu	37	4	52861180	52861180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:52861180G>A	uc003gzi.3	-	3	2015	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	670						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATCTTGGAGGAAAGACTGAT	0.562000														37			19		0	0	0.008871	0	0
WDR64	128025	broad.mit.edu	37	1	241907818	241907818	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:241907818G>A	uc001hzg.2	+	12	1771	c.1564_splice	c.e12+1	p.G522_splice	WDR64_uc021plh.1_Splice_Site_p.G316_splice|WDR64_uc021pli.1_Splice_Site_p.G242_splice	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	522										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCGTATAATGGTCAGACTAA	0.433000														44			11		0	0	0.001855	0	0
CDCP2	200008	broad.mit.edu	37	1	54610311	54610311	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:54610311G>A	uc001cwv.1	-	1	1103	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	85	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCAGAAAGTCGAAGCTGCAGG	0.612000														26			9		0	0	0.008291	0	0
EBF2	64641	broad.mit.edu	37	8	25708206	25708206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:25708206G>A	uc003xes.2	-	14	1865	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	534	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGACAGCAGGAAAAACTGAA	0.507000														57			5		0	0	0.000602	0	0
LRIF1	55791	broad.mit.edu	37	1	111490995	111490995	+	Silent	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:111490995T>A	uc001eaa.3	-	3	2152	c.1896A>T	c.(1894-1896)gcA>gcT	p.A632A	LRIF1_uc001dzz.3_Silent_p.A96A|LRIF1_uc001eab.3_Silent_p.A96A	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTAGTTTTTGCTTTTCTTT	0.343000														19			5		0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19442124	19442124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19442124G>A	uc001bbi.3	-	73	10835	c.10831C>T	c.(10831-10833)Cgc>Tgc	p.R3611C	UBR4_uc001bbj.1_Missense_Mutation_p.R26C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3611					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3611C(2)|p.R3611L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTGCCAGCGAGCTGGCCTA	0.483000														95			19		0	0	0.010504	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601062	183601062	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:183601062T>C	uc002uow.1	+	10	1351	c.936T>C	c.(934-936)gcT>gcC	p.A312A	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	312					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTACTACTGCTTATTTTCCTC	0.338000														26			6		0	0	0.001168	0	0
FKBP6	8468	broad.mit.edu	37	7	72745747	72745747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72745747C>T	uc003tya.2	+	4	688	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	FKBP6_uc003twz.2_Missense_Mutation_p.R156C|FKBP6_uc011kew.1_Missense_Mutation_p.R181C|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	186					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R186C(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGCCAGAATCGTTTCTATGA	0.423000														75			19		0	0	0.012319	0	0
SPATA7	55812	broad.mit.edu	37	14	88904668	88904668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:88904668C>T	uc001xwq.3	+	11	2123	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	SPATA7_uc001xwr.3_Nonsense_Mutation_p.Q536*|SPATA7_uc001xws.3_Nonsense_Mutation_p.Q504*|SPATA7_uc001xwt.3_Nonsense_Mutation_p.Q462*|SPATA7_uc001xwu.3_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	568					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCAATCTGTTCAGTTCTCCAG	0.398000														43			7		0	0	0.003080	0	0
ALKBH8	91801	broad.mit.edu	37	11	107403073	107403073	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:107403073C>T	uc010rvr.2	-	7	906	c.831G>A	c.(829-831)cgG>cgA	p.R277R	ALKBH8_uc001pjk.3_Silent_p.R25R|ALKBH8_uc010rvq.2_Silent_p.R140R|ALKBH8_uc009yxp.3_Silent_p.R277R|ALKBH8_uc001pjl.3_Non-coding_Transcript	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA.	277	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CCAGCAAACTCCGACGAGGCA	0.383000														22			7		0	0	0.001984	0	0
VWA5A	4013	broad.mit.edu	37	11	124012337	124012337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124012337C>T	uc001pzu.3	+	15	2121	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	VWA5A_uc001pzt.3_Missense_Mutation_p.P638S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	638										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGACCGTCCTCCTTCTGCATC	0.478000														52			11		0	0	0.013537	0	0
PRKACG	5568	broad.mit.edu	37	9	71628097	71628097	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:71628097G>A	uc004agy.3	-	0	943	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	304	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CATAGATGGCGATCCAGCTGG	0.572000														50			13		0	0	0.013537	0	0
ALS2	57679	broad.mit.edu	37	2	202598155	202598155	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:202598155G>A	uc002uyo.3	-	12	2780	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	ALS2_uc002uyp.4_Silent_p.F808F|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	808	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.F808F(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTTATTTAGGAAATCACTAG	0.303000														29			4		0	0	0.000602	0	0
EIF4G3	8672	broad.mit.edu	37	1	21221991	21221991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:21221991G>A	uc001bec.3	-	11	2091	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	EIF4G3_uc010odi.2_Missense_Mutation_p.S216F|EIF4G3_uc010odj.2_Missense_Mutation_p.S611F|EIF4G3_uc009vpz.3_Missense_Mutation_p.S332F|EIF4G3_uc001bef.3_Missense_Mutation_p.S611F|EIF4G3_uc001bee.3_Missense_Mutation_p.S618F	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	612					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGCTTCCAGGATTCTAGAAA	0.423000														38			11		0	0	0.001855	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394920	233394920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:233394920C>T	uc001hvl.2	-	4	923	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	230						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTCCTCTTTCCTTTCCTTTA	0.507000														104			7		0	0	0.003080	0	0
PPAP2C	8612	broad.mit.edu	37	19	288022	288023	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:288022_288023GG>AA	uc002loh.3	-	1	367_368	c.264_265CC>TT	c.(262-267)atcctt>atTTtt	p.L89F	PPAP2C_uc002loi.3_Missense_Mutation_p.L68F|PPAP2C_uc002loj.3_Missense_Mutation_p.L12F	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	68					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTTACAAGGATGACGGTGG	0.649000														56			5		0	0	0.004672	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824611	125824611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:125824611G>A	uc003eim.1	-	21	2801	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.P770S|ALDH1L1_uc003ein.1_Missense_Mutation_p.P406S	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	871	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.A870T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTCCGAAGGGAGCGGCCACG	0.488000														96			12		0	0	0.003163	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	A	A	rs144536521		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141673385G>A	uc003vwx.1	-	0	189	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000														30			10		0	0	0.008291	0	0
SECTM1	6398	broad.mit.edu	37	17	80280073	80280073	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:80280073G>A	uc002keo.3	-	4	1109	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	237					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGTTGGGGGGACAGCAGCT	0.652000														81			8		0	0	0.006214	0	0
ZNF607	84775	broad.mit.edu	37	19	38200709	38200709	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38200709G>A	uc002ohc.2	-	2	620	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF607_uc002ohb.2_Silent_p.F8F	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F8F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACATCCCCGAATGTTATTG	0.498000														43			4		0	0	0.000602	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619172	108619172	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:108619172G>A	uc022cch.1	-	17	3368	c.3283C>T	c.(3283-3285)Caa>Taa	p.Q1095*	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Nonsense_Mutation_p.Q1095*	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	1095					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTCTTCTTTGGAAGGCTGCA	0.498000														56			11		0	0	0.008291	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917375	108917375	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:108917375G>A	uc002tdy.3	+	3	812	c.359G>A	c.(358-360)tGg>tAg	p.W120*	SULT1C2_uc010ywp.1_Nonsense_Mutation_p.W35*|SULT1C2_uc010ywq.2_Nonsense_Mutation_p.W134*|SULT1C2_uc002tdx.3_Nonsense_Mutation_p.W131*	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	120					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCGTCTTTCTGGGAAAACAAC	0.493000														86			18		0	0	0.007413	0	0
KRT33A	3883	broad.mit.edu	37	17	39503171	39503171	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39503171G>A	uc002hwk.1	-	4	838	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	267	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCGCCTGGTAGGACTGCAGCT	0.602000														40			11		0	0	0.002450	0	0
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142650939C>T	uc003wcb.3	-	8	1239	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	343					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557000														193			19		0	0	0.008871	0	0
BSN	8927	broad.mit.edu	37	3	49688110	49688110	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49688110G>A	uc003cxe.4	+	3	1698	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	528					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TAGGAGAGCCGACCCCCCTGC	0.612000														111			13		0	0	0.001855	0	0
LPHN2	23266	broad.mit.edu	37	1	82408945	82408945	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:82408945G>A	uc001dit.4	+	5	871	c.690G>A	c.(688-690)gtG>gtA	p.V230V	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V230V|LPHN2_uc001div.3_Silent_p.V230V|LPHN2_uc009wcd.3_Silent_p.V230V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	230	Olfactomedin-like.				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)		GGAATATTGTGAAATTTGACT	0.383000														38			7		0	0	0.003080	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379812	61379812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61379812G>A	uc002ljk.4	+	3	413	c.242G>A	c.(241-243)gGa>gAa	p.G81E	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	81					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGCCAAGCTGGAAGAATTCAT	0.418000														56			11		0	0	0.008291	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066279	70066279	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:70066279G>T	uc003heh.3	-	5	1478	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	490					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S490Y(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CACATCCAAAGAGTGGTACTG	0.463000														97			10		0.00136819	0.00141431	0.013537	1	0
HERC2P3	283755	broad.mit.edu	37	15	20643903	20643903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:20643903G>A	uc001ytg.3	-	22	3576	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.T956I					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											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						GAACTGCACGGTGATTTTGCC	0.512000														100			14		0	0	0.004007	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235756	1235756	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:1235756G>A	uc003jby.2	+	3	723	c.600G>A	c.(598-600)agG>agA	p.R200R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	200					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGTCATCAGGGGCATTGAGA	0.577000														93			9		0	0	0.006214	0	0
ZAN	7455	broad.mit.edu	37	7	100373332	100373332	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100373332C>T	uc003uwj.3	+	33	6231	c.6066C>T	c.(6064-6066)atC>atT	p.I2022I	ZAN_uc003uwk.3_Silent_p.I2022I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.I110I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2023	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTCCCAGATCCCTGGGGTCA	0.522000														42			7		0	0	0.008291	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19204035	19204035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19204035G>A	uc001bbb.3	-	9	1288	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ALDH4A1_uc010ocu.2_Missense_Mutation_p.R278C|ALDH4A1_uc001bbc.3_Missense_Mutation_p.R338C|ALDH4A1_uc021ohl.1_Missense_Mutation_p.R338C	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	338					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AAGGCTGAGCGGAGGGTCCCG	0.657000														17			4		0	0	0.000602	0	0
MYH8	4626	broad.mit.edu	37	17	10322008	10322009	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10322008_10322009GG>AA	uc002gmm.2	-	4	559_560	c.464_465CC>TT	c.(463-465)ccc>cTT	p.P155L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	155	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.P154P(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGATGTGGGGCGGGGCCTC	0.520000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					125			9		0	0	0.004672	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39254013G>C	uc010wfo.2	-	0	363	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.S108R(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662000														21			3		0	0	0.000602	0	0
EPHA5	2044	broad.mit.edu	37	4	66509130	66509130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:66509130G>A	uc003hcy.3	-	1	390	c.197C>T	c.(196-198)tCa>tTa	p.S66L	EPHA5_uc003hcx.3_5'UTR|EPHA5_uc003hcz.3_Missense_Mutation_p.S66L|EPHA5_uc011cah.2_Missense_Mutation_p.S66L|EPHA5_uc011cai.2_Missense_Mutation_p.S66L|EPHA5_uc003hda.2_Missense_Mutation_p.S66L	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	66					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACAGTGCGTGAATCCAATAA	0.313000										TSP Lung(17;0.13)				28			16		0	0	0.007413	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138605	5138605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:5138605C>T	uc021pml.1	+	1	134	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc010qap.2_Missense_Mutation_p.P7S|AKR1C3_uc010qaq.1_Missense_Mutation_p.P30S|AKR1C3_uc001ihu.3_Missense_Mutation_p.P30S	NM_001253908	NP_001240837	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 2, mRNA.	30					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			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CCTCCAGGTTCCGAGAAGTAA	0.433000														22			4		0	0	0.000602	0	0
SHISA3	152573	broad.mit.edu	37	4	42403154	42403154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:42403154C>T	uc003gwp.3	+	1	621	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	135					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						GCAGCCAATCCGCTTCTCACT	0.592000														198			16		0	0	0.008871	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610048	47610048	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47610048G>A	uc001cqv.1	+	6	861	c.810G>A	c.(808-810)agG>agA	p.R270R	CYP4A22_uc009vyo.3_Silent_p.R270R|CYP4A22_uc009vyp.3_Missense_Mutation_p.E219K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	270						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAACTGAGGAAGGCTCAAC	0.542000														68			23		0	0	0.014323	0	0
DHX34	9704	broad.mit.edu	37	19	47856294	47856294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47856294C>T	uc010xyn.2	+	1	356	c.7C>T	c.(7-9)Cct>Tct	p.P3S	DHX34_uc010elc.1_Missense_Mutation_p.P3S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	3						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TAACATGCCTCCTCCTAGAAC	0.527000														13			9		0	0	0.006214	0	0
NLRP14	338323	broad.mit.edu	37	11	7059796	7059796	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7059796G>A	uc001mfb.1	+	2	303	c.-20_splice	c.e2-1			NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCCCCCCACAGAGGCCTGAAT	0.338000														61			8		0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	3326276	3326276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:3326276C>T	uc022aqr.1	-	11	1909	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	508	CUB 3.					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)		ATGCTATCATCCGACTGCAGA	0.463000														7			3		0	0	0.004672	0	0
ALK	238	broad.mit.edu	37	2	29543651	29543651	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:29543651C>T	uc002rmy.3	-	6	2464	c.1512G>A	c.(1510-1512)agG>agA	p.R504R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	504	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTTAGGGTCCTGACCTGCC	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					69			16		0	0	0.008871	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107432	107432	+	RNA	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrGL000211.1:107432T>A	uc003boa.3	+	4		c.972T>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TCCAAAATATTTGTTTTAACA	0.338000														69			14		0	0	0.001855	0	0
TAAR2	9287	broad.mit.edu	37	6	132938398	132938398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132938398C>T	uc003qdl.1	-	1	947	c.947G>A	c.(946-948)gGt>gAt	p.G316D	TAAR2_uc010kfr.1_Missense_Mutation_p.G271D	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	316						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATAGAAGAAACCATATATTAA	0.348000														11			9		0	0	0.008291	0	0
EFEMP1	2202	broad.mit.edu	37	2	56149495	56149495	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:56149495C>T	uc002rzi.3	-	3	582	c.81_splice	c.e3+1	p.T27_splice	EFEMP1_uc002rzj.3_Splice_Site_p.T27_splice|EFEMP1_uc010ypc.2_Splice_Site	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	27	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACCCCTTACCGTGTACGTGA	0.443000														71			9		0	0	0.006214	0	0
C14orf102	55051	broad.mit.edu	37	14	90754980	90754980	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:90754980G>A	uc001xyi.2	-	10	2972	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	C14orf102_uc010atp.1_Silent_p.F418F|C14orf102_uc001xyj.2_Silent_p.F682F	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	913							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TCAAATACTGGAAGAGCATGA	0.507000														34			4		0	0	0.001168	0	0
GRM8	2918	broad.mit.edu	37	7	126882983	126882983	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:126882983G>A	uc003vlr.2	-	0	587	c.276C>T	c.(274-276)ctC>ctT	p.L92L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L92L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	92					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)	TGTTGGAAAGGAGATCAGGGT	0.502000										HNSCC(24;0.065)				24			5		0	0	0.001168	0	0
TSPAN2	10100	broad.mit.edu	37	1	115600175	115600175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:115600175C>T	uc001eft.3	-	5	567	c.499G>A	c.(499-501)Gag>Aag	p.E167K	TSPAN2_uc021osc.1_Missense_Mutation_p.E167K	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	167						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTAGAAGCTCCTTTGGGCAT	0.483000														211			15		0	0	0.004007	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451237	44451238	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44451237_44451238CC>TT	uc010okl.2	+	5	1075_1076	c.999_1000CC>TT	c.(997-1002)ggccgc>ggTTgc	p.R334C	B4GALT2_uc001clg.3_Missense_Mutation_p.R305C|B4GALT2_uc001clh.3_Missense_Mutation_p.R239C|B4GALT2_uc001cli.3_Missense_Mutation_p.R305C	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	305					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TCCGAATCGGCCGCTACCGCAT	0.589000														54			8		0	0	0.004672	0	0
BMS1	9790	broad.mit.edu	37	10	43312814	43312814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:43312814G>A	uc001jaj.3	+	14	2810	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	818					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCCGACGAAGAAGAAAGTGC	0.318000														12			6		0	0	0.001168	0	0
CACNA2D1	781	broad.mit.edu	37	7	81765956	81765956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:81765956G>A	uc003uhr.1	-	4	647	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	131						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)	CTCACATCGAGATCATCCTTT	0.259000														17			4		0	0	0.001168	0	0
PRH1	5554	broad.mit.edu	37	12	11034873	11034873	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11034873G>A	uc021qvf.1	-	3	520	c.462C>T	c.(460-462)ggC>ggT	p.G154G	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 1 (PRH1), mRNA.	154						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CTTGTGGGCGGCCCCCTTGGG	0.582000														113			11		0	0	0.003163	0	0
ABCA12	26154	broad.mit.edu	37	2	215851397	215851397	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:215851397G>A	uc002vew.3	-	27	4252	c.4032C>T	c.(4030-4032)gtC>gtT	p.V1344V	ABCA12_uc002vev.3_Silent_p.V1026V|ABCA12_uc010zjn.2_Silent_p.V271V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1344					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGCAACCCCGACTGTGAGAT	0.428000														42			13		0	0	0.001855	0	0
IDS	3423	broad.mit.edu	37	X	148579787	148579787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:148579787C>T	uc011mxe.2	-	4	776	c.559G>A	c.(559-561)Gat>Aat	p.D187N	IDS_uc011mxf.2_Missense_Mutation_p.D97N|IDS_uc011mxg.2_5'UTR|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_5'UTR|IDS_uc011mxh.2_Missense_Mutation_p.D187N|IDS_uc011mxi.2_Non-coding_Transcript	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	187						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCAGCACATCCACAGGGCAA	0.453000														11			9		0	0	0.006214	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089206	220089206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:220089206G>A	uc001hlw.3	-	3	1254	c.1043C>T	c.(1042-1044)aCc>aTc	p.T348I	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.T103I|SLC30A10_uc001hlx.3_Missense_Mutation_p.T123I	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	348					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GATGTGCAGGGTGGCAATAAT	0.448000														79			13		0	0	0.001855	0	0
P2RX1	5023	broad.mit.edu	37	17	3802950	3802950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3802950G>A	uc002fww.3	-	7	1294	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	285					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CCTGGGGAGAGATTTTTCTCT	0.552000														28			4		0	0	0.009096	0	0
SLC25A18	83733	broad.mit.edu	37	22	18066228	18066228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:18066228G>A	uc002zmp.1	+	6	831	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	SLC25A18_uc010gqx.3_Missense_Mutation_p.G113R|SLC25A18_uc002zmq.1_Missense_Mutation_p.G113R	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	113						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)	GTGTGGGGCTGGGATGTGCCA	0.622000														74			8		0	0	0.003080	0	0
TMEM201	199953	broad.mit.edu	37	1	9661392	9661392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:9661392C>T	uc021ofy.1	+	4	893	c.836C>T	c.(835-837)cCc>cTc	p.P279L	TMEM201_uc001apy.3_Missense_Mutation_p.P279L|TMEM201_uc021ofz.1_Missense_Mutation_p.P120L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	279						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCTACTCCCCGAGCACATG	0.682000														78			14		0	0	0.003163	0	0
NLRX1	79671	broad.mit.edu	37	11	119053011	119053011	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:119053011C>T	uc001pvu.3	+	8	2778	c.2563C>T	c.(2563-2565)Ctg>Ttg	p.L855L	NLRX1_uc001pvv.3_Silent_p.L855L|NLRX1_uc001pvw.3_Silent_p.L855L|NLRX1_uc001pvx.3_Silent_p.L855L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	855	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCCCTGGCCCTGGCCAGAGC	0.657000														41			13		0	0	0.002450	0	0
DUOX1	53905	broad.mit.edu	37	15	45431636	45431636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:45431636G>A	uc001zus.1	+	12	1574	c.1228G>A	c.(1228-1230)Ggg>Agg	p.G410R	DUOX1_uc001zut.1_Missense_Mutation_p.G410R|DUOX1_uc010bee.1_Intron	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	410	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTCTGGCCTGGGCCACTGAA	0.642000														92			17		0	0	0.004990	0	0
abParts	0	broad.mit.edu	37	22	22681955	22681955	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:22681955C>T	uc021wml.1	+	38		c.4031C>T								Parts of antibodies, mostly variable regions.																		GGGAGCAGCTCCAACATTGGG	0.612000														111			57		0	0	0.014410	0	0
OR4K2	390431	broad.mit.edu	37	14	20345023	20345023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20345023G>A	uc001vwh.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	199					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)		GCCTCTTTATGATCTCAACAA	0.403000														290			29		0	0	0.005443	0	0
C21orf59	56683	broad.mit.edu	37	21	33954539	33954539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33954539G>A	uc002ypy.2	-	6	1314	c.949C>T	c.(949-951)Cca>Tca	p.P317S	C21orf59_uc002ypw.4_Missense_Mutation_p.P111S|C21orf59_uc002ypx.1_Missense_Mutation_p.P134S|C21orf59_uc002ypz.2_Missense_Mutation_p.P285S	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CCCGCGTGTGGGGACGCTGCA	0.498000														104			9		0	0	0.010729	0	0
CES4A	283848	broad.mit.edu	37	16	67039179	67039179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:67039179G>A	uc002eqv.3	+	9	1301	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	CES4A_uc010vix.2_Missense_Mutation_p.E400K|CES4A_uc002eqw.3_Missense_Mutation_p.E373K|CES4A_uc010viy.2_Missense_Mutation_p.E306K|CES4A_uc002eqx.3_Missense_Mutation_p.E206K|CES4A_uc002eqy.3_Missense_Mutation_p.E302K	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	400						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGTGGTGGAGGAGTACCTGGA	0.537000														65			5		0	0	0.001984	0	0
LTBP2	4053	broad.mit.edu	37	14	75016635	75016635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:75016635C>T	uc001xqa.3	-	7	2107	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	574	TB 1.				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)		CAGCAGTCCTCCTGGGTAGTC	0.617000														47			11		0	0	0.010729	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222354	134222354	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:134222354C>T	uc003vrr.3	+	6	1002	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	228					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGACCCTTCCCTGCTGGAGGA	0.468000														82			13		0	0	0.004007	0	0
CACNA1D	776	broad.mit.edu	37	3	53736765	53736765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:53736765G>A	uc003dgv.4	+	8	1481	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	CACNA1D_uc003dgu.4_Missense_Mutation_p.D440N|CACNA1D_uc003dgy.4_Missense_Mutation_p.D440N|CACNA1D_uc003dgw.4_Missense_Mutation_p.D87N	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	440	Binding to the beta subunit (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGGCTACTTGGATTGGATCAC	0.517000														21			4		0	0	0.009096	0	0
NLRP8	126205	broad.mit.edu	37	19	56487502	56487502	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56487502G>A	uc002qmh.3	+	7	2780	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	NLRP8_uc010etg.3_Silent_p.L884L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	903						cytoplasm	ATP binding	p.L903L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTGCAGACTGAGAAAGTGTG	0.358000														32			22		0	0	0.003330	0	0
GABRB3	2562	broad.mit.edu	37	15	26825523	26825523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:26825523G>A	uc001zbb.3	-	6	896	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	GABRB3_uc021sgg.1_Missense_Mutation_p.P138S|GABRB3_uc021sgh.1_Missense_Mutation_p.P124S|GABRB3_uc001zaz.3_Missense_Mutation_p.P209S|GABRB3_uc001zba.3_Missense_Mutation_p.P209S	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGAACTGCGGGAGCTCAATC	0.562000														61			10		0	0	0.006214	0	0
MYO9B	4650	broad.mit.edu	37	19	17308652	17308652	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:17308652C>T	uc010eak.3	+	22	4250	c.4098C>T	c.(4096-4098)tcC>tcT	p.S1366S	MYO9B_uc002nfi.3_Silent_p.S1366S|MYO9B_uc002nfj.1_Silent_p.S1366S|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1366	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCCTCCCGTCCCTGGCCAAGG	0.552000														53			8		0	0	0.013537	0	0
ADH1A	124	broad.mit.edu	37	4	100203562	100203562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100203562C>T	uc003hur.2	-	5	883	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_Missense_Mutation_p.E48K	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	257					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACC	0.463000														253			67		0	0	0.014410	0	0
HLX	3142	broad.mit.edu	37	1	221057551	221057551	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:221057551C>T	uc001hmv.4	+	3	1429	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	324					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGGTGTGGTTCCAGAACCGGC	0.632000														56			8		0	0	0.010729	0	0
LIPG	9388	broad.mit.edu	37	18	47101747	47101748	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47101747_47101748CC>TA	uc002ldv.3	+	4	832_833	c.580_581CC>TA	c.(580-582)cct>TAt	p.P194Y	LIPG_uc002ldu.1_Missense_Mutation_p.P194Y|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	194					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						AGGTTTGGATCCTGCCGGGCCC	0.554000														20			5		0	0	0.004672	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39085752	39085752	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39085752G>A	uc004abi.3	-	20	3662	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	CNTNAP3_uc004abj.3_Silent_p.L1060L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_3'UTR	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1141	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCCCAATATGAGAGATTTGA	0.408000														108			16		0	0	0.004990	0	0
LPA	4018	broad.mit.edu	37	6	160977125	160977125	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160977125C>T	uc003qtl.3	-	30	5025	c.4905G>A	c.(4903-4905)agG>agA	p.R1635R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4143	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G1634*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTGACATGTCCTTCCTGTGA	0.488000														53			14		0	0	0.004990	0	0
PSG2	5670	broad.mit.edu	37	19	43579707	43579707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43579707C>T	uc002ovr.3	-	2	680	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	170	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTCTCAGGATCACAGGTTAAG	0.517000														126			15		0	0	0.004990	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137867	63137867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:63137867G>A	uc001nww.3	+	0	607	c.339G>A	c.(337-339)atG>atA	p.M113I	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	113					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522000														40			9		0	0	0.006214	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154005	248154005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248154005G>A	uc001idv.1	+	0	437	c.193G>A	c.(193-195)Gga>Aga	p.G65R	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.									p.L65H(1)		lung(11)	11						GATGATAACAGGATCTTGGAT	0.443000														53			6		0	0	0.001168	0	0
ENC1	8507	broad.mit.edu	37	5	73931360	73931360	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:73931360G>A	uc003kdc.4	-	1	2082	c.951C>T	c.(949-951)gcC>gcT	p.A317A	ENC1_uc011css.2_Silent_p.A244A|ENC1_uc021yao.1_Silent_p.A317A	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	317					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGATTTCTTTGGCCTTCTGGT	0.527000														52			21		0	0	0.012319	0	0
COL6A6	131873	broad.mit.edu	37	3	130311933	130311933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:130311933G>A	uc010htl.3	+	14	4431	c.4400G>A	c.(4399-4401)gGa>gAa	p.G1467E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1467	Triple-helical region.				axon guidance|cell adhesion	collagen		p.G1467*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAATTGACGGATTAAACGGA	0.378000														191			23		0	0	0.006320	0	0
ABCC9	10060	broad.mit.edu	37	12	21970121	21970122	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21970121_21970122CC>TT	uc001rfh.3	-	31	3912	c.3892_splice	c.e31+1	p.D1298_splice	ABCC9_uc001rfi.1_Splice_Site_p.D1298_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1298					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D1298Y(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAGCAATACCCATTGTGCCTT	0.401000														131			12		0	0	0.004672	0	0
AKAP6	9472	broad.mit.edu	37	14	33293203	33293203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:33293203G>A	uc001wrq.3	+	12	6354	c.6184G>A	c.(6184-6186)Gaa>Aaa	p.E2062K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2062					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTTTGTTAAGGAAATCATTGA	0.398000														38			5		0	0	0.001168	0	0
PGS1	9489	broad.mit.edu	37	17	76395592	76395592	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76395592C>T	uc002jvm.3	+	4	687	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_5'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	225	PLD phosphodiesterase 1.				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGGTGTACCTCTTCGACAACA	0.592000														37			6		0	0	0.006214	0	0
VILL	50853	broad.mit.edu	37	3	38044690	38044690	+	Missense_Mutation	SNP	G	A	A	rs144181954		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38044690G>A	uc003chj.3	+	14	1977	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	VILL_uc003chl.3_Missense_Mutation_p.R564Q	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	564					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGATGGCACGGGTGGTGGTC	0.632000														39			4		0	0	0.009096	0	0
TPM2	7169	broad.mit.edu	37	9	35685461	35685461	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35685461G>A	uc003zxq.3	-	3	701	c.462C>T	c.(460-462)atC>atT	p.I154I	TPM2_uc003zxs.3_Silent_p.I154I|TPM2_uc010mkz.3_Silent_p.I154I|TPM2_uc011lpa.2_Silent_p.I154I	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	154					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AATCCTCAGCGATGTGCTTGG	0.552000														69			15		0	0	0.004007	0	0
BSN	8927	broad.mit.edu	37	3	49692777	49692777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49692777G>A	uc003cxe.4	+	4	5902	c.5788G>A	c.(5788-5790)Gat>Aat	p.D1930N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1930					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCATGGCAGATGCTGCCCC	0.662000														42			5		0	0	0.000602	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265954	3265954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:3265954C>T	uc010uwv.2	+	0	393	c.245C>T	c.(244-246)gCt>gTt	p.A82V						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		TTCCTCCTGGCTGTGATGGCC	0.512000														40			4		0	0	0.000602	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433980	72433980	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:72433980T>A	uc004ebi.3	-	0	731	c.349A>T	c.(349-351)Aag>Tag	p.K117*		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	117					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTTTGAAGCTTTTTAAGGGCT	0.388000														21			12		0	0	0.010729	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672695	77672695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:77672695G>A	uc021rks.1	-	55	8861	c.8594C>T	c.(8593-8595)cCt>cTt	p.P2865L	MYCBP2_uc010aev.3_Missense_Mutation_p.P2231L|MYCBP2_uc001vkg.1_Missense_Mutation_p.P350L|MYCBP2_uc010aew.3_Missense_Mutation_p.P213L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACGTTCCCGAGGAGGATCAAG	0.473000														62			6		0	0	0.001984	0	0
GNB3	2784	broad.mit.edu	37	12	6953089	6953089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:6953089G>A	uc001qrd.3	+	8	1051	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	GNB3_uc001qrc.3_Missense_Mutation_p.G172R|GNB3_uc009zfe.3_Missense_Mutation_p.G215R	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	216					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGTGCGAGAGGGGACCTGCCG	0.592000														47			5		0	0	0.000602	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853186	35853186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:35853186G>A	uc003zyo.3	+	11	2303	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TMEM8B_uc003zym.3_Missense_Mutation_p.D339N	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	339					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	p.D339H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTGCAGCTTGACCGACATGG	0.602000														92			16		0	0	0.004990	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958437	57958437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57958437C>T	uc010rka.2	+	0	532	c.475C>T	c.(475-477)Cga>Tga	p.R159*		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGCCTTTGTTCGAACGGTCAC	0.507000														29			8		0	0	0.004482	0	0
FLAD1	80308	broad.mit.edu	37	1	154962903	154962903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154962903C>T	uc001fgf.2	+	4	1854	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	FLAD1_uc001fgd.2_3'UTR|FLAD1_uc001fge.2_Missense_Mutation_p.L388F|FLAD1_uc001fgg.2_Missense_Mutation_p.L388F|FLAD1_uc001fgh.1_Intron	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	485	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGCTGTCCTTATGGGCAC	0.602000														39			7		0	0	0.001984	0	0
PCK1	5105	broad.mit.edu	37	20	56137864	56137864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:56137864G>A	uc002xyn.4	+	3	682	c.519G>A	c.(517-519)atG>atA	p.M173I	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	173					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGCGGATCATGACGCGGATGG	0.587000														26			5		0	0	0.001984	0	0
TGM2	7052	broad.mit.edu	37	20	36776477	36776477	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36776477G>A	uc002xhr.3	-	4	667	c.567C>T	c.(565-567)atC>atT	p.I189I	TGM2_uc010zvx.2_Silent_p.I108I|TGM2_uc010zvy.2_Silent_p.I129I|TGM2_uc002xhs.1_Silent_p.I165I|TGM2_uc002xht.3_Silent_p.I189I|TGM2_uc002xhu.3_Silent_p.I189I	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	189					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGATGTCTAGGATCCCATCTT	0.587000														75			7		0	0	0.001984	0	0
OR1B1	347169	broad.mit.edu	37	9	125391313	125391313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125391313G>A	uc011lyz.2	-	0	502	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	168					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						GTCCAGCAAAGAGGCAGGACG	0.527000														22			3		0	0	0.004672	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018773	14018773	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:14018773G>A	uc001rbt.2	-	1	549	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	124					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)	TGGATGCCCAGGATGGGGGTG	0.547000														133			16		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215316	140215316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140215316G>A	uc003lhq.2	+	0	1348	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	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_Missense_Mutation_p.D450N	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	464	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)			CGACGTGAACGACAACGCCCC	0.667000														50			8		0	0	0.003080	0	0
IL28RA	163702	broad.mit.edu	37	1	24484345	24484345	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:24484345G>A	uc001bis.3	-	6	865	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	IL28RA_uc001bir.3_Intron|IL28RA_uc001bit.3_Missense_Mutation_p.S236L|IL28RA_uc001biu.3_Nonsense_Mutation_p.Q196*	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	280					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)		CTGCTGGGCTGAAAGGTTGCC	0.522000														96			12		0	0	0.001855	0	0
CRIM1	51232	broad.mit.edu	37	2	36740748	36740748	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:36740748C>T	uc002rpd.3	+	10	1896	c.1830C>T	c.(1828-1830)acC>acT	p.T610T		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	610	VWFC 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTTGTCTCACCGTGGATGGTC	0.552000														79			6		0	0	0.003080	0	0
RBP3	5949	broad.mit.edu	37	10	48390628	48390628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48390628C>T	uc001jez.3	-	0	364	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	84	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.D84N(4)		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)	AGGCGAGGATCGTTCAGGGAG	0.617000														61			8		0	0	0.006214	0	0
TWSG1	57045	broad.mit.edu	37	18	9396351	9396351	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:9396351G>A	uc002knz.3	+	3	488	c.297G>A	c.(295-297)ccG>ccA	p.P99P	TWSG1_uc002koa.3_Silent_p.P24P	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	99										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGCATGAACCGATCCCTTCTC	0.443000														54			6		0	0	0.001168	0	0
SEC16A	9919	broad.mit.edu	37	9	139372053	139372053	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139372053G>A	uc004chx.3	-	2	324	c.15C>T	c.(13-15)ccC>ccT	p.P5P	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Silent_p.P5P|SEC16A_uc010nbn.3_Silent_p.P5P|SEC16A_uc010nbo.1_Silent_p.P5P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1979					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGACCGTCTGGGGCGGTGGCT	0.547000														10			3		0	0	0.004672	0	0
ANLN	54443	broad.mit.edu	37	7	36446171	36446171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:36446171C>T	uc003tff.3	+	3	1073	c.869C>T	c.(868-870)tCt>tTt	p.S290F	ANLN_uc011kaz.2_Missense_Mutation_p.S202F|ANLN_uc003tfg.3_Missense_Mutation_p.S290F|ANLN_uc010kxe.3_Missense_Mutation_p.S290F	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	290	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATTTCCAGCTCTGTGGTAAGT	0.428000														165			10		0	0	0.010729	0	0
TMEM159	57146	broad.mit.edu	37	16	21181780	21181780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21181780C>T	uc010vbf.2	+	3	445	c.191C>T	c.(190-192)cCa>cTa	p.P64L	TMEM159_uc002dih.4_Missense_Mutation_p.P40L|TMEM159_uc002dif.4_Missense_Mutation_p.P40L|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	40						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		ATGAAGTCTCCAGTGGGTCAG	0.522000														142			17		0	0	0.014323	0	0
CAMK2D	817	broad.mit.edu	37	4	114452437	114452437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:114452437C>T	uc003ibi.3	-	7	1395	c.536G>A	c.(535-537)gGa>gAa	p.G179E	CAMK2D_uc003ibj.3_Missense_Mutation_p.G179E|CAMK2D_uc003ibk.3_Missense_Mutation_p.G179E|CAMK2D_uc003ibo.4_Missense_Mutation_p.G179E|CAMK2D_uc003ibm.2_Missense_Mutation_p.G179E|CAMK2D_uc003ibn.2_Missense_Mutation_p.G179E|CAMK2D_uc003ibl.2_Missense_Mutation_p.G179E	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	179	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGAAAGATATCCAGGTGTGCC	0.358000														15			6		0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447558	110447558	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110447558C>T	uc003yne.3	+	28	3584	c.3480C>T	c.(3478-3480)atC>atT	p.I1160I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1160	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCACATATCTGGCCTGATT	0.433000										HNSCC(38;0.096)				170			18		0	0	0.002780	0	0
MAP2	4133	broad.mit.edu	37	2	210557907	210557907	+	Missense_Mutation	SNP	C	T	T	rs144486691		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:210557907C>T	uc002vde.1	+	6	1261	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	MAP2_uc002vdc.1_Missense_Mutation_p.S338L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S334L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	338					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACAGAAACATCGCCCTTTGCC	0.438000														36			5		0	0	0.001168	0	0
GPR20	2843	broad.mit.edu	37	8	142367810	142367810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:142367810C>T	uc022bby.1	-	0	214	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	GPR20_uc003ywf.3_Missense_Mutation_p.G72R	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	72						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGCGCCAGCCCGTTGAGCACC	0.647000														24			10		0	0	0.006214	0	0
SLC13A4	26266	broad.mit.edu	37	7	135366410	135366410	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:135366410C>T	uc003vtb.3	-	15	2474	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	SLC13A4_uc003vta.3_Silent_p.V594V|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	594						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CCATTACTATCACCAGTCCAA	0.542000														26			9		0	0	0.004482	0	0
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248059536C>T	uc010pzb.2	+	0	648	c.648C>T	c.(646-648)ctC>ctT	p.L216L	OR2W3_uc001idp.1_Silent_p.L216L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L215L(1)		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)			TTATCCTGCTCTCTTACAGCT	0.582000														99			11		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9060102	9060102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9060102G>A	uc002mkp.3	-	2	27548	c.27344C>T	c.(27343-27345)tCa>tTa	p.S9115L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9117	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						CTGTGAGTGTGAAAATCCTTG	0.498000														38			5		0	0	0.001984	0	0
EVPL	2125	broad.mit.edu	37	17	74004797	74004797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74004797G>A	uc010wss.1	-	21	4783	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	EVPL_uc002jqi.2_Missense_Mutation_p.R1497W|EVPL_uc010wst.1_Missense_Mutation_p.R967W	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTGCACTCCCGATTCAGCTCG	0.582000														81			27		0	0	0.008361	0	0
ESRRB	2103	broad.mit.edu	37	14	76928939	76928939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:76928939G>A	uc001xsr.3	+	4	820	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.R150Q	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R150Q(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATCACCAAACGGAGGCGCAAG	0.617000														82			7		0	0	0.001984	0	0
ATP10D	57205	broad.mit.edu	37	4	47593145	47593145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47593145G>A	uc003gxk.1	+	22	4192	c.4028G>A	c.(4027-4029)aGg>aAg	p.R1343K	ATP10D_uc003gxl.1_Missense_Mutation_p.R591K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1343					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAGAGGAGAGGACTAAAGCT	0.458000														69			9		0	0	0.004482	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138574	126138574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:126138574C>T	uc001uhe.1	+	8	2563	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F	TMEM132B_uc001uhf.1_Missense_Mutation_p.S364F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	852						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCCCCCAGTCTCCCATGGAA	0.522000														22			5		0	0	0.000602	0	0
X06774	0	broad.mit.edu	37	7	38370155	38370155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38370155G>A	uc010kxj.1	-	1	279	c.143C>T	c.(142-144)gCc>gTc	p.A48V	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		GGTGTAGACGGCATTTTCTAC	0.502000														46			7		0	0	0.003080	0	0
ST18	9705	broad.mit.edu	37	8	53084431	53084431	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:53084431G>A	uc003xqz.2	-	4	1146	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.F295F|ST18_uc011lds.1_Silent_p.F235F|ST18_uc003xra.2_Silent_p.F330F|ST18_uc003xrb.2_Silent_p.F330F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	330						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTCCAGCAGGAACCTATCCA	0.448000														78			9		0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179594516	179594516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179594516G>A	uc021vsy.1	-	59	14957	c.14732C>T	c.(14731-14733)tCc>tTc	p.S4911F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1572F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5838	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4911F(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)			ATCAATGAAGGAAATGCCATG	0.443000														58			9		0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8499749	8499749	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:8499749C>T	uc003zkk.3	-	24	2963	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	740	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K739Q(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGGCCATGCTGTTTATTGG	0.507000										TSP Lung(15;0.13)				70			8		0	0	0.008291	0	0
NLRP2	55655	broad.mit.edu	37	19	55494640	55494640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55494640G>A	uc021vbq.1	+	5	1685	c.1574G>A	c.(1573-1575)aGg>aAg	p.R525K	NLRP2_uc010yfp.2_Missense_Mutation_p.R502K|NLRP2_uc002qij.3_Missense_Mutation_p.R525K|NLRP2_uc010esp.3_Missense_Mutation_p.R503K|NLRP2_uc010esn.3_Missense_Mutation_p.R501K|NLRP2_uc010eso.3_Missense_Mutation_p.R522K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	525	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGAGGATAGGGACGGCCAC	0.547000														57			8		0	0	0.004482	0	0
GPR115	221393	broad.mit.edu	37	6	47682166	47682166	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47682166G>A	uc003oyz.1	+	6	1356	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	GPR115_uc003oza.1_Silent_p.S395S|GPR115_uc003ozb.1_Silent_p.S395S|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	395					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S395S(1)		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						CCTCCAAATCGATGACCGACA	0.473000														23			4		0	0	0.009096	0	0
NUAK1	9891	broad.mit.edu	37	12	106461652	106461652	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:106461652C>T	uc001tlj.1	-	6	2294	c.914G>A	c.(913-915)tGg>tAg	p.W305*		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	305	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCAGTTCACCCACCAGTGGTT	0.567000														25			7		0	0	0.001984	0	0
AMPD1	270	broad.mit.edu	37	1	115238086	115238086	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:115238086G>A	uc001efe.2	-	0	154	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	AMPD1_uc001eff.2_Silent_p.L36L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	3					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGTTTGAACAGAGGCATTGTT	0.398000														150			12		0	0	0.002450	0	0
ABCA4	24	broad.mit.edu	37	1	94471041	94471042	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94471041_94471042GG>AA	uc001dqh.3	-	43	6206_6207	c.6102_6103CC>TT	c.(6100-6105)tacctt>taTTtt	p.L2035F	ABCA4_uc001dqi.1_Missense_Mutation_p.L154F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2035	ABC transporter 2.		L -> P (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGCATAAAGGTAAAGATGTT	0.416000														77			6		0	0	0.004672	0	0
CDAN1	146059	broad.mit.edu	37	15	43019896	43019897	+	Missense_Mutation	DNP	GG	AA	AA	rs142276684		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43019896_43019897GG>AA	uc001zql.3	-	22	3135_3136	c.3018_3019CC>TT	c.(3016-3021)gcccgg>gcTTgg	p.R1007W	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.R333W	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	1007						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGCTCCCCCCGGGCAGCAGGTT	0.624000														23			6		0	0	0.004672	0	0
FAM123A	219287	broad.mit.edu	37	13	25743771	25743772	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25743771_25743772CC>TT	uc001uqb.3	-	0	2086_2087	c.1986_1987GG>AA	c.(1984-1989)acggcc>acAAcc	p.A663T	FAM123A_uc001uqa.3_Missense_Mutation_p.A544T|FAM123A_uc001uqc.3_Missense_Mutation_p.A544T	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	663										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCGTGGCAGGCCGTTGCTCTGA	0.550000														51			5		0	0	0.004672	0	0
RAD23B	5887	broad.mit.edu	37	9	110086240	110086240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:110086240C>T	uc004bde.3	+	7	1281	c.887C>T	c.(886-888)cCt>cTt	p.P296L	RAD23B_uc011lwa.2_Missense_Mutation_p.P296L|RAD23B_uc022blj.1_Missense_Mutation_p.P224L|RAD23B_uc011lwb.2_Missense_Mutation_p.P275L	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	296	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGCAGAATCCTTCCTTGCTT	0.378000								Direct reversal of damage;Nucleotide excision repair (NER)						83			5		0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158590058	158590058	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158590058G>A	uc001fst.1	-	43	6518	c.6319C>T	c.(6319-6321)Cag>Tag	p.Q2107*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2107					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)					TTAATCTGCTGGTCTAGCTCC	0.507000														64			5		0	0	0.001168	0	0
LPL	4023	broad.mit.edu	37	8	19805839	19805839	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:19805839C>T	uc003wzk.4	+	1	607	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	79					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TCATGGTGATCCATGGCTGGA	0.552000														25			14		0	0	0.001855	0	0
XKR3	150165	broad.mit.edu	37	22	17280726	17280726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:17280726G>A	uc002zlv.3	-	2	622	c.524C>T	c.(523-525)tCt>tTt	p.S175F	XKR3_uc011agf.2_Missense_Mutation_p.S175F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	175						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTGTGGAACAGAACCGAGAAA	0.403000														90			34		0	0	0.012213	0	0
LOC649330	649330	broad.mit.edu	37	1	12907509	12907509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12907509C>T	uc010obf.2	-	1	860	c.634G>A	c.(634-636)Gag>Aag	p.E212K	LOC649330_uc009vno.2_Missense_Mutation_p.E212K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	212							nucleic acid binding|nucleotide binding										ACCTCTACCTCTTGTTTGCTC	0.448000														98			10		0	0	0.013537	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476213	161476213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161476213C>T	uc001gan.3	+	2	249	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	FCGR2A_uc001gam.3_Missense_Mutation_p.R65C|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	66	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity	p.R65H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	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)	CCAGGGGGCTCGCAGCCCTGA	0.587000														48			13		0	0	0.013537	0	0
C2orf16	84226	broad.mit.edu	37	2	27799493	27799493	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27799493T>C	uc002rkz.4	+	0	105	c.54T>C	c.(52-54)acT>acC	p.T18T		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	18										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)					AAGAGTTGACTTCAGGATGGC	0.433000														19			8		0	0	0.004482	0	0
FURIN	5045	broad.mit.edu	37	15	91419063	91419063	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91419063C>T	uc002bpu.1	+	1	309	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	31					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGTCTTCACCAACACGTGGG	0.627000														139			20		0	0	0.012319	0	0
CPXM2	119587	broad.mit.edu	37	10	125528156	125528156	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125528156G>A	uc001lhk.1	-	8	1510	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	395					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)		CCTGACACACGAACTGCACCA	0.627000														83			14		0	0	0.006122	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594785	64594785	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64594785G>A	uc001obs.4	-	32	4236	c.4236C>T	c.(4234-4236)ttC>ttT	p.F1412F		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1412					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						CCGACACGCGGAAAAAGAAGC	0.667000														48			5		0	0	0.000602	0	0
PALMD	54873	broad.mit.edu	37	1	100152287	100152287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:100152287G>A	uc001dsg.3	+	3	750	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	103					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)		CTCAACGAAGGAAGAGGCCAT	0.338000														126			11		0	0	0.010729	0	0
TARBP1	6894	broad.mit.edu	37	1	234565931	234565932	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234565931_234565932GG>AA	uc001hwd.3	-	14	2510_2511	c.2510_2511CC>TT	c.(2509-2511)ccc>cTT	p.P837L		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	837					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	p.G836V(1)		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)			AGCTTTCCAGGGGCCCAGCATG	0.569000														133			7		0	0	0.004672	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53770583C>T	uc010ydu.2	-	0	336	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(2)		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)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)				17			4		0	0	0.000602	0	0
CAV1	857	broad.mit.edu	37	7	116199076	116199076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:116199076C>T	uc003vif.2	+	2	550	c.272C>T	c.(271-273)aCc>aTc	p.T91I	CAV1_uc010lke.2_Missense_Mutation_p.T60I|CAV1_uc010lkd.2_Missense_Mutation_p.T60I|CAV1_uc003vig.2_Missense_Mutation_p.T60I|CAV1_uc003vih.3_Missense_Mutation_p.T60I|CAV1_uc010lkf.2_Missense_Mutation_p.T60I	NM_001753	NP_001166368	Q03135	CAV1_HUMAN	Homo sapiens caveolin 1, caveolae protein, 22kDa (CAV1), transcript variant 1, mRNA.	91					T cell costimulation|blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|triglyceride metabolic process|vasculogenesis|vesicle organization	Golgi membrane|apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			AGCTTCACCACCTTCACTGTG	0.473000														19			8		0	0	0.004482	0	0
CTSZ	1522	broad.mit.edu	37	20	57581453	57581453	+	Silent	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:57581453G>C	uc002yai.2	-	1	357	c.231C>G	c.(229-231)gcC>gcG	p.A77A	CTSZ_uc002yaj.4_Silent_p.A77A	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Homo sapiens cathepsin Z (CTSZ), mRNA.	77					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GGGTGATGCTGGCATAGTTGA	0.622000														43			4		0	0	0.009096	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610589	47610589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47610589G>A	uc001cqv.1	+	8	1220	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CYP4A22_uc009vyo.3_Missense_Mutation_p.G390E|CYP4A22_uc009vyp.3_Missense_Mutation_p.G292E	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	390						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGGCATTGGAAGAGAGCTC	0.572000														44			9		0	0	0.006214	0	0
FER1L6	654463	broad.mit.edu	37	8	125103772	125103772	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:125103772G>A	uc003yqw.3	+	33	4706	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1500						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAAATACAGATAGGAAACC	0.443000														43			11		0	0	0.008291	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				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.R379C(2)		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)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				32			4		0	0	0.001168	0	0
SFTPB	6439	broad.mit.edu	37	2	85894825	85894825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:85894825C>T	uc002sqj.3	-	2	308	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	SFTPB_uc002sqi.3_Missense_Mutation_p.E70K|SFTPB_uc002sqh.3_Missense_Mutation_p.E70K	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	58	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CCCCAGACTTCCTGTAGGCAA	0.607000														118			13		0	0	0.003163	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554534	140554534	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140554534C>T	uc003lit.3	+	0	2292	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	706					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F706F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.692000														214			18		0	0	0.012319	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629807	32629807	+	Missense_Mutation	SNP	C	T	T	rs9273943		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:32629807C>T	uc021yvz.1	-	2	680	c.598G>A	c.(598-600)Gga>Aga	p.G200R	HLA-DQB1_uc010juc.2_Missense_Mutation_p.G155R|HLA-DQB1_uc003obw.3_Missense_Mutation_p.G200R|HLA-DQB1_uc011dqd.2_Missense_Mutation_p.G200R|HLA-DQB1_uc011dqe.2_3'UTR	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	200	Beta-2.|Ig-like C1-type.		GD -> A (in allele DQB1*03:09).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity	p.R199H(1)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGACATCTCCACGCTGGGGA	0.567000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					66			9		0	0	0.004482	0	0
KCNH1	3756	broad.mit.edu	37	1	210948780	210948781	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:210948780_210948781CC>TT	uc001hib.2	-	9	2191_2192	c.2021_2022GG>AA	c.(2020-2022)cgg>cAA	p.R674Q	KCNH1_uc001hic.2_Missense_Mutation_p.R647Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	674	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGGCATCCCGCTTGATCAC	0.525000														47			6		0	0	0.004672	0	0
ELAC2	60528	broad.mit.edu	37	17	12901800	12901800	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12901800G>A	uc002gnz.4	-	15	1566	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.I111I|ELAC2_uc002gnx.4_Silent_p.I243I|ELAC2_uc010vvo.2_Silent_p.I281I|ELAC2_uc010vvp.2_Silent_p.I464I|ELAC2_uc010vvq.2_Silent_p.I482I|ELAC2_uc010vvr.2_Silent_p.I443I	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	483					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CAAGGAAGATGATTTCTGGGT	0.458000														30			7		0	0	0.004482	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420422	69420422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:69420422G>A	uc004afn.3	+	12	1424	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	438										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAGAGCATGATAGGTAAGC	0.378000														138			8		0	0	0.010729	0	0
OR8G1	26494	broad.mit.edu	37	11	124120593	124120593	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124120593C>T	uc001pzx.3	+	0	171	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	57					sensory perception of smell	integral to membrane|plasma 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;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		ACCTGCACACCCCTATGTACT	0.493000														55			12		0	0	0.013537	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729768	37729769	+	Missense_Mutation	DNP	CC	TT	TT	rs148745763	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:37729768_37729769CC>TT	uc003xkm.2	-	3	2607_2608	c.2551_2552GG>AA	c.(2551-2553)gga>AAa	p.G851K	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.G180K|RAB11FIP1_uc003xko.1_Missense_Mutation_p.G180K|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	851					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.G851R(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGAGGCTCTCCGTCAGACGCG	0.639000														33			5		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179594268	179594268	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179594268C>T	uc021vsy.1	-	60	15108	c.14883G>A	c.(14881-14883)ctG>ctA	p.L4961L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1622L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5888	Ig-like 30.						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)			CCACAGGCTTCAGCTCTCTGA	0.463000														61			10		0	0	0.010729	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919242	21919242	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21919242G>A	uc001rff.3	-	2	1028	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	230						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTGTTTTCTTGACCACCTGGA	0.493000														72			14		0	0	0.003163	0	0
RIPK3	11035	broad.mit.edu	37	14	24808479	24808479	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24808479G>A	uc001wpb.3	-	2	423	c.213C>T	c.(211-213)ttC>ttT	p.F71F	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Silent_p.F71F	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	71	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGCGCAGCACGAATTCGTTAT	0.567000														77			9		0	0	0.008291	0	0
ABCC6	368	broad.mit.edu	37	16	16302666	16302666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:16302666G>A	uc002den.4	-	6	750	c.713C>T	c.(712-714)tCg>tTg	p.S238L	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.S250L	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	238					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCTCCCAAGCGACCAGAGGTC	0.557000														30			4		0	0	0.001168	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110216	37110216	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:37110216C>T	uc001zjg.4	-	0		c.492G>A								Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA.																		ACTACCACTTCTTCACCGTTG	0.502000														30			7		0	0	0.001984	0	0
PAPPA	5069	broad.mit.edu	37	9	118950190	118950190	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:118950190C>T	uc004bjn.3	+	1	1554	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	PAPPA_uc011lxp.1_Silent_p.I184I|PAPPA_uc011lxq.2_Silent_p.I184I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	391	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AATACAACATCTCCTGGGAGC	0.562000														32			8		0	0	0.004482	0	0
CDH7	1005	broad.mit.edu	37	18	63489411	63489411	+	Silent	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:63489411A>T	uc002lkb.3	+	4	1146	c.720A>T	c.(718-720)ggA>ggT	p.G240G	CDH7_uc002ljz.3_Silent_p.G240G|CDH7_uc002lka.3_Silent_p.G240G	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTCAAAATGGAGGACTGTCAG	0.433000														20			4		0	0	0.009096	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481277	123481277	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:123481277G>A	uc001uej.1	-	10	1852	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PITPNM2_uc001uek.1_Silent_p.F551F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	551					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCTGCCCATTGAAGGTCATGC	0.637000														65			7		0	0	0.003080	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202400826	202400826	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:202400826A>G	uc002uyf.3	-	12	1476	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	ALS2CR11_uc002uye.3_Missense_Mutation_p.M475T|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Missense_Mutation_p.M475T	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	475										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TACATTTTTCATTTTTCTGTC	0.343000														70			10		0	0	0.006214	0	0
TREML4	285852	broad.mit.edu	37	6	41204226	41204226	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41204226A>C	uc003oqc.3	+	4	613	c.509A>C	c.(508-510)aAa>aCa	p.K170T	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	170						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCTGCAGGAAATCAAGAGCC	0.602000														34			4		0	0	0.000602	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38483257	38483257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:38483257G>A	uc003auw.3	-	10	1277	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	BAIAP2L2_uc003auv.3_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	378	SH3.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GTACGCCTCGGGGAACCAACC	0.602000														33			8		0	0	0.008291	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024766	176024766	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:176024766G>A	uc003meo.1	-	1	2245	c.2070C>T	c.(2068-2070)tcC>tcT	p.S690S	GPRIN1_uc021yif.1_Silent_p.S690S	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	690						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|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)			CTTTCCCCAGGGACACAGGCT	0.577000														28			6		0	0	0.001984	0	0
DNER	92737	broad.mit.edu	37	2	230411772	230411772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:230411772G>A	uc002vpv.3	-	4	1031	c.884C>T	c.(883-885)gCt>gTt	p.A295V	DNER_uc010zly.1_Missense_Mutation_p.A23V	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	295					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TAAGCGCAAAGCCACAATAGA	0.443000														54			18		0	0	0.004990	0	0
FGD6	55785	broad.mit.edu	37	12	95604123	95604123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:95604123G>A	uc001tdp.4	-	1	1161	c.937C>T	c.(937-939)Cca>Tca	p.P313S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	313					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGAGTTGGAAATTTTGGG	0.413000														93			12		0	0	0.002450	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361159	5361159	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:5361159G>A	uc003zjc.3	-	4	522	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	PLGRKT_uc003zjd.3_Silent_p.L81L	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	Homo sapiens chromosome 9 open reading frame 46 (C9orf46), mRNA.	81						integral to membrane											ATCGGGACCAGGAAGGCTGGC	0.343000														43			4		0	0	0.009096	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310847	178310847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:178310847C>T	uc003mjl.3	+	4	1620	c.1394C>T	c.(1393-1395)cCa>cTa	p.P465L	ZNF354B_uc003mjm.3_Missense_Mutation_p.P465L	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGAAAAACCATGTAAATGT	0.373000														39			8		0	0	0.006214	0	0
INPP5B	3633	broad.mit.edu	37	1	38338742	38338742	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:38338742G>A	uc001ccf.1	-	12	1592	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	INPP5B_uc009vvk.1_Silent_p.L624L|INPP5B_uc001ccg.1_Silent_p.L683L	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	763					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAGTGCAGAACCAGAATG	0.443000														88			22		0	0	0.003330	0	0
RPH3A	22895	broad.mit.edu	37	12	113314656	113314656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:113314656G>A	uc010syl.2	+	12	1518	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	RPH3A_uc001ttz.3_Missense_Mutation_p.D386N|RPH3A_uc001tty.3_Missense_Mutation_p.D382N|RPH3A_uc009zwe.1_Missense_Mutation_p.D382N|RPH3A_uc010sym.2_Missense_Mutation_p.D337N|RPH3A_uc001tua.3_Missense_Mutation_p.D146N	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	386					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAACAGCTACGATTCGGATGA	0.587000														26			5		0	0	0.001168	0	0
TP73	7161	broad.mit.edu	37	1	3644768	3644768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3644768C>T	uc001akp.3	+	8	1171	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	TP73_uc021ofb.1_Missense_Mutation_p.T354M|TP73_uc021ofc.1_Missense_Mutation_p.T354M|TP73_uc021ofd.1_Missense_Mutation_p.T354M|TP73_uc021ofe.1_Missense_Mutation_p.T354M|TP73_uc021off.1_Missense_Mutation_p.T354M|TP73_uc010nzj.2_Missense_Mutation_p.T305M|TP73_uc021ofg.1_Missense_Mutation_p.T305M|TP73_uc021ofh.1_Missense_Mutation_p.T305M|TP73_uc021ofi.1_Missense_Mutation_p.T305M|TP73_uc001akr.3_Missense_Mutation_p.T305M|TP73_uc009vlk.2_Missense_Mutation_p.T305M|TP73_uc001aks.3_Missense_Mutation_p.T305M|TP73_uc010nzk.2_Missense_Mutation_p.T283M|TP73_uc010nzl.2_5'UTR	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	354	Interaction with HIPK2.|Oligomerization (Potential).				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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GACGAGGACACGTACTACCTT	0.677000														58			12		0	0	0.002450	0	0
CUL7	9820	broad.mit.edu	37	6	43018889	43018889	+	Silent	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:43018889G>T	uc003otq.3	-	3	1382	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	CUL7_uc011dvb.2_Silent_p.S434S|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	350					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACCTCCTGAAGGAGGGCTGAG	0.612000														85			10		2.27111e-07	2.35959e-07	0.013537	1	0
RYR2	6262	broad.mit.edu	37	1	237880638	237880638	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:237880638C>T	uc001hyl.1	+	71	10584	c.10464C>T	c.(10462-10464)ctC>ctT	p.L3488L	RYR2_uc010pxz.1_Silent_p.L443L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3488					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)			ACCAGGAGCTCATTGCTCTGG	0.493000														21			4		0	0	0.009096	0	0
SHANK3	85358	broad.mit.edu	37	22	51160692	51160692	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:51160692C>T	uc003bne.1	+	21	4479	c.4479C>T	c.(4477-4479)ccC>ccT	p.P1493P	SHANK3_uc003bnf.1_Silent_p.P940P	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1493										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGGGGACCCCGTGGAGAGCC	0.682000														31			7		0	0	0.003080	0	0
CCR5	1234	broad.mit.edu	37	3	46414630	46414630	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:46414630C>T	uc003cpo.4	+	2	359	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CCR5_uc010hjd.3_Silent_p.F79F|CCR5_uc021wxb.1_Silent_p.F79F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	79					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGTTTTTCCTTCTTACTG	0.483000														109			8		0	0	0.006214	0	0
FERMT2	10979	broad.mit.edu	37	14	53340905	53340905	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:53340905T>C	uc001xac.3	-	8	1324	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	FERMT2_uc001xad.3_Missense_Mutation_p.K380E|FERMT2_uc001xae.3_Missense_Mutation_p.K380E|FERMT2_uc001xaf.3_Missense_Mutation_p.K380E	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	380	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTGAAAACTTTAATGTAGTCA	0.299000														32			6		0	0	0.001984	0	0
ABCC12	94160	broad.mit.edu	37	16	48162523	48162523	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:48162523C>T	uc002efc.1	-	8	1708	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.K454K	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	454						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTGCAATTTCTTTGGGGTAC	0.498000														36			7		0	0	0.001984	0	0
CILP	8483	broad.mit.edu	37	15	65494342	65494342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65494342G>A	uc002aon.2	-	7	1235	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	352	Ig-like C2-type.				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						TAGAGGGAAGGATCCAGCAAT	0.542000														95			23		0	0	0.007291	0	0
DUSP26	78986	broad.mit.edu	37	8	33454892	33454892	+	Silent	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:33454892A>G	uc003xjp.3	-	1	475	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	DUSP26_uc003xjq.3_Silent_p.L48L	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	48						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGCCGCTCCAACTCGAAGACA	0.582000														29			5		0	0	0.000602	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306678	2306678	+	Silent	SNP	G	A	A	rs61910680	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2306678G>A	uc003gex.2	-	7	1709	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	ZFYVE28_uc011bvk.2_Silent_p.L393L|ZFYVE28_uc011bvl.2_Silent_p.L433L|ZFYVE28_uc003gew.2_Silent_p.L349L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	463					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCGGCCTCGAGATTGTTGT	0.697000														58			19		0	0	0.007413	0	0
IGFN1	91156	broad.mit.edu	37	1	201186547	201186547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201186547G>A	uc001gwc.3	+	16	9858	c.9728G>A	c.(9727-9729)gGg>gAg	p.G3243E	IGFN1_uc001gwb.3_Non-coding_Transcript	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						CGTAAGAAGGGGAGCAACACC	0.642000														44			7		0	0	0.001984	0	0
TEX12	56158	broad.mit.edu	37	11	112041209	112041210	+	Missense_Mutation	DNP	CC	TT	TT	rs12294058	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:112041209_112041210CC>TT	uc001pnc.3	+	2	263_264	c.131_132CC>TT	c.(130-132)tcc>tTT	p.S44F	TEX12_uc001pnd.3_Missense_Mutation_p.S44F	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN	Homo sapiens testis expressed 12 (TEX12), mRNA.	44										endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TCTGAAATTTCCGGACTATTTT	0.342000														37			11		0	0	0.004672	0	0
OR3A2	4995	broad.mit.edu	37	17	3181660	3181660	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3181660G>A	uc002fvg.3	-	0	609	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	190			L -> V (in dbSNP:rs9901356).		sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AGAGCTGTGGGAGGTCACAGT	0.547000														49			10		0	0	0.008291	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679217	176679217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176679217G>A	uc001gkz.3	+	10	4720	c.3556G>A	c.(3556-3558)Gga>Aga	p.G1186R	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1186					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						CACTCCCAAAGGATACTTGGA	0.463000														103			11		0	0	0.013537	0	0
FHL5	9457	broad.mit.edu	37	6	97051592	97051592	+	Missense_Mutation	SNP	C	T	T	rs138154376		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:97051592C>T	uc003pos.2	+	2	519	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FHL5_uc003pot.2_Missense_Mutation_p.R35C	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	35			R -> H (in dbSNP:rs35157931).			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)		ATGTTATGATCGTGTATTTTC	0.368000														64			9		0	0	0.006214	0	0
KRIT1	889	broad.mit.edu	37	7	91864731	91864731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:91864731G>A	uc003ulr.1	-	7	1607	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	KRIT1_uc010lev.1_Nonsense_Mutation_p.Q32*|KRIT1_uc003ulq.1_Nonsense_Mutation_p.Q239*|KRIT1_uc003uls.1_Nonsense_Mutation_p.Q239*|KRIT1_uc003ult.1_Nonsense_Mutation_p.Q239*|KRIT1_uc003ulu.1_Nonsense_Mutation_p.Q239*|KRIT1_uc003ulv.1_Nonsense_Mutation_p.Q239*	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	239					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTGTATACTGAAGATCTGAT	0.318000														56			12		0	0	0.010729	0	0
LIPF	8513	broad.mit.edu	37	10	90429633	90429633	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:90429633C>T	uc001kfg.2	+	4	576	c.462C>T	c.(460-462)atC>atT	p.I154I	LIPF_uc001kfh.2_Silent_p.I131I|LIPF_uc010qmt.2_Silent_p.I164I|LIPF_uc010qmu.2_Silent_p.I121I	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	154					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)		CAGCCACAATCGACTTCATTG	0.398000														119			12		0	0	0.002450	0	0
PLAA	9373	broad.mit.edu	37	9	26910388	26910388	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:26910388G>A	uc003zqd.3	-	11	2030	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PLAA_uc003zqe.2_Silent_p.F535F	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	535	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTTTTTTAGGGAAATAAATAT	0.318000														42			5		0	0	0.004482	0	0
DLK1	8788	broad.mit.edu	37	14	101200880	101200880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:101200880C>T	uc001yhs.4	+	4	1003	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	267					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCTGGCCTACCGCCTGACCCC	0.637000														33			5		0	0	0.000602	0	0
TAB1	10454	broad.mit.edu	37	22	39770347	39770347	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:39770347C>T	uc003axq.4	+	1	188	c.126C>T	c.(124-126)tcC>tcT	p.S42S	TAB1_uc003axo.4_Silent_p.S42S|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.S43S	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB 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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGTTCGGCTCCATCGTGAACG	0.657000														38			8		0	0	0.004482	0	0
ASTN1	460	broad.mit.edu	37	1	176903371	176903371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176903371C>T	uc001glc.3	-	15	2800	c.2588G>A	c.(2587-2589)gGc>gAc	p.G863D	ASTN1_uc001glb.1_Missense_Mutation_p.G863D|ASTN1_uc001gld.1_Missense_Mutation_p.G863D	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	871					cell migration|neuron cell-cell adhesion	integral to membrane		p.G863A(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCCTCAAAGCCGTAGATAGC	0.522000														47			6		0	0	0.001168	0	0
CCDC63	160762	broad.mit.edu	37	12	111317850	111317850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111317850G>A	uc001trv.1	+	5	825	c.630G>A	c.(628-630)atG>atA	p.M210I	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.M170I|CCDC63_uc001trw.1_Missense_Mutation_p.M125I	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	210										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAAAACCATGAACTTGGCCA	0.527000														112			9		0	0	0.008291	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160312	61160312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61160312C>T	uc002liz.4	+	4	693	c.551C>T	c.(550-552)cCt>cTt	p.P184L	SERPINB5_uc002liy.2_Missense_Mutation_p.P184L	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	184					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAAGAATGTCCTTTCAGAGTC	0.408000														49			5		0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755443	140755443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140755443C>T	uc003ljy.2	+	0	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	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_Missense_Mutation_p.S598L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	599	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)			GACAGAGACTCGGGCCAGAAC	0.711000														43			14		0	0	0.001855	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280501	32280501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32280501C>T	uc001bts.1	-	1	492	c.434G>A	c.(433-435)aGa>aAa	p.R145K	SPOCD1_uc001btu.3_Missense_Mutation_p.R145K|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	145					transcription, DNA-dependent			p.E144D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCCAGAGCTCTCTCTGGGAG	0.587000														76			9		0	0	0.008291	0	0
KRT17	3872	broad.mit.edu	37	17	39780691	39780691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39780691G>A	uc002hxh.2	-	0	192	c.71C>T	c.(70-72)tCg>tTg	p.S24L	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.S24L	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	24	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGTGCGGGACGAGCCGCCCCC	0.721000														9			7		0	0	0.003080	0	0
SMCR8	140775	broad.mit.edu	37	17	18219178	18219178	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:18219178C>T	uc002gsy.4	+	0	585	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	25										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGAGCCGGCCCTGCCTGAGG	0.522000														45			5		0	0	0.000602	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606378	116606378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:116606378C>T	uc001lcb.3	+	10	1794	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	FAM160B1_uc001lcc.3_Missense_Mutation_p.L487F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	487										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAGCACATTCTTTACAACTT	0.308000														38			8		0	0	0.003080	0	0
LAYN	143903	broad.mit.edu	37	11	111414911	111414911	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111414911T>C	uc001plr.1	+	2	709	c.373T>C	c.(373-375)Tat>Cat	p.Y125H	LAYN_uc001plp.1_Missense_Mutation_p.Y117H|LAYN_uc010rwg.1_Silent_p.F24F|LAYN_uc010rwh.2_5'UTR	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	125	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CCAGGACCTTTATGCTTGGAC	0.473000														18			9		0	0	0.006214	0	0
C15orf26	161502	broad.mit.edu	37	15	81428989	81428989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:81428989G>A	uc002bgb.3	+	2	319	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	C15orf26_uc010blp.1_Missense_Mutation_p.E73K	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	98								p.E98K(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GACTCCAGATGAAATTCAGTC	0.468000														63			7		0	0	0.001984	0	0
BLNK	29760	broad.mit.edu	37	10	97983593	97983593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:97983593G>A	uc001kls.4	-	5	692	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	BLNK_uc001kme.4_Missense_Mutation_p.L90F|BLNK_uc001klt.4_Missense_Mutation_p.L86F|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Missense_Mutation_p.L90F|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.L172F|BLNK_uc001kly.4_Missense_Mutation_p.L172F|BLNK_uc001klz.4_Intron|BLNK_uc001kma.4_Missense_Mutation_p.L172F|BLNK_uc001kmb.4_Intron|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.L90F|BLNK_uc009xvd.3_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	172	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCATCCTCAAGGAGGCCTTTG	0.592000														76			6		0	0	0.001168	0	0
EMR3	84658	broad.mit.edu	37	19	14769331	14769331	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:14769331C>T	uc002mzi.4	-	4	535	c.387G>A	c.(385-387)agG>agA	p.R129R	EMR3_uc010dzp.3_Silent_p.R77R|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.	129					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						TCACCTCTTTCCTGCCCTCGG	0.493000														56			5		0	0	0.001168	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866041	30866041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:30866041C>T	uc003ahy.3	-	3	288	c.199G>A	c.(199-201)Gat>Aat	p.D67N	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.D8N|SEC14L3_uc003aib.3_Missense_Mutation_p.D8N	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	67						integral to membrane|intracellular	lipid binding|transporter activity	p.D67V(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGGTCAATATCCATGGTCTTC	0.547000														139			22		0	0	0.002780	0	0
PCDH20	64881	broad.mit.edu	37	13	61986932	61986932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:61986932C>T	uc001vid.4	-	1	1664	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PCDH20_uc010thj.2_Missense_Mutation_p.E434K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	407	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E434*(1)|p.E407*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCATCTATCTCGTTTGCTATG	0.418000														73			6		0	0	0.001168	0	0
HIPK1	204851	broad.mit.edu	37	1	114499826	114499826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:114499826C>T	uc001eem.3	+	6	1834	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	HIPK1_uc001eel.3_Missense_Mutation_p.P558L|HIPK1_uc001een.3_Missense_Mutation_p.P558L|HIPK1_uc001eeo.3_Missense_Mutation_p.P184L|HIPK1_uc001eep.3_Missense_Mutation_p.P164L	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAAGAGTCCCTTCACTACA	0.388000														29			8		0	0	0.003080	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467048	25467048	+	Silent	SNP	G	A	A	rs147260180		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:25467048G>A	uc002rgc.3	-	14	2084	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	DNMT3A_uc002rgd.3_Silent_p.F609F|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Silent_p.F420F	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	609	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATTAGCGAAGAACATCT	0.627000			"""Mis, F, N, S"""		AML									42			9		0	0	0.008291	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701992	8701992	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8701992T>A	uc002glp.2	-	0	676	c.447A>T	c.(445-447)gaA>gaT	p.E149D		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	149						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGCCAGGCATTTCCACCTCTG	0.582000														72			8		0	0	0.004482	0	0
ACACB	32	broad.mit.edu	37	12	109625967	109625967	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:109625967C>T	uc001tob.3	+	13	2263	c.2144_splice	c.e13+1	p.S715_splice	ACACB_uc001toc.3_Splice_Site_p.S715_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	715	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAGGCCATTTCGTCAGTATCt	0.552000														37			5		0	0	0.001168	0	0
PRSS22	64063	broad.mit.edu	37	16	2903974	2903974	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2903974G>A	uc002cry.1	-	4	675	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	203	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTTCCGAGTCGATGATAGGAA	0.602000														87			15		0	0	0.003163	0	0
OR51E1	143503	broad.mit.edu	37	11	4674251	4674251	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4674251C>T	uc021qcq.1	+	0	495	c.495C>T	c.(493-495)ttC>ttT	p.F165F	OR51E1_uc001lzi.4_Silent_p.F165F	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCTGTCTTCATCAAGCAGC	0.552000														87			9		0	0	0.008291	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156711039	156711039	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:156711039C>T	uc003ipc.3	+	4	638	c.471C>T	c.(469-471)atC>atT	p.I157I	GUCY1B3_uc011cio.2_Silent_p.I179I|GUCY1B3_uc011cip.2_Silent_p.I137I|GUCY1B3_uc003ipd.3_Silent_p.I85I|GUCY1B3_uc010iqf.3_Silent_p.I157I|GUCY1B3_uc010iqg.3_Silent_p.I85I|GUCY1B3_uc011ciq.2_Silent_p.I85I	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	157					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACAACAAATCCATGGCACTG	0.373000														72			18		0	0	0.008871	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439687	150439687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150439687G>A	uc022apw.1	+	5	1212	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E154K	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CACCCACAAAGAGGACTTAGG	0.557000														80			14		0	0	0.003163	0	0
SPATA17	128153	broad.mit.edu	37	1	217856677	217856677	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:217856677C>T	uc001hlh.1	+	4	395	c.369C>T	c.(367-369)gtC>gtT	p.V123V	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	123						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACCTGAAAGTCGTTTCAGAGA	0.348000														124			8		0	0	0.003080	0	0
SGK223	157285	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:8175943G>A	uc003wsh.4	-	4	3942	c.3942C>T	c.(3940-3942)atC>atT	p.I1314I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1314	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGCCTCGCCGATGCGGATAC	0.716000														20			5		0	0	0.000602	0	0
FAM161B	145483	broad.mit.edu	37	14	74411155	74411155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:74411155C>T	uc001xpd.2	-	2	1196	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CGAGCAGCTTCCTTTAGCTGC	0.567000														43			7		0	0	0.001984	0	0
FAM188B	84182	broad.mit.edu	37	7	30876318	30876318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:30876318C>T	uc003tbt.3	+	6	1254	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	FAM188B_uc010kwe.3_Missense_Mutation_p.P364S	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	393										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCCTGTCGCCAGTCCCATC	0.473000														115			21		0	0	0.003954	0	0
DPPA3	359787	broad.mit.edu	37	12	7867976	7867976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7867976G>A	uc001qtf.3	+	1	358	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	94						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TGTGCAGAGAGAAAAGATGGC	0.502000														29			6		0	0	0.001984	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684963	169684963	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:169684963A>G	uc002ueg.3	+	4	560	c.294A>G	c.(292-294)atA>atG	p.I98M	NOSTRIN_uc002uef.3_Missense_Mutation_p.I98M|NOSTRIN_uc002ueh.3_Missense_Mutation_p.I20M|NOSTRIN_uc010fpu.3_Missense_Mutation_p.I70M	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	98					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGGAAGCAATAAAACCGACTT	0.328000														67			9		0	0	0.008291	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701699	96701699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:96701699G>A	uc001kka.4	+	1	278	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	CYP2C9_uc009xut.3_Missense_Mutation_p.E85K|CYP2C9_uc001kjz.3_Missense_Mutation_p.E85K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	85					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCAGTGAAGGAAGCCCTGAT	0.473000														137			11		0	0	0.010729	0	0
KIF2B	84643	broad.mit.edu	37	17	51900847	51900847	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:51900847G>A	uc002iua.2	+	0	609	c.453G>A	c.(451-453)tgG>tgA	p.W151*	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	151					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTGCCTCTGGGAAATCCAGA	0.562000														69			6		0	0	0.001168	0	0
OR6M1	390261	broad.mit.edu	37	11	123676792	123676792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:123676792G>A	uc010rzz.2	-	0	266	c.266C>T	c.(265-267)aCc>aTc	p.T89I		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAAAGATATGGTTTTCTCTTC	0.438000														28			8		0	0	0.003080	0	0
FAM5C	339479	broad.mit.edu	37	1	190129977	190129977	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:190129977G>A	uc001gse.1	-	6	1237	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FAM5C_uc010pot.1_Silent_p.F233F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	335						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATGTGTTGAGGAAATAATTCA	0.299000														96			14		0	0	0.004007	0	0
BPGM	669	broad.mit.edu	37	7	134346485	134346485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:134346485C>T	uc003vrv.3	+	2	767	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	BPGM_uc003vrw.3_Nonsense_Mutation_p.Q76*	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	76					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AGAGCTAGGCCAGGAATGGGT	0.493000														27			7		0	0	0.003080	0	0
CNTFR	1271	broad.mit.edu	37	9	34556355	34556355	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:34556355C>T	uc003zup.2	-	6	960	c.666G>A	c.(664-666)ctG>ctA	p.L222L	CNTFR_uc003zuq.2_Silent_p.L222L|CNTFR_uc022bgg.1_Silent_p.L222L	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	222	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ACGTCACCTCCAGCCGGCGAG	0.572000														30			5		0	0	0.000602	0	0
ATF4	468	broad.mit.edu	37	22	39917503	39917503	+	Missense_Mutation	SNP	C	T	T	rs34854854		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:39917503C>T	uc003axz.3	+	1	333	c.53C>T	c.(52-54)tCc>tTc	p.S18F	ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.3_Missense_Mutation_p.S18F|ATF4_uc021wpy.1_5'Flank|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	18					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GACTTGATGTCCCCCTTCGAC	0.532000														79			18		0	0	0.008871	0	0
CHIT1	1118	broad.mit.edu	37	1	203194880	203194880	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:203194880G>A	uc001gzn.2	-	2	270	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.F68F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	58					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCATGCCAGCGAAGGCGTAGA	0.572000														68			12		0	0	0.002450	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687247	8687247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:8687247C>T	uc001quo.1	-	5	812	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	216						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AAGAGATTTTCCTTTGTTCAA	0.408000														34			7		0	0	0.003080	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756700	94756700	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:94756700C>T	uc001yct.3	-	1	697	c.231G>A	c.(229-231)aaG>aaA	p.K77K	SERPINA10_uc001ycu.4_Silent_p.K77K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	77					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTGAAGTCTCCTTGGCAAGCT	0.557000														33			4		0	0	0.000602	0	0
WEE2	494551	broad.mit.edu	37	7	141429368	141429368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141429368G>A	uc003vwn.2	+	10	1979	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	525					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GTCACCCCAGGGATATACCCA	0.517000														71			6		0	0	0.001168	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683134	33683134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33683134C>T	uc003jia.1	-	4	1067	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	302	Peptidase M12B.|Poly-Glu.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTCTTCTTCGAGTAGAATG	0.423000										HNSCC(64;0.19)				25			11		0	0	0.008291	0	0
CFH	3075	broad.mit.edu	37	1	196715005	196715005	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196715005C>T	uc001gtj.4	+	20	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F	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.	1123	Sushi 19.				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						TTACTTCATTCCCGTTGTCAG	0.403000														76			7		0	0	0.008291	0	0
FAM134A	79137	broad.mit.edu	37	2	220043652	220043652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220043652C>T	uc002vjw.4	+	1	426	c.290C>T	c.(289-291)tCt>tTt	p.S97F	CNPPD1_uc002vju.4_5'Flank|CNPPD1_uc002vjv.3_5'Flank|FAM134A_uc010fwc.3_5'UTR|FAM134A_uc002vjx.3_5'Flank	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	97	Poly-Ser.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTTGCTGTCTTCCTCGTCC	0.552000														121			12		0	0	0.001855	0	0
CST5	1473	broad.mit.edu	37	20	23856866	23856866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:23856866C>T	uc002wtr.1	-	2	455	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.	130						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GAAATTTTATCCTCCCAGGGA	0.478000														77			7		0	0	0.006214	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079004	22079004	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:22079004C>T	uc003xbk.4	-	5	1549	c.855G>A	c.(853-855)gaG>gaA	p.E285E	PHYHIP_uc003xbj.4_Silent_p.E285E	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	285										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGTAGATGATCTCCAGGATGA	0.617000														49			7		0	0	0.003080	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423605	142423605	+	Silent	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142423605A>C	uc010lol.1	+	1	294	c.261A>C	c.(259-261)cgA>cgC	p.R87R	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|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGTCTCTCGAAAAGAGAAGA	0.507000														38			4		0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	33987127	33987127	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33987127G>A	uc001bxm.1	-	67	10710	c.10533C>T	c.(10531-10533)gcC>gcT	p.A3511A	CSMD2_uc001bxn.1_Silent_p.A3367A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3367						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGAAGGTGGCTCCGGAGG	0.577000														53			7		0	0	0.004482	0	0
OR8B2	26595	broad.mit.edu	37	11	124252337	124252337	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124252337C>T	uc010sai.2	-	0	903	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCAGAGCTTTCCTCAGTGCAA	0.348000														43			9		0	0	0.006214	0	0
SLC25A31	83447	broad.mit.edu	37	4	128688264	128688264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:128688264G>A	uc003ifl.3	+	3	668	c.522G>A	c.(520-522)atG>atA	p.M174I		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	174					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						ACTGTATTATGAAAATAGCAA	0.358000														44			15		0	0	0.002450	0	0
UACA	55075	broad.mit.edu	37	15	70969480	70969480	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:70969480C>T	uc002asr.3	-	12	1104	c.1000_splice	c.e12-1	p.E334_splice	UACA_uc010uke.2_Splice_Site_p.E225_splice|UACA_uc002asq.3_Splice_Site_p.E321_splice|UACA_uc010bin.1_Intron	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	334						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCATAACTTCCTAAATTTAAA	0.274000														51			12		0	0	0.002450	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054870	151054870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:151054870C>T	uc011eem.1	+	1	318	c.230C>T	c.(229-231)tCg>tTg	p.S77L	PLEKHG1_uc011eel.1_Missense_Mutation_p.S58L|PLEKHG1_uc003qny.1_Missense_Mutation_p.S18L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S18L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	18					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACATCATCCTCGGCCTCTTCC	0.547000														73			8		0	0	0.003080	0	0
MYO1B	4430	broad.mit.edu	37	2	192252042	192252042	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:192252042C>T	uc010fsg.2	+	16	1902	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	MYO1B_uc002usq.2_Silent_p.L549L|MYO1B_uc002usr.2_Silent_p.L549L|MYO1B_uc002ust.1_Silent_p.L187L	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	549	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCCATGCCCTCATCAAGTCTT	0.522000														65			6		0	0	0.001168	0	0
NYAP2	57624	broad.mit.edu	37	2	226446813	226446813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:226446813C>T	uc002voe.2	+	3	855	c.680C>T	c.(679-681)tCc>tTc	p.S227F	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	227																	CGGGACTCCTCCTTGTCCCAG	0.582000														118			14		0	0	0.004007	0	0
LY6G5B	58496	broad.mit.edu	37	6	31639771	31639771	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:31639771C>T	uc003nvt.1	+	2	318	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5B (LY6G5B), mRNA.	106	UPAR/Ly6.					extracellular region				lung(4)	4						ATTGCAACTCCTGGTCAAGCC	0.562000														324			36		0	0	0.006230	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459400	84459400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:84459400G>A	uc010chj.3	+	10	1068	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	ATP2C2_uc002fhx.3_Missense_Mutation_p.G327R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G344R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G176R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	327					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G327W(2)		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						GTTCACGATCGGGGTCAGGTA	0.547000														144			23		0	0	0.003954	0	0
SSH2	85464	broad.mit.edu	37	17	27958624	27958625	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:27958624_27958625GG>AA	uc002heo.1	-	14	3506_3507	c.3506_3507CC>TT	c.(3505-3507)tcc>tTT	p.S1169F	SSH2_uc010wbh.1_Missense_Mutation_p.S1196F	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1169					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTGCCACTGGAGAGAGGGCT	0.505000														47			9		0	0	0.004672	0	0
GH2	2689	broad.mit.edu	37	17	61958427	61958427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61958427G>A	uc002jcl.1	-	2	315	c.253C>T	c.(253-255)Cca>Tca	p.P85S	GH2_uc002jcn.1_Missense_Mutation_p.P70S|GH2_uc002jco.1_Missense_Mutation_p.P85S|GH2_uc002jcm.1_Missense_Mutation_p.P85S	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	85						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAAGGTGTTGGAATAGACTCT	0.552000														147			52		0	0	0.014410	0	0
ATP8B4	79895	broad.mit.edu	37	15	50366334	50366334	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:50366334A>C	uc001zxu.3	-	2	219	c.77T>G	c.(76-78)tTc>tGc	p.F26C	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	26					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)		CGCATACTGGAACTTTTCATT	0.378000														52			5		0	0	0.001168	0	0
TMEM244	253582	broad.mit.edu	37	6	130164702	130164702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:130164702G>A	uc003qbs.3	-	2	249	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	ARHGAP18_uc021zfe.1_Intron	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	Homo sapiens chromosome 6 open reading frame 191 (C6orf191), mRNA.	56						integral to membrane											AGCCATGAGGGATTTGTTTTG	0.308000														69			10		0	0	0.001855	0	0
FMO1	2326	broad.mit.edu	37	1	171236709	171236709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:171236709C>T	uc009wvz.3	+	2	296	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	FMO1_uc010pme.2_Intron|FMO1_uc001ghl.3_Missense_Mutation_p.L54F|FMO1_uc001ghm.3_Missense_Mutation_p.L54F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	54					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.L54L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGAGCCAGTCTCTACAAGTC	0.433000														80			6		0	0	0.003080	0	0
OR4A15	81328	broad.mit.edu	37	11	55135936	55135936	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55135936C>T	uc010rif.2	+	0	577	c.577C>T	c.(577-579)Cag>Tag	p.Q193*		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y192H(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTTATTTATCAGCTCCCTTT	0.428000														85			8		0	0	0.010729	0	0
C18orf34	374864	broad.mit.edu	37	18	30672850	30672850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:30672850C>T	uc010xbr.1	-	19	2405	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc002kxn.2_Missense_Mutation_p.E755K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E717K|C18orf34_uc002kxp.3_Missense_Mutation_p.E755K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	755										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CGCAGATTTTCTTCAAGTGAA	0.259000														35			4		0	0	0.009096	0	0
MYCBP2	23077	broad.mit.edu	37	13	77673139	77673139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:77673139C>T	uc021rks.1	-	55	8417	c.8150G>A	c.(8149-8151)gGa>gAa	p.G2717E	MYCBP2_uc010aev.3_Missense_Mutation_p.G2083E|MYCBP2_uc001vkg.1_Missense_Mutation_p.G202E|MYCBP2_uc010aew.3_Missense_Mutation_p.G65E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2679	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGATGTTTCCTCGATCACC	0.368000														90			11		0	0	0.010729	0	0
OTOP3	347741	broad.mit.edu	37	17	72945374	72945374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:72945374G>A	uc010wrr.2	+	6	1654	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	OTOP3_uc010wrq.2_Missense_Mutation_p.E534K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	552						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CATACACCCGGAGTTTGAGAA	0.557000														76			11		0	0	0.010729	0	0
ZAN	7455	broad.mit.edu	37	7	100386863	100386863	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100386863C>T	uc003uwj.3	+	39	7413	c.7248C>T	c.(7246-7248)gtC>gtT	p.V2416V	ZAN_uc003uwk.3_Silent_p.V2416V|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.V467V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2417	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGATGGCCGTCCCCTACAGGC	0.567000														25			5		0	0	0.001168	0	0
FCN1	2219	broad.mit.edu	37	9	137808284	137808284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:137808284C>T	uc004cfi.3	-	1	216	c.127G>A	c.(127-129)Ggc>Agc	p.G43S		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	43					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)		TTGTCAGAGCCCTCCAGGCCC	0.642000														128			8		0	0	0.003080	0	0
MYOM3	127294	broad.mit.edu	37	1	24392449	24392449	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:24392449G>A	uc001bin.4	-	28	3629	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	MYOM3_uc001bil.4_Nonsense_Mutation_p.Q49*|MYOM3_uc001bim.4_Nonsense_Mutation_p.Q813*|MYOM3_uc001bio.3_Nonsense_Mutation_p.Q1156*	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1156	Ig-like C2-type 3.									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)		TCTGCCCTCTGGAAGAACCAC	0.517000														98			19		0	0	0.014323	0	0
TREML3P	340206	broad.mit.edu	37	6	41185544	41185544	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41185544G>A	uc003oqb.3	-	0		c.142C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		ATTGTGTAATGAGACTTCTGA	0.493000														28			11		0	0	0.013537	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938862	2938862	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2938862C>T	uc001ajz.3	+	0	817	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	204						cytoplasm|cytoskeleton		p.T203A(1)		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)		GCCACACCTTCCCCTGCCAGC	0.642000														51			8		0	0	0.008291	0	0
TGM3	7053	broad.mit.edu	37	20	2308780	2308781	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:2308780_2308781GG>AA	uc002wfx.4	+	8	1199_1200	c.1102_1103GG>AA	c.(1102-1104)ggc>AAc	p.G368N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	368					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTTCCAGTGCGGCCCCGCTTCG	0.594000														56			5		0	0	0.004672	0	0
CGNL1	84952	broad.mit.edu	37	15	57730340	57730340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57730340G>A	uc010bfw.3	+	2	336	c.143G>A	c.(142-144)gGa>gAa	p.G48E	CGNL1_uc002aeg.3_Missense_Mutation_p.G48E	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	48	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CGGGTCCAGGGAATTGATGGT	0.498000														84			9		0	0	0.004482	0	0
GDF10	2662	broad.mit.edu	37	10	48426663	48426663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48426663C>T	uc001jfb.3	-	2	1772	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	GDF10_uc009xnp.3_Missense_Mutation_p.M447I	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	448					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CAAGGGAGTTCATCTTATCGG	0.562000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			10		0	0	0.006214	0	0
ABCA4	24	broad.mit.edu	37	1	94487458	94487458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94487458C>T	uc001dqh.3	-	32	4821	c.4717G>A	c.(4717-4719)Ggg>Agg	p.G1573R		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1573					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGTGCTTCCCCCGTGATGGGG	0.498000														52			5		0	0	0.001984	0	0
MACF1	23499	broad.mit.edu	37	1	39763387	39763387	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39763387C>T	uc021olt.1	+	19	2518	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	MACF1_uc021ols.1_Silent_p.S822S|MACF1_uc001cdc.2_Silent_p.S822S|MACF1_uc001cda.1_Silent_p.S730S|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	822					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	p.C822Y(1)		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)			CCAGCTTATCCCGCCTTGAAG	0.468000														35			12		0	0	0.001855	0	0
BNIPL	149428	broad.mit.edu	37	1	151018317	151018317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:151018317G>A	uc001ewl.2	+	7	1069	c.896G>A	c.(895-897)tGg>tAg	p.W299*	BNIPL_uc009wmi.2_Nonsense_Mutation_p.W217*|BNIPL_uc009wmj.2_Non-coding_Transcript|C1orf56_uc021oyi.1_5'Flank|C1orf56_uc001ewn.3_5'Flank	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	299	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATGCTACATGGTATGTGAAA	0.448000														138			8		0	0	0.006214	0	0
FLNC	2318	broad.mit.edu	37	7	128484142	128484142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:128484142C>T	uc003vnz.4	+	19	3223	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	FLNC_uc003voa.4_Missense_Mutation_p.S1005L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1005					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.S1005L(4)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGATGACTTCGCCCTCTCGC	0.662000														37			4		0	0	0.000602	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386156	49386156	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:49386156G>A	uc001jgi.3	-	21	3160	c.2829C>T	c.(2827-2829)atC>atT	p.I943I	FRMPD2_uc001jgh.3_Silent_p.I911I|FRMPD2_uc001jgj.3_Silent_p.I912I|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	943					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)		CACCAGCACTGATTTCTGGAG	0.408000														19			5		0	0	0.001168	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300651	41300652	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:41300651_41300652CC>TT	uc001cgh.2	+	11	1708_1709	c.1626_1627CC>TT	c.(1624-1629)ttcctg>ttTTtg	p.542_543FL>FL	KCNQ4_uc001cgi.2_Silent_p.488_489FL>FL	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	542					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCTCAAGTTCCTGGTGGCCAA	0.554000														50			10		0	0	0.004672	0	0
HCN1	348980	broad.mit.edu	37	5	45645578	45645578	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:45645578G>A	uc003jok.3	-	1	583	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	186						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						GGTCCAATAGGAAAACTGTAT	0.368000														54			17		0	0	0.007413	0	0
MACF1	23499	broad.mit.edu	37	1	39798726	39798726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39798726C>T	uc021olw.1	+	0	1786	c.1786C>T	c.(1786-1788)Cca>Tca	p.P596S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2161					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)			TGTTGAAACACCAAAGAAAGA	0.443000														36			7		0	0	0.003080	0	0
SLC52A3	113278	broad.mit.edu	37	20	744543	744543	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:744543G>A	uc002wed.4	-	2	1011	c.672C>T	c.(670-672)ttC>ttT	p.F224F	SLC52A3_uc002wee.2_Silent_p.F224F	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	224			F -> L (in BVVLS).		sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										ATAGGAGGAGGAAGAAGACCA	0.607000														20			4		0	0	0.000602	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324938	150324938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150324938C>T	uc022apv.1	-	2	1438	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GIMAP6_uc003whn.3_Missense_Mutation_p.E250K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	250							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493000														83			14		0	0	0.002450	0	0
ATP2B3	492	broad.mit.edu	37	X	152818531	152818531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:152818531G>A	uc004fht.1	+	10	1988	c.1862G>A	c.(1861-1863)gGc>gAc	p.G621D	ATP2B3_uc004fhs.1_Missense_Mutation_p.G621D	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	621					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTCCGGGGCTTTCGGCCT	0.607000														19			5		0	0	0.001984	0	0
FOXD4	2298	broad.mit.edu	37	9	117475	117475	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:117475G>A	uc003zfz.3	-	0	943	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	215	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CAGGTAGAGGGAAGGGGTGGG	0.706000														127			15		0	0	0.006122	0	0
ACAD10	80724	broad.mit.edu	37	12	112150336	112150336	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:112150336A>G	uc009zvx.3	+	6	1018	c.818A>G	c.(817-819)gAa>gGa	p.E273G	ACAD10_uc001tso.4_Missense_Mutation_p.E242G|ACAD10_uc001tsp.3_Missense_Mutation_p.E242G|ACAD10_uc001tsq.3_Missense_Mutation_p.E242G|ACAD10_uc001tsr.3_5'UTR|ACAD10_uc001tss.1_5'Flank	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	242							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AAGGAATTAGAAGCTCTCTTG	0.388000														81			28		0	0	0.009535	0	0
HNF4G	3174	broad.mit.edu	37	8	76471254	76471254	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:76471254C>T	uc003yaq.3	+	8	1234	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	HNF4G_uc003yar.3_Nonsense_Mutation_p.Q359*	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	322					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAATCTACTTCAGGAAATGCT	0.348000														54			14		0	0	0.003163	0	0
CSF1R	1436	broad.mit.edu	37	5	149457738	149457738	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:149457738G>A	uc003lrl.3	-	3	861	c.666C>T	c.(664-666)atC>atT	p.I222I	CSF1R_uc011dcd.2_Silent_p.I74I|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.I222I|CSF1R_uc011dce.1_Silent_p.I222I|CSF1R_uc011dcf.2_Silent_p.I222I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	222	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGAGCACACGATCTGGGCAG	0.582000														52			8		0	0	0.004482	0	0
MAMDC2	256691	broad.mit.edu	37	9	72746444	72746444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:72746444G>A	uc004ahm.2	+	6	1527	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	304	MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGTTATTTTTGAAGTTGCTTT	0.393000														61			12		0	0	0.010729	0	0
LAMA3	3909	broad.mit.edu	37	18	21495273	21495273	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:21495273C>T	uc002kuq.3	+	58	7751	c.7665C>T	c.(7663-7665)ttC>ttT	p.F2555F	LAMA3_uc002kur.3_Silent_p.F2499F|LAMA3_uc002kus.4_Silent_p.F946F|LAMA3_uc002kut.4_Silent_p.F890F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2555	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTAAGTTTCCCTCCATACA	0.328000														34			4		0	0	0.001168	0	0
MKLN1	4289	broad.mit.edu	37	7	131060248	131060248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:131060248C>T	uc011kpm.2	+	1	228	c.164C>T	c.(163-165)cCc>cTc	p.P55L	MKLN1_uc011kpl.2_Missense_Mutation_p.P32L|MKLN1_uc010lmh.2_Missense_Mutation_p.P55L|MKLN1_uc003vqs.3_5'UTR	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	55					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AACTATCCTCCCCAGGTAAGA	0.323000														54			10		0	0	0.010729	0	0
SGCG	6445	broad.mit.edu	37	13	23869566	23869566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:23869566C>T	uc001uom.2	+	5	673	c.518C>T	c.(517-519)gCt>gTt	p.A173V	SGCG_uc009zzv.2_Missense_Mutation_p.A173V|SGCG_uc009zzw.2_Missense_Mutation_p.A173V	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	173					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CCTGAAGGGGCTCTTTTTGAA	0.378000														99			11		0	0	0.013537	0	0
OR2M3	127062	broad.mit.edu	37	1	248366744	248366744	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248366744C>T	uc010pzg.2	+	0	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			GCTACACTGCCATTTGCCACC	0.443000														174			18		0	0	0.007413	0	0
FPR3	2359	broad.mit.edu	37	19	52327053	52327053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52327053G>A	uc002pxt.1	+	1	236	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FPR3_uc021uyq.1_Missense_Mutation_p.E18K	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	18					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGTGCTCCCTGAGCCTGCTGG	0.527000														36			11		0	0	0.013537	0	0
FBXO39	162517	broad.mit.edu	37	17	6690203	6690203	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:6690203C>T	uc010vtg.2	+	2	1248	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	FBXO39_uc010cls.1_Non-coding_Transcript	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	376										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCTGGGCTTTCCTTGATGTTA	0.483000														37			6		0	0	0.001984	0	0
MEFV	4210	broad.mit.edu	37	16	3304166	3304166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:3304166G>A	uc002cun.1	-	1	942	c.902C>T	c.(901-903)tCg>tTg	p.S301L	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	301					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S301S(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	accggtgacCGAATGTTCTGG	0.562000														53			5		0	0	0.000602	0	0
MYH13	8735	broad.mit.edu	37	17	10215934	10215934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10215934G>A	uc002gmk.1	-	30	4412	c.4322C>T	c.(4321-4323)aCc>aTc	p.T1441I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1441					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCACAGGCGGTGTGGGAGCG	0.562000														19			6		0	0	0.001168	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363164	17363164	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:17363164G>A	uc001ipd.3	-	7	910	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	304					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGATCTTTCAGGTACTTGGGA	0.443000														104			17		0	0	0.007413	0	0
UNC119B	84747	broad.mit.edu	37	12	121154822	121154822	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121154822T>G	uc001tyz.3	+	3	1067	c.620T>G	c.(619-621)tTt>tGt	p.F207C		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	207										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCTATGAGTTTCCCCAGCTT	0.463000														364			47		0	0	0.014410	0	0
C3orf20	84077	broad.mit.edu	37	3	14724407	14724407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:14724407C>T	uc003byy.3	+	2	639	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Missense_Mutation_p.P63S	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	63						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTGCCTACCCCGTCCGACAT	0.542000														78			16		0	0	0.006122	0	0
ART3	419	broad.mit.edu	37	4	77003000	77003000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:77003000G>A	uc003hjo.3	+	2	227	c.93G>A	c.(91-93)atG>atA	p.M31I	ART3_uc003hji.3_Missense_Mutation_p.M31I|ART3_uc003hjj.3_Missense_Mutation_p.M31I|ART3_uc003hjk.3_Missense_Mutation_p.M31I|ART3_uc010ija.2_Missense_Mutation_p.M31I|ART3_uc003hjn.3_Missense_Mutation_p.M31I|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.M1I|ART3_uc010ijc.3_Missense_Mutation_p.M1I|ART3_uc010ijd.3_Missense_Mutation_p.M1I	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	31					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTAGACATGGCAGATAATG	0.373000														79			24		0	0	0.007291	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800664	32800664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:32800664G>A	uc001bvd.3	-	1	322	c.122C>T	c.(121-123)tCc>tTc	p.S41F		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	41						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCTTGGGGGATAAGTCTCC	0.637000														63			21		0	0	0.003330	0	0
RELB	5971	broad.mit.edu	37	19	45506214	45506214	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:45506214C>T	uc021uvq.1	+	1	245	c.114C>T	c.(112-114)ccC>ccT	p.P38P	RELB_uc021uvp.1_Silent_p.P38P	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	38						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGGGTCCCCCGACCTCTCCT	0.612000														74			25		0	0	0.005443	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242161914	242161914	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:242161914C>T	uc001hzk.2	-	2	198	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 gamma (MAP1LC3C), mRNA.	41					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTAGCGCTCCACTACCACCT	0.552000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			14		0	0	0.002450	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553474	140553474	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140553474C>G	uc003lit.3	+	0	1232	c.1058C>G	c.(1057-1059)aCt>aGt	p.T353S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTCACTTACTAGCCCAATT	0.488000														15			3		0	0	0.004672	0	0
ESRP1	54845	broad.mit.edu	37	8	95674533	95674533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:95674533G>A	uc003ygq.4	+	4	707	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	ESRP1_uc003ygr.4_Missense_Mutation_p.R175Q|ESRP1_uc003ygs.4_Missense_Mutation_p.R175Q|ESRP1_uc003ygt.4_Missense_Mutation_p.R175Q|ESRP1_uc003ygu.4_Missense_Mutation_p.R175Q|ESRP1_uc003ygv.3_Missense_Mutation_p.R15Q|ESRP1_uc003ygw.3_Missense_Mutation_p.R15Q	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	175					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCAGTCTCTCGATATGGAGCC	0.318000														353			41		0	0	0.013114	0	0
DNAH7	56171	broad.mit.edu	37	2	196620936	196620936	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196620936C>T	uc002utj.4	-	61	11608	c.11507G>A	c.(11506-11508)tGg>tAg	p.W3836*	DNAH7_uc002uti.4_Nonsense_Mutation_p.W319*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3836					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						TTTACCCATCCACATTTCTGG	0.398000														37			5		0	0	0.000602	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458049	53458049	+	Missense_Mutation	SNP	G	A	A	rs144891671		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:53458049G>A	uc001jjp.3	-	0	1307	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA.	421	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing	nucleus	RNA binding|nucleotide binding	p.R421R(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCCATGGCACGAGTCTCCATC	0.527000														78			13		0	0	0.013537	0	0
HYDIN	54768	broad.mit.edu	37	16	71212846	71212846	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:71212846C>T	uc002ezr.3	-	3	517	c.366G>A	c.(364-366)ttG>ttA	p.L122L	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.L122L|HYDIN_uc010vmc.2_Silent_p.L139L|HYDIN_uc010vmd.2_Silent_p.L149L|HYDIN_uc002ezw.4_Silent_p.L139L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	122										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)				CATTGTTCCTCAAAATCAGTG	0.403000														90			8		0	0	0.004482	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436237	8436237	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8436237C>T	uc002mjq.1	+	5	1065	c.870C>T	c.(868-870)tcC>tcT	p.S290S	ANGPTL4_uc002mjr.1_Silent_p.S252S|ANGPTL4_uc010xkc.1_Silent_p.S123S	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	290	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGCAGTTCTCCGTGCACCTGG	0.692000														22			8		0	0	0.003080	0	0
TFEB	7942	broad.mit.edu	37	6	41654901	41654901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41654901C>T	uc021yzl.1	-	5	936	c.935G>A	c.(934-936)aGg>aAg	p.R312K	TFEB_uc003oqs.1_Missense_Mutation_p.R245K|TFEB_uc003oqt.1_Missense_Mutation_p.R245K|TFEB_uc003oqu.1_Missense_Mutation_p.R245K|TFEB_uc003oqv.1_Missense_Mutation_p.R245K|TFEB_uc003oqr.1_Missense_Mutation_p.R160K	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	245	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCTTCGTCTCCTTTCAACTAA	0.552000			T	ALPHA	renal (childhood epithelioid)									39			9		0	0	0.006214	0	0
CEP104	9731	broad.mit.edu	37	1	3732052	3732052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:3732052G>A	uc001aky.2	-	21	3051	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	898						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GACCCCAAGGGGCCTGATGCG	0.652000														32			4		0	0	0.000602	0	0
IPO11	51194	broad.mit.edu	37	5	61802166	61802166	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:61802166C>T	uc011cqr.2	+	18	2014	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	IPO11_uc003jtc.3_Silent_p.I588I|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	588						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTGTGTGATCGAAAGAGTCA	0.348000														32			5		0	0	0.000602	0	0
PENK	5179	broad.mit.edu	37	8	57354009	57354009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:57354009C>T	uc003xsz.2	-	1	707	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PENK_uc003xta.3_Missense_Mutation_p.R209Q	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	209					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCCCCATATCGCTTCTGCAG	0.522000														68			32		0	0	0.013726	0	0
ABL2	27	broad.mit.edu	37	1	179078078	179078078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179078078G>A	uc001gmj.4	-	11	2611	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Missense_Mutation_p.S754F|ABL2_uc001gmg.4_Intron|ABL2_uc001gmi.4_Missense_Mutation_p.S760F|ABL2_uc010pne.2_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	775	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAAAGGCTTGGAAGTGTCATC	0.527000			T	ETV6	AML									134			12		0	0	0.002450	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140983	143140983	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143140983C>T	uc011ktg.2	+	0	438	c.438C>T	c.(436-438)ttC>ttT	p.F146F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	146					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGATGCTCTTCAGCTCTGTAG	0.453000														115			10		0	0	0.008291	0	0
OR2M7	391196	broad.mit.edu	37	1	248487068	248487068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248487068G>A	uc010pzk.2	-	0	803	c.803C>T	c.(802-804)cCt>cTt	p.P268L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GTCCTGCATAGGAGAATGATG	0.463000														68			9		0	0	0.004482	0	0
AGRN	375790	broad.mit.edu	37	1	981167	981167	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:981167G>T	uc001ack.2	+	14	2641	c.2591G>T	c.(2590-2592)gGg>gTg	p.G864V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	864	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.T863M(1)|p.G864G(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGATGACGGGGCTGTGCTCG	0.667000														70			12		3.27435e-08	3.40422e-08	0.002450	1	0
LGALS9	3965	broad.mit.edu	37	17	25967724	25967724	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:25967724G>A	uc002gzp.3	+	2	376	c.258G>A	c.(256-258)gaG>gaA	p.E86E	LGALS9_uc002gzq.3_Silent_p.E86E|LGALS9_uc002gzr.3_Silent_p.E29E|LGALS9_uc010waa.2_Silent_p.E29E	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	86	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGCCCGAGGAGAGGAAGACAC	0.552000														99			13		0	0	0.007413	0	0
LRRC27	80313	broad.mit.edu	37	10	134158054	134158054	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:134158054C>T	uc010quw.1	+	4	648	c.453C>T	c.(451-453)ttC>ttT	p.F151F	LRRC27_uc001llf.2_Silent_p.F151F|LRRC27_uc010quv.1_Silent_p.F151F|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.F151F|LRRC27_uc001llj.2_Silent_p.F89F|LRRC27_uc001llk.4_Silent_p.F24F	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	151										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCTGGAATTCCCTCCTCAGC	0.502000														55			12		0	0	0.003163	0	0
DOCK3	1795	broad.mit.edu	37	3	51274929	51274929	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51274929C>T	uc011bds.2	+	20	2033	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	670						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGTTCATCATCAACCTGC	0.473000														21			5		0	0	0.001168	0	0
DBN1	1627	broad.mit.edu	37	5	176894001	176894001	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:176894001G>A	uc003mgx.2	-	7	906	c.624C>T	c.(622-624)ttC>ttT	p.F208F	DBN1_uc003mgy.2_Silent_p.F206F|DBN1_uc010jkn.1_Silent_p.F156F|DBN1_uc003mgz.1_Silent_p.F143F	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	206					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			GCTCCTGCTCGAACCTGAGCC	0.667000														35			10		0	0	0.008291	0	0
DACH1	1602	broad.mit.edu	37	13	72147041	72147041	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:72147041G>A	uc021rkj.1	-	3	1659	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	462					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TATTTGCAATGGTGCTGAGGT	0.443000														51			7		0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	229046312	229046312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:229046312C>T	uc002vpq.2	-	0	50	c.3G>A	c.(1-3)atG>atA	p.M1I	SPHKAP_uc002vpp.2_Missense_Mutation_p.M1I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M1I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1						cytoplasm	protein binding			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)		AGTTGCCATCCATTGTTGGTG	0.572000														80			16		0	0	0.006122	0	0
MYH2	4620	broad.mit.edu	37	17	10433037	10433037	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10433037C>T	uc010coi.3	-	23	3089	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E987E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	987					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCTGCCATCTCTTCTGTGA	0.493000														121			18		0	0	0.014323	0	0
OR5A2	219981	broad.mit.edu	37	11	59189624	59189624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:59189624G>A	uc010rkt.2	-	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTGTTTAGGGAGTAGCTGGA	0.478000														15			7		0	0	0.001984	0	0
GPR111	222611	broad.mit.edu	37	6	47649491	47649491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47649491C>T	uc010jzj.1	+	5	1197	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	GPR111_uc003oyy.3_Missense_Mutation_p.S331F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	399	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S398S(1)		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						GGCTGGCACTCTGTGGAGAAC	0.453000														61			8		0	0	0.004482	0	0
CCP110	9738	broad.mit.edu	37	16	19548407	19548407	+	Silent	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:19548407A>G	uc002dgl.4	+	3	1663	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	CCP110_uc002dgk.4_Silent_p.K472K	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	472	Interaction with CEP76.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TAGAAAATAAAGTTACTCATG	0.393000														34			4		0	0	0.009096	0	0
COL4A4	1286	broad.mit.edu	37	2	227945198	227945198	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:227945198C>T	uc021vxr.1	-	22	1865	c.1764G>A	c.(1762-1764)cgG>cgA	p.R588R	COL4A4_uc021vxs.1_Silent_p.R588R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	588	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)		CATGTCCATCCCGACCATGTG	0.458000														83			6		0	0	0.001984	0	0
NIM1	167359	broad.mit.edu	37	5	43246149	43246149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:43246149G>A	uc003jno.3	+	1	1153	c.272G>A	c.(271-273)gGg>gAg	p.G91E		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	91	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GTGAAGCTTGGGATTCACTCC	0.537000														32			6		0	0	0.003080	0	0
LILRA1	11024	broad.mit.edu	37	19	55086440	55086440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55086440G>A	uc010ern.3	+	4	1064	c.595G>A	c.(595-597)Gac>Aac	p.D199N	LILRA1_uc002qgg.4_Missense_Mutation_p.D199N|LILRA1_uc002qgf.3_Missense_Mutation_p.D199N|LILRA1_uc010yfe.1_Missense_Mutation_p.D199N|LILRA1_uc010yff.1_Missense_Mutation_p.D187N|LILRA1_uc010ero.3_Missense_Mutation_p.D187N|LILRA1_uc010yfg.1_Missense_Mutation_p.D199N			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	201	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTATGCTTATGACTCGAACTC	0.577000														87			8		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248978	140248978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140248978G>A	uc003lia.2	+	0	1148	c.290G>A	c.(289-291)gGg>gAg	p.G97E	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_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.G97E	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	112	Cadherin 1.				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)			GAGCTGTGCGGGCAGAGCGCG	0.562000														172			21		0	0	0.010504	0	0
LGI2	55203	broad.mit.edu	37	4	25005516	25005516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:25005516G>A	uc003grf.2	-	7	1294	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	399						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTCCACTGGAGGATGATGGGG	0.517000														111			38		0	0	0.005524	0	0
COL9A1	1297	broad.mit.edu	37	6	70926710	70926710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:70926710G>A	uc003pfg.4	-	37	2815	c.2656C>T	c.(2656-2658)Cct>Tct	p.P886S	COL9A1_uc003pfe.4_Missense_Mutation_p.P435S|COL9A1_uc003pff.4_Missense_Mutation_p.P643S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	886	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCACTCCAGGAATTCCTGCC	0.622000														27			8		0	0	0.004482	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600002	81600002	+	Silent	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:81600002A>C	uc003uhr.1	-	26	2449	c.2193T>G	c.(2191-2193)gtT>gtG	p.V731V	CACNA2D1_uc011kgy.1_Missense_Mutation_p.F7C	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	743						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)	CTTTGGGATAAACTCTGGTAA	0.363000														110			11		0	0	0.013537	0	0
NMU	10874	broad.mit.edu	37	4	56471515	56471515	+	Splice_Site	SNP	G	A	A	rs138342873		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:56471515G>A	uc003hbc.3	-	7	467	c.361_splice	c.e7-1	p.S121_splice	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_Splice_Site|NMU_uc010igw.1_Splice_Site_p.S36_splice|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	Homo sapiens neuromedin U (NMU), mRNA.	121					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CACAACTGACGACTGAGAGGA	0.453000														32			6		0	0	0.001168	0	0
MYH11	4629	broad.mit.edu	37	16	15847301	15847301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:15847301G>A	uc002ddx.3	-	15	1942	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	MYH11_uc002ddv.3_Missense_Mutation_p.S612F|MYH11_uc002ddw.3_Missense_Mutation_p.S605F|MYH11_uc002ddy.3_Missense_Mutation_p.S605F|MYH11_uc010bvg.3_Missense_Mutation_p.S437F|MYH11_uc002dea.1_Missense_Mutation_p.S311F	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	605	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.S611S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATTGAGCAGGGAAGTCACGTT	0.557000			T	CBFB	AML									69			7		0	0	0.003080	0	0
RBM47	54502	broad.mit.edu	37	4	40428109	40428109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:40428109G>A	uc003gvc.2	-	6	2304	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	RBM47_uc003gvd.2_Missense_Mutation_p.P463S|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.P494S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	532	Ala-rich.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGGCAGTAGGAATTCTCTGA	0.562000														37			5		0	0	0.001168	0	0
KRT38	8687	broad.mit.edu	37	17	39594533	39594533	+	Silent	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39594533G>C	uc002hwq.1	-	5	1476	c.1053C>G	c.(1051-1053)gcC>gcG	p.A351A		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	351	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGCGGTCCTCGGCTTCACACA	0.552000														26			7		0	0	0.001984	0	0
POTEH	23784	broad.mit.edu	37	22	16287402	16287402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:16287402C>T	uc010gqp.2	-	0	536	c.484G>A	c.(484-486)Gac>Aac	p.D162N	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AAAGCGCTGTCGTCGTAGTCT	0.587000														126			9		0	0	0.008291	0	0
C6orf118	168090	broad.mit.edu	37	6	165715342	165715342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:165715342C>T	uc003qum.4	-	1	505	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	157										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTTTTCTTCCTTCCCCTCT	0.612000														36			20		0	0	0.008871	0	0
OVOS2	0	broad.mit.edu	37	12	31311984	31311984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:31311984G>A	uc010sjy.1	-	4	446	c.446C>T	c.(445-447)cCt>cTt	p.P149L						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ATTGTTTTGAGGATCCTAGAA	0.338000														34			10		0	0	0.006214	0	0
ZNF425	155054	broad.mit.edu	37	7	148801358	148801358	+	Silent	SNP	G	A	A	rs149172104	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:148801358G>A	uc003wfj.3	-	3	1738	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	535					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCGTCGGCGGAAACTGCGGC	0.617000														26			4		0	0	0.009096	0	0
ROS1	6098	broad.mit.edu	37	6	117622146	117622146	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117622146T>A	uc003pxp.1	-	41	6923	c.6724A>T	c.(6724-6726)Agc>Tgc	p.S2242C	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2242					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTTCAAAGCTTTCATTTATG	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									25			8		0	0	0.003080	0	0
PAGE4	9506	broad.mit.edu	37	X	49597195	49597195	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:49597195C>T	uc004don.1	+	3	313	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	78												Ovarian(276;0.236)					GTGGAGATGGCTCTGATGTAA	0.383000														20			4		0	0	0.009096	0	0
KCTD7	154881	broad.mit.edu	37	7	66103274	66103274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:66103274C>T	uc003tve.3	+	2	533	c.349C>T	c.(349-351)Cca>Tca	p.P117S	RABGEF1_uc003tvf.3_5'UTR|KCTD7_uc003tvd.4_Missense_Mutation_p.P117S	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	117	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGGGGACCTCCCACCCAGGGA	0.587000														71			18		0	0	0.004990	0	0
ITGA4	3676	broad.mit.edu	37	2	182339977	182339977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:182339977G>A	uc002unu.3	+	3	1281	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	ITGA4_uc010zfl.1_Missense_Mutation_p.R173Q	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	173					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)	CCTGATTTACGAACAGAACTG	0.348000														63			8		0	0	0.008291	0	0
KMO	8564	broad.mit.edu	37	1	241714300	241714300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:241714300C>T	uc009xgp.3	+	3	579	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	KMO_uc001hyy.3_Missense_Mutation_p.L130F|KMO_uc009xgo.2_Missense_Mutation_p.L130F	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	90					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATCCACTCTCTTTCAGGAAA	0.398000														138			10		0	0	0.008291	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706643	26706643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:26706643G>A	uc003acb.3	+	6	1718	c.1522G>A	c.(1522-1524)Gtt>Att	p.V508I	SEZ6L_uc003acd.3_Missense_Mutation_p.V508I|SEZ6L_uc011akd.2_Missense_Mutation_p.V508I|SEZ6L_uc003ace.3_Missense_Mutation_p.V508I|SEZ6L_uc011akc.2_Missense_Mutation_p.V508I|SEZ6L_uc003acc.3_Missense_Mutation_p.V508I|SEZ6L_uc003acf.1_Missense_Mutation_p.V281I|SEZ6L_uc010gvc.1_Missense_Mutation_p.V281I	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	508	CUB 2.					endoplasmic reticulum membrane|integral to membrane				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						CAGGATGACGGTTCACAGCGG	0.577000														54			6		0	0	0.004482	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403558	69403558	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69403558G>A	uc021xov.1	-	5	1421	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	460					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						AAGACTGCTCGATCCAGGGGC	0.428000														134			8		0	0	0.003080	0	0
OR2B6	26212	broad.mit.edu	37	6	27925818	27925818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:27925818C>T	uc011dkx.2	+	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCCCAGCTCCAAGGACCAA	0.453000														86			7		0	0	0.003080	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187043	38187044	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:38187043_38187044GG>AT	uc003xli.3	-	5	1951_1952	c.1433_1434CC>AT	c.(1432-1434)tcc>tAT	p.S478Y	WHSC1L1_uc011lbm.2_Missense_Mutation_p.S478Y|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S478Y|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S478Y	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	478					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCTGGTAAGGATTTCCTTGC	0.475000			T	NUP98	AML									44			5		0	0	0.004672	0	0
SALL4	57167	broad.mit.edu	37	20	50418921	50418921	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:50418921G>A	uc002xwh.4	-	0	128	c.27C>T	c.(25-27)ccC>ccT	p.P9P	SALL4_uc010gii.3_Silent_p.P9P|SALL4_uc002xwi.4_Silent_p.P9P	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	9					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATGTGCTGGGGTTTCGCCT	0.672000														49			5		0	0	0.001984	0	0
CXCR2	3579	broad.mit.edu	37	2	219000408	219000408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219000408C>T	uc002vgz.2	+	3	1094	c.884C>T	c.(883-885)gCt>gTt	p.A295V	CXCR2_uc002vha.2_Missense_Mutation_p.A295V|CXCR2_uc002vhb.2_Missense_Mutation_p.A295V|CXCR2_uc021vwp.1_Missense_Mutation_p.A295V	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATCGACCGGGCTCTGGATGCC	0.587000														67			9		0	0	0.006214	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665875	8665875	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8665875C>T	uc002mkj.1	-	5	1021	c.747G>A	c.(745-747)aaG>aaA	p.K249K	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCATCATCTTGTCAGCCA	0.627000														74			11		0	0	0.001855	0	0
NTRK2	4915	broad.mit.edu	37	9	87359893	87359893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:87359893G>A	uc004aoa.1	+	12	2139	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	NTRK2_uc004anv.1_Missense_Mutation_p.G388R|NTRK2_uc004any.1_Missense_Mutation_p.G401R|NTRK2_uc004anz.1_Missense_Mutation_p.G401R|NTRK2_uc004aob.1_Missense_Mutation_p.G401R|NTRK2_uc011lsz.2_Missense_Mutation_p.G401R|NTRK2_uc011lta.2_Missense_Mutation_p.G401R|NTRK2_uc011ltb.1_Missense_Mutation_p.G245R	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	401					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TTAAGATTATGGAACTGCAGC	0.478000										TSP Lung(25;0.17)				97			7		0	0	0.003080	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543404	182543404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:182543404C>T	uc021vto.1	-	0	184	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.E62K|NEUROD1_uc021vtn.1_Missense_Mutation_p.E62K	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	62	Glu-rich (acidic).				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.E62K(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			tcctcatcttcgtcctcctcc	0.552000														230			76		0	0	0.014410	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987396	103987396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:103987396C>T	uc001kut.3	+	1	278	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	39					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AACCTCATTCCCCATAGCCCT	0.562000														66			12		0	0	0.013537	0	0
P2RX5	5026	broad.mit.edu	37	17	3585200	3585200	+	Missense_Mutation	SNP	C	T	T	rs1131057	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3585200C>T	uc002fwi.3	-	9	1453	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.E292K|P2RX5_uc002fwk.3_Missense_Mutation_p.E351K|P2RX5_uc002fwj.3_Missense_Mutation_p.E327K|P2RX5_uc002fwl.3_Missense_Mutation_p.E328K	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	352				E -> Q (in Ref. 1; AAB08576/AAB08577).	nervous system development|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	p.E352L(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTCACTTCCTCGTACTTCTTG	0.547000														17			4		0	0	0.009096	0	0
DSG3	1830	broad.mit.edu	37	18	29056125	29056125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:29056125C>T	uc002kws.3	+	15	3011	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S	DSG3_uc002kwt.3_Missense_Mutation_p.P250S	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	968					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P968P(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGATCTGTCCCATTTCCAG	0.512000														76			5		0	0	0.000602	0	0
ABCB11	8647	broad.mit.edu	37	2	169874613	169874613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:169874613C>T	uc002ueo.1	-	1	149	c.23G>A	c.(22-24)cGa>cAa	p.R8Q		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	8					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTATACTTCGAAGAATTAC	0.363000														47			6		0	0	0.001168	0	0
ATP2B2	491	broad.mit.edu	37	3	10391825	10391825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:10391825G>A	uc003bvt.3	-	15	2814	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	ATP2B2_uc003bvv.3_Missense_Mutation_p.S747F|ATP2B2_uc003bvw.3_Missense_Mutation_p.S747F|ATP2B2_uc010hdo.3_Missense_Mutation_p.S497F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	792					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCCGTTGGGGAGGAGCGAGC	0.637000														33			4		0	0	0.001168	0	0
SRL	6345	broad.mit.edu	37	16	4242550	4242550	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4242550G>A	uc002cvz.4	-	5	1039	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	801	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGAGGGCGTGGATGCGGACCC	0.517000														133			15		0	0	0.004990	0	0
FBN3	84467	broad.mit.edu	37	19	8155007	8155007	+	Missense_Mutation	SNP	C	T	T	rs149936210		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8155007C>T	uc002mjf.3	-	47	6177	c.6160G>A	c.(6160-6162)Gaa>Aaa	p.E2054K	FBN3_uc002mje.3_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2054	TB 8.					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						GGACACAGTTCGCAGGGGTCT	0.612000														21			7		0	0	0.001984	0	0
CEP112	201134	broad.mit.edu	37	17	64026062	64026062	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:64026062T>A	uc002jfl.3	-	12	1517	c.1298A>T	c.(1297-1299)aAa>aTa	p.K433I	CEP112_uc010deo.3_Missense_Mutation_p.K175I|CEP112_uc002jfm.3_Missense_Mutation_p.K433I|CEP112_uc010dep.2_Missense_Mutation_p.K391I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	433						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTGAATTAATTTCTGCCTCTG	0.383000														57			16		0	0	0.004007	0	0
IQUB	154865	broad.mit.edu	37	7	123097516	123097516	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:123097516G>A	uc003vkn.3	-	11	2689	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	IQUB_uc011kny.2_Silent_p.S37S|IQUB_uc003vko.3_Silent_p.S704S|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	704										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCACTCCAGGGATTTATTCC	0.453000														105			10		0	0	0.008291	0	0
NUP153	9972	broad.mit.edu	37	6	17637557	17637557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:17637557G>A	uc003ncd.1	-	15	2491	c.2291C>T	c.(2290-2292)tCg>tTg	p.S764L	NUP153_uc011dje.1_Missense_Mutation_p.S795L|NUP153_uc010jpl.1_Missense_Mutation_p.S722L	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	764					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGCACTTTCCGAAACCACTGT	0.433000														69			8		0	0	0.003080	0	0
FBXW9	84261	broad.mit.edu	37	19	12800361	12800361	+	Silent	SNP	G	A	A	rs139718306		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:12800361G>A	uc010dyx.2	-	7	1290	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	FBXW9_uc010xmp.2_Non-coding_Transcript|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Silent_p.T410T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	440							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCACCCGGATGGTCTTGTCAG	0.617000														44			10		0	0	0.013537	0	0
PRKD2	25865	broad.mit.edu	37	19	47177968	47177969	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47177968_47177969GG>AA	uc002pfh.3	-	18	2790_2791	c.2448_2449CC>TT	c.(2446-2451)ctccga>ctTTga	p.R817*	PRKD2_uc010eks.3_Nonsense_Mutation_p.R220*|PRKD2_uc010ekt.3_Nonsense_Mutation_p.R84*|PRKD2_uc002pfg.3_Nonsense_Mutation_p.R660*|PRKD2_uc002pfi.3_Nonsense_Mutation_p.R817*|PRKD2_uc002pfj.3_Nonsense_Mutation_p.R817*|PRKD2_uc010xye.2_Nonsense_Mutation_p.R827*|PRKD2_uc002pfk.3_Nonsense_Mutation_p.R660*|LOC100506068_uc021uwh.1_Intron	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	817					T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCAGCTCTCGGAGGTCCAGCC	0.604000														18			5		0	0	0.004672	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366628	69366628	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:69366628T>G	uc009xpn.1	-	2	402	c.279A>C	c.(277-279)gaA>gaC	p.E93D	CTNNA3_uc001jmw.2_Missense_Mutation_p.E93D|CTNNA3_uc001jmx.4_Missense_Mutation_p.E93D|CTNNA3_uc009xpo.1_Missense_Mutation_p.K9T|CTNNA3_uc001jna.2_Missense_Mutation_p.E105D	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	93					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTTTGCGAACTTCCTCAAGTG	0.418000														83			9		0	0	0.004482	0	0
LMO2	4005	broad.mit.edu	37	11	33881075	33881075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:33881075G>A	uc001mve.3	-	2	743	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	LMO2_uc001mvc.3_Missense_Mutation_p.R95C|LMO2_uc001mvd.3_Missense_Mutation_p.R95C|LMO2_uc010rel.2_Missense_Mutation_p.R102C|LMO2_uc010rem.2_Missense_Mutation_p.R171C	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	102	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCATAGGCACGAATCCGCTTG	0.478000			T	TRD@	T-ALL									25			10		0	0	0.013537	0	0
ZNF394	84124	broad.mit.edu	37	7	99097667	99097667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99097667C>T	uc003uqs.3	-	0	211	c.50G>A	c.(49-51)gGa>gAa	p.G17E	ZNF394_uc003uqt.3_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.G17E|ZNF394_uc022ahz.1_Non-coding_Transcript	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	17					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	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)					CACCCAGGGTCCCAACTCGGC	0.607000														57			13		0	0	0.004007	0	0
KLF17	128209	broad.mit.edu	37	1	44595869	44595869	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:44595869G>A	uc001clp.3	+	2	983	c.925_splice	c.e2+1	p.G309_splice		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	309					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)					AAGCACACAGGTGAAGGAGGT	0.552000														78			7		0	0	0.003080	0	0
DDX46	9879	broad.mit.edu	37	5	134147456	134147456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:134147456C>T	uc003kzw.3	+	17	2525	c.2357C>T	c.(2356-2358)gCt>gTt	p.A786V	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	786					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGAACAAGCTTTGGCTAAT	0.363000														51			11		0	0	0.008291	0	0
NLRP4	147945	broad.mit.edu	37	19	56369483	56369483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56369483G>A	uc002qmd.4	+	2	1146	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NLRP4_uc002qmf.3_Missense_Mutation_p.E167K|NLRP4_uc010etf.3_Missense_Mutation_p.E73K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	242	NACHT.						ATP binding	p.E242K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGGCTTGAACGAACCCGATTC	0.572000														60			10		0	0	0.006214	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969363	1969363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:1969363G>A	uc021qsx.1	-	18	2119	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.L494F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	630						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCAGGAAAAGAACTCGCTTC	0.547000														16			3		0	0	0.000602	0	0
LZTR1	8216	broad.mit.edu	37	22	21340177	21340178	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:21340177_21340178CC>TT	uc002zto.3	+	2	414_415	c.311_312CC>TT	c.(310-312)tcc>tTT	p.S104F	LZTR1_uc002ztn.3_Missense_Mutation_p.S63F|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	104					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGGT	0.584000														23			12		0	0	0.004672	0	0
ABCG2	9429	broad.mit.edu	37	4	89042886	89042886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:89042886C>T	uc003hrg.3	-	5	1083	c.590G>A	c.(589-591)gGa>gAa	p.G197E	ABCG2_uc003hrh.3_Missense_Mutation_p.G197E|ABCG2_uc003hrf.3_Missense_Mutation_p.G67E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	197	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AAGCTCCATTCCTATACTAGT	0.408000														35			11		0	0	0.010729	0	0
OR8B4	283162	broad.mit.edu	37	11	124294000	124294000	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124294000G>A	uc010sak.2	-	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTAAGTAGGTGAATGTCCCTG	0.458000														11			5		0	0	0.001168	0	0
C11orf1	64776	broad.mit.edu	37	11	111754511	111754511	+	Silent	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:111754511T>A	uc001pme.3	+	3	1155	c.480T>A	c.(478-480)ccT>ccA	p.P160P	C11orf1_uc001pmd.3_Silent_p.P120P	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	Homo sapiens chromosome 11 open reading frame 1 (C11orf1), mRNA.	120						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		AGCGAGAGCCTCACTGGTTCC	0.398000														57			19		0	0	0.014323	0	0
NT5E	4907	broad.mit.edu	37	6	86201773	86201773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:86201773G>A	uc003pko.4	+	7	1995	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	NT5E_uc010kbr.3_Missense_Mutation_p.R430Q	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	480					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ACCAAGTGTCGAGTGCCCAGT	0.428000														74			22		0	0	0.014323	0	0
MUC16	94025	broad.mit.edu	37	19	9084607	9084607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9084607G>A	uc002mkp.3	-	0	7412	c.7208C>T	c.(7207-7209)tCc>tTc	p.S2403F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2403	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						AGATGGGGAGGAACTTGCTGT	0.458000														20			8		0	0	0.003080	0	0
SF3B1	23451	broad.mit.edu	37	2	198285164	198285164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:198285164G>A	uc002uue.3	-	3	451	c.403C>T	c.(403-405)Cct>Tct	p.P135S	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.P135S|SF3B1_uc002uug.3_Missense_Mutation_p.P135S	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	135					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)			TCTGCAAAAGGATCAAGACGC	0.383000			Mis		myelodysplastic syndrome									57			5		0	0	0.001168	0	0
MIER2	54531	broad.mit.edu	37	19	313632	313632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:313632C>T	uc002lok.1	-	7	676	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	223	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		AGCTGGTCTTCGTTCTCGTAG	0.622000														42			10		0	0	0.010729	0	0
OTOA	146183	broad.mit.edu	37	16	21689852	21689852	+	Missense_Mutation	SNP	C	T	T	rs144912852		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:21689852C>T	uc002djh.3	+	0	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC23117_uc021tel.1_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	6					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373000														57			6		0	0	0.004482	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074299	46074299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:46074299G>A	uc002zfs.1	-	0	278	c.233C>T	c.(232-234)cCt>cTt	p.P78L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	78	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						ACACAAAACAGGCTTGCAGCT	0.652000														30			4		0	0	0.009096	0	0
GALNT8	26290	broad.mit.edu	37	12	4829879	4829879	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:4829879C>T	uc001qne.1	+	0	128	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	12						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAGCCCTCTTCATTGGGCTGA	0.512000														51			8		0	0	0.008291	0	0
NR2F1	7025	broad.mit.edu	37	5	92929319	92929319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:92929319C>T	uc003kkj.3	+	2	2730	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	NR2F1_uc021ybj.1_Missense_Mutation_p.S297L|NR2F1_uc021ybk.1_Missense_Mutation_p.S323L	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	348					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.S348L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CAGGAGAAGTCGCAGTGCGCA	0.647000														47			9		0	0	0.006214	0	0
TECTA	7007	broad.mit.edu	37	11	120979943	120979943	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:120979943C>T	uc010rzo.2	+	2	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	74					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGTTGTTTCCTTCAATGTGC	0.458000														15			6		0	0	0.001168	0	0
NUDT12	83594	broad.mit.edu	37	5	102894904	102894904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:102894904G>A	uc003koi.3	-	2	565	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	NUDT12_uc011cvb.2_Missense_Mutation_p.P140S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	158						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTAACCAAGGGATTTAAATCT	0.403000														40			4		0	0	0.009096	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8219387	8219387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8219387C>T	uc002glc.3	+	8	1780	c.1625C>T	c.(1624-1626)cCt>cTt	p.P542L	ARHGEF15_uc002gld.3_Missense_Mutation_p.P542L|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P431L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	542	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGAGCCTCCCTAAGTGTGAG	0.687000														10			5		0	0	0.000602	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713418	30713419	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:30713418_30713419CC>TT	uc003ceo.3	+	3	1125_1126	c.743_744CC>TT	c.(742-744)acc>aTT	p.T248I	TGFBR2_uc021wut.1_Missense_Mutation_p.T126I|TGFBR2_uc003cen.3_Missense_Mutation_p.T273I	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	248	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAGCTGGACACCCTGGTGGGGA	0.525000														34			5		0	0	0.004672	0	0
TPX2	22974	broad.mit.edu	37	20	30347932	30347932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30347932C>T	uc002wwp.1	+	3	877	c.179C>T	c.(178-180)cCt>cTt	p.P60L	TPX2_uc010gdv.1_Missense_Mutation_p.P60L	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	60					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GGCAAAACTCCTTTGAGAAAG	0.418000														51			22		0	0	0.014323	0	0
UBE2C	11065	broad.mit.edu	37	20	44444315	44444315	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:44444315C>T	uc002xpm.3	+	3	432	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	UBE2C_uc002xpl.3_Intron|UBE2C_uc002xpn.3_Silent_p.L79L|UBE2C_uc002xpo.3_Silent_p.L89L|UBE2C_uc002xpp.3_Intron|UBE2C_uc002xpq.3_Silent_p.L79L	NM_007019	NP_861518	O00762	UBE2C_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C (UBE2C), transcript variant 1, mRNA.	118					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCTGGACATCCTGAAGGAAAA	0.552000														53			6		0	0	0.001168	0	0
DNMBP	23268	broad.mit.edu	37	10	101637062	101637062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:101637062C>T	uc001kqj.2	-	16	4672	c.4580G>A	c.(4579-4581)cGa>cAa	p.R1527Q	DNMBP_uc010qpl.1_Missense_Mutation_p.R463Q|DNMBP_uc001kqg.2_Missense_Mutation_p.R815Q|DNMBP_uc001kqh.2_Missense_Mutation_p.R1159Q	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1527	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATTTGGGTTTCGTGCCTTGAA	0.468000														112			9		0	0	0.001855	0	0
OR2G2	81470	broad.mit.edu	37	1	247752051	247752052	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247752051_247752052CC>TT	uc010pyy.2	+	0	390_391	c.390_391CC>TT	c.(388-393)tgccgt>tgTTgt	p.R131C		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGGCTGTCTGCCGTCCTCTCCA	0.545000														124			19		0	0	0.004672	0	0
MUC4	4585	broad.mit.edu	37	3	195486082	195486082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:195486082C>T	uc021xjp.1	-	16	15055	c.14899G>A	c.(14899-14901)Ggg>Agg	p.G4967R	MUC4_uc003fuz.3_Missense_Mutation_p.G565R|MUC4_uc003fva.3_Missense_Mutation_p.G447R|MUC4_uc003fvb.3_Missense_Mutation_p.G483R|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G483R|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.G476R|MUC4_uc021xjn.1_Missense_Mutation_p.G656R|MUC4_uc021xjo.1_Missense_Mutation_p.G447R|MUC4_uc021xjg.1_Missense_Mutation_p.G447R|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G531R|MUC4_uc021xjj.1_Missense_Mutation_p.G531R|MUC4_uc021xjk.1_Missense_Mutation_p.G708R|MUC4_uc021xjl.1_Missense_Mutation_p.G447R|MUC4_uc003fvo.3_Missense_Mutation_p.G731R|MUC4_uc003fvp.3_Missense_Mutation_p.G680R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1724					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)		GTGGTCTGCCCCTTGTAGGCT	0.537000														186			12		0	0	0.013537	0	0
CDH4	1002	broad.mit.edu	37	20	60448930	60448930	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:60448930A>C	uc002ybn.2	+	6	1112	c.1024A>C	c.(1024-1026)Aca>Cca	p.T342P	CDH4_uc002ybr.2_Missense_Mutation_p.T305P|CDH4_uc002ybp.2_Missense_Mutation_p.T268P	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	342	Cadherin 2.				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)			AGATATCGTCACAGTGGCGGC	0.662000														52			5		0	0	0.000602	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900452	151900453	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151900452_151900453CC>TT	uc022chj.1	-	0	348_349	c.348_349GG>AA	c.(346-351)ttggtt>ttAAtt	p.V117I	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.V117I|MAGEA12_uc022chi.1_Missense_Mutation_p.V117I|MAGEA12_uc004fgc.3_Missense_Mutation_p.V117I|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.	117	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)					AGAAAATGAACCAACTCAGCCA	0.510000														32			16		0	0	0.004672	0	0
DNMT1	1786	broad.mit.edu	37	19	10270588	10270588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10270588G>A	uc002mng.3	-	14	1232	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	DNMT1_uc010xlc.2_Missense_Mutation_p.P367L|DNMT1_uc002mnh.3_Missense_Mutation_p.P246L|DNMT1_uc010xld.2_Missense_Mutation_p.P351L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	351	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AATGCACTTGGGAGGGTGGGT	0.617000														74			6		0	0	0.001984	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951608	119951608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:119951608G>A	uc010inb.3	+	3	1874	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	SYNPO2_uc010ina.3_Missense_Mutation_p.G560S|SYNPO2_uc003icm.4_Missense_Mutation_p.G560S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.G488S|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	560						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTGAGTCATGGTCTTGGCCA	0.517000														25			14		0	0	0.007413	0	0
OR51G2	81282	broad.mit.edu	37	11	4936029	4936029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:4936029G>A	uc001lzr.1	-	0	865	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACAGGAGGAAAGAGAAGA	0.493000														26			5		0	0	0.000602	0	0
CR2	1380	broad.mit.edu	37	1	207644832	207644832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207644832C>T	uc001hfw.3	+	8	1677	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	CR2_uc001hfv.3_Missense_Mutation_p.R520C|CR2_uc009xch.3_Missense_Mutation_p.R520C|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	520	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TATGGAGATTCGTCTTTGTAA	0.383000														61			13		0	0	0.003163	0	0
ABCA2	20	broad.mit.edu	37	9	139913674	139913674	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:139913674G>A	uc004ckm.1	-	10	1647	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	ABCA2_uc022bpy.1_Silent_p.L434L|ABCA2_uc022bpz.1_Silent_p.L504L|ABCA2_uc011mem.1_Silent_p.L503L|ABCA2_uc004ckl.1_Silent_p.L434L|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Silent_p.L280L	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	503					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCTGCTCCAGGAAGCTGCGG	0.652000														33			4		0	0	0.009096	0	0
OR5P2	120065	broad.mit.edu	37	11	7818247	7818247	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7818247G>A	uc001mfp.1	-	0	243	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCACCAGGAAGTTTACAA	0.483000														75			17		0	0	0.008871	0	0
TLR9	54106	broad.mit.edu	37	3	52257214	52257214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52257214C>T	uc003ddb.3	-	4	1619	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	TLR9_uc003dda.2_Missense_Mutation_p.G373D	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	373					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAAGAAGATGCCGTGCATGTC	0.597000														61			10		0	0	0.008291	0	0
GABRE	2564	broad.mit.edu	37	X	151138708	151138708	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151138708G>A	uc004ffi.3	-	1	277	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	75					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R75M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGTGTTCAGGATGCGAGAG	0.537000														48			19		0	0	0.014323	0	0
KANSL1	284058	broad.mit.edu	37	17	44109634	44109635	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:44109634_44109635GG>AA	uc002ikc.3	-	13	3339_3340	c.2868_2869CC>TT	c.(2866-2871)accccc>acTTcc	p.P957S	KANSL1_uc002ikd.3_Missense_Mutation_p.P957S|KANSL1_uc010dav.3_Missense_Mutation_p.P956S|KANSL1_uc010wkb.2_Missense_Mutation_p.P288S|KANSL1_uc010wkc.2_Missense_Mutation_p.P225S	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	957						MLL1 complex	protein binding										CCCAGCTGGGGGGTTGTCCGGC	0.564000														77			7		0	0	0.004672	0	0
TPTE	7179	broad.mit.edu	37	21	10951266	10951266	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10951266C>T	uc002yip.1	-	10	814	c.446_splice	c.e10+1	p.R149_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.R131_splice|TPTE_uc002yir.1_Splice_Site_p.R111_splice|TPTE_uc010gkv.1_Splice_Site_p.R11_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	149					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAACTTACCTTTCTACAAA	0.363000														49			5		0	0	0.001168	0	0
FAM76B	143684	broad.mit.edu	37	11	95512104	95512104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:95512104G>A	uc001pfn.2	-	7	1022	c.710C>T	c.(709-711)tCa>tTa	p.S237L	FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	237										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTATCTGCTGACTGATTTAT	0.348000														15			6		0	0	0.001168	0	0
FANCE	2178	broad.mit.edu	37	6	35428335	35428335	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35428335C>T	uc003oko.1	+	7	1508	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	FANCE_uc010jvw.1_Silent_p.I434I	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	441					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCAGACAGATCTTGGAGCTGC	0.572000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					42			5		0	0	0.001168	0	0
C12orf63	374467	broad.mit.edu	37	12	97133775	97133775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:97133775C>T	uc021rcc.1	+	17	2360	c.2282C>T	c.(2281-2283)tCa>tTa	p.S761L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	761										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTCCAGGATTCAAAACTTTTT	0.313000														32			4		0	0	0.000602	0	0
OR11G2	390439	broad.mit.edu	37	14	20666407	20666407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20666407G>A	uc010tlb.2	+	0	913	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		atctaagaatgaagctggaaa	0.453000														83			14		0	0	0.001855	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489868	50489868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:50489868C>T	uc001zxw.3	+	1	882	c.650C>T	c.(649-651)tCc>tTc	p.S217F	SLC27A2_uc010bes.3_Missense_Mutation_p.S217F|SLC27A2_uc001zxx.3_5'UTR	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	217					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTCACTTTTTCCACTCCTGCC	0.398000														40			9		0	0	0.006214	0	0
ZNF684	127396	broad.mit.edu	37	1	41013040	41013040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:41013040C>T	uc001cft.2	+	4	1296	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TCAGATAACTCATACAGGAGA	0.373000														56			16		0	0	0.004007	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649091	54649092	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:54649091_54649092CC>TT	uc003jpy.4	+	13	1793_1794	c.1527_1528CC>TT	c.(1525-1530)ttccga>ttTTga	p.R510*	SKIV2L2_uc011cqi.2_Nonsense_Mutation_p.R409*	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	510	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGAAGGATTTCCGATGGGTAAG	0.356000														49			6		0	0	0.004672	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812806	31812806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:31812806C>T	uc002yod.3	+	0	161	c.161C>T	c.(160-162)aCc>aTc	p.T54I		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	54						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTCAGGAGACCTACTGTGAG	0.498000														81			8		0	0	0.003080	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45702582	45702582	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:45702582C>G	uc001zve.3	+	2	1397	c.1288C>G	c.(1288-1290)Cct>Gct	p.P430A	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	430						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCAGGACAATCCTGTGATTGA	0.333000														41			6		0	0	0.001168	0	0
CCDC60	160777	broad.mit.edu	37	12	119978455	119978455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:119978455G>A	uc001txe.3	+	13	2053	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	530										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCCTCAAGAGGATTACATCAG	0.532000														85			5		0	0	0.000602	0	0
ECT2L	345930	broad.mit.edu	37	6	139186178	139186178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:139186178C>T	uc003qif.2	+	11	1662	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	ECT2L_uc021zfx.1_Missense_Mutation_p.S446F|ECT2L_uc011edq.1_Missense_Mutation_p.S377F	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	446					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCTCTTCCATCTACTTC	0.448000			"""N, Splice, Mis"""		ETP ALL									43			4		0	0	0.009096	0	0
MXRA5	25878	broad.mit.edu	37	X	3240451	3240451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:3240451G>A	uc004crg.4	-	4	3432	c.3275C>T	c.(3274-3276)tCc>tTc	p.S1092F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1092						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)				CAAAGTGATGGATTTGCTCTC	0.493000														32			6		0	0	0.001168	0	0
BACH1	571	broad.mit.edu	37	21	30698863	30698863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:30698863C>T	uc002ynk.3	+	2	961	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	BACH1_uc002ynj.3_Missense_Mutation_p.R240C|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	240						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGACAGAGTCCGTACTGGGGA	0.443000														42			10		0	0	0.006214	0	0
LRP8	7804	broad.mit.edu	37	1	53726199	53726199	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:53726199G>A	uc001cvi.2	-	12	2230	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L	LRP8_uc001cvh.2_Silent_p.L218L|LRP8_uc001cvj.2_Silent_p.L665L|LRP8_uc001cvk.2_Silent_p.L495L|LRP8_uc001cvl.2_Silent_p.L536L|LRP8_uc001cvm.1_Silent_p.L250L	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	665					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TTCTCAGCCAGGATGGAGATT	0.532000														85			6		0	0	0.003080	0	0
EDNRA	1909	broad.mit.edu	37	4	148453722	148453722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:148453722G>A	uc003iky.3	+	3	1143	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Silent_p.*162*|EDNRA_uc010ipf.1_Intron	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	205					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AACTGCCATTGAAATTGTCTC	0.453000														98			17		0	0	0.004007	0	0
PTPRO	5800	broad.mit.edu	37	12	15742453	15742453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:15742453C>T	uc001rcv.2	+	24	3945	c.3475C>T	c.(3475-3477)Cat>Tat	p.H1159Y	PTPRO_uc001rcw.2_Missense_Mutation_p.H1131Y|PTPRO_uc001rcx.2_Missense_Mutation_p.H348Y|PTPRO_uc001rcy.2_Missense_Mutation_p.H348Y|PTPRO_uc001rcz.2_Missense_Mutation_p.H320Y|PTPRO_uc001rda.2_Missense_Mutation_p.H320Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1159	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H1159P(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATTCGGGATCATGAGTTTGT	0.443000														77			15		0	0	0.003163	0	0
FAT4	79633	broad.mit.edu	37	4	126336808	126336808	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126336808G>A	uc003ifj.4	+	4	6690	c.6690G>A	c.(6688-6690)caG>caA	p.Q2230Q	FAT4_uc011cgp.2_Silent_p.Q528Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2230	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACTGTTCAGGCAACAGATC	0.443000														74			5		0	0	0.001984	0	0
RP1L1	94137	broad.mit.edu	37	8	10465121	10465121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:10465121C>T	uc003wtc.3	-	3	6716	c.6487G>A	c.(6487-6489)Ggt>Agt	p.G2163S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2163					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)		GCCTCTATACCTTCTGACTCT	0.602000														131			14		0	0	0.001855	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103800	39103800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:39103800G>A	uc004abi.3	-	15	2716	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	CNTNAP3_uc004abj.3_Missense_Mutation_p.S825F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.S826F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	826	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACCCCGGAGGAAACTGTGGT	0.478000														27			5		0	0	0.001984	0	0
C1orf127	148345	broad.mit.edu	37	1	11008428	11008428	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:11008428G>A	uc010oao.2	-	11	1764	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	C1orf127_uc001ars.2_Silent_p.F423F|C1orf127_uc001arr.2_Silent_p.F431F	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	439										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)		CCAATGGCTGGAACTCCTCAC	0.647000														33			5		0	0	0.000602	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049344	42049344	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:42049344G>A	uc001cgz.4	-	3	2338	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	HIVEP3_uc001cha.4_Silent_p.I375I|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	375	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTGCTCATCGATCACCTTCT	0.562000														60			11		0	0	0.010729	0	0
CCNL1	57018	broad.mit.edu	37	3	156866200	156866200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:156866200G>A	uc003fbf.3	-	10	2010	c.1411C>T	c.(1411-1413)Cgt>Tgt	p.R471C	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.R265C|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	471					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GATCGAGAACGAGATTTTTTC	0.448000														98			8		0	0	0.003080	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559323	1559323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:1559323C>T	uc010gai.3	-	1	193	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SIRPB1_uc002wfk.4_Missense_Mutation_p.E32K	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	32	Ig-like V-type.				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						ACCTGTAGCTCGTCCTCACCT	0.507000														18			4		0	0	0.009096	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858626	9858626	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858626G>A	uc010uym.2	-	13	3085	c.2775C>T	c.(2773-2775)atC>atT	p.I925I	GRIN2A_uc002czo.4_Silent_p.I925I|GRIN2A_uc010uyn.2_Silent_p.I768I|GRIN2A_uc002czr.4_Silent_p.I925I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	925					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|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACCTCTTTGGATGAAGTCAG	0.448000														146			17		0	0	0.004990	0	0
PSMD2	5708	broad.mit.edu	37	3	184026546	184026546	+	Silent	SNP	C	T	T	rs11545171		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:184026546C>T	uc003fnn.1	+	20	2628	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	PSMD2_uc011brj.1_Silent_p.F706F|PSMD2_uc011brk.1_Silent_p.F735F	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	865					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCACAGGGTTCCAGACGCATA	0.517000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			10		0	0	0.006214	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:227387341G>A	uc001hqr.3	-	3	1310	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_uc001hqs.3_Missense_Mutation_p.R123C|CDC42BPA_uc009xes.3_Missense_Mutation_p.R123C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R123C	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284000														58			5		0	0	0.001168	0	0
SIK1	150094	broad.mit.edu	37	21	44837515	44837515	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44837515G>A	uc002zdf.2	-	12	2011	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	628					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CAGGGGCGTGGAAGGGGCTCA	0.711000														10			4		0	0	0.009096	0	0
MYO7A	4647	broad.mit.edu	37	11	76868005	76868005	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76868005G>A	uc001oyb.2	+	6	962	c.690G>A	c.(688-690)gcG>gcA	p.A230A	MYO7A_uc010rsl.2_Silent_p.A230A|MYO7A_uc010rsm.1_Silent_p.A219A|MYO7A_uc001oyc.2_Silent_p.A230A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	230	Myosin head-like.				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						TCGAGGGCGCGAAGATTGAGC	0.582000														42			8		0	0	0.004482	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492607	74492607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:74492607C>T	uc001dfy.4	-	7	1957	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	589										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCAATCATATCCATAACAAAT	0.294000														28			4		0	0	0.001168	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944175	73944176	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:73944175_73944176CC>TT	uc003uaq.3	+	8	1595_1596	c.1202_1203CC>TT	c.(1201-1203)ccc>cTT	p.P401L	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P433L|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P401L|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P401L	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	401						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R400H(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCAAGCGCCCCTGCACTTATG	0.619000														42			5		0	0	0.004672	0	0
ATPBD4	89978	broad.mit.edu	37	15	35703089	35703089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:35703089G>A	uc001zja.3	-	5	576	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	172										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		TGCTTATCAGGATCTAAACCT	0.383000														160			14		0	0	0.007413	0	0
SPTB	6710	broad.mit.edu	37	14	65239436	65239436	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:65239436C>T	uc001xht.3	-	24	5466	c.5415G>A	c.(5413-5415)acG>acA	p.T1805T	SPTB_uc001xhr.3_Silent_p.T1805T|SPTB_uc001xhs.3_Silent_p.T1805T|SPTB_uc001xhu.3_Silent_p.T1805T|SPTB_uc010aqi.3_Silent_p.T466T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1805					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCGGCACCCGTGTAGAAGT	0.657000														55			11		0	0	0.008291	0	0
LAMP3	27074	broad.mit.edu	37	3	182871915	182871915	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:182871915A>C	uc003flh.4	-	1	538	c.314T>G	c.(313-315)gTc>gGc	p.V105G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	105	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGGGTTGTGACCAGGGTGTA	0.507000														52			4		0	0	0.009096	0	0
IGHE	3497	broad.mit.edu	37	14	106067791	106067791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106067791G>A	uc001yrw.1	-	1	329	c.317C>T	c.(316-318)tCg>tTg	p.S106L	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S53L|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GTCTGTGGACGATGGAGTGTG	0.597000														134			34		0	0	0.009718	0	0
VPS13D	55187	broad.mit.edu	37	1	12343669	12343669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12343669C>T	uc001atv.3	+	20	5651	c.5510C>T	c.(5509-5511)tCc>tTc	p.S1837F	VPS13D_uc001atw.3_Missense_Mutation_p.S1837F|VPS13D_uc001atx.3_Missense_Mutation_p.S1025F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1837					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATCGGCTCCACTGCAGAC	0.483000														100			10		0	0	0.013537	0	0
RPL3L	6123	broad.mit.edu	37	16	1996721	1996721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1996721G>A	uc002cnh.3	-	6	903	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	286					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCCGATGCGGAAGATCTGC	0.627000														15			6		0	0	0.001984	0	0
VEGFC	7424	broad.mit.edu	37	4	177608423	177608423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:177608423G>A	uc003ius.1	-	5	1493	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	355	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CATTTTCCAGGATTTAGGGGT	0.438000														124			11		0	0	0.010729	0	0
C15orf55	256646	broad.mit.edu	37	15	34648432	34648432	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:34648432G>A	uc010ucc.2	+	7	2605	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	C15orf55_uc010ucd.2_Silent_p.R731R|C15orf55_uc001zif.3_Silent_p.R713R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	713						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)		CTGGGGAGAGGGACGATGTCT	0.552000			T	"""BRD3, BRD4"""	lethal midline carcinoma									48			7		0	0	0.004482	0	0
ABP1	26	broad.mit.edu	37	7	150554840	150554840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:150554840C>T	uc003why.1	+	2	5500	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	ABP1_uc003whz.1_Missense_Mutation_p.R428W|ABP1_uc003wia.1_Missense_Mutation_p.R428W	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	428					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGTGCCCCTTCGGCGGCACTT	0.542000														43			5		0	0	0.000602	0	0
SPEN	23013	broad.mit.edu	37	1	16202812	16202812	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:16202812C>T	uc001axk.1	+	2	724	c.520C>T	c.(520-522)Cga>Tga	p.R174*	SPEN_uc010obp.1_Nonsense_Mutation_p.R133*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	174	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAGAGATCCTCGAGAGCGGAC	0.502000														23			5		0	0	0.000602	0	0
ZNF808	388558	broad.mit.edu	37	19	53067586	53067586	+	RNA	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53067586T>G	uc002pzq.2	+	3		c.4098T>G						Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTGGACATGTTTTATTGGGAA	0.358000														12			4		0	0	0.009096	0	0
EOMES	8320	broad.mit.edu	37	3	27761750	27761750	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:27761750G>A	uc003cdy.3	-	1	948	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EOMES_uc003cdx.3_Silent_p.F316F|EOMES_uc010hfn.2_Silent_p.F316F|EOMES_uc011axc.1_Silent_p.F21F	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	316					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F316F(4)|p.F316L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCACCTCTACGAACACATTGT	0.512000														84			16		0	0	0.004007	0	0
RER1	11079	broad.mit.edu	37	1	2330920	2330920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2330920C>T	uc001aje.2	+	3	444	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	RER1_uc001ajf.2_Missense_Mutation_p.P85S	NM_007033	NP_008964	O15258	RER1_HUMAN	Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.	85					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TTTTCTTTCTCCCAAAGTGGA	0.488000														57			5		0	0	0.001984	0	0
ITGA3	3675	broad.mit.edu	37	17	48155608	48155608	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48155608A>T	uc010dbm.3	+	17	2721	c.2257A>T	c.(2257-2259)Act>Tct	p.T753S	ITGA3_uc010dbl.3_Missense_Mutation_p.T753S	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.	753					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CATGATCCTCACTCTGCTGGT	0.582000														69			9		0	0	0.001855	0	0
SRPX2	27286	broad.mit.edu	37	X	99917314	99917314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:99917314C>T	uc004egb.3	+	3	785	c.305C>T	c.(304-306)tCg>tTg	p.S102L		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	102	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGAAGGAGGTCGGTGCAATGC	0.552000														50			14		0	0	0.004990	0	0
C10orf137	26098	broad.mit.edu	37	10	127426936	127426937	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:127426936_127426937CC>TT	uc001liq.1	+	14	2196_2197	c.1903_1904CC>TT	c.(1903-1905)ccg>TTg	p.P635L	C10orf137_uc001lin.3_Missense_Mutation_p.P601L|C10orf137_uc001lip.1_Missense_Mutation_p.P339L|C10orf137_uc001lio.1_Missense_Mutation_p.P601L|C10orf137_uc001lir.3_Missense_Mutation_p.P129L|C10orf137_uc001lis.1_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACTCCAATCCCGTTAAAATAT	0.431000														55			8		0	0	0.004672	0	0
LILRA1	11024	broad.mit.edu	37	19	55110717	55110717	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55110717C>T	uc002qgh.1	+	7	1460	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	LILRA1_uc010yfh.2_Silent_p.L426L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	426					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L426L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGAGACCCTCAGCCCACCAC	0.453000														27			4		0	0	0.009096	0	0
FGF12	2257	broad.mit.edu	37	3	191888276	191888276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:191888276G>A	uc003fsx.3	-	3	1410	c.584C>T	c.(583-585)tCa>tTa	p.S195L	FGF12_uc003fsy.3_Missense_Mutation_p.S133L	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	195					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAAATGTGATGAGGGCTTGGT	0.438000														72			14		0	0	0.001855	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461444	76461444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:76461444G>A	uc002fex.1	+	2	634	c.495G>A	c.(493-495)tgG>tgA	p.W165*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.W161*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.W74*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.W137*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.W137*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	162	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTGGAATGGAACCCCAAGG	0.413000														75			6		0	0	0.001168	0	0
GPR116	221395	broad.mit.edu	37	6	46826169	46826169	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:46826169C>T	uc003oyo.3	-	16	3760	c.3471G>A	c.(3469-3471)acG>acA	p.T1157T	GPR116_uc011dwj.1_Silent_p.T712T|GPR116_uc011dwk.1_Silent_p.T586T|GPR116_uc003oyp.3_Silent_p.T1015T|GPR116_uc003oyq.3_Silent_p.T1157T|GPR116_uc010jzi.1_Silent_p.T829T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1157					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATTCTTCCTCGTATAGACTT	0.557000														20			8		0	0	0.004482	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519087	113519087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:113519087C>T	uc010ljy.1	-	3	2091	c.2060G>A	c.(2059-2061)gGa>gAa	p.G687E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	687					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCTCTTTTTCCCCACACGTC	0.398000														240			20		0	0	0.012319	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658334	33658334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:33658334G>A	uc003jia.1	-	6	1308	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S382L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	382	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S382S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGGAGTCCCGAATCTTCATT	0.507000										HNSCC(64;0.19)				78			17		0	0	0.004990	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277500	105277500	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:105277500C>T	uc010npd.3	-	3	1474	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	SERPINA7_uc004eme.2_Silent_p.T413T	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	413					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.T413T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACTACGCTTCCGTTGGGTTCA	0.393000														79			11		0	0	0.008291	0	0
TRIM69	140691	broad.mit.edu	37	15	45059798	45059798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:45059798G>A	uc001zuf.2	+	7	2226	c.1331G>A	c.(1330-1332)gGc>gAc	p.G444D	TRIM69_uc001zug.1_Missense_Mutation_p.G444D|TRIM69_uc001zuh.1_Missense_Mutation_p.G285D|TRIM69_uc001zui.1_Missense_Mutation_p.G240D|TRIM69_uc010bdy.1_Missense_Mutation_p.G223D	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	444	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GACAAGGTGGGCATATACCTG	0.408000														47			7		0	0	0.003080	0	0
OBSL1	23363	broad.mit.edu	37	2	220428326	220428326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220428326G>A	uc010fwk.3	-	6	2745	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Missense_Mutation_p.P811S|OBSL1_uc002vmi.3_Missense_Mutation_p.P811S	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	811	Ig-like 6.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGTTCTCGGGGGTCCACGATG	0.587000														52			6		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179569978	179569978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179569978C>T	uc021vsy.1	-	99	26020	c.25795G>A	c.(25795-25797)Gga>Aga	p.G8599R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5260R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9526	Ig-like 68.						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)			TCAGTGATTCCATACATGCGG	0.378000														53			14		0	0	0.002450	0	0
LAMA1	284217	broad.mit.edu	37	18	6942202	6942202	+	Missense_Mutation	SNP	G	A	A	rs147708500		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:6942202G>A	uc002knm.3	-	62	9198	c.9104C>T	c.(9103-9105)tCg>tTg	p.S3035L	LAMA1_uc002knk.3_Missense_Mutation_p.S365L|LAMA1_uc002knl.3_Missense_Mutation_p.S488L|LAMA1_uc010wzj.2_Missense_Mutation_p.S2511L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	3035	Laminin G-like 5.				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)	CCCGCGGAACGAGGTCTGGCT	0.483000														29			6		0	0	0.001984	0	0
IDO2	169355	broad.mit.edu	37	8	39873104	39873104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:39873104C>T	uc010lwy.1	+	10	1488	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.L157F|IDO2_uc003xnp.1_Missense_Mutation_p.L157F	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	403					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGAGTCAATCCTTCACCCACG	0.577000														56			12		0	0	0.013537	0	0
HEPH	9843	broad.mit.edu	37	X	65480099	65480099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:65480099G>A	uc011moz.2	+	18	3493	c.3356G>A	c.(3355-3357)cGa>cAa	p.R1119Q	HEPH_uc004dwn.3_Missense_Mutation_p.R1068Q|HEPH_uc004dwo.3_Missense_Mutation_p.R798Q|HEPH_uc010nkr.3_Missense_Mutation_p.R876Q|HEPH_uc011mpa.2_Missense_Mutation_p.R1068Q	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1065					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTTTTTTCTCGAACAGGTAAG	0.473000														13			5		0	0	0.000602	0	0
GPC5	2262	broad.mit.edu	37	13	92797201	92797201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:92797201C>T	uc010tif.2	+	6	1886	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	507						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCGGGGGATCAGGAAGTGGA	0.433000														15			4		0	0	0.000602	0	0
MMEL1	79258	broad.mit.edu	37	1	2538438	2538438	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2538438C>T	uc001ajy.2	-	6	820	c.606G>A	c.(604-606)gcG>gcA	p.A202A	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	202					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACCTGTCCATCGCCACCGGCC	0.632000														62			5		0	0	0.001168	0	0
VEZF1	7716	broad.mit.edu	37	17	56051965	56051966	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56051965_56051966GG>AA	uc002ivf.1	-	5	1577_1578	c.1434_1435CC>TT	c.(1432-1437)caccct>caTTct	p.P479S		NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	479	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ATGGTGACAGGGTGTGCTATAT	0.495000														53			6		0	0	0.004672	0	0
BLM	641	broad.mit.edu	37	15	91308554	91308554	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91308554C>T	uc002bpr.3	+	8	2200	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	BLM_uc010uqh.2_Silent_p.L701L|BLM_uc010uqi.2_Silent_p.L326L|BLM_uc010bnx.3_Silent_p.L701L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	701	Helicase ATP-binding.				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)			GTTACCAGCTCCCTGCCTGTG	0.403000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					395			30		0	0	0.010818	0	0
RELT	84957	broad.mit.edu	37	11	73101834	73101835	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:73101834_73101835CC>GT	uc001otv.3	+	3	320_321	c.155_156CC>GT	c.(154-156)ccc>cGT	p.P52R	RELT_uc001otw.3_Missense_Mutation_p.P52R|RELT_uc009yto.1_5'UTR|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	52						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						AGGCCCTGCCCCCCAGGCACCT	0.668000														53			7		0	0	0.004672	0	0
STAB2	55576	broad.mit.edu	37	12	104042530	104042530	+	Missense_Mutation	SNP	G	A	A	rs139925581	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:104042530G>A	uc001tjw.3	+	9	1289	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	368					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTATGGAGCGACTCAGAGAA	0.453000														73			13		0	0	0.001855	0	0
ITGA10	8515	broad.mit.edu	37	1	145535801	145535801	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145535801G>A	uc001eoa.3	+	15	2065	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	ITGA10_uc010oyv.2_Silent_p.Q532Q|ITGA10_uc009wiw.3_Silent_p.Q520Q|ITGA10_uc010oyw.2_Silent_p.Q608Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	663					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)					GTGTGGTTCAGAGGGACTGTA	0.567000														72			6		0	0	0.001984	0	0
SALL1	6299	broad.mit.edu	37	16	51171260	51171260	+	Silent	SNP	C	T	T	rs145953478		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:51171260C>T	uc021tif.1	-	2	3769	c.3447G>A	c.(3445-3447)gcG>gcA	p.A1149A	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.A98A	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1246					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCCTTCATCGCCAGCCCGT	0.562000														32			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179544115	179544115	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179544115C>T	uc021vsy.1	-	138	30186	c.29961G>A	c.(29959-29961)gaG>gaA	p.E9987E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E6648E|TTN_uc010fre.1_Intron|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.	10914	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)			CAGGAACTTTCTCCTCTGGCT	0.383000														58			9		0	0	0.013537	0	0
MYH6	4624	broad.mit.edu	37	14	23874910	23874910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23874910C>T	uc001wjv.3	-	3	342	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MYH6_uc010akp.2_Missense_Mutation_p.A91T	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	91	Myosin head-like.				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)		GTCAGCATGGCCATGTCCTCA	0.577000														53			7		0	0	0.003080	0	0
NCOR1	9611	broad.mit.edu	37	17	15989718	15989718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:15989718G>A	uc002gpo.3	-	22	3324	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	NCOR1_uc002gpn.3_Missense_Mutation_p.P1035S|NCOR1_uc002gpp.1_Missense_Mutation_p.P926S|NCOR1_uc002gpq.1_Missense_Mutation_p.P111S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1019	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGCCTTCAGGGAGATTAGTT	0.443000														50			6		0	0	0.001168	0	0
ENC1	8507	broad.mit.edu	37	5	73931021	73931021	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:73931021G>A	uc003kdc.4	-	1	2421	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ENC1_uc011css.2_Silent_p.L357L|ENC1_uc021yao.1_Silent_p.L430L	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	430				LREGVSNAA -> RPRRRYNCAQ (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CGCCTTCTCGGAGTGGGGCCA	0.537000														44			13		0	0	0.001855	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:93017381C>T	uc022axs.1	-	5	1067	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D208N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D208N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D235N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D235N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D208N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D246N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D215N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D235N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D198N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	235	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000														69			7		0	0	0.001984	0	0
ELMO1	9844	broad.mit.edu	37	7	36917698	36917698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:36917698G>A	uc022abv.1	-	18	2449	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	ELMO1_uc003tfi.2_Missense_Mutation_p.S100L|ELMO1_uc003tfj.2_Missense_Mutation_p.S100L|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.S484L|ELMO1_uc003tfk.2_Missense_Mutation_p.S580L|ELMO1_uc010kxg.2_Missense_Mutation_p.S580L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	580	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGATTTGGCGAAAGCCGACA	0.418000														37			6		0	0	0.003080	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760716	7760716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:7760716G>A	uc002cys.2	+	15	2151	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	RBFOX1_uc002cyt.2_Missense_Mutation_p.R361Q|RBFOX1_uc010uyb.1_Missense_Mutation_p.R388Q|RBFOX1_uc002cyw.2_3'UTR|RBFOX1_uc002cyy.2_Missense_Mutation_p.R409Q|RBFOX1_uc002cyx.2_Missense_Mutation_p.R383Q|RBFOX1_uc010uyc.1_Missense_Mutation_p.R382Q	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	388					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTATATACCGAGGGGGATAC	0.438000														43			15		0	0	0.004990	0	0
UNC5D	137970	broad.mit.edu	37	8	35631864	35631864	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:35631864C>T	uc003xjr.2	+	15	2854	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	UNC5D_uc003xjs.2_Silent_p.F837F|UNC5D_uc003xju.2_Silent_p.F418F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	842					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGCACTTTCCCTGCACAGA	0.468000														71			15		0	0	0.004990	0	0
DNPEP	23549	broad.mit.edu	37	2	220246064	220246064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220246064G>A	uc002vle.2	-	12	1378	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	DNPEP_uc002vli.2_Missense_Mutation_p.P358L|DNPEP_uc010zlg.2_Missense_Mutation_p.P419L	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	401					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CACCTGCAGGGGGACCTTGAC	0.612000														167			22		0	0	0.010818	0	0
NCK2	8440	broad.mit.edu	37	2	106498441	106498441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:106498441C>T	uc002tdg.3	+	3	1160	c.884C>T	c.(883-885)gCc>gTc	p.A295V	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.A295V	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	295	SH2.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CGGCACCAGGCCGAGTGCGCC	0.687000														19			4		0	0	0.009096	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366372	64366372	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64366372G>A	uc001oam.1	+	5	1794	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	SLC22A12_uc009ypr.1_Silent_p.R374R|SLC22A12_uc001oal.1_Silent_p.R128R|SLC22A12_uc009yps.1_Silent_p.R315R|SLC22A12_uc001oan.1_Silent_p.R241R|SLC22A12_uc009ypt.3_Silent_p.R167R	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	349					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGCGCTTCCGGACCTGTATCT	0.667000														25			6		0	0	0.001168	0	0
MED13L	23389	broad.mit.edu	37	12	116445228	116445228	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:116445228C>T	uc001tvw.3	-	10	2281	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	742					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATTCTTTTTCAGGGAATCTT	0.413000														65			6		0	0	0.001168	0	0
ATP10D	57205	broad.mit.edu	37	4	47571048	47571048	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47571048C>T	uc003gxk.1	+	15	3212	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	ATP10D_uc003gxl.1_Silent_p.F264F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1016					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAAAGCAGTTCCTGGAACTGA	0.547000														44			6		0	0	0.001984	0	0
MYH2	4620	broad.mit.edu	37	17	10444001	10444001	+	Silent	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10444001A>T	uc010coi.3	-	10	1046	c.918T>A	c.(916-918)atT>atA	p.I306I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I306I|MYH2_uc010coj.3_Silent_p.I306I	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	306	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.L305L(1)		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						GGTTCGTGGTAATCAGAAGCA	0.378000														46			5		0	0	0.000602	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673799	120673799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:120673799G>A	uc003eec.4	+	2	342	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	STXBP5L_uc011bji.2_Missense_Mutation_p.G68S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	68					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)		AGTTCGGCATGGTTTTCCTCA	0.378000														45			6		0	0	0.003080	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253266	24253266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:24253266G>A	uc003xdz.2	+	4	617	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E54K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E54K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	133					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E133K(1)		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)		CATCCTAAATGAAAAGAATTC	0.363000														26			7		0	0	0.004482	0	0
HTT	3064	broad.mit.edu	37	4	3221983	3221983	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:3221983C>T	uc021xkv.1	+	52	7462	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2439					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCGTGGAGTTCCTCCAGGAAA	0.512000														71			18		0	0	0.010504	0	0
TRPM2	7226	broad.mit.edu	37	21	45833940	45833940	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:45833940C>T	uc010gpt.1	+	19	3229	c.3129C>T	c.(3127-3129)ctC>ctT	p.L1043L	TRPM2_uc002zet.1_Silent_p.L1043L|TRPM2_uc002zeu.1_Silent_p.L1043L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L1043L|TRPM2_uc002zex.1_Silent_p.L829L|TRPM2_uc002zey.1_Silent_p.L556L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1043						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCTCAACCTCCTCATCGCCA	0.657000														165			14		0	0	0.004007	0	0
ATRNL1	26033	broad.mit.edu	37	10	116930804	116930804	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:116930804T>A	uc001lcg.3	+	7	1488	c.1102T>A	c.(1102-1104)Ttt>Att	p.F368I	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.F368I	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	368						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGAAAACATCTTTATGTATGG	0.244000														27			9		0	0	0.004482	0	0
DHRS2	10202	broad.mit.edu	37	14	24108413	24108413	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24108413C>T	uc001wkt.4	+	2	613	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	DHRS2_uc010aku.1_Silent_p.L56L|DHRS2_uc001wku.4_Silent_p.L56L|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	34					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CGCCCGACGTCTGGCCCGGGA	0.642000														118			9		0	0	0.013537	0	0
OR4M1	441670	broad.mit.edu	37	14	20249186	20249186	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20249186C>T	uc010tku.2	+	0	705	c.705C>T	c.(703-705)acC>acT	p.T235T		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGAGAATACCAACAGGGCCA	0.468000														166			25		0	0	0.003330	0	0
OR51B2	79345	broad.mit.edu	37	11	5345273	5345273	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5345273C>T	uc001mao.1	-	0	310	c.255G>A	c.(253-255)gtG>gtA	p.V85V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W84L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGTGATTCACCCATAGGA	0.502000														34			13		0	0	0.013537	0	0
OR5D18	219438	broad.mit.edu	37	11	55587575	55587575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55587575C>T	uc010rin.2	+	0	470	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTCTCATGTTCCTTGGAACTG	0.468000														76			26		0	0	0.003954	0	0
CASR	846	broad.mit.edu	37	3	121980930	121980930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121980930G>A	uc003eew.4	+	3	1486	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	CASR_uc003eev.4_Missense_Mutation_p.E350K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	350					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	p.K349K(1)|p.E350V(1)		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)	TTTTGCCAAGGAGTTTTGGGA	0.507000														33			6		0	0	0.001984	0	0
LAMB3	3914	broad.mit.edu	37	1	209796444	209796444	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:209796444G>A	uc001hhg.3	-	15	2829	c.2439C>T	c.(2437-2439)gcC>gcT	p.A813A	LAMB3_uc009xco.3_Silent_p.A813A|LAMB3_uc001hhh.3_Silent_p.A813A|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	813	Domain alpha.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGCCACAGGCTGTGCCAT	0.637000														49			12		0	0	0.013537	0	0
ITGA5	3678	broad.mit.edu	37	12	54798523	54798523	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54798523G>A	uc001sga.3	-	12	1449	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	ITGA5_uc010sow.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	461					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGCCTCCTCGAAGGGCAGAG	0.592000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			14		0	0	0.002450	0	0
FERMT1	55612	broad.mit.edu	37	20	6069691	6069691	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:6069691G>A	uc002wmr.3	-	9	1974	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	FERMT1_uc002wmq.3_5'UTR|FERMT1_uc010gbt.3_Silent_p.I138I|FERMT1_uc002wms.3_Silent_p.I395I	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	395	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.F394C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGTCTTTAAAGATAAACCAAT	0.348000														34			6		0	0	0.001984	0	0
HGF	3082	broad.mit.edu	37	7	81339534	81339534	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:81339534C>T	uc003uhl.3	-	12	1635	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	HGF_uc003uhm.3_Silent_p.T485T	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	490					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.T490T(4)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCAATTGTTTCGTTTTGGCAC	0.328000														34			13		0	0	0.001855	0	0
EFCAB5	374786	broad.mit.edu	37	17	28384850	28384850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:28384850C>T	uc002het.3	+	12	2714	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	EFCAB5_uc010wbj.2_Missense_Mutation_p.S785F|EFCAB5_uc010wbk.2_Missense_Mutation_p.S498F|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Intron|EFCAB5_uc010csf.3_Missense_Mutation_p.S720F	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	841							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACTCTCACCTCCTTTTTTAAG	0.413000														69			18		0	0	0.010504	0	0
EVPL	2125	broad.mit.edu	37	17	74003351	74003351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74003351C>T	uc010wss.1	-	21	6229	c.6001G>A	c.(6001-6003)Gag>Aag	p.E2001K	EVPL_uc002jqi.2_Missense_Mutation_p.E1979K|EVPL_uc010wst.1_Missense_Mutation_p.E1449K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1979	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AAATCCTTCTCGTAGCTGGAC	0.642000														91			11		0	0	0.001855	0	0
TEAD4	7004	broad.mit.edu	37	12	3120219	3120219	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:3120219C>T	uc010sej.2	+	3	568	c.276C>T	c.(274-276)acC>acT	p.T92T	TEAD4_uc010sek.2_Silent_p.T92T|TEAD4_uc001qln.3_5'UTR	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	92					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CAGGGAAGACCCGCACCAGGA	0.637000														64			7		0	0	0.001984	0	0
ZMYND15	84225	broad.mit.edu	37	17	4647762	4647762	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:4647762G>A	uc002fyu.2	+	9	1713	c.1683_splice	c.e9+1	p.R561_splice	ZMYND15_uc002fyv.2_Splice_Site_p.R561_splice|ZMYND15_uc002fyt.2_Splice_Site_p.R522_splice	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	522							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCCTGCAGAGGGTGAGGGCTG	0.637000														29			12		0	0	0.010729	0	0
FBN2	2201	broad.mit.edu	37	5	127728828	127728828	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:127728828T>G	uc003kuu.3	-	10	1904	c.1465_splice	c.e10+1	p.T489_splice	FBN2_uc003kuv.2_Splice_Site_p.T456_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	489					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)		GACCACTTACTTAGTCCAGTG	0.478000														55			8		0	0	0.008291	0	0
GPR112	139378	broad.mit.edu	37	X	135427664	135427664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135427664C>T	uc004ezu.1	+	5	2090	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	GPR112_uc010nsb.1_Missense_Mutation_p.S395F|GPR112_uc010nsc.1_Missense_Mutation_p.S367F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	600					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S600F(2)		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)					ACTATGCTTTCCTCCACAATC	0.458000														20			7		0	0	0.003080	0	0
CD163L1	283316	broad.mit.edu	37	12	7531617	7531617	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7531617C>T	uc010sge.2	-	8	2384	c.2358G>A	c.(2356-2358)caG>caA	p.Q786Q	CD163L1_uc001qsy.3_Silent_p.Q776Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	776	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACACGCAGTCTGTTTCCACT	0.368000														77			5		0	0	0.001168	0	0
LRCH1	23143	broad.mit.edu	37	13	47315886	47315886	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:47315886C>G	uc001vbk.3	+	19	2431	c.2195C>G	c.(2194-2196)gCc>gGc	p.A732G	LRCH1_uc001vbj.3_Missense_Mutation_p.A697G|LRCH1_uc001vbl.4_Intron|LRCH1_uc021rjj.1_Non-coding_Transcript	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	697										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCAACTTCTGCCCTCCGCTCC	0.498000														259			19		0	0	0.007413	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185093	127185093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:127185093C>T	uc004eum.3	-	0	1290	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	365						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTCCCATACTCCTTGAAGTCT	0.473000														47			26		0	0	0.007291	0	0
LRRN1	57633	broad.mit.edu	37	3	3887163	3887163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:3887163G>A	uc003bpt.4	+	1	1599	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E280K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	280						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAAAATCCAAGAAGGGGACTT	0.408000														66			12		0	0	0.001855	0	0
RP1	6101	broad.mit.edu	37	8	55538837	55538837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:55538837G>A	uc003xsd.1	+	3	2543	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	799					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)			CGGTCAAAGAGATAAAGTGTT	0.294000														45			9		0	0	0.006214	0	0
ANK1	286	broad.mit.edu	37	8	41545688	41545688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:41545688C>T	uc003xok.3	-	34	4328	c.4244G>A	c.(4243-4245)gGt>gAt	p.G1415D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.G731D|ANK1_uc003xoi.3_Missense_Mutation_p.G1415D|ANK1_uc003xoj.3_Missense_Mutation_p.G1415D|ANK1_uc003xol.3_Missense_Mutation_p.G1415D|ANK1_uc003xom.3_Missense_Mutation_p.G1456D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1415	55 kDa regulatory domain.|Death.				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)			CCAGCTGAGACCGAGGTGCTC	0.512000														111			12		0	0	0.001855	0	0
SERAC1	84947	broad.mit.edu	37	6	158549146	158549146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:158549146G>A	uc003qrc.2	-	9	1151	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SERAC1_uc003qrb.2_Missense_Mutation_p.R65C	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	337					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TTACCTGAGCGAACTATAGAA	0.338000														39			8		0	0	0.004482	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774093	52774093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:52774093C>T	uc002xwv.2	-	9	1666	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	CYP24A1_uc002xwu.1_Missense_Mutation_p.G281E|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	423					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTCACTGGATCCCAACACCTG	0.393000														62			6		0	0	0.001984	0	0
TAAR8	83551	broad.mit.edu	37	6	132874774	132874774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132874774C>T	uc011ecj.2	+	0	943	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	315						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTATTTTATCCTTGGTTTAG	0.333000														83			5		0	0	0.001168	0	0
ADCY5	111	broad.mit.edu	37	3	123044289	123044289	+	Silent	SNP	G	A	A	rs138891983		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:123044289G>A	uc003egh.2	-	7	1968	c.1968C>T	c.(1966-1968)atC>atT	p.I656I	ADCY5_uc021xdd.1_Silent_p.I306I|ADCY5_uc003egg.2_Silent_p.I289I|ADCY5_uc003egi.1_Silent_p.I215I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	656					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.I656I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCATCTTGGCGATCATGGCCT	0.587000														102			12		0	0	0.003163	0	0
HDAC9	9734	broad.mit.edu	37	7	18631231	18631231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:18631231C>T	uc003sui.3	+	3	549	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	HDAC9_uc003sue.3_Missense_Mutation_p.H167Y|HDAC9_uc011jyd.2_Missense_Mutation_p.H167Y|HDAC9_uc003suh.3_Missense_Mutation_p.H167Y|HDAC9_uc003suj.3_Missense_Mutation_p.H170Y|HDAC9_uc011jya.2_Missense_Mutation_p.H209Y|HDAC9_uc003sua.1_Missense_Mutation_p.H189Y|HDAC9_uc003sud.2_Missense_Mutation_p.H167Y|HDAC9_uc011jyc.2_Missense_Mutation_p.H170Y|HDAC9_uc011jyb.2_Missense_Mutation_p.H167Y|HDAC9_uc003suf.2_Missense_Mutation_p.H198Y|HDAC9_uc010kud.2_Missense_Mutation_p.H170Y|HDAC9_uc011jye.2_Missense_Mutation_p.H139Y|HDAC9_uc011jyf.2_Missense_Mutation_p.H136Y|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	167					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAAAAAATCATTCCGTGAG	0.448000														48			7		0	0	0.006214	0	0
TRANK1	9881	broad.mit.edu	37	3	36898710	36898710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36898710C>T	uc003cgj.3	-	11	2619	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	791					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTCGATCTCCCAGGTCATG	0.493000														160			26		0	0	0.009535	0	0
GALNTL2	117248	broad.mit.edu	37	3	16268889	16268889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:16268889G>A	uc003car.4	+	9	2277	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E	GALNTL2_uc003caq.4_Missense_Mutation_p.G334E|GALNTL2_uc003cas.4_Missense_Mutation_p.G131E	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	601	Ricin B-type lectin.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						ATTCTTTCTGGGAAATGCATG	0.403000														70			6		0	0	0.001984	0	0
SCAF4	57466	broad.mit.edu	37	21	33067281	33067281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33067281G>A	uc002ypd.2	-	9	1507	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	SCAF4_uc002ype.2_Missense_Mutation_p.P361S|SCAF4_uc010glu.2_Missense_Mutation_p.P346S|SCAF4_uc002ypf.1_Missense_Mutation_p.P35S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	361						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTCCATTAGGAGGAAGTGGA	0.383000														38			4		0	0	0.009096	0	0
CIITA	4261	broad.mit.edu	37	16	10996552	10996552	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10996552C>T	uc002daj.4	+	7	802	c.669C>T	c.(667-669)ctC>ctT	p.L223L	CIITA_uc002dai.4_Silent_p.L222L|CIITA_uc002dak.4_Silent_p.L173L|CIITA_uc002dag.2_Silent_p.L222L|CIITA_uc002dah.2_Silent_p.L174L|CIITA_uc010bup.1_Silent_p.L222L	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	222					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCCTGAATCTCCCTGAGGGAC	0.532000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									52			5		0	0	0.001168	0	0
OSMR	9180	broad.mit.edu	37	5	38884075	38884075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38884075G>A	uc003jln.2	+	4	967	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	OSMR_uc003jlm.2_Missense_Mutation_p.E189K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	189					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATTCATGGAGAACAACTTGA	0.368000														67			6		0	0	0.001984	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Silent	SNP	G	A	A	rs149915358	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:121739511G>A	uc003ksw.1	+	2	287	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	27					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)		CACTCAAGACGATCCCAGAAC	0.453000														68			26		0	0	0.006320	0	0
MAP6	4135	broad.mit.edu	37	11	75319271	75319271	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:75319271G>A	uc001owu.3	-	1	1067	c.1002C>T	c.(1000-1002)acC>acT	p.T334T	MAP6_uc001owv.3_Silent_p.T334T	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	334						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CACTGTAGCTGGTCTCATGAA	0.498000														45			7		0	0	0.003080	0	0
GALP	85569	broad.mit.edu	37	19	56694533	56694533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56694533C>T	uc002qmo.1	+	4	329	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	83					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCCTCCACAGCCCTCCAAGAG	0.502000														30			9		0	0	0.010729	0	0
C1orf87	127795	broad.mit.edu	37	1	60538282	60538282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:60538282C>T	uc001czs.2	-	1	142	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	12							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCATTGCATCTGATCCACGG	0.393000														77			7		0	0	0.004482	0	0
MECOM	2122	broad.mit.edu	37	3	168833626	168833626	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:168833626C>T	uc011bpj.1	-	7	2437	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	MECOM_uc010hwk.1_Silent_p.L513L|MECOM_uc003ffj.3_Silent_p.L555L|MECOM_uc003ffi.3_Silent_p.L490L|MECOM_uc011bpi.1_Silent_p.L491L|MECOM_uc003ffn.3_Silent_p.L490L|MECOM_uc003ffk.2_Silent_p.L490L|MECOM_uc003ffl.2_Silent_p.L650L|MECOM_uc011bpk.1_Silent_p.L490L|MECOM_uc010hwn.2_Silent_p.L678L	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						GCAGCCCCACCAGTCCTGTTG	0.438000														81			9		0	0	0.004482	0	0
PDE3A	5139	broad.mit.edu	37	12	20803529	20803529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:20803529G>A	uc001reh.2	+	13	2960	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	PDE3A_uc021qwa.1_Missense_Mutation_p.E652K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	974	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGAATTTTATGAACAGGTAAC	0.363000														39			5		0	0	0.001168	0	0
FCRLB	127943	broad.mit.edu	37	1	161697269	161697270	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:161697269_161697270CC>TT	uc001gbh.3	+	7	1332_1333	c.1098_1099CC>TT	c.(1096-1101)gccctg>gcTTtg	p.366_367AL>AL	FCRLB_uc009wus.3_Silent_p.366_367AL>AL|FCRLB_uc001gbi.3_Silent_p.366_367AL>AL|FCRLB_uc001gbj.3_Missense_Mutation_p.P318L|FCRLB_uc001gbk.3_3'UTR|FCRLB_uc001gbl.3_Missense_Mutation_p.P311L|FCRLB_uc001gbm.3_3'UTR|FCRLB_uc001gbn.4_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	366						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGGCTGGAGCCCTGAAACCCGA	0.673000														59			6		0	0	0.004672	0	0
ITIH2	3698	broad.mit.edu	37	10	7763737	7763737	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7763737G>A	uc001ijs.3	+	7	1026	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	288					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGGTGAACTGGAGGTGAGTG	0.537000														72			12		0	0	0.001855	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899949	151899949	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151899949C>T	uc022chj.1	-	0	852	c.852G>A	c.(850-852)gtG>gtA	p.V284V	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.V284V|MAGEA12_uc022chi.1_Silent_p.V284V|MAGEA12_uc004fgc.3_Silent_p.V284V	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	284	MAGE.							p.Y283Y(1)		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)					GCAGGACTTTCACATAGCTGG	0.542000														87			15		0	0	0.004007	0	0
PARK2	5071	broad.mit.edu	37	6	162622220	162622220	+	Silent	SNP	C	T	T	rs146547001		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:162622220C>T	uc021zhu.1	-	4	709	c.618G>A	c.(616-618)ccG>ccA	p.P206P	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Silent_p.P159P|PARK2_uc021zhs.1_Silent_p.P159P|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.P159P|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Silent_p.P80P|PARK2_uc021zhw.1_Intron|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Silent_p.P159P|PARK2_uc010kke.1_Silent_p.P159P	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	159	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGAGTTTTCCCGGCTGCACTC	0.483000														55			7		0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216073511	216073511	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:216073511G>A	uc001hku.1	-	39	7887	c.7500C>T	c.(7498-7500)ctC>ctT	p.L2500L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2500	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTACGGTTGGAGATCACTCA	0.398000										HNSCC(13;0.011)				29			13		0	0	0.013537	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255223	15255223	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:15255223G>A	uc001iob.3	-	7	2371	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	788						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCAGGTACACGAGCTGCGTGT	0.607000														24			8		0	0	0.004482	0	0
BDH2	56898	broad.mit.edu	37	4	104012420	104012420	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104012420G>A	uc003hwz.3	-	4	376	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L		NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2 (BDH2), mRNA.	91					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TCACAATCCAGGACAGTTCCA	0.393000														27			11		0	0	0.008291	0	0
OR5L1	219437	broad.mit.edu	37	11	55579077	55579077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55579077G>A	uc001nhw.1	+	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M45I(4)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGGGCATGATTGCACTGA	0.488000														169			12		0	0	0.010729	0	0
PSG4	5672	broad.mit.edu	37	19	43702411	43702411	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43702411G>A	uc002ovy.3	-	2	549	c.447C>T	c.(445-447)ccC>ccT	p.P149P	PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Silent_p.P149P|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	149	Ig-like C2-type 1.				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)				TGGAGATGGAGGGCTTGGGAG	0.512000														46			13		0	0	0.002450	0	0
AADACL2	344752	broad.mit.edu	37	3	151475347	151475347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:151475347G>A	uc003ezc.3	+	4	1291	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.D178N	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	391						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGGATAAGAGATATGTATGT	0.333000														60			6		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166152	140166152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140166152G>A	uc003lhb.2	+	0	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E93K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E93K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	108	Cadherin 1.				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)			GATCGATCGCGAGGAGCTGTG	0.562000														53			7		0	0	0.004482	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350300	51350300	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:51350300C>T	uc001zyy.3	-	2	757	c.657G>A	c.(655-657)agG>agA	p.R219R		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	219										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGAGCACGTTCCTATCGAAGG	0.557000														30			9		0	0	0.004482	0	0
FAM40B	57464	broad.mit.edu	37	7	129079867	129079867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:129079867C>T	uc011koy.2	+	1	174	c.134C>T	c.(133-135)tCt>tTt	p.S45F	FAM40B_uc003vow.3_Missense_Mutation_p.S45F	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	45										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTACAGGGCTCTGTGGACTGT	0.473000														69			7		0	0	0.004482	0	0
ABCA6	23460	broad.mit.edu	37	17	67084376	67084376	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:67084376G>A	uc002jhw.1	-	27	3805	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1210					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)					GAACAAAAACGAATAGCAAAG	0.299000														18			5		0	0	0.001984	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241435	60241435	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:60241435C>T	uc002lip.4	+	12	2121	c.2121C>T	c.(2119-2121)ccC>ccT	p.P707P	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.P177P	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	707					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TAGAAGATCCCTTAAACTCAC	0.438000														94			19		0	0	0.014323	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:117311214C>T	uc001egu.4	+	4	894	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	289	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000														33			6		0	0	0.001984	0	0
KALRN	8997	broad.mit.edu	37	3	124390733	124390733	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:124390733C>T	uc003ehg.3	+	47	7054	c.6927C>T	c.(6925-6927)ttC>ttT	p.F2309F	KALRN_uc003ehi.3_Silent_p.F650F|KALRN_uc003ehk.3_Silent_p.F612F|KALRN_uc011bjz.2_Silent_p.F401F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2308					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	p.F612F(1)|p.F2309F(1)		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						GGGACAAGTTCGAAGCCAGCA	0.527000														89			8		0	0	0.006214	0	0
MAEL	84944	broad.mit.edu	37	1	166991040	166991040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:166991040C>T	uc001gdy.1	+	11	1324	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	MAEL_uc021peh.1_Missense_Mutation_p.S362L|MAEL_uc001gdz.1_Missense_Mutation_p.S387L|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	418					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTTCACTCTCACCTTACATG	0.408000														49			14		0	0	0.004007	0	0
PAPPA	5069	broad.mit.edu	37	9	119093563	119093563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:119093563C>T	uc004bjn.3	+	10	3569	c.3188C>T	c.(3187-3189)tCc>tTc	p.S1063F	PAPPA_uc011lxp.1_Missense_Mutation_p.S758F|PAPPA_uc011lxq.2_Missense_Mutation_p.S438F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1063					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GAAGGCATTTCCCAGCATGCC	0.443000														61			14		0	0	0.003163	0	0
IFITM2	10581	broad.mit.edu	37	11	308107	308107	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:308107G>A	uc001lox.4	+	1	1	c.-85_splice	c.e1-1			NM_006435	NP_006426	Q01629	IFM2_HUMAN	Homo sapiens interferon induced transmembrane protein 2 (1-8D) (IFITM2), mRNA.						response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCAGGAAGAGGAAACTGT	0.512000														76			9		0	0	0.006214	0	0
TNR	7143	broad.mit.edu	37	1	175362956	175362956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175362956G>A	uc001gkp.1	-	3	1397	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	TNR_uc009wwu.1_Missense_Mutation_p.S439L|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	439	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S439*(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAAGGAAAATGAGAAGGGCTC	0.458000														149			8		0	0	0.004482	0	0
C3orf62	375341	broad.mit.edu	37	3	49308822	49308822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49308822C>T	uc003cwn.2	-	2	798	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	C3orf62_uc003cwm.2_Missense_Mutation_p.E48K|MIR4271_uc021wxu.1_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	Homo sapiens chromosome 3 open reading frame 62 (C3orf62), mRNA.	199										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTTCAATTCGTTTTCAAAT	0.428000														51			8		0	0	0.003080	0	0
KERA	11081	broad.mit.edu	37	12	91449442	91449442	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91449442T>A	uc001tbl.3	-	1	1236	c.617A>T	c.(616-618)aAt>aTt	p.N206I		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	206					response to stimulus|visual perception	proteinaceous extracellular matrix		p.N206D(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGAGGCATATTCCTCAGGGC	0.368000														85			10		0	0	0.008291	0	0
HAS2	3037	broad.mit.edu	37	8	122626661	122626662	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:122626661_122626662GG>AA	uc003yph.2	-	3	1884_1885	c.1346_1347CC>TT	c.(1345-1347)ccc>cTT	p.P449L		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	449						integral to plasma membrane	hyaluronan synthase activity	p.P449P(4)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATCTTGGCGGGAAGTAAACT	0.411000														74			45		0	0	0.004672	0	0
PTGFR	5737	broad.mit.edu	37	1	79002142	79002142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:79002142G>A	uc001din.3	+	2	1116	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	284					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGAAACCTGTGAAACAACACT	0.373000														53			11		0	0	0.010729	0	0
ASPM	259266	broad.mit.edu	37	1	197071057	197071057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197071057G>A	uc001gtu.3	-	17	7581	c.7324C>T	c.(7324-7326)Cga>Tga	p.R2442*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Nonsense_Mutation_p.R290*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2442					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGGTGGCTCGATATTTCCTC	0.373000														80			5		0	0	0.000602	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343263	69343263	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69343263G>C	uc003hdz.4	+	7	948	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	295	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GCAGTACATAGAGTTTGTCTC	0.413000														202			17		0	0	0.004007	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354085	45354085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:45354085C>T	uc002xsl.3	+	1	507	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	137						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GTGCTGGTGTCCCTCTATGAG	0.627000														88			10		0	0	0.006214	0	0
CCR6	1235	broad.mit.edu	37	6	167550192	167550192	+	Silent	SNP	C	T	T	rs111874598		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:167550192C>T	uc003qvl.3	+	12	2950	c.474C>T	c.(472-474)tcC>tcT	p.S158S	CCR6_uc010kkm.3_Silent_p.S158S|CCR6_uc003qvn.4_Silent_p.S158S|CCR6_uc003qvm.4_Silent_p.S158S	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	158					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GGCTCCGATCCAGAACACTAC	0.498000														52			6		0	0	0.001984	0	0
LRRN2	10446	broad.mit.edu	37	1	204588781	204588781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:204588781G>A	uc021phy.1	-	0	340	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.H114Y|LRRN2_uc001hbf.1_Missense_Mutation_p.H114Y|LRRN2_uc009xbf.1_Missense_Mutation_p.H114Y|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	114					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCAGGGCATGGAAATCACAG	0.597000														92			19		0	0	0.006122	0	0
PSG3	5671	broad.mit.edu	37	19	43382178	43382178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43382178G>A	uc002ovd.1	-	1	455	c.317C>T	c.(316-318)tCc>tTc	p.S106F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S106F|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.S106F|PSG3_uc002ova.2_Missense_Mutation_p.S106F|PSG3_uc002ouz.2_Missense_Mutation_p.S106F|PSG3_uc002ovb.3_Missense_Mutation_p.S106F	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	106	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCAGCAGGGATGCATTGGA	0.453000														273			28		0	0	0.009535	0	0
SPATA17	128153	broad.mit.edu	37	1	217947835	217947835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:217947835C>T	uc001hlh.1	+	6	705	c.679C>T	c.(679-681)Cct>Tct	p.P227S	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	227						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CCGTTCTTTTCCTCGGTCTGA	0.398000														41			7		0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431368	110431368	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110431368G>A	uc003yne.3	+	21	2507	c.2403G>A	c.(2401-2403)acG>acA	p.T801T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	801					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTAAGAACGAAATACACTG	0.373000										HNSCC(38;0.096)				45			9		0	0	0.010729	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508729	161508729	+	Missense_Mutation	SNP	C	T	T	rs143918593		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:161508729C>T	uc003qtn.3	+	9	2708	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	MAP3K4_uc010kkc.1_Missense_Mutation_p.P856S|MAP3K4_uc003qto.3_Missense_Mutation_p.P856S|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.P309S	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	856					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGCAAATTCCTGGGTTAGA	0.383000														45			9		0	0	0.004482	0	0
CST4	1472	broad.mit.edu	37	20	23669436	23669436	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:23669436C>T	uc002wto.1	-	0	227	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	57						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CTTCGGTGGCCTTGTTGTACT	0.592000														44			10		0	0	0.008291	0	0
MMP12	4321	broad.mit.edu	37	11	102734972	102734972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:102734972C>T	uc001phk.3	-	9	1311	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	406	Hemopexin-like 3.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CATCTGTCTCCTTTCATCATA	0.438000														18			5		0	0	0.000602	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518436	156518436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156518436G>A	uc001fpf.3	-	16	2005	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	644					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCACAGTCGGGAACTACCCCT	0.607000														68			6		0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152832177	152832177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152832177C>T	uc021zhb.1	-	4	594	c.371G>A	c.(370-372)gGa>gAa	p.G124E	SYNE1_uc003qot.4_Missense_Mutation_p.G131E|SYNE1_uc003qou.4_Missense_Mutation_p.G124E|SYNE1_uc010kjb.1_Missense_Mutation_p.G124E|SYNE1_uc003qpa.1_Missense_Mutation_p.G124E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	124	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACATCAATCCAAGAACTAT	0.373000										HNSCC(10;0.0054)				157			17		0	0	0.010504	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915567	39915567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39915567C>T	uc010xuz.2	+	18	4119	c.3794C>T	c.(3793-3795)tCc>tTc	p.S1265F	PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S1043F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1265					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCCACCTTCCAGCCGTCAG	0.612000														62			16		0	0	0.004007	0	0
HCFC1	3054	broad.mit.edu	37	X	153222120	153222120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:153222120G>A	uc004fjp.3	-	14	3119	c.2591C>T	c.(2590-2592)gCc>gTc	p.A864V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	864	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTTGACGGCGGAGACGGT	0.632000														19			12		0	0	0.013537	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396791	42396791	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:42396791T>C	uc002orx.3	+	6	594	c.485T>C	c.(484-486)cTc>cCc	p.L162P	ARHGEF1_uc002orw.1_Missense_Mutation_p.L162P|ARHGEF1_uc002ory.3_Missense_Mutation_p.L129P|ARHGEF1_uc002orz.3_5'UTR|ARHGEF1_uc002osa.3_Missense_Mutation_p.L177P|ARHGEF1_uc002osb.3_Missense_Mutation_p.L144P|ARHGEF1_uc002osc.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	162	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding	p.Q161*(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCAAGCGGCTCATGGGCATG	0.692000														24			7		0	0	0.003080	0	0
ZFX	7543	broad.mit.edu	37	X	24228975	24228975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:24228975C>T	uc011mjv.2	+	9	2266	c.2017C>T	c.(2017-2019)Cag>Tag	p.Q673*	ZFX_uc004dbd.2_Nonsense_Mutation_p.Q634*|ZFX_uc004dbf.3_Nonsense_Mutation_p.Q634*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.Q634*|ZFX_uc010nfx.2_Nonsense_Mutation_p.Q405*|ZFX_uc010nfz.3_Nonsense_Mutation_p.Q290*	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAAAACACACCAGTGTTTGCA	0.423000														25			16		0	0	0.006122	0	0
BZW2	28969	broad.mit.edu	37	7	16729434	16729434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:16729434C>T	uc003stj.2	+	6	716	c.554C>T	c.(553-555)tCa>tTa	p.S185L	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stl.2_Missense_Mutation_p.S185L|BZW2_uc003stm.2_5'UTR|BZW2_uc003sto.1_Missense_Mutation_p.S33L	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	185					RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		ATTGCGGCCTCATTTGCTGTC	0.418000														27			4		0	0	0.009096	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554647	140554647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140554647C>T	uc003lit.3	+	0	2405	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	744					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S744S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACCCTATCCCAGAGCTAC	0.607000														129			10		0	0	0.010729	0	0
TAF1L	138474	broad.mit.edu	37	9	32634114	32634114	+	Silent	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:32634114G>T	uc003zrg.1	-	0	1554	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	488					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)		CATTGTCAATGGGAAAAATGG	0.473000														85			11		0.000673444	0.000696377	0.008291	1	0
C12orf51	283450	broad.mit.edu	37	12	112686220	112686220	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:112686220G>A	uc021reb.1	-	25	4041	c.3645C>T	c.(3643-3645)ttC>ttT	p.F1215F		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTTGATATTGGAAATTTATTA	0.378000														16			7		0	0	0.001984	0	0
MAP3K14	9020	broad.mit.edu	37	17	43348577	43348577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:43348577G>A	uc002iiw.1	-	10	1775	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	MAP3K14_uc002iiu.1_Missense_Mutation_p.P87S|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Missense_Mutation_p.P141S	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	557	Interaction with ZFP91.|Protein kinase.				I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGTGCCAGGGATGTAGTCC	0.582000														39			6		0	0	0.001984	0	0
KIF26B	55083	broad.mit.edu	37	1	245766051	245766051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:245766051C>T	uc001ibf.1	+	5	1963	c.1523C>T	c.(1522-1524)gCc>gTc	p.A508V	KIF26B_uc010pyq.1_Missense_Mutation_p.A508V|KIF26B_uc001ibg.1_Missense_Mutation_p.A126V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	508	Kinesin-motor.				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)			AAGATGTTTGCCTTCGATGCA	0.502000														75			18		0	0	0.012319	0	0
LRRC33	375387	broad.mit.edu	37	3	196387757	196387757	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196387757C>T	uc003fwv.3	+	2	1347	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	415						integral to membrane		p.L414L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAACCAGCTCCTGGGCGTCCC	0.622000														88			17		0	0	0.006122	0	0
GALNT6	11226	broad.mit.edu	37	12	51748276	51748276	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:51748276C>T	uc001ryk.2	-	11	1981	c.1756_splice	c.e11-1	p.D586_splice	GALNT6_uc009zma.1_Splice_Site|GALNT6_uc001ryl.1_Splice_Site_p.D586_splice|GALNT6_uc001ryj.1_Splice_Site_p.D151_splice	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	586	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGCTGATCCTAAAAGATG	0.527000														33			4		0	0	0.000602	0	0
DNAH2	146754	broad.mit.edu	37	17	7733619	7733619	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7733619G>A	uc002giu.1	+	77	11868	c.11854_splice	c.e77-1	p.G3952_splice	DNAH2_uc010cnm.1_Splice_Site_p.G890_splice	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3952	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTCCCCAGGGCCTAAAGGCC	0.468000														35			5		0	0	0.000602	0	0
DMD	1756	broad.mit.edu	37	X	32519904	32519904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:32519904G>A	uc004dda.1	-	18	2592	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	DMD_uc004dcz.2_Missense_Mutation_p.S660L|DMD_uc004dcy.1_Missense_Mutation_p.S779L|DMD_uc004ddb.1_Missense_Mutation_p.S775L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	783					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)				GGCCTGAGCTGATCTGCTGGC	0.408000														8			9		0	0	0.004482	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784883	30784883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30784883G>A	uc002wxn.2	-	2	1080	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCCAGGGAAGGCCTTGGTCCC	0.607000														84			8		0	0	0.003080	0	0
FCRL6	343413	broad.mit.edu	37	1	159778040	159778040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159778040G>A	uc001fud.4	+	2	167	c.125G>A	c.(124-126)tGg>tAg	p.W42*	FCRL6_uc010pix.1_Nonsense_Mutation_p.W37*|FCRL6_uc001fuc.2_Nonsense_Mutation_p.W49*|FCRL6_uc009wsz.1_Nonsense_Mutation_p.W42*|FCRL6_uc009wta.3_Nonsense_Mutation_p.W42*	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	42	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGTCAGGGATGGAAGAATACA	0.512000														31			12		0	0	0.010729	0	0
STAT4	6775	broad.mit.edu	37	2	192012813	192012813	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:192012813T>A	uc002usm.2	-	1	432	c.117A>T	c.(115-117)gaA>gaT	p.E39D	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.E39D|STAT4_uc002uso.2_Missense_Mutation_p.E39D|STAT4_uc002usp.4_Missense_Mutation_p.E39D|STAT4_uc010zgl.2_Missense_Mutation_p.E39D	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	39					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGTCTTGATTTTCAATCCATT	0.373000														39			8		0	0	0.004482	0	0
CFH	3075	broad.mit.edu	37	1	196695721	196695721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196695721G>A	uc001gtj.4	+	12	2235	c.1995G>A	c.(1993-1995)atG>atA	p.M665I	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.	665	Sushi 11.				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						GATTTCTAATGAAGGGACCTA	0.333000														40			8		0	0	0.006214	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917219	54917219	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54917219G>A	uc001sgc.4	+	18	1999	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	NCKAP1L_uc010sox.2_Silent_p.K182K|NCKAP1L_uc010soy.2_Silent_p.K590K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	640					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCAAAGCCAAGAACAAGAAAA	0.498000														118			20		0	0	0.002780	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764811	54764812	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54764811_54764812CC>TT	uc001sfy.3	-	5	788_789	c.733_734GG>AA	c.(733-735)ggg>AAg	p.G245K	ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Missense_Mutation_p.G225K|ZNF385A_uc010sov.1_Missense_Mutation_p.G144K|ZNF385A_uc001sfx.1_Missense_Mutation_p.G225K|ZNF385A_uc001sfz.3_Missense_Mutation_p.G164K	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GGTGGGAGGCCCCAGCCGAGGG	0.599000														95			7		0	0	0.004672	0	0
SYBU	55638	broad.mit.edu	37	8	110587270	110587270	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110587270G>A	uc010mcp.3	-	7	2219	c.1857C>T	c.(1855-1857)gtC>gtT	p.V619V	SYBU_uc003yni.4_Silent_p.V616V|SYBU_uc003ynk.4_Silent_p.V500V|SYBU_uc003ynj.4_Silent_p.V619V|SYBU_uc010mco.3_Silent_p.V618V|SYBU_uc003ynl.4_Silent_p.V618V|SYBU_uc010mcq.3_Silent_p.V619V|SYBU_uc003yno.4_Silent_p.V500V|SYBU_uc010mcr.3_Silent_p.V619V|SYBU_uc003ynm.4_Silent_p.V618V|SYBU_uc003ynn.4_Silent_p.V618V|SYBU_uc010mcs.3_Silent_p.V500V|SYBU_uc010mct.3_Silent_p.V619V|SYBU_uc010mcu.3_Silent_p.V618V|SYBU_uc003ynp.4_Silent_p.V551V|SYBU_uc010mcv.3_Silent_p.V619V|SYBU_uc003ynh.4_Silent_p.V413V|SYBU_uc011lhw.2_Silent_p.V489V	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	619						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane		p.T618M(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAACCGTGGGGACCACGGGGG	0.622000														57			13		0	0	0.004007	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345137	135345137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:135345137C>T	uc001lnj.1	+	2	419	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	129					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGCGGTTTTCCCTGACCACC	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					77			7		0	0	0.003080	0	0
IL5RA	3568	broad.mit.edu	37	3	3139668	3139668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:3139668G>A	uc011ask.2	-	7	1239	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	IL5RA_uc010hbq.3_Missense_Mutation_p.P199S|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.P199S|IL5RA_uc011asl.2_Missense_Mutation_p.P199S|IL5RA_uc011asm.1_Missense_Mutation_p.P199S|IL5RA_uc010hbt.2_Missense_Mutation_p.P199S|IL5RA_uc011asn.1_Missense_Mutation_p.P199S|IL5RA_uc010hbu.2_Missense_Mutation_p.P199S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	199					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAAGTCCTGGGAAACCAGCAT	0.478000														43			4		0	0	0.009096	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36748878	36748878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:36748878G>A	uc010tei.2	-	11	1316	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.S257F	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	334					regulation of transcription, DNA-dependent	nucleus											AACGGCTGGAGAGATTTTCTC	0.373000														41			5		0	0	0.000602	0	0
FRYL	285527	broad.mit.edu	37	4	48555248	48555248	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:48555248G>A	uc003gyh.1	-	35	5024	c.4419C>T	c.(4417-4419)atC>atT	p.I1473I	FRYL_uc003gyk.3_Silent_p.I1473I|FRYL_uc003gyg.1_Silent_p.I169I|FRYL_uc003gyi.1_Silent_p.I362I	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGACAGAAGGGATTTTATAGC	0.448000														50			5		0	0	0.001168	0	0
MED9	55090	broad.mit.edu	37	17	17394689	17394690	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:17394689_17394690CC>TT	uc002grh.1	+	1	377_378	c.321_322CC>TT	c.(319-324)atccac>atTTac	p.H108Y		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	108					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGCCCGGCATCCACCTGAGCCC	0.579000														46			6		0	0	0.004672	0	0
STAB2	55576	broad.mit.edu	37	12	104122639	104122639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:104122639G>A	uc001tjw.3	+	47	5134	c.4948G>A	c.(4948-4950)Gac>Aac	p.D1650N	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1650	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAAAGACTGGGACAAATACGG	0.488000														80			5		0	0	0.001168	0	0
NOP2	4839	broad.mit.edu	37	12	6675733	6675733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:6675733G>A	uc021qtw.1	-	3	380	c.200C>T	c.(199-201)tCt>tTt	p.S67F	NOP2_uc021qtx.1_Missense_Mutation_p.S67F|NOP2_uc021qty.1_Missense_Mutation_p.S67F|NOP2_uc021qtz.1_Missense_Mutation_p.S67F|NOP2_uc021qua.1_Missense_Mutation_p.S67F	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	67					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGCCTCAGGAGACTTATTTGT	0.488000														65			9		0	0	0.008291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778252	140778252	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140778252G>A	uc003lkf.2	+	0	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q	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_Silent_p.Q186Q	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	186	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)			AGGAGAAACAGGATGGTAGTA	0.423000														53			7		0	0	0.004482	0	0
CFTR	1080	broad.mit.edu	37	7	117199612	117199612	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:117199612G>A	uc003vjd.3	+	10	1619	c.1487G>A	c.(1486-1488)tGg>tAg	p.W496*	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	496	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAGTTTTCCTGGATTATGCCT	0.388000									Cystic Fibrosis					76			7		0	0	0.003080	0	0
ANXA10	11199	broad.mit.edu	37	4	169105801	169105801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:169105801G>A	uc003irm.3	+	10	1039	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	ANXA10_uc003irn.3_Missense_Mutation_p.R164Q	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	292							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TACAAAGAGCGATATGGAAAA	0.353000														66			22		0	0	0.002780	0	0
PI4K2B	55300	broad.mit.edu	37	4	25256861	25256861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:25256861C>T	uc003grk.2	+	2	731	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	PI4K2B_uc011bxs.2_Missense_Mutation_p.H104Y	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	200	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAACAAGCTTCATCTGAGCAT	0.423000														46			26		0	0	0.008361	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040071	96040071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:96040071C>T	uc002sup.3	+	2	324	c.209C>T	c.(208-210)tCc>tTc	p.S70F	KCNIP3_uc002suq.3_Missense_Mutation_p.S44F	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	70	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.S70C(2)|p.L69P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CTGGAGCTGTCCACGGTGCGC	0.597000														37			4		0	0	0.009096	0	0
PLAG1	5324	broad.mit.edu	37	8	57078987	57078988	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:57078987_57078988GG>AA	uc003xsq.4	-	2	1768_1769	c.1317_1318CC>TT	c.(1315-1320)agcctt>agTTtt	p.L440F	PLAG1_uc003xsr.4_Missense_Mutation_p.L440F|PLAG1_uc010lyi.3_Missense_Mutation_p.L440F|PLAG1_uc010lyj.3_Missense_Mutation_p.L358F|PLAG1_uc022aur.1_Missense_Mutation_p.L358F	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	440	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					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)			CTCATTCCAAGGCTCCCCACTG	0.460000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									68			7		0	0	0.004672	0	0
AURKC	6795	broad.mit.edu	37	19	57743922	57743922	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57743922C>T	uc002qoe.3	+	3	498	c.309C>T	c.(307-309)atC>atT	p.I103I	AURKC_uc002qoc.3_Silent_p.I84I|AURKC_uc002qod.3_Silent_p.I69I|AURKC_uc010etv.3_Silent_p.I100I	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	103	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.E102D(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACCCCAATATCCTGCGCCTGT	0.493000														62			7		0	0	0.001984	0	0
ANKRD40	91369	broad.mit.edu	37	17	48773374	48773374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48773374G>A	uc002iso.3	-	4	1346	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	Y_RNA_uc021uaa.1_5'Flank	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	364										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AGTCAGTTTTGAAGCTCTCCT	0.428000														54			13		0	0	0.002450	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857343	9857343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9857343C>T	uc010uym.2	-	13	4368	c.4058G>A	c.(4057-4059)aGg>aAg	p.R1353K	GRIN2A_uc002czo.4_Missense_Mutation_p.R1353K|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1353					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|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGACTTGCTCCTCTTGCTGTC	0.542000														35			11		0	0	0.008291	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963455	73963455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:73963455G>A	uc004eby.3	-	2	1554	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	313					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCATATCGAATTTTCAGG	0.418000														20			14		0	0	0.006122	0	0
C9orf9	11092	broad.mit.edu	37	9	135759337	135759337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:135759337G>A	uc004cbz.1	+	1	152	c.3G>A	c.(1-3)atG>atA	p.M1I	C9orf9_uc004cbx.1_Missense_Mutation_p.M1I|C9orf9_uc004cby.1_Missense_Mutation_p.M1I	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	1								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GGAAGACAATGAATGAGGTGA	0.542000														49			6		0	0	0.001984	0	0
TRIM36	55521	broad.mit.edu	37	5	114482954	114482954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:114482954G>A	uc003kqs.3	-	2	945	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	TRIM36_uc011cwc.2_Missense_Mutation_p.R134C|TRIM36_uc003kqt.3_5'UTR	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	146						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCTGCTTGACGATATCTTTCC	0.458000														81			22		0	0	0.014323	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325960	15325960	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:15325960T>C	uc001iob.3	-	1	249	c.242A>G	c.(241-243)aAg>aGg	p.K81R		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	81						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACTGCCCAGCTTATACTGGAA	0.562000														40			4		0	0	0.009096	0	0
MYH10	4628	broad.mit.edu	37	17	8473084	8473084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8473084G>A	uc002glm.3	-	6	806	c.710C>T	c.(709-711)tCa>tTa	p.S237L	MYH10_uc002gll.3_Missense_Mutation_p.S227L|MYH10_uc010cnx.3_Missense_Mutation_p.S236L|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	227	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATTTCCAAATGATTCCAGAAT	0.348000														24			5		0	0	0.000602	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163055	72163055	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:72163055C>T	uc002fcc.4	-	12	2047	c.1875G>A	c.(1873-1875)cgG>cgA	p.R625R	PMFBP1_uc002fcd.3_Silent_p.R620R|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Silent_p.R475R|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	625										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCAACTGCTCCCGTTTGTCCT	0.463000														241			28		0	0	0.005443	0	0
ANK3	288	broad.mit.edu	37	10	62039396	62039396	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:62039396G>A	uc001jky.3	-	2	453	c.115_splice	c.e2-1	p.S39_splice	ANK3_uc010qih.2_Splice_Site_p.S22_splice|ANK3_uc001jkz.4_Splice_Site_p.S33_splice|ANK3_uc001jlb.1_Splice_Site	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	39					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						ATTGGCATCAGACTAAAATAA	0.343000														65			7		0	0	0.001984	0	0
KCTD7	154881	broad.mit.edu	37	7	66104169	66104169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:66104169C>T	uc003tve.3	+	3	1004	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Missense_Mutation_p.H274Y	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCTCGTGAACCACTACTACTG	0.582000														59			7		0	0	0.003080	0	0
GPC5	2262	broad.mit.edu	37	13	92345508	92345508	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:92345508G>A	uc010tif.2	+	2	759	c.393G>A	c.(391-393)agG>agA	p.R131R		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	131						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Y130C(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTACCTACAGGAACATGGCCT	0.418000														55			6		0	0	0.001168	0	0
DHX8	1659	broad.mit.edu	37	17	41584468	41584468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:41584468C>T	uc002idu.1	+	12	1898	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	DHX8_uc010wif.1_Missense_Mutation_p.S518F|DHX8_uc010wig.2_Missense_Mutation_p.S609F	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	609	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTACACTTCCAGGGGCAAG	0.532000														69			16		0	0	0.008871	0	0
FAM50B	26240	broad.mit.edu	37	6	3850990	3850990	+	Silent	SNP	C	T	T	rs149589937		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:3850990C>T	uc003mvu.3	+	1	1057	c.945C>T	c.(943-945)ccC>ccT	p.P315P	FAM50B_uc021ykt.1_Silent_p.P315P	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	315						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCTATGACCCCGAGAAGAAGT	0.622000														38			12		0	0	0.002450	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581231	24581231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24581231C>T	uc011djo.2	-	6	1702	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	KIAA0319_uc011djp.2_Missense_Mutation_p.G356E|KIAA0319_uc003neh.1_Missense_Mutation_p.G401E|KIAA0319_uc011djq.1_Missense_Mutation_p.G392E|KIAA0319_uc011djr.1_Missense_Mutation_p.G401E|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	401	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.G401R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GACATAAAGTCCGACGGACAA	0.428000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			23		0	0	0.003954	0	0
CLCN1	1180	broad.mit.edu	37	7	143018564	143018564	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143018564C>T	uc003wcr.1	+	3	627	c.540C>T	c.(538-540)caC>caT	p.H180H	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.H28H	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	180					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTTCTGCCACCTCATCTCTC	0.622000														67			16		0	0	0.007413	0	0
SOCS7	30837	broad.mit.edu	37	17	36520712	36520712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:36520712C>T	uc002hqa.3	+	2	1052	c.931C>T	c.(931-933)Cct>Tct	p.P311S	SOCS7_uc010cvl.3_Missense_Mutation_p.P311S|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	311	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TCCCCCTCCTCCTCCGAGAAG	0.567000														60			10		0	0	0.010729	0	0
RPS27	6232	broad.mit.edu	37	1	153964547	153964547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153964547C>T	uc001fdv.3	+	3	267	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.	78					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	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)			CCAGGATGTTCCTTCAGGAGG	0.418000														95			8		0	0	0.004482	0	0
MYO5C	55930	broad.mit.edu	37	15	52487585	52487585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52487585G>A	uc010bff.3	-	39	5227	c.5065C>T	c.(5065-5067)Cgc>Tgc	p.R1689C	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1689	Dilute.					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)		TGTACTTTGCGAACAAAGGAT	0.348000														34			11		0	0	0.001855	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451124	22451124	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:22451124C>T	uc003zpp.1	+	1	954	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	243					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCTCCAAATCCCATCAGCTTT	0.398000														30			4		0	0	0.000602	0	0
NF1	4763	broad.mit.edu	37	17	29562641	29562641	+	Nonsense_Mutation	SNP	C	T	T	rs137854562		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:29562641C>T	uc002hgg.3	+	27	4104	c.3721C>T	c.(3721-3723)Cga>Tga	p.R1241*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1241*|NF1_uc010csn.2_Nonsense_Mutation_p.R1101*|NF1_uc002hgi.1_Nonsense_Mutation_p.R274*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1241	Ras-GAP.				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.R1241*(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)		TGAACTAGCTCGAGTTCTGGT	0.388000			"""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)				131			26		0	0	0.006320	0	0
SCN3B	55800	broad.mit.edu	37	11	123516315	123516315	+	Missense_Mutation	SNP	C	T	T	rs140381249		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:123516315C>T	uc001pza.1	-	2	606	c.199G>A	c.(199-201)Gag>Aag	p.E67K	SCN3B_uc001pzb.1_Missense_Mutation_p.E67K	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	67	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		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;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TTACCGCCCTCGGGCCTGTAG	0.597000														70			18		0	0	0.007413	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175741	143175741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143175741C>T	uc003wdc.1	+	0	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	259					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AAATTTATCTCCATGCAGAAC	0.478000														93			13		0	0	0.003163	0	0
GP2	2813	broad.mit.edu	37	16	20335565	20335565	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20335565G>A	uc002dgv.3	-	2	191	c.108C>T	c.(106-108)ccC>ccT	p.P36P	GP2_uc002dgw.3_Silent_p.P36P|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	36						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGCTTCAATGGGGTTTCCAT	0.522000														32			5		0	0	0.001168	0	0
TRAF1	7185	broad.mit.edu	37	9	123673706	123673706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:123673706G>A	uc004bku.2	-	5	1363	c.791C>T	c.(790-792)tCc>tTc	p.S264F	TRAF1_uc011lyg.2_Missense_Mutation_p.S142F|TRAF1_uc010mvl.2_Missense_Mutation_p.S264F	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	264					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GCCATCGAAGGAGGCCTCCTC	0.612000														30			7		0	0	0.001984	0	0
NUP210	23225	broad.mit.edu	37	3	13364826	13364826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:13364826C>T	uc003bxv.1	-	33	4834	c.4751G>A	c.(4750-4752)aGa>aAa	p.R1584K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1584					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTTAGAGCTTCTGTCTCCCAC	0.572000														124			11		0	0	0.010729	0	0
PIAS2	9063	broad.mit.edu	37	18	44426698	44426698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:44426698G>A	uc002lck.3	-	5	1020	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_5'UTR|PIAS2_uc002lcl.3_Missense_Mutation_p.S278F|PIAS2_uc002lcm.3_Missense_Mutation_p.S278F|PIAS2_uc002lcn.1_Missense_Mutation_p.S282F	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	278	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGAAATGGAAATTTGGTT	0.453000														51			5		0	0	0.001984	0	0
THBS3	7059	broad.mit.edu	37	1	155175068	155175068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155175068G>A	uc001fix.3	-	2	431	c.326C>T	c.(325-327)gCc>gTc	p.A109V	THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_Missense_Mutation_p.A109V|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_Missense_Mutation_p.A71V	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	109	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGTTCACGGCGTGGACTTT	0.642000														42			4		0	0	0.000602	0	0
PEX6	5190	broad.mit.edu	37	6	42942623	42942623	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:42942623G>A	uc003otf.3	-	1	1129	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	346					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTGGGTATCTGAAAGTGCCGG	0.478000														86			23		0	0	0.002780	0	0
THSD7B	80731	broad.mit.edu	37	2	137814413	137814413	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:137814413G>A	uc002tva.1	+	1	470	c.470G>A	c.(469-471)tGg>tAg	p.W157*	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Nonsense_Mutation_p.W47*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCTTACCATGGTCCAACTGT	0.488000														133			19		0	0	0.008871	0	0
BGN	633	broad.mit.edu	37	X	152772344	152772344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:152772344G>A	uc004fhr.2	+	5	969	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	245						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCCATCGAACTGGAGGA	0.602000														37			13		0	0	0.003163	0	0
GRID1	2894	broad.mit.edu	37	10	87362151	87362151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:87362151G>A	uc001kdl.1	-	15	3010	c.2909C>T	c.(2908-2910)tCa>tTa	p.S970L	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.S541L|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	970						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)	CCCGTTGGGTGACCTGTGTTT	0.667000										Multiple Myeloma(13;0.14)				54			7		0	0	0.004482	0	0
MAP1A	4130	broad.mit.edu	37	15	43821450	43821450	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:43821450G>A	uc001zrt.3	+	3	8246	c.7779G>A	c.(7777-7779)gaG>gaA	p.E2593E		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2593						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAGTAGAGAGGCTACGGG	0.667000														35			5		0	0	0.000602	0	0
CACNA1S	779	broad.mit.edu	37	1	201008964	201008964	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201008964G>A	uc001gvv.3	-	43	5844	c.5617C>T	c.(5617-5619)Ctg>Ttg	p.L1873L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1873					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)	GGGCATCACAGCCTTGGAGGA	0.637000														55			5		0	0	0.001168	0	0
WSCD2	9671	broad.mit.edu	37	12	108589902	108589902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:108589902G>A	uc001tms.3	+	1	1037	c.293G>A	c.(292-294)gGg>gAg	p.G98E	WSCD2_uc001tmt.3_Missense_Mutation_p.G98E	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	98						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAAGGATGGGAATGAGAGA	0.597000														52			11		0	0	0.010729	0	0
IFNB1	3456	broad.mit.edu	37	9	21077465	21077465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21077465C>T	uc003zok.3	-	0	479	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	135					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CATGAGTTTTCCCCTGGTGAA	0.443000														105			12		0	0	0.010729	0	0
DSG1	1828	broad.mit.edu	37	18	28934476	28934476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28934476C>T	uc002kwp.3	+	14	2529	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S	DSG1_uc010xbp.2_Missense_Mutation_p.P132S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	773					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGACCTTGATCCTTCTTGGCC	0.488000														71			7		0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887503	12887503	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12887503C>T	uc001auk.2	-	2	550	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	118										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CATCCAGAGTCCTGTTCTTGA	0.478000														260			60		0	0	0.014410	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882342	78882342	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:78882342G>A	uc002bdy.3	+	4	809	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	203					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TAATTCTAGAGGACCAAGATG	0.408000														68			6		0	0	0.001984	0	0
GPLD1	2822	broad.mit.edu	37	6	24456865	24456865	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24456865C>T	uc003ned.1	-	13	1120	c.1009_splice	c.e13-1	p.D337_splice	GPLD1_uc010jpr.1_Splice_Site_p.D174_splice|GPLD1_uc010jps.1_Splice_Site_p.D337_splice	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	337						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATGGAATCCTGAAATAAA	0.398000														96			7		0	0	0.001984	0	0
LPXN	9404	broad.mit.edu	37	11	58295563	58295563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:58295563G>A	uc001nmw.3	-	7	989	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	LPXN_uc009ymp.3_Missense_Mutation_p.L152F|LPXN_uc010rkj.2_Missense_Mutation_p.L287F|LPXN_uc010rkk.2_Missense_Mutation_p.L262F	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	282	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGCTGAAAGGTAGTTTTCC	0.473000														69			17		0	0	0.010504	0	0
PLOD2	5352	broad.mit.edu	37	3	145803060	145803060	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:145803060C>T	uc003evr.1	-	11	1634	c.1128_splice	c.e11-1	p.M376_splice	PLOD2_uc003evq.1_Silent_p.R36R|PLOD2_uc011bnm.1_Splice_Site_p.M321_splice|PLOD2_uc003evs.1_Splice_Site_p.M376_splice	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	376					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GGCAAAAGTCCCTAACAGTGA	0.289000														25			5		0	0	0.000602	0	0
FAM123C	205147	broad.mit.edu	37	2	131520094	131520094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:131520094G>A	uc021voy.1	+	0	449	c.449G>A	c.(448-450)aGg>aAg	p.R150K	FAM123C_uc002trw.2_Missense_Mutation_p.R150K|FAM123C_uc010fmv.2_Missense_Mutation_p.R150K|FAM123C_uc010fms.1_Missense_Mutation_p.R150K|FAM123C_uc010fmt.1_Missense_Mutation_p.R150K|FAM123C_uc010fmu.1_Missense_Mutation_p.R150K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	150										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCGAGGAAGAGGATTTCCCTG	0.602000														41			6		0	0	0.001984	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444536	49444536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:49444536C>T	uc001jgi.3	-	8	1313	c.982G>A	c.(982-984)Gga>Aga	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)		ACAACCGATCCCGGCAGATGT	0.552000														40			4		0	0	0.009096	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667550	65667550	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65667550G>A	uc002aos.2	-	1	546	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	98	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAAGTGACGGATCATCAAGG	0.607000														32			5		0	0	0.001168	0	0
UBR3	130507	broad.mit.edu	37	2	170806490	170806490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170806490G>A	uc010zdi.2	+	22	3460	c.3460G>A	c.(3460-3462)Gaa>Aaa	p.E1154K	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_5'UTR|UBR3_uc002uft.4_Missense_Mutation_p.E7K	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1154					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACGCATCATTGAAGAGATATG	0.363000														65			7		0	0	0.003080	0	0
NXPH3	11248	broad.mit.edu	37	17	47656183	47656183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:47656183G>A	uc002ipa.3	+	1	564	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	94	III.				neuropeptide signaling pathway	extracellular region		p.S93L(1)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCCACCCTCAGCCAAGGTGAA	0.617000														27			4		0	0	0.009096	0	0
GPR161	23432	broad.mit.edu	37	1	168054872	168054872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:168054872C>T	uc010pln.2	-	6	2081	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	GPR161_uc001gfb.3_Missense_Mutation_p.G364E|GPR161_uc001gfc.3_Missense_Mutation_p.G496E|GPR161_uc010pll.2_Missense_Mutation_p.G406E|GPR161_uc010plm.2_Missense_Mutation_p.G382E|GPR161_uc009wvo.3_Missense_Mutation_p.G513E|GPR161_uc001gfd.3_Missense_Mutation_p.G496E	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	496					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAAGCCGCCCCCCGGGACAGT	0.587000														130			25		0	0	0.012213	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510236	77510236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:77510236G>A	uc001dhi.3	+	2	784	c.609G>A	c.(607-609)atG>atA	p.M203I	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	203					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGCCTTCATGATTACTCGCC	0.582000														94			24		0	0	0.006320	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675298	53675298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:53675298C>T	uc002ehp.3	-	17	2837	c.2773G>A	c.(2773-2775)Gga>Aga	p.G925R	RPGRIP1L_uc002eho.4_Missense_Mutation_p.G925R|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.G925R|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.G925R|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.G925R	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	925					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)				GTTATTGATCCACTTGGTGGA	0.393000														386			48		0	0	0.014410	0	0
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:45222924C>T	uc003tnb.3	+	2	421	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632000														125			6		0	0	0.001984	0	0
FGF14	2259	broad.mit.edu	37	13	102527575	102527575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:102527575C>T	uc001vpf.2	-	1	376	c.280G>A	c.(280-282)Gga>Aga	p.G94R	FGF14_uc001vpe.2_Missense_Mutation_p.G89R	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	89					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.D93Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCGAGAGCTCCATCGGGGTGC	0.448000														48			11		0	0	0.013537	0	0
SDK1	221935	broad.mit.edu	37	7	4152925	4152925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:4152925C>T	uc003smx.3	+	23	3578	c.3439C>T	c.(3439-3441)Cga>Tga	p.R1147*	SDK1_uc010kso.3_Nonsense_Mutation_p.R423*	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1147	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1147*(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTAGATTTCGAATGAAGCA	0.537000														181			39		0	0	0.009718	0	0
TDRD5	163589	broad.mit.edu	37	1	179620077	179620077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179620077G>A	uc010pnp.2	+	11	2394	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	TDRD5_uc021pfm.1_Missense_Mutation_p.E626K|TDRD5_uc001gnf.2_Missense_Mutation_p.E626K|TDRD5_uc021pfn.1_Missense_Mutation_p.E626K|TDRD5_uc001gnh.2_Missense_Mutation_p.E181K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	626					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						GGTAGTGGATGAATATGTAGA	0.398000														77			9		0	0	0.008291	0	0
C2orf56	55471	broad.mit.edu	37	2	37468928	37468929	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:37468928_37468929CC>TT	uc002rqa.4	+	4	691_692	c.616_617CC>TT	c.(616-618)cca>TTa	p.P206L	C2orf56_uc010ynj.1_Non-coding_Transcript|C2orf56_uc002rqc.4_Intron|C2orf56_uc010ynk.2_Intron|C2orf56_uc010ynl.2_Missense_Mutation_p.P179L|C2orf56_uc010fah.3_Intron	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	Homo sapiens chromosome 2 open reading frame 56 (C2orf56), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	206					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13		all_hematologic(82;0.21)				GCACGATGTTCCAAAAGGTAAT	0.396000														31			6		0	0	0.004672	0	0
IFT140	9742	broad.mit.edu	37	16	1570249	1570249	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1570249G>T	uc002cmb.3	-	27	4118	c.3756C>A	c.(3754-3756)aaC>aaA	p.N1252K	IFT140_uc002clz.3_Missense_Mutation_p.N865K	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1252										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACTGCAGGTAGTTAGCAGCCA	0.572000														81			32		2.05212e-20	2.13931e-20	0.005524	1	0
GOLGA6B	55889	broad.mit.edu	37	15	72954753	72954753	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:72954753G>A	uc010uks.1	+	10	1049	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	336										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAACAAAAGCAGAGACTCC	0.562000														294			23		0	0	0.002780	0	0
DIO2	1734	broad.mit.edu	37	14	80669237	80669237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:80669237G>A	uc021rxa.1	-	2	778	c.725C>T	c.(724-726)cCc>cTc	p.P242L	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.P206L|DIO2_uc010asy.3_Missense_Mutation_p.P206L	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	206					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCGGCACTGGGGCGGCAAGGA	0.542000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			11		0	0	0.013537	0	0
ABCC9	10060	broad.mit.edu	37	12	22005418	22005418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:22005418C>T	uc001rfh.3	-	20	2547	c.2527G>A	c.(2527-2529)Gac>Aac	p.D843N	ABCC9_uc001rfi.1_Missense_Mutation_p.D843N	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	843	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGTGAATGTCCAGGGCTGAG	0.378000														32			4		0	0	0.000602	0	0
PPP1R42	286187	broad.mit.edu	37	8	67925324	67925324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:67925324C>T	uc003xxc.3	-	3	449	c.304G>A	c.(304-306)Gga>Aga	p.G102R		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 42 (PPP1R42), mRNA.	102																	TAATTGCCTCCCAGATACCTG	0.383000														35			14		0	0	0.003163	0	0
TCR	0	broad.mit.edu	37	14	22740241	22740241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22740241G>A	uc001wdn.3	+	1	178	c.145G>A	c.(145-147)Gag>Aag	p.E49K	TCRA_uc001wbw.2_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCR_uc021rpx.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		TGACACCAGTGAGAATAATTA	0.478000														18			6		0	0	0.001984	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540285	169540285	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:169540285C>T	uc003fgb.3	+	0	576	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	192										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCCTGGAAATCATTGACCTGG	0.493000														51			8		0	0	0.003080	0	0
CHD5	26038	broad.mit.edu	37	1	6214775	6214776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6214775_6214776GG>AA	uc001amb.2	-	4	800_801	c.689_690CC>TT	c.(688-690)ccc>cTT	p.P230L		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	230					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACCTGCGGGGGGCTGACGGC	0.683000														35			4		0	0	0.004672	0	0
ERO1L	30001	broad.mit.edu	37	14	53149100	53149100	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:53149100G>A	uc001wzv.3	-	2	481	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	87					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TGTCATTCCAGAAAGGACACG	0.328000														50			13		0	0	0.004007	0	0
MAG	4099	broad.mit.edu	37	19	35791122	35791122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:35791122G>A	uc002nyy.2	+	5	983	c.785G>A	c.(784-786)gGg>gAg	p.G262E	MAG_uc002nyx.2_Missense_Mutation_p.G262E|MAG_uc010eds.2_Missense_Mutation_p.G237E|MAG_uc002nyz.2_Missense_Mutation_p.G262E	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	262	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGCTCTGTGGGGCTGACAGC	0.677000														5			3		0	0	0.004672	0	0
CENPE	1062	broad.mit.edu	37	4	104080030	104080030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:104080030G>A	uc003hxb.1	-	22	2705	c.2615C>T	c.(2614-2616)aCc>aTc	p.T872I	CENPE_uc003hxc.1_Missense_Mutation_p.T847I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	872					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.K871N(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTCTTGGGTCTTGTAAGA	0.373000														28			10		0	0	0.006214	0	0
KCTD16	57528	broad.mit.edu	37	5	143853417	143853417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:143853417G>A	uc003lnm.1	+	3	1656	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	KCTD16_uc003lnn.1_Missense_Mutation_p.D343N	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	343						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCAGACTCTGGACCGTCCCAT	0.592000														34			5		0	0	0.001168	0	0
LGSN	51557	broad.mit.edu	37	6	64004938	64004938	+	Missense_Mutation	SNP	C	T	T	rs144073733		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64004938C>T	uc003peh.3	-	1	77	c.43G>A	c.(43-45)Gat>Aat	p.D15N	LGSN_uc003pei.3_Missense_Mutation_p.D15N|LGSN_uc003pej.1_Missense_Mutation_p.D15N	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	15					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.D15N(2)		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)	TTGCCTTCATCTCTTGTTGAG	0.343000														40			10		0	0	0.010729	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185774	32185774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:32185774G>A	uc003obb.3	-	8	1761	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P541L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	541	EGF-like 13; calcium-binding (Potential).				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						GTACTCACCAGGCAGGCAGAT	0.597000														206			14		0	0	0.004007	0	0
MACF1	23499	broad.mit.edu	37	1	39812801	39812801	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39812801G>A	uc021olw.1	+	4	6054	c.6054G>A	c.(6052-6054)caG>caA	p.Q2018Q	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3583					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)			GGTCCTTCCAGGACATTTTGG	0.512000														54			13		0	0	0.003163	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294758	42294758	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:42294758G>A	uc003xpe.3	-	7	1641	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	SLC20A2_uc010lxl.3_Silent_p.S424S|SLC20A2_uc010lxm.3_Silent_p.S424S|SLC20A2_uc011lcu.2_Silent_p.S226S	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	424					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCCTCTTCTTGGAGTAGGACA	0.632000														39			8		0	0	0.003080	0	0
PCSK5	5125	broad.mit.edu	37	9	78547359	78547359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:78547359C>T	uc004akc.2	+	1	795	c.257C>T	c.(256-258)tCg>tTg	p.S86L	PCSK5_uc004ajy.2_Missense_Mutation_p.S86L|PCSK5_uc004ajz.3_Missense_Mutation_p.S86L|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	86					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S86*(4)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGTTATCTCGAGCAGAGGG	0.453000														49			8		0	0	0.004482	0	0
MACF1	23499	broad.mit.edu	37	1	39950307	39950307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39950307C>T	uc021olw.1	+	62	17465	c.17465C>T	c.(17464-17466)cCa>cTa	p.P5822L	MACF1_uc021ols.1_Missense_Mutation_p.P5311L|MACF1_uc021olt.1_Missense_Mutation_p.P5314L|MACF1_uc001cde.2_Missense_Mutation_p.P228L|MACF1_uc001cdg.3_Missense_Mutation_p.P142L|MACF1_uc001cdh.3_Missense_Mutation_p.P105L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7272					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)			TTGAAACGACCAACACCAACT	0.403000														89			9		0	0	0.008291	0	0
OR3A1	4994	broad.mit.edu	37	17	3195080	3195080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3195080C>T	uc002fvh.1	-	0	797	c.797G>A	c.(796-798)gGt>gAt	p.G266D		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G266V(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTTGGTTGAACCCAGTCGCAT	0.448000														65			7		0	0	0.001984	0	0
NBPF7	343505	broad.mit.edu	37	1	120384086	120384086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:120384086G>A	uc010oxk.2	-	2	1097	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	159						cytoplasm		p.S159S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CTGCCCCTGGGAGTTGTCATG	0.577000														293			68		0	0	0.014410	0	0
PYGM	5837	broad.mit.edu	37	11	64526175	64526175	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64526175C>T	uc001oax.4	-	2	1061	c.244_splice	c.e2-1	p.R82_splice	PYGM_uc001oay.4_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	82					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GTAGTAGATCCTCTGCCCAGA	0.602000														32			8		0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19430687	19430687	+	Silent	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19430687A>G	uc001bbi.3	-	86	12796	c.12792T>C	c.(12790-12792)ggT>ggC	p.G4264G	UBR4_uc010ocw.2_5'Flank|UBR4_uc001bbg.3_5'UTR|UBR4_uc001bbh.3_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4264					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCACAGTACCCACCAAGC	0.512000														55			11		0	0	0.013537	0	0
CACNA1E	777	broad.mit.edu	37	1	181686317	181686317	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:181686317C>T	uc009wxt.3	+	10	1599	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CACNA1E_uc001gow.3_Silent_p.S468S|CACNA1E_uc009wxs.3_Silent_p.S468S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	468					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						TGCGCATCTCCATTCGCCACA	0.532000														75			11		0	0	0.013537	0	0
CALCRL	10203	broad.mit.edu	37	2	188216844	188216844	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:188216844G>A	uc010frt.3	-	11	1508	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CALCRL_uc002upv.4_Silent_p.F375F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	375						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCCATACCTGGAAGTGCATAA	0.398000														45			6		0	0	0.001168	0	0
WFDC8	90199	broad.mit.edu	37	20	44180689	44180689	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:44180689C>T	uc002xow.3	-	5	781	c.702G>A	c.(700-702)ctG>ctA	p.L234L	WFDC8_uc002xox.3_Silent_p.L234L	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	234	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CCATACATTTCAGTCCACAAT	0.418000														90			8		0	0	0.010729	0	0
ABHD2	11057	broad.mit.edu	37	15	89738513	89738513	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:89738513C>T	uc002bnj.2	+	14	2055	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	ABHD2_uc002bnk.2_Silent_p.F379F	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	379						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACTTGGGCTTCTTTGAGGGCT	0.547000														40			4		0	0	0.009096	0	0
NR6A1	2649	broad.mit.edu	37	9	127289121	127289121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:127289121G>A	uc004bor.1	-	7	1316	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	NR6A1_uc004boq.1_Missense_Mutation_p.H375Y|NR6A1_uc010mwq.1_Missense_Mutation_p.H376Y	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	380					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TTTAGCTGATGGAACTTGTGA	0.478000														61			22		0	0	0.003330	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540380	169540380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:169540380C>T	uc003fgb.3	+	0	671	c.671C>T	c.(670-672)cCc>cTc	p.P224L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	224										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AACAACCTTCCCGTTCTGCCC	0.542000														46			17		0	0	0.004990	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818241	146818241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:146818241G>A	uc003weu.2	+	5	1441	c.925G>A	c.(925-927)Gac>Aac	p.D309N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	309	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGACTACCTGGACTTGGACTA	0.433000										HNSCC(39;0.1)				38			7		0	0	0.001984	0	0
MAP3K3	4215	broad.mit.edu	37	17	61770952	61770952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61770952C>T	uc002jbg.3	+	15	2015	c.1696C>T	c.(1696-1698)Ccg>Tcg	p.P566S	MAP3K3_uc002jbe.3_Missense_Mutation_p.P597S|MAP3K3_uc002jbf.3_Missense_Mutation_p.P597S|MAP3K3_uc002jbh.3_Missense_Mutation_p.P593S|MAP3K3_uc010wpo.2_Missense_Mutation_p.P481S|MAP3K3_uc010wpp.2_Missense_Mutation_p.P562S	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	566	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAGAAACCACCGTGGGCAGA	0.597000														63			28		0	0	0.009535	0	0
OR1E1	8387	broad.mit.edu	37	17	3301098	3301098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3301098C>T	uc002fvj.1	-	0	607	c.607G>A	c.(607-609)Gga>Aga	p.G203R		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						ATGAGCCCTCCCATGATAAAT	0.463000														15			4		0	0	0.001168	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227300563	227300563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:227300563C>T	uc001hqr.3	-	12	2642	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	CDC42BPA_uc001hqs.3_Intron|CDC42BPA_uc009xes.3_Missense_Mutation_p.D567N|CDC42BPA_uc010pvs.2_Missense_Mutation_p.D567N	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	567					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CAGTGTGCGTCTTTCAGCTCT	0.423000														139			9		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9065577	9065577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9065577G>A	uc002mkp.3	-	2	22073	c.21869C>T	c.(21868-21870)tCc>tTc	p.S7290F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7292	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						ACCAGAGATGGATGTTCTGCT	0.463000														47			12		0	0	0.013537	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032274	10032274	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10032274G>A	uc010uym.2	-	3	859	c.549C>T	c.(547-549)ttC>ttT	p.F183F	GRIN2A_uc002czo.4_Silent_p.F183F|GRIN2A_uc010uyn.2_Silent_p.F26F|GRIN2A_uc002czr.4_Silent_p.F183F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	183					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|zinc ion binding	p.F183I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGAAGCTGATGAATTCCCTGT	0.507000														79			6		0	0	0.001984	0	0
ADCY8	114	broad.mit.edu	37	8	131922025	131922025	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:131922025C>T	uc003ytd.4	-	5	1825	c.1569G>A	c.(1567-1569)agG>agA	p.R523R	ADCY8_uc010mds.3_Silent_p.R523R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	523					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)			ACTGCCACTTCCTTAGTCCCA	0.478000										HNSCC(32;0.087)				136			19		0	0	0.008871	0	0
DSC3	1825	broad.mit.edu	37	18	28598661	28598661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28598661C>T	uc002kwj.4	-	7	1203	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	DSC3_uc002kwi.4_Missense_Mutation_p.D350N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	350	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTGCATTATCATTTGAATCT	0.308000														38			8		0	0	0.003080	0	0
N6AMT2	221143	broad.mit.edu	37	13	21306032	21306032	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:21306032T>G	uc001uno.1	-	3	537	c.456A>C	c.(454-456)aaA>aaC	p.K152N	N6AMT2_uc009zzr.1_Missense_Mutation_p.K152N|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	152							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTTCCGATGTTTTTCTGAGAC	0.438000														58			5		0	0	0.001168	0	0
DMBT1	1755	broad.mit.edu	37	10	124380671	124380671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124380671G>A	uc001lgk.1	+	40	5102	c.4996G>A	c.(4996-4998)Gat>Aat	p.D1666N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1656N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1038N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1666N|DMBT1_uc021qag.1_Missense_Mutation_p.D1656N|DMBT1_uc021qah.1_Missense_Mutation_p.D1038N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1666N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.D369N|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1666	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AACCGTGTGTGATGACAGCTG	0.607000														195			39		0	0	0.007835	0	0
TIAM2	26230	broad.mit.edu	37	6	155450721	155450721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:155450721G>A	uc003qqb.3	+	5	1637	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TIAM2_uc003qqe.3_Missense_Mutation_p.E122K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	122					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTGGCCACGAGCTGGCAGA	0.557000														20			7		0	0	0.003080	0	0
CDYL2	124359	broad.mit.edu	37	16	80646658	80646658	+	Silent	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:80646658A>C	uc002ffs.3	-	4	1188	c.1083T>G	c.(1081-1083)ggT>ggG	p.G361G		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	361						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGATGGAGGCACCCAGGCCCA	0.602000														47			5		0	0	0.001168	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380268	109380268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:109380268C>T	uc001dwa.3	-	6	1709	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	AKNAD1_uc010ovb.2_Missense_Mutation_p.M187I|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	480										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGCTTTCATCCATTTTCTCTT	0.413000														63			12		0	0	0.010729	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160479	132160479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:132160479G>A	uc003kxx.3	-	5	1874	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	SHROOM1_uc003kxy.2_Missense_Mutation_p.P357S	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	357					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTCTGCAGGATACATCACC	0.567000														30			8		0	0	0.003080	0	0
LRRC15	131578	broad.mit.edu	37	3	194081252	194081252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:194081252C>T	uc003ftt.3	-	2	664	c.539G>A	c.(538-540)gGa>gAa	p.G180E	LRRC15_uc003ftu.3_Missense_Mutation_p.G174E|LRRC15_uc021xiy.1_Missense_Mutation_p.G174E	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	174						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTTCGTGAGTCCTACCAGGTG	0.592000														138			18		0	0	0.012319	0	0
AIM1	202	broad.mit.edu	37	6	106967774	106967774	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:106967774C>T	uc003prh.3	+	1	2379	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	489							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAAGCAGTTTCCCATGCACTG	0.473000														58			21		0	0	0.002780	0	0
DNAH9	1770	broad.mit.edu	37	17	11671843	11671843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11671843G>A	uc002gne.3	+	36	7312	c.7244G>A	c.(7243-7245)gGa>gAa	p.G2415E	DNAH9_uc010coo.3_Missense_Mutation_p.G1709E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2415					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTCCCAAGGAACCATCTTT	0.502000														41			15		0	0	0.002450	0	0
GTF2I	2969	broad.mit.edu	37	7	74159269	74159269	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:74159269C>T	uc003uau.3	+	20	2293	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GTF2I_uc003uav.3_Silent_p.F620F|GTF2I_uc003uaw.3_Silent_p.F621F|GTF2I_uc003uay.3_Silent_p.F619F|GTF2I_uc003uax.3_Silent_p.F600F	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	641					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAATCAAGTTCGTTGTTAAAA	0.413000														71			5		0	0	0.000602	0	0
INHA	3623	broad.mit.edu	37	2	220439824	220439824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:220439824G>A	uc002vmk.2	+	1	820	c.677G>A	c.(676-678)gGa>gAa	p.G226E		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	226					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCACCCAGTGGAGGGGAGAGA	0.682000														24			11		0	0	0.008291	0	0
COL4A2	1284	broad.mit.edu	37	13	111138038	111138038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:111138038G>A	uc001vqx.3	+	33	3351	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1021	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCTGTCAGGAATCCCTGGG	0.617000														45			12		0	0	0.010729	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238655	57238655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:57238655C>T	uc002elb.3	+	1	363	c.85C>T	c.(85-87)Cac>Tac	p.H29Y	RSPRY1_uc002elc.3_Missense_Mutation_p.H29Y|RSPRY1_uc002eld.3_Missense_Mutation_p.H29Y|RSPRY1_uc002ele.1_Missense_Mutation_p.H29Y	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	29						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCACATAGCCCACTTCCTAGG	0.507000														108			24		0	0	0.003330	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603272	47603272	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47603272C>T	uc001cqv.1	+	0	166	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	CYP4A22_uc009vyo.3_Silent_p.L39L|CYP4A22_uc009vyp.3_Silent_p.L39L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	39						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGCTCTACCTGCATAGGCA	0.622000														43			11		0	0	0.013537	0	0
ABCA4	24	broad.mit.edu	37	1	94476400	94476401	+	Missense_Mutation	DNP	GA	AC	AC	rs61750635		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94476400_94476401GA>AC	uc001dqh.3	-	39	5773_5774	c.5669_5670TC>GT	c.(5668-5670)ttc>tGT	p.F1890C	ABCA4_uc001dqi.1_Missense_Mutation_p.F9C|ABCA4_uc009wdp.1_Missense_Mutation_p.F158C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1890			Missing (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Y1889*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTCAGGAGGAAGTACACCAC	0.589000														32			4		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9088521	9088521	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9088521C>T	uc002mkp.3	-	0	3498	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1098	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						ATTGGCTTGTCCTTCCTGGAG	0.433000														53			5		0	0	0.003080	0	0
FAF2	23197	broad.mit.edu	37	5	175921237	175921237	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175921237T>A	uc003mej.4	+	6	675	c.622T>A	c.(622-624)Ttc>Atc	p.F208I		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	208					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TAGGATGCTCTTCTGGGCATG	0.398000														49			5		0	0	0.003080	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720138	160720138	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160720138C>T	uc001fwq.3	+	3	709	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	SLAMF7_uc010pjn.2_Silent_p.L138L|SLAMF7_uc001fws.3_Silent_p.L125L|SLAMF7_uc001fwr.3_Silent_p.L232L|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	232					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGTGTCTCCTGTTGGTGCC	0.502000														176			16		0	0	0.004990	0	0
TREML4	285852	broad.mit.edu	37	6	41204223	41204223	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41204223G>A	uc003oqc.3	+	5	611	c.507_splice	c.e5-1	p.R169_splice	TREML4_uc003oqd.3_Splice_Site	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	169						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTTCCCTGCAGGAAATCAAGA	0.592000														34			4		0	0	0.000602	0	0
EPHA4	2043	broad.mit.edu	37	2	222365857	222365857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:222365857C>T	uc002vmq.3	-	3	901	c.859G>A	c.(859-861)Gat>Aat	p.D287N	EPHA4_uc002vmr.2_Missense_Mutation_p.D287N|EPHA4_uc010zlm.1_Missense_Mutation_p.D228N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	287	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGTGGCATCCGTGGAGAGA	0.488000														22			6		0	0	0.001984	0	0
KCTD6	200845	broad.mit.edu	37	3	58486841	58486841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:58486841C>T	uc003dkj.4	+	2	313	c.196C>T	c.(196-198)Cga>Tga	p.R66*	KCTD6_uc003dkk.4_Nonsense_Mutation_p.R66*	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	66	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		ACCTCTTTTCCGATATGTCCT	0.433000														42			7		0	0	0.003080	0	0
PDLIM3	27295	broad.mit.edu	37	4	186435444	186435444	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:186435444G>A	uc003ixw.4	-	3	502	c.378C>T	c.(376-378)ttC>ttT	p.F126F	PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron|PDLIM3_uc003ixy.3_Missense_Mutation_p.S189L|PDLIM3_uc003ixz.2_Missense_Mutation_p.S189L	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	126						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCGGGATCACGAAAGGTTTGG	0.463000														66			21		0	0	0.003330	0	0
DMBT1	1755	broad.mit.edu	37	10	124402787	124402787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124402787C>T	uc001lgk.1	+	52	7221	c.7115C>T	c.(7114-7116)tCc>tTc	p.S2372F	DMBT1_uc001lgl.1_Missense_Mutation_p.S2362F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1744F|DMBT1_uc021qaf.1_Missense_Mutation_p.S2372F|DMBT1_uc021qag.1_Missense_Mutation_p.S2362F|DMBT1_uc021qah.1_Missense_Mutation_p.S1744F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2371F|DMBT1_uc010qtx.1_Missense_Mutation_p.S1092F|DMBT1_uc009yab.1_Missense_Mutation_p.S1075F|DMBT1_uc009yac.1_Missense_Mutation_p.S666F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2372	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.S2372S(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCCTCTTCCCGCTGCTAC	0.602000														59			8		0	0	0.006214	0	0
PTH2R	5746	broad.mit.edu	37	2	209308228	209308228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:209308228C>T	uc010zjb.2	+	5	984	c.698C>T	c.(697-699)tCc>tTc	p.S233F	PTH2R_uc002vdb.3_Missense_Mutation_p.S222F	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	222						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCACAAAATTCCATTGAGGCA	0.373000														31			7		0	0	0.006214	0	0
CCBP2	1238	broad.mit.edu	37	3	42906138	42906138	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:42906138C>T	uc003cme.3	+	2	322	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CCBP2_uc003cmf.3_Silent_p.F48F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.F48F	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	48					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCAAAGTCTTCCTCCCAGTCT	0.512000														102			14		0	0	0.003163	0	0
MDH1B	130752	broad.mit.edu	37	2	207615786	207615786	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:207615786C>T	uc002vbs.3	-	5	979	c.924G>A	c.(922-924)gtG>gtA	p.V308V	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.V308V|MDH1B_uc021vvm.1_Silent_p.V210V	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	308					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CCCAAATGATCACGTCTTTAA	0.323000														49			13		0	0	0.001855	0	0
DAXX	1616	broad.mit.edu	37	6	33289562	33289563	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33289562_33289563GG>AA	uc003oec.3	-	1	344_345	c.140_141CC>TT	c.(139-141)gcc>gTT	p.A47V	DAXX_uc021ywn.1_Missense_Mutation_p.A47V|DAXX_uc021ywo.1_Missense_Mutation_p.A47V|DAXX_uc011dre.2_Missense_Mutation_p.A59V|DAXX_uc003oed.3_Missense_Mutation_p.A47V|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	47	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGCTTCCTCTGGCCCCATGAGG	0.589000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									196			37		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215847770	215847770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:215847770G>A	uc001hku.1	-	62	13870	c.13483C>T	c.(13483-13485)Cgt>Tgt	p.R4495C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4495	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAAATCACGATAGCGTGTT	0.458000										HNSCC(13;0.011)				121			13		0	0	0.004007	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295189	295189	+	Missense_Mutation	SNP	C	G	G	rs143890778	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:295189C>G	uc004cpg.3	-	12	1905	c.1641G>C	c.(1639-1641)caG>caC	p.Q547H	PPP2R3B_uc004cpf.3_Missense_Mutation_p.Q148H	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	547					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				AGAAGGGCCTCTGGGCCAGCG	0.706000														24			3		0	0	0.004672	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512782	68512782	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:68512782G>A	uc021ooq.1	-	0	199	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.L67L	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	67					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGGTCGGCAGGTACTCATGA	0.592000														76			10		0	0	0.010729	0	0
KLK5	25818	broad.mit.edu	37	19	51452207	51452207	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51452207T>A	uc002pue.3	-	4	718	c.500A>T	c.(499-501)aAa>aTa	p.K167I	KLK5_uc002puf.3_Missense_Mutation_p.K167I|KLK5_uc002pug.3_Missense_Mutation_p.K167I	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	167	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCTGACATCTTTAGTGGGACG	0.542000														41			9		0	0	0.006214	0	0
RIN3	79890	broad.mit.edu	37	14	93118037	93118037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:93118037C>T	uc001yap.3	+	5	795	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Missense_Mutation_p.H140Y|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	215			H -> L (in dbSNP:rs3829947).|H -> P (in dbSNP:rs3829947).|H -> R (in dbSNP:rs3829947).		endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCACAGCCCATGACGCAAA	0.592000														42			6		0	0	0.001168	0	0
ZNF600	162966	broad.mit.edu	37	19	53268876	53268876	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53268876G>A	uc002qab.4	-	2	2419	c.2133C>T	c.(2131-2133)caC>caT	p.H711H	ZNF600_uc021uyz.1_Silent_p.H711H	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CTGCCTGATGGTGAATAAGTG	0.398000														61			7		0	0	0.003080	0	0
ELOVL2	54898	broad.mit.edu	37	6	11000335	11000335	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:11000335C>T	uc003mzp.4	-	3	479	c.318G>A	c.(316-318)ggG>ggA	p.G106G		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	106					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGTCAGCTTCCCCTGCGCTGG	0.468000														57			6		0	0	0.001984	0	0
KAT7	11143	broad.mit.edu	37	17	47900574	47900574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:47900574C>T	uc002ipm.3	+	11	1613	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	KAT7_uc002ipl.2_Missense_Mutation_p.S436L|KAT7_uc010wma.2_Missense_Mutation_p.S327L|KAT7_uc010wmb.2_Missense_Mutation_p.S356L|KAT7_uc010wmc.2_Missense_Mutation_p.S297L|KAT7_uc010wmd.2_Missense_Mutation_p.S310L|KAT7_uc010wme.2_Missense_Mutation_p.S280L|KAT7_uc010wmf.2_Missense_Mutation_p.S131L|KAT7_uc010wmg.2_Missense_Mutation_p.S21L	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	466					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GAAAAGAATTCATTCCTCAAC	0.403000														46			6		0	0	0.001984	0	0
BTN1A1	696	broad.mit.edu	37	6	26505269	26505269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:26505269G>A	uc003nif.4	+	2	601	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	182	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity	p.K181K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AACTTCCAAGGGAGAGAAGTT	0.478000														37			4		0	0	0.000602	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982903	131982903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:131982903C>T	uc003vra.4	-	3	1679	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	484	Sema.					integral to membrane|intracellular|plasma membrane		p.D484Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGGCCATATCCCGGAGGACT	0.577000														61			14		0	0	0.003163	0	0
KRT37	8688	broad.mit.edu	37	17	39577662	39577662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39577662C>T	uc002hwp.1	-	5	1245	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	400	Coil 2.|Rod.					intermediate filament	structural molecule activity			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)				GTGGCAATCTCGTTCTCCAAC	0.557000														34			4		0	0	0.000602	0	0
SCAND3	114821	broad.mit.edu	37	6	28541181	28541181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:28541181G>A	uc003nlo.3	-	3	3103	c.2485C>T	c.(2485-2487)Ccg>Tcg	p.P829S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	829					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.P829L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttggcaaccggaagtgctact	0.398000														106			22		0	0	0.014323	0	0
IFNA8	3445	broad.mit.edu	37	9	21409494	21409494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21409494G>A	uc003zpc.1	+	0	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_002170	NP_002161	P32881	IFNA8_HUMAN	Homo sapiens interferon, alpha 8 (IFNA8), mRNA.	107					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	p.E107fs*6(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CCTTCTAGATGAATTCTACAT	0.507000														37			9		0	0	0.004482	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121878	46121878	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:46121878T>C	uc001jcp.4	-	6	1635	c.1393A>G	c.(1393-1395)Agt>Ggt	p.S465G	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.S465G|ZFAND4_uc009xmu.3_Missense_Mutation_p.S391G|ZFAND4_uc001jcn.4_Missense_Mutation_p.S391G|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	465							zinc ion binding										TTGTGAGGACTTAATTCCCGG	0.448000														139			17		0	0	0.002780	0	0
DNAH17	8632	broad.mit.edu	37	17	76571059	76571059	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76571059C>T	uc010dhp.2	-	1	206	c.81G>A	c.(79-81)tgG>tgA	p.W27*		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)			TCAGCTTGCTCCACTTGTCCG	0.562000														29			5		0	0	0.001168	0	0
DDX19B	11269	broad.mit.edu	37	16	70363946	70363946	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:70363946T>A	uc002eyo.3	+	8	1127	c.998T>A	c.(997-999)aTt>aAt	p.I333N	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Missense_Mutation_p.I307N|DDX19B_uc010vlw.2_Missense_Mutation_p.I224N|DDX19B_uc002eyp.3_Missense_Mutation_p.I302N|DDX19B_uc002eyq.3_Missense_Mutation_p.I224N|DDX19B_uc010vlx.2_Missense_Mutation_p.I182N|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	333	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCCATCACCATTGCTCAAGCC	0.577000														71			9		0	0	0.004482	0	0
TMEM204	79652	broad.mit.edu	37	16	1604801	1604801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1604801G>A	uc002cmc.2	+	3	853	c.455G>A	c.(454-456)gGg>gAg	p.G152E	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.G152E|TMEM204_uc010brr.1_Missense_Mutation_p.G152E|BC114455_uc010brs.1_5'Flank	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	152					response to stress	adherens junction|integral to membrane		p.I151I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CTGGTCATCGGGCTCGTGACT	0.582000														76			6		0	0	0.001168	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926844	130926844	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:130926844G>A	uc001uil.2	-	7	1218	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	RIMBP2_uc001uim.3_Silent_p.V242V	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	334	Fibronectin type-III 1.					cell junction|synapse		p.V334I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTCCACCAGGACGTTGTAGC	0.572000														59			16		0	0	0.006122	0	0
RNF150	57484	broad.mit.edu	37	4	141888920	141888920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:141888920G>A	uc003iio.1	-	1	1246	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	RNF150_uc010iok.1_Missense_Mutation_p.R198W|RNF150_uc003iip.1_Missense_Mutation_p.R198W	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	198						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGCAAGTTCCGGGTTCCGATG	0.463000														167			13		0	0	0.004990	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181749	47181749	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47181749C>T	uc001rpi.2	-	4	675	c.276G>A	c.(274-276)ggG>ggA	p.G92G	SLC38A4_uc001rpj.2_Silent_p.G92G|SLC38A4_uc009zkl.2_Silent_p.G92G	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	92					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGCCCAGGATCCCACTGCCCA	0.418000														44			10		0	0	0.001855	0	0
DUXA	503835	broad.mit.edu	37	19	57672125	57672125	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57672125G>A	uc002qoa.1	-	1	111	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTTCTTCTGTGAATTTTGTGC	0.338000														56			25		0	0	0.003330	0	0
SV2B	9899	broad.mit.edu	37	15	91795653	91795653	+	Silent	SNP	G	A	A	rs140898181		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91795653G>A	uc002bqv.3	+	4	1578	c.687G>A	c.(685-687)cgG>cgA	p.R229R	SV2B_uc002bqt.3_Silent_p.R229R|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.R78R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	229					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R229R(3)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTTGTCTCGGGAGAAGCGAG	0.488000														394			40		0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57326512	57326512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57326512C>T	uc002qnu.2	-	6	3649	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D1071N|PEG3_uc002qnv.2_Missense_Mutation_p.D1100N|PEG3_uc002qnw.2_Missense_Mutation_p.D976N|PEG3_uc002qnx.2_Missense_Mutation_p.D974N|PEG3_uc010etr.2_Missense_Mutation_p.D1100N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1100					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1100Y(3)|p.K1099_D1100>NY(3)|p.K1099N(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGGGTCATCCTTCTGAGGG	0.512000														64			17		0	0	0.006122	0	0
POLR1A	25885	broad.mit.edu	37	2	86292422	86292422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:86292422G>A	uc002sqs.3	-	13	2412	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	POLR1A_uc010ytb.2_Missense_Mutation_p.P44L	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	678					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCGGAAAGGGCTTCAGGAT	0.488000														62			6		0	0	0.001168	0	0
CELSR1	9620	broad.mit.edu	37	22	46765661	46765661	+	Silent	SNP	G	A	A	rs142317772		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:46765661G>A	uc003bhw.1	-	25	7800	c.7800C>T	c.(7798-7800)ccC>ccT	p.P2600P	CELSR1_uc011arc.1_Nonsense_Mutation_p.R1066*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2600					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.P2600H(3)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCAGAAGTCGGGGTTCCCGT	0.647000														56			5		0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113326250	113326250	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:113326250G>A	uc003ynu.3	-	48	7740	c.7581C>T	c.(7579-7581)tcC>tcT	p.S2527S	CSMD3_uc003yns.3_Silent_p.S1729S|CSMD3_uc003ynt.3_Silent_p.S2487S|CSMD3_uc011lhx.2_Silent_p.S2423S|CSMD3_uc003ynw.1_Silent_p.S238S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2527	CUB 14.					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						CCCCACTGAGGGAAATAAGCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				51			5		0	0	0.000602	0	0
TAGAP	117289	broad.mit.edu	37	6	159463277	159463277	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:159463277C>T	uc003qrz.3	-	5	481	c.149_splice	c.e5-1	p.E50_splice	TAGAP_uc011eft.2_5'UTR|TAGAP_uc003qsa.3_Intron|TAGAP_uc003qsb.3_Splice_Site_p.E50_splice	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	50					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCTTAACTTCTACAGCCAAG	0.448000														90			19		0	0	0.012319	0	0
BCL9	607	broad.mit.edu	37	1	147092820	147092820	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:147092820C>T	uc001epq.3	+	7	3599	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P	BCL9_uc010ozr.1_Silent_p.P879P	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	953	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATAAAGCACCCCTCACCATGG	0.547000			T	"""IGH@, IGL@"""	B-ALL									44			9		0	0	0.004482	0	0
MORC3	23515	broad.mit.edu	37	21	37717257	37717257	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:37717257T>C	uc002yvi.3	+	7	1009	c.933T>C	c.(931-933)gaT>gaC	p.D311D		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	311					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAATAAAGATCATTATGGGA	0.294000														37			5		0	0	0.001168	0	0
PHF3	23469	broad.mit.edu	37	6	64395139	64395140	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64395139_64395140CC>TT	uc003pep.1	+	2	1541_1542	c.1516_1517CC>TT	c.(1516-1518)ccg>TTg	p.P506L	PHF3_uc010kaf.1_Missense_Mutation_p.P506L|PHF3_uc003pem.2_Missense_Mutation_p.P459L|PHF3_uc010kag.1_Missense_Mutation_p.P418L|PHF3_uc010kah.1_Missense_Mutation_p.P320L|PHF3_uc003pen.2_Missense_Mutation_p.P418L|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.P506L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	506					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAGATGCTCCGAAGAAAATT	0.347000														38			4		0	0	0.004672	0	0
CCDC81	60494	broad.mit.edu	37	11	86098632	86098632	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:86098632C>T	uc001pbx.2	+	2	644	c.216C>T	c.(214-216)atC>atT	p.I72I	CCDC81_uc001pbw.2_Silent_p.I72I	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	72										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAAATTTATCTTAATCCAGA	0.363000														88			20		0	0	0.008871	0	0
EPHA2	1969	broad.mit.edu	37	1	16459981	16459981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:16459981C>T	uc001aya.2	-	9	2014	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	620	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCACCTGCTCCGATCACCTT	0.622000														32			4		0	0	0.009096	0	0
WAS	7454	broad.mit.edu	37	X	48545242	48545242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:48545242G>A	uc004dkm.4	+	6	689	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	211					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACGAGTTCACGATACCGTGGG	0.572000			"""Mis, N, F, S"""			lymphoma								16			6		0	0	0.001984	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38976641C>T	uc002oit.3	+	33	5476	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_uc002oiu.3_Silent_p.F1782F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1782	6 X approximate repeats.				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)	CCCCCTGTTTCGTGGCCGCTC	0.682000														25			4		0	0	0.009096	0	0
AMY2B	280	broad.mit.edu	37	1	104121994	104121994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:104121994G>A	uc010ouo.2	+	21	3112	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	AMY2B_uc001duq.3_Missense_Mutation_p.G470R|AMY2B_uc001dur.3_Missense_Mutation_p.G470R|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	470					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.G470*(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCATTTCTGGAGATAAAAT	0.343000														447			26		0	0	0.003271	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263938	55263938	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55263938C>T	uc002qgx.3	+	7	1030	c.993C>T	c.(991-993)atC>atT	p.I331I	KIR3DL2_uc010yfj.2_5'Flank|KIR2DL1_uc010erw.1_Intron|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.	330					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.V331M(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CAGATATCATCGTGTACACGG	0.507000														166			67		0	0	0.014410	0	0
NSUN6	221078	broad.mit.edu	37	10	18834941	18834941	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:18834941C>A	uc010qcp.1	-	10	1749	c.1331G>T	c.(1330-1332)aGa>aTa	p.R444I	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	444							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CATGTCTTCTCTTCTGGCCTC	0.448000														119			15		2.32078e-09	2.41693e-09	0.003163	1	0
ZNF99	7652	broad.mit.edu	37	19	22941498	22941498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:22941498C>T	uc021urt.1	-	3	1368	c.1213G>A	c.(1213-1215)Gct>Act	p.A405T		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				CACTTAAAAGCTTTACCACAT	0.378000														33			5		0	0	0.001168	0	0
MYH1	4619	broad.mit.edu	37	17	10399641	10399641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10399641C>T	uc002gmo.3	-	33	4976	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1628						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTTCCATTTCATTGAGGTCT	0.498000														88			11		0	0	0.008291	0	0
HTR5A	3361	broad.mit.edu	37	7	154862641	154862641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:154862641C>T	uc003wlu.1	+	0	96	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	11						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACCTCCTTTTCCCTCTCCACC	0.597000														91			14		0	0	0.003163	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713176	189713176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:189713176G>A	uc011bsk.2	-	1	924	c.536C>T	c.(535-537)cCt>cTt	p.P179L	LEPREL1_uc003fsg.3_5'UTR	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	179					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	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			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATGTGCTCAGGGTTAGCCAC	0.433000														40			4		0	0	0.000602	0	0
OR4S2	219431	broad.mit.edu	37	11	55418704	55418704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55418704G>A	uc001nhs.1	+	0	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGTTGCACTGAGATCTTCAT	0.418000														109			11		0	0	0.008291	0	0
FOSB	2354	broad.mit.edu	37	19	45976161	45976161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:45976161C>T	uc002pbx.4	+	3	1500	c.908C>T	c.(907-909)tCg>tTg	p.S303L	ERCC1_uc002pbu.2_Intron|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekd.1_3'UTR|FOSB_uc010eke.3_Missense_Mutation_p.S228L|FOSB_uc002pby.4_Missense_Mutation_p.S267L|FOSB_uc010ekf.3_Missense_Mutation_p.S264L|FOSB_uc010ekg.3_Missense_Mutation_p.S160L|FOSB_uc002pca.4_Missense_Mutation_p.S254L	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	303					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TACACTTCTTCGTTTGTCCTC	0.617000														49			20		0	0	0.012319	0	0
PTPRD	5789	broad.mit.edu	37	9	8524997	8524997	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:8524997C>G	uc003zkk.3	-	17	1350	c.607G>C	c.(607-609)Gga>Cga	p.G203R	PTPRD_uc003zkp.3_Missense_Mutation_p.G203R|PTPRD_uc003zkq.3_Missense_Mutation_p.G203R|PTPRD_uc003zkr.3_Missense_Mutation_p.G197R|PTPRD_uc003zks.3_Missense_Mutation_p.G197R|PTPRD_uc022bdj.1_Missense_Mutation_p.G200R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	203	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATATTTTCCTTGGTCAGAC	0.453000										TSP Lung(15;0.13)				119			14		0	0	0.003163	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190535	9190535	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:9190535G>A	uc003jek.2	-	10	1829	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	373	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.L373L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCATCCTGCAGATTTCTCTCG	0.577000														24			5		0	0	0.001168	0	0
AKAP13	11214	broad.mit.edu	37	15	86259039	86259039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86259039C>T	uc002blv.1	+	19	5790	c.5620C>T	c.(5620-5622)Cct>Tct	p.P1874S	AKAP13_uc002blu.1_Missense_Mutation_p.P1878S|AKAP13_uc010bnf.1_Missense_Mutation_p.P495S|AKAP13_uc002blw.1_Missense_Mutation_p.P341S|AKAP13_uc002blx.1_Missense_Mutation_p.P119S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1874					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAGGAGCGTCCTCGGTCCGC	0.532000														40			9		0	0	0.006214	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930844	133930844	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:133930844C>T	uc001lkx.4	+	1	399	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTCAAGACCGTGCTGCTGT	0.607000														74			8		0	0	0.004482	0	0
PAK2	5062	broad.mit.edu	37	3	196554117	196554117	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196554117G>T	uc003fwy.4	+	13	1723	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	467	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAATCCAGAGAAACTTTCCC	0.363000														53			6		2.0095e-06	2.08707e-06	0.001984	1	0
UGT2B7	7364	broad.mit.edu	37	4	69962779	69962779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:69962779G>A	uc003heg.4	+	0	587	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B7_uc010ihq.3_Missense_Mutation_p.E181K	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	181					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACTTTTGAAAAGCATAG	0.393000														75			9		0	0	0.004482	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401457	77401457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:77401457G>A	uc002ffc.4	-	3	1078	c.659C>T	c.(658-660)tCt>tTt	p.S220F	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	220					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G219V(1)|p.G216_G219del(1)		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						ATTCCGGCCAGAGCCGGGGTA	0.532000														36			6		0	0	0.001168	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507109	130507109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:130507109C>T	uc004bsc.3	-	6	1676	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	SH2D3C_uc010mxo.3_Missense_Mutation_p.E352K|SH2D3C_uc004bry.3_Missense_Mutation_p.E354K|SH2D3C_uc004brz.4_Missense_Mutation_p.E158K|SH2D3C_uc011mak.2_Missense_Mutation_p.E158K|SH2D3C_uc004bsb.3_Missense_Mutation_p.E444K|SH2D3C_uc004bsa.3_Missense_Mutation_p.E355K	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	512					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGGAGGTCTCAGTCGCTGCC	0.632000														105			17		0	0	0.006122	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351617	128351617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:128351617G>A	uc003kuy.3	+	5	1405	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	SLC27A6_uc003kuz.3_Missense_Mutation_p.G337R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	337					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)		TTTGGCAATTGGAAATGGCAT	0.333000														32			13		0	0	0.004007	0	0
MYH4	4622	broad.mit.edu	37	17	10363379	10363379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10363379C>T	uc002gmn.3	-	13	1417	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	436	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			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						AACATCTTCTCGTAGATGGCT	0.483000														95			10		0	0	0.008291	0	0
MMRN2	79812	broad.mit.edu	37	10	88703674	88703674	+	Silent	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:88703674A>G	uc001kea.3	-	5	994	c.867T>C	c.(865-867)ctT>ctC	p.L289L	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.L246L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	289						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						ATTTGGCACCAAGCTCCTGGA	0.612000														28			10		0	0	0.006214	0	0
FAM5C	339479	broad.mit.edu	37	1	190067291	190067291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:190067291G>A	uc001gse.1	-	7	2390	c.2158C>T	c.(2158-2160)Cgt>Tgt	p.R720C	FAM5C_uc010pot.1_Missense_Mutation_p.R618C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	720						extracellular region		p.R719C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGATCTAGACGACGCTGACCA	0.478000														59			14		0	0	0.004007	0	0
KIAA0408	9729	broad.mit.edu	37	6	127775078	127775078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:127775078C>T	uc011ebs.2	-	1	385	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	KIAA0408_uc003qbc.3_Missense_Mutation_p.E17K|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_5'Flank	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	17							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCCATCTTTTCCTTATGCCAG	0.403000														87			10		0	0	0.006214	0	0
JAM2	58494	broad.mit.edu	37	21	27071133	27071133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:27071133G>A	uc002ylp.1	+	4	1084	c.539G>A	c.(538-540)aGa>aAa	p.R180K	JAM2_uc011ace.1_Missense_Mutation_p.R180K|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R144K	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	180	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAAAATCCCAGACTTGGCTCC	0.423000														30			5		0	0	0.001168	0	0
PHF1	5252	broad.mit.edu	37	6	33383017	33383017	+	Silent	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33383017A>G	uc003oeh.3	+	12	1481	c.1245A>G	c.(1243-1245)tcA>tcG	p.S415S	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Intron|PHF1_uc010jux.3_Silent_p.S215S	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	415					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTAGGCCTCAGTGTCTCCAC	0.607000														108			7		0	0	0.004482	0	0
FAM116B	414918	broad.mit.edu	37	22	50754507	50754507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:50754507G>A	uc011arv.1	-	7	721	c.649C>T	c.(649-651)Cca>Tca	p.P217S		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	217										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCTGGATGGGATGCGCACC	0.632000														82			15		0	0	0.004007	0	0
ITGAE	3682	broad.mit.edu	37	17	3662736	3662736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:3662736C>T	uc002fwo.4	-	7	925	c.826G>A	c.(826-828)Ggg>Agg	p.G276R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	276	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTGACACTCCCCACTTGAGTG	0.557000														54			6		0	0	0.003080	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464086	145464086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:145464086G>A	uc003lnv.3	-	3	515	c.443C>T	c.(442-444)tCc>tTc	p.S148F	PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA.	148										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCAGATGGAAAAAGCCCA	0.517000														50			5		0	0	0.000602	0	0
KEL	3792	broad.mit.edu	37	7	142651411	142651411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142651411C>T	uc003wcb.3	-	7	994	c.784G>A	c.(784-786)Gga>Aga	p.G262R		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	262					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGTCTCCTCCCAGCAAGGTT	0.542000														65			9		0	0	0.006214	0	0
LRRC52	440699	broad.mit.edu	37	1	165532895	165532895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:165532895G>A	uc001gde.2	+	1	832	c.776G>A	c.(775-777)gGa>gAa	p.G259E	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	259						integral to membrane		p.A258S(1)|p.A258T(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCGCCGCGGGAACTGTGGCT	0.592000														34			5		0	0	0.001984	0	0
PDK1	5163	broad.mit.edu	37	2	173451030	173451030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:173451030C>T	uc002uhs.3	+	8	1070	c.970C>T	c.(970-972)Cct>Tct	p.P324S	PDK1_uc010zdz.1_Missense_Mutation_p.P169S|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.P344S|PDK1_uc010zeb.2_Missense_Mutation_p.P344S	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	324	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.P324S(2)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGGTGGCGTTCCTTTGAGGAA	0.443000									Autosomal Dominant Polycystic Kidney Disease					28			7		0	0	0.003080	0	0
PLG	5340	broad.mit.edu	37	6	161127561	161127561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:161127561G>A	uc003qtm.4	+	1	284	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	PLG_uc021zhr.1_Missense_Mutation_p.E58K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	58	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAGGACGAAGAATTCACCTG	0.423000														57			14		0	0	0.002450	0	0
DNAH9	1770	broad.mit.edu	37	17	11666774	11666774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11666774C>T	uc002gne.3	+	35	7081	c.7013C>T	c.(7012-7014)cCc>cTc	p.P2338L	DNAH9_uc010coo.3_Missense_Mutation_p.P1632L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2338					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCATTCCCATCCCAGAG	0.498000														95			11		0	0	0.001855	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260921	1260921	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:1260921C>T	uc002cks.3	+	20	4421	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	CACNA1H_uc002ckt.3_Silent_p.I1391I|CACNA1H_uc002cku.3_Silent_p.I97I|CACNA1H_uc010brj.3_Silent_p.I97I|CACNA1H_uc002ckv.3_Silent_p.I97I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1391					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGCCAAGATCCTGGGTGTTC	0.682000														150			8		0	0	0.010729	0	0
TG	7038	broad.mit.edu	37	8	133981775	133981775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:133981775G>A	uc003ytw.3	+	31	5977	c.5936G>A	c.(5935-5937)aGa>aAa	p.R1979K	TG_uc010mdw.3_Missense_Mutation_p.R738K|TG_uc011ljb.2_Missense_Mutation_p.R348K|TG_uc011ljc.2_Missense_Mutation_p.R133K	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1979			R -> W (polymorphism associated with AITD3).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATATCCATTAGAAATAAAGTG	0.348000														124			7		0	0	0.001984	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536824	37536824	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:37536824G>A	uc002xje.3	+	9	1371	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	PPP1R16B_uc010ggc.3_Silent_p.E352E	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	394					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGACCAAGAGAATAAGGACC	0.602000														22			4		0	0	0.009096	0	0
SEMA7A	8482	broad.mit.edu	37	15	74709735	74709735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:74709735G>A	uc002axv.3	-	5	642	c.602C>T	c.(601-603)cCt>cTt	p.P201L	SEMA7A_uc010ulk.2_Missense_Mutation_p.P36L|SEMA7A_uc010ull.2_Missense_Mutation_p.P187L	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	201	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCGGAACCGAGGGATCTTCCC	0.602000														61			14		0	0	0.001855	0	0
OR6N1	128372	broad.mit.edu	37	1	158736211	158736211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158736211C>T	uc010piq.2	-	0	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E88D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTCTTTTTCTCACTGAGCAAG	0.488000														53			14		0	0	0.002450	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853598	12853598	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12853598T>G	uc001auj.2	+	1	325	c.222T>G	c.(220-222)caT>caG	p.H74Q		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	74										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	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;0.00812)|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)		AGACGCTTCATTTGGAGACCT	0.557000														106			8		0	0	0.013537	0	0
ZBED2	79413	broad.mit.edu	37	3	111312451	111312451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:111312451C>T	uc003dxy.3	-	1	1499	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E200K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	200							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TGGCATGCCTCCTTCTCAGCC	0.522000														35			4		0	0	0.009096	0	0
CHD7	55636	broad.mit.edu	37	8	61765994	61765994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:61765994C>T	uc003xue.3	+	30	7202	c.6710C>T	c.(6709-6711)tCc>tTc	p.S2237F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2237	Glu-rich.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.S2237S(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGAAAGGTTCCGAAGAGGAT	0.522000														35			6		0	0	0.004482	0	0
ACADL	33	broad.mit.edu	37	2	211082805	211082805	+	Silent	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:211082805T>A	uc002vdz.4	-	2	483	c.255A>T	c.(253-255)gtA>gtT	p.V85V	ACADL_uc010zjg.1_Silent_p.V85V	NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	85					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)		CCTCCCTACTTACTTCTCCAG	0.368000														25			6		0	0	0.001168	0	0
C1orf129	80133	broad.mit.edu	37	1	170961428	170961428	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:170961428G>A	uc010plz.2	+	11	1306	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	C1orf129_uc001ghg.3_Silent_p.G384G|C1orf129_uc009wvy.3_Silent_p.G191G	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	384							binding	p.E383K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAACGGAAGGGAAACGTTTCT	0.458000														82			6		0	0	0.001168	0	0
NPAS1	4861	broad.mit.edu	37	19	47543709	47543709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47543709G>A	uc002pfw.3	+	8	1166	c.970G>A	c.(970-972)Gac>Aac	p.D324N	NPAS1_uc002pfy.3_Missense_Mutation_p.D324N|NPAS1_uc010xyj.2_Missense_Mutation_p.D148N	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	324	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CAGAGTCAGCGACCACATGGA	0.652000														5			3		0	0	0.004672	0	0
PKHD1	5314	broad.mit.edu	37	6	51907788	51907788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:51907788G>A	uc003pah.1	-	26	3242	c.2966C>T	c.(2965-2967)cCt>cTt	p.P989L	PKHD1_uc003pai.3_Missense_Mutation_p.P989L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	989	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATTCCAACAGGTAGCAAATC	0.453000														38			4		0	0	0.000602	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307707	88307707	+	Silent	SNP	G	A	A	rs142829279		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:88307707G>A	uc011lte.2	-	1	277	c.210C>T	c.(208-210)atC>atT	p.I70I	AGTPBP1_uc011ltd.2_Silent_p.I18I|AGTPBP1_uc010mqc.3_Silent_p.I18I	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	18					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGAGTCCTACGATCCTAGAAT	0.383000														34			4		0	0	0.000602	0	0
ABL2	27	broad.mit.edu	37	1	179078467	179078468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179078467_179078468GG>AA	uc001gmj.4	-	11	2221_2222	c.1934_1935CC>TT	c.(1933-1935)acc>aTT	p.T645I	ABL2_uc010pnf.2_Missense_Mutation_p.T645I|ABL2_uc010png.2_Missense_Mutation_p.T624I|ABL2_uc010pnh.2_Missense_Mutation_p.T624I|ABL2_uc001gmg.4_Missense_Mutation_p.T630I|ABL2_uc001gmi.4_Missense_Mutation_p.T630I|ABL2_uc010pne.2_Missense_Mutation_p.T609I	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	645					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTATCCCTGGTGAAGCATGT	0.540000			T	ETV6	AML									130			16		0	0	0.004672	0	0
ZAN	7455	broad.mit.edu	37	7	100361455	100361455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100361455C>T	uc003uwj.3	+	20	4178	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	ZAN_uc003uwk.3_Missense_Mutation_p.S1338F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1338	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGTGAATTCCCCGTCTTGT	0.557000														109			16		0	0	0.006122	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138647	126138647	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:126138647G>A	uc001uhe.1	+	8	2636	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	TMEM132B_uc001uhf.1_Silent_p.G388G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	876						integral to membrane		p.Q875*(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCACTCAAGGGAAGTCACCGG	0.512000														30			6		0	0	0.001168	0	0
PROM2	150696	broad.mit.edu	37	2	95943131	95943131	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:95943131C>T	uc002suk.3	+	6	925	c.792C>T	c.(790-792)caC>caT	p.H264H	PROM2_uc002suh.2_Silent_p.H264H|PROM2_uc002sui.3_Silent_p.H264H|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	264						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCTCCGTGCACCACCTGCAAA	0.642000														31			5		0	0	0.000602	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644244	37644244	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:37644244A>T	uc002ofo.1	-	4	788	c.557T>A	c.(556-558)tTt>tAt	p.F186Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.F131Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.F131Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTGCATTTAAAGGGTTTCTC	0.403000														45			11		0	0	0.001855	0	0
SARDH	1757	broad.mit.edu	37	9	136596581	136596581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:136596581G>A	uc004cep.4	-	3	670	c.536C>T	c.(535-537)tCc>tTc	p.S179F	SARDH_uc004ceo.3_Missense_Mutation_p.S179F|SARDH_uc011mdo.2_Missense_Mutation_p.S11F|SARDH_uc011mdn.2_Missense_Mutation_p.S179F	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	179					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCACATGGGATTCCACACC	0.627000														30			6		0	0	0.003080	0	0
CWH43	80157	broad.mit.edu	37	4	48994092	48994092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:48994092G>A	uc003gyv.3	+	3	678	c.496G>A	c.(496-498)Gat>Aat	p.D166N	CWH43_uc011bzl.2_Missense_Mutation_p.D139N	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	166					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGCCACACTTGATCGTATTGG	0.373000														29			10		0	0	0.008291	0	0
KIAA0913	23053	broad.mit.edu	37	10	75550009	75550009	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75550009G>C	uc001jvj.3	+	6	1155	c.900G>C	c.(898-900)aaG>aaC	p.K300N	KIAA0913_uc001jve.3_Missense_Mutation_p.K300N|KIAA0913_uc009xrl.3_Missense_Mutation_p.K300N|KIAA0913_uc001jvf.3_Missense_Mutation_p.K300N|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	300							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					ACATCAAAAAGACACTGCACA	0.552000														89			10		0	0	0.006214	0	0
UMODL1	89766	broad.mit.edu	37	21	43504230	43504230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:43504230G>A	uc002zag.1	+	2	356	c.356G>A	c.(355-357)gGg>gAg	p.G119E	UMODL1_uc002zad.1_Missense_Mutation_p.G47E|UMODL1_uc002zae.1_Missense_Mutation_p.G47E|UMODL1_uc002zaf.1_Missense_Mutation_p.G119E|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	119	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAAGACCTGGGGCCTGCCCC	0.577000														109			13		0	0	0.002450	0	0
STXBP2	6813	broad.mit.edu	37	19	7703652	7703652	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:7703652G>A	uc010xjr.2	+	1	123	c.78G>A	c.(76-78)ggG>ggA	p.G26G	STXBP2_uc002mha.4_Silent_p.G26G|STXBP2_uc002mhb.4_Silent_p.G26G|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	26					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGAAGGATGGGGAGTGGAAGG	0.582000														51			8		0	0	0.004482	0	0
CLCNKA	1187	broad.mit.edu	37	1	16373114	16373114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:16373114C>T	uc001axx.4	+	3	450	c.314C>T	c.(313-315)tCt>tTt	p.S105F	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	105					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.S105F(2)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCCCTCGTCTCTTTCTCTTCA	0.602000														32			8		0	0	0.004482	0	0
LRFN1	57622	broad.mit.edu	37	19	39804579	39804579	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:39804579G>A	uc002okw.2	-	0	1398	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	466	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACCTGTAGACGAGGGAGTCAT	0.632000														16			7		0	0	0.004482	0	0
IGFBP7	3490	broad.mit.edu	37	4	57898610	57898610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57898610C>T	uc003hcn.3	-	3	845	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	IGFBP7_uc011cag.2_Missense_Mutation_p.E271K	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	271					cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGGTATTTCATGTAAGGCA	0.363000														47			6		0	0	0.001168	0	0
C5orf42	65250	broad.mit.edu	37	5	37183083	37183083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:37183083G>A	uc011cpa.1	-	25	5431	c.5200C>T	c.(5200-5202)Cct>Tct	p.P1734S	C5orf42_uc011coy.1_Missense_Mutation_p.P235S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P809S|C5orf42_uc011cpb.1_Missense_Mutation_p.P615S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1734										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGTGCTAAAGGAAGATCTTCT	0.373000														57			9		0	0	0.008291	0	0
PAPPA2	60676	broad.mit.edu	37	1	176758951	176758951	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176758951C>T	uc001gkz.3	+	17	5886	c.4722C>T	c.(4720-4722)ctC>ctT	p.L1574L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1574	Sushi 3.				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						TCAGCAAGCTCCTGAAGATAC	0.428000														9			8		0	0	0.003080	0	0
QSER1	79832	broad.mit.edu	37	11	32953291	32953291	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:32953291A>G	uc001mty.3	+	3	367	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	QSER1_uc001mtz.1_Missense_Mutation_p.M34V|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	34										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCATAGGCATGCATTCCTC	0.403000														53			10		0	0	0.010729	0	0
RRP9	9136	broad.mit.edu	37	3	51968490	51968490	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51968490G>A	uc003dbw.1	-	12	1297	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	420					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCACTCACCAGGGGGATGTCA	0.582000														14			3		0	0	0.000602	0	0
ADORA2A	135	broad.mit.edu	37	22	24836822	24836822	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:24836822C>T	uc002zzx.3	+	4	1367	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.L202L|ADORA2A_uc011ajs.2_Silent_p.L63L|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.L202L|ADORA2A_uc010gup.3_Silent_p.L202L|ADORA2A_uc003aab.3_Silent_p.L202L|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	202					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCGGATCTTCCTGGCGGCGCG	0.592000														164			14		0	0	0.004007	0	0
TCTN1	79600	broad.mit.edu	37	12	111085020	111085020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111085020C>T	uc001trn.4	+	12	1670	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	TCTN1_uc009zvs.3_Missense_Mutation_p.S500F|TCTN1_uc001trm.3_Missense_Mutation_p.S396F|TCTN1_uc001trp.4_Missense_Mutation_p.S486F|TCTN1_uc001trj.2_Missense_Mutation_p.S444F|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	500					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTGCAGGATTCCTGCCAGCTC	0.388000														42			6		0	0	0.004482	0	0
GNAQ	2776	broad.mit.edu	37	9	80430643	80430643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:80430643G>A	uc004akw.3	-	2	433	c.365C>T	c.(364-366)tCt>tTt	p.S122F	GNAQ_uc011lso.2_5'UTR	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	122					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCAAAAGCAGACACCTTCTC	0.353000			Mis		uveal melanoma									35			6		0	0	0.001984	0	0
OR4C15	81309	broad.mit.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55322305C>T	uc010rig.2	+	0	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507000										HNSCC(20;0.049)				71			10		0	0	0.013537	0	0
DUSP27	92235	broad.mit.edu	37	1	167095239	167095239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:167095239G>A	uc001geb.1	+	4	887	c.871G>A	c.(871-873)Gga>Aga	p.G291R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	291					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCGGGAGGGGGGATCAGCTGA	0.637000														26			4		0	0	0.000602	0	0
SDF4	51150	broad.mit.edu	37	1	1164002	1164002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:1164002G>A	uc001adh.4	-	1	501	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	SDF4_uc001adi.4_Missense_Mutation_p.P58S|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	58					UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGTCTGGGGGCAGGATCTCA	0.617000														39			8		0	0	0.004482	0	0
VHL	7428	broad.mit.edu	37	3	10188288	10188288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:10188288G>A	uc003bvc.3	+	1	644	c.431G>A	c.(430-432)gGa>gAa	p.G144E	VHL_uc003bvd.3_Intron	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	144	Involved in binding to CCT complex.				anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G144fs*15(8)|p.G144fs*14(6)|p.G144*(3)|p.D143E(2)|p.G144fs*29(2)|p.G144A(2)|p.D143fs*29(2)|p.D143fs*16(2)|p.G144fs*19(2)|p.G144R(1)|p.S139fs*12(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATGTTGACGGACAGCCTATT	0.423000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					107			11		0	0	0.010729	0	0
ZFP112	7771	broad.mit.edu	37	19	44891169	44891169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:44891169G>A	uc010xxa.2	-	3	1302	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S413F	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TTGAAGAACGGAGCTTGAACT	0.493000														34			9		0	0	0.008291	0	0
LPAL2	80350	broad.mit.edu	37	6	160906919	160906919	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160906919C>T	uc003qtj.2	-	4		c.778G>A			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAAGTGCTTCCTGTGACGGT	0.453000														176			19		0	0	0.006122	0	0
ZNF658	26149	broad.mit.edu	37	9	40774080	40774080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:40774080G>A	uc004abs.2	-	4	1347	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	ZNF658_uc010mmm.2_Missense_Mutation_p.L399F|ZNF658_uc010mmn.1_Missense_Mutation_p.L399F	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGCTGAATGAGGTGTGCTTTC	0.403000														174			17		0	0	0.006122	0	0
ZNF24	7572	broad.mit.edu	37	18	32920427	32920427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:32920427G>A	uc002kyt.2	-	1	345	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF24_uc002kys.2_Missense_Mutation_p.S63L|ZNF24_uc002kyu.1_Missense_Mutation_p.S63L	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	63	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GGGCCCAGGTGAATCCTGGTA	0.552000														59			12		0	0	0.013537	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123308024	123308024	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:123308024G>A	uc004bkf.3	-	4	532	c.351C>T	c.(349-351)ctC>ctT	p.L117L	CDK5RAP2_uc004bkg.3_Silent_p.L117L|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.L117L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	117					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCTCTCCTGGAGTTCCCGCT	0.443000														86			18		0	0	0.004990	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474698	140474698	+	Silent	SNP	C	T	T	rs11956826		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140474698C>T	uc003lil.3	+	0	462	c.324C>T	c.(322-324)ttC>ttT	p.F108F	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	108	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTACCTTTCCAGGTGTTAC	0.473000														40			7		0	0	0.001984	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171773190	171773190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:171773190G>A	uc003mbr.3	-	11	1309	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	380	SH3 3.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGGTTGTCTGGAATTCGGCG	0.577000														77			27		0	0	0.008361	0	0
GDF10	2662	broad.mit.edu	37	10	48428707	48428707	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48428707C>T	uc001jfb.3	-	1	1607	c.1179G>A	c.(1177-1179)tgG>tgA	p.W393*	GDF10_uc009xnp.3_Nonsense_Mutation_p.W392*|GDF10_uc009xnq.2_Nonsense_Mutation_p.W393*	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	393					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GTGAGATTATCCATTCATTCC	0.532000														39			5		0	0	0.001984	0	0
PNN	5411	broad.mit.edu	37	14	39650383	39650383	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:39650383C>T	uc001wuw.4	+	8	1567	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	490	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aatcccagtcccaaccAGTAC	0.517000														50			6		0	0	0.001984	0	0
PDZD2	23037	broad.mit.edu	37	5	32090662	32090662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32090662G>A	uc003jhl.3	+	19	7496	c.7108G>A	c.(7108-7110)Ggg>Agg	p.G2370R	PDZD2_uc003jhm.3_Missense_Mutation_p.G2370R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2370					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				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						GCCTCCCATTGGGAGGCGGTC	0.592000														14			15		0	0	0.002450	0	0
MTMR12	54545	broad.mit.edu	37	5	32248166	32248166	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32248166G>A	uc003jhq.3	-	9	1133	c.963C>T	c.(961-963)ttC>ttT	p.F321F	MTMR12_uc010iuk.3_Silent_p.F321F|MTMR12_uc010iul.3_Silent_p.F321F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	321	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCAGGGACAGGAAGTTGCTTG	0.383000														64			8		0	0	0.003080	0	0
TAAR2	9287	broad.mit.edu	37	6	132939276	132939276	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:132939276G>A	uc003qdl.1	-	1	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F	TAAR2_uc010kfr.1_5'Flank	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	23						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAGAGCAATTGAATTTTTCCT	0.323000														35			8		0	0	0.008291	0	0
DOCK10	55619	broad.mit.edu	37	2	225657756	225657756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:225657756G>A	uc010fwz.1	-	46	5485	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F	DOCK10_uc002vob.2_Missense_Mutation_p.S1743F|DOCK10_uc002voa.2_Missense_Mutation_p.S405F|DOCK10_uc002voc.2_Intron	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1749	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGAGAGCAGGGATGCTGTGCA	0.438000														145			31		0	0	0.004289	0	0
MYH7	4625	broad.mit.edu	37	14	23899822	23899822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23899822C>T	uc001wjx.3	-	10	1052	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	316	Myosin head-like.				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)		GTGGTCTCTCCTTGGGAGATG	0.562000														32			6		0	0	0.003080	0	0
MAOB	4129	broad.mit.edu	37	X	43698125	43698125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:43698125G>A	uc004dfz.4	-	2	444	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	MAOB_uc011mkx.2_Missense_Mutation_p.H74Y|MAOB_uc011mky.2_Missense_Mutation_p.H74Y|MAOB_uc010nhj.3_Missense_Mutation_p.H90Y	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	90					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TTTACATGGTGGATCAGACGC	0.423000														35			12		0	0	0.013537	0	0
WNK1	65125	broad.mit.edu	37	12	989990	989990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:989990C>T	uc021qss.1	+	11	4359	c.3716C>T	c.(3715-3717)cCc>cTc	p.P1239L	WNK1_uc001qio.4_Missense_Mutation_p.P979L|WNK1_uc021qst.1_Intron|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	979					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTATCCCCTCCCATGCCGACA	0.502000														224			16		0	0	0.007413	0	0
NDST4	64579	broad.mit.edu	37	4	115767065	115767065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:115767065G>A	uc003ibu.3	-	9	2708	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	677	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A676S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCTCGTCTTGGAGCTTCTTCC	0.458000														53			19		0	0	0.008871	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652431	234652431	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234652431C>T	uc002vuz.3	-	0	231	c.132G>A	c.(130-132)agG>agA	p.R44R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	44	J.				protein folding		heat shock protein binding|unfolded protein binding										GCTTGAATCTCCTCTCCGCTT	0.627000														152			16		0	0	0.004990	0	0
OR10C1	442194	broad.mit.edu	37	6	29408542	29408542	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29408542C>T	uc011dlp.2	+	0	827	c.750C>T	c.(748-750)ttC>ttT	p.F250F	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	250					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						TCTCCCTCTTCTATGGCACCG	0.587000														221			21		0	0	0.003330	0	0
OR10J5	127385	broad.mit.edu	37	1	159504990	159504990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159504990C>T	uc010piw.2	-	0	808	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D270E(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGAACAAGGTCTTTTTCTATT	0.483000														42			5		0	0	0.001168	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433423	140433423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140433423G>A	uc003lik.1	+	0	2445	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	790					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAAAAATGGAGGCTGGCTC	0.453000														69			25		0	0	0.003954	0	0
IFIH1	64135	broad.mit.edu	37	2	163124040	163124040	+	Silent	SNP	C	T	T	rs77041372		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:163124040C>T	uc002uce.3	-	14	3069	c.2847G>A	c.(2845-2847)aaG>aaA	p.K949K		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	949					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CGGCACACTTCTTTTGCAGTG	0.383000														41			5		0	0	0.001168	0	0
PDGFC	56034	broad.mit.edu	37	4	157771463	157771463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:157771463C>T	uc003iph.2	-	1	715	c.224G>A	c.(223-225)tGg>tAg	p.W75*	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	75	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACTAATCTCCATACCAAGAC	0.388000														47			5		0	0	0.000602	0	0
FAM154B	283726	broad.mit.edu	37	15	82575038	82575038	+	Missense_Mutation	SNP	C	T	T	rs149603065		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:82575038C>T	uc002bgv.3	+	2	901	c.832C>T	c.(832-834)Cct>Tct	p.P278S	FAM154B_uc010unr.2_Missense_Mutation_p.P263S|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	278								p.P278S(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TAACAATTTTCCTTTCCAAGG	0.418000														52			11		0	0	0.010729	0	0
MIER2	54531	broad.mit.edu	37	19	313599	313599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:313599G>A	uc002lok.1	-	7	709	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	234	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCCCTCTCAGGGAGGACGCTG	0.617000														50			11		0	0	0.010729	0	0
SOX6	55553	broad.mit.edu	37	11	16340164	16340164	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:16340164G>A	uc001mme.3	-	2	345	c.312C>T	c.(310-312)tcC>tcT	p.S104S	SOX6_uc001mmd.3_Silent_p.S94S|SOX6_uc001mmf.3_Silent_p.S91S|SOX6_uc001mmg.3_Silent_p.S91S|SOX6_uc001mmh.1_Non-coding_Transcript|SOX6_uc009ygs.2_Non-coding_Transcript|SOX6_uc001mmi.3_Silent_p.S91S|SOX6_uc001mmj.3_Silent_p.S91S	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	91					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.E104D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TATTTCGGAAGGAATATAGGG	0.393000														74			8		0	0	0.004482	0	0
CDH7	1005	broad.mit.edu	37	18	63477230	63477230	+	Silent	SNP	C	T	T	rs140800301		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:63477230C>T	uc002lkb.3	+	2	927	c.501C>T	c.(499-501)ccC>ccT	p.P167P	CDH7_uc002ljz.3_Silent_p.P167P|CDH7_uc002lka.3_Silent_p.P167P	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	167	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAATGTCTCCCGTGGGTAAGT	0.393000														101			6		0	0	0.001168	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92694235	92694235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:92694235C>T	uc002bqx.2	+	8	1945	c.1744C>T	c.(1744-1746)Cgt>Tgt	p.R582C	SLCO3A1_uc002bqy.2_Missense_Mutation_p.R582C|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R524C	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	582					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCTCCTCCTTCGTTTGTTGGG	0.373000														44			5		0	0	0.000602	0	0
ADARB1	104	broad.mit.edu	37	21	46624512	46624512	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:46624512C>T	uc002zgy.2	+	9	2163	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Silent_p.F536F|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Silent_p.F536F|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Silent_p.F576F|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	576	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCAGCATTTTCGTGGAGCCCA	0.582000														45			19		0	0	0.012319	0	0
PTGIS	5740	broad.mit.edu	37	20	48130782	48130782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:48130782C>T	uc002xut.3	-	6	1060	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	PTGIS_uc010zyi.2_Missense_Mutation_p.D197N	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	336					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|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTGTGCTGTCTAGAACCTTC	0.587000														50			5		0	0	0.000602	0	0
ZNF483	158399	broad.mit.edu	37	9	114296571	114296571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:114296571C>T	uc004bff.2	+	4	883	c.659C>T	c.(658-660)tCc>tTc	p.S220F	ZNF483_uc011lwq.2_Missense_Mutation_p.S220F|ZNF483_uc004bfg.2_Missense_Mutation_p.S220F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	220	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAGTTGATTTCCCAGCTAAAG	0.383000														87			12		0	0	0.003163	0	0
EGFR	1956	broad.mit.edu	37	7	55249165	55249165	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:55249165C>T	uc003tqk.3	+	19	2709	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	EGFR_uc022adm.1_Silent_p.I821I|EGFR_uc010kzg.2_Silent_p.I776I|EGFR_uc022adn.1_Silent_p.I776I|EGFR_uc011kco.2_Silent_p.I768I|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Silent_p.I56I	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	821	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.I821T(2)|p.Q820R(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)	GTGTGCAGATCGCAAAGGTAA	0.557000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				52			14		0	0	0.002450	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696930	128696930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:128696930C>T	uc003elj.4	-	4	962	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KIAA1257_uc003elg.1_Missense_Mutation_p.G256R|KIAA1257_uc003eli.4_Missense_Mutation_p.G144R	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	256										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTTGTTTTCCTGGCGGATGT	0.448000														50			5		0	0	0.000602	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702212	8702212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8702212C>T	uc002glp.2	-	0	456	c.227G>A	c.(226-228)aGg>aAg	p.R76K		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	76						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AAGCGCTCTCCTTTTCCGGTA	0.622000														39			7		0	0	0.001984	0	0
KCNB1	3745	broad.mit.edu	37	20	47990999	47990999	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47990999G>A	uc002xur.1	-	1	1264	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	KCNB1_uc002xus.1_Silent_p.A366A	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	366					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCAGAAAGAGGCTGGGATGC	0.507000														57			5		0	0	0.000602	0	0
ROBO4	54538	broad.mit.edu	37	11	124767092	124767092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:124767092G>A	uc001qbg.3	-	1	276	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ROBO4_uc010sas.2_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	46	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGGCCAGGGCCCTGGAAC	0.667000														13			3		0	0	0.004672	0	0
FCAR	2204	broad.mit.edu	37	19	55399440	55399440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55399440C>T	uc002qhr.1	+	3	625	c.428C>T	c.(427-429)tCc>tTc	p.S143F	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.S143F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.S116F|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.S143F|FCAR_uc002qhw.1_Missense_Mutation_p.S131F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.S131F|FCAR_uc002qhz.1_Missense_Mutation_p.S131F|FCAR_uc002qia.1_Missense_Mutation_p.S34F	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	143	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GAGAATATTTCCCTCACGTGC	0.507000														32			13		0	0	0.003163	0	0
VWA3B	200403	broad.mit.edu	37	2	98736213	98736213	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:98736213T>C	uc002syo.3	+	3	793	c.529T>C	c.(529-531)Ttc>Ctc	p.F177L	VWA3B_uc010yvh.2_Intron|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.F177L|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	177										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATAACCGAGTTCAATATCAT	0.448000														82			7		0	0	0.003080	0	0
BICC1	80114	broad.mit.edu	37	10	60380643	60380643	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:60380643G>A	uc001jki.1	+	1	219	c.219G>A	c.(217-219)ggG>ggA	p.G73G		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	73					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						GCAGAAGTGGGGAAGACTTTT	0.363000														45			4		0	0	0.000602	0	0
RASD2	23551	broad.mit.edu	37	22	35947550	35947550	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:35947550G>A	uc003anx.3	+	3	477	c.272_splice	c.e3-1	p.G91_splice	RASD2_uc003any.3_Splice_Site_p.G91_splice	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	91					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CTCCCTGCAGGGGATGTCTTC	0.587000														107			8		0	0	0.004482	0	0
ZNF607	84775	broad.mit.edu	37	19	38190382	38190382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:38190382C>T	uc002ohc.2	-	4	1246	c.650G>A	c.(649-651)aGa>aAa	p.R217K	ZNF607_uc002ohb.2_Missense_Mutation_p.R216K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATAATGAAATCTATGATGTAC	0.423000														48			8		0	0	0.003080	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032513	43032513	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:43032513T>C	uc003gwt.3	+	3	830	c.829T>C	c.(829-831)Tgc>Cgc	p.C277R		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	277					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTGTACGGCTTGCAATGAAAA	0.438000														116			12		0	0	0.010729	0	0
LUM	4060	broad.mit.edu	37	12	91497959	91497959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:91497959C>T	uc001tbm.3	-	2	1389	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	334					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGAGTGACTTCGTTAGCAACA	0.348000														39			8		0	0	0.006214	0	0
FNDC1	84624	broad.mit.edu	37	6	159682253	159682253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:159682253C>T	uc010kjv.3	+	18	5406	c.5206C>T	c.(5206-5208)Cat>Tat	p.H1736Y		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1736	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACAAAATCCTCATGGCTACGG	0.358000														58			9		0	0	0.008291	0	0
UBE2V2	7336	broad.mit.edu	37	8	48955640	48955640	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:48955640G>T	uc003xqm.3	+	1	84	c.64G>T	c.(64-66)Gga>Tga	p.G22*		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 2 (UBE2V2), mRNA.	22					DNA double-strand break processing|cell proliferation|protein polyubiquitination|regulation of DNA repair	UBC13-MMS2 complex|cytoplasm|nucleus	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACTTGAAGAAGGACAAAAAGG	0.403000								Rad6 pathway						82			6		5.18039e-06	5.37492e-06	0.003080	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800528	185800528	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:185800528C>T	uc002uph.3	+	3	999	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	135						intracellular	zinc ion binding	p.G134D(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAGTGGCCCCATGTTCAAAT	0.333000														30			4		0	0	0.000602	0	0
MYOCD	93649	broad.mit.edu	37	17	12647610	12647610	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12647610G>A	uc002gno.2	+	7	1127	c.828G>A	c.(826-828)gaG>gaA	p.E276E	MYOCD_uc002gnn.2_Silent_p.E276E|MYOCD_uc002gnp.1_Silent_p.E180E|MYOCD_uc002gnq.2_5'UTR	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	276					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)		AGAAGGCAGAGAAGTCCCCTC	0.557000														31			4		0	0	0.000602	0	0
RASSF6	166824	broad.mit.edu	37	4	74453617	74453617	+	Missense_Mutation	SNP	G	A	A	rs142555062		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:74453617G>A	uc003hhd.1	-	4	541	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	RASSF6_uc003hhc.1_Missense_Mutation_p.R108C|RASSF6_uc010iik.1_Missense_Mutation_p.R108C|RASSF6_uc010iil.1_Missense_Mutation_p.R96C	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	140					apoptosis|signal transduction		protein binding	p.R140C(2)|p.R140H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCACTAATACGATAGAGATCG	0.383000														55			5		0	0	0.003080	0	0
ICA1	3382	broad.mit.edu	37	7	8198255	8198255	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:8198255T>A	uc003sro.4	-	6	743	c.607A>T	c.(607-609)Aaa>Taa	p.K203*	ICA1_uc010ktr.3_Nonsense_Mutation_p.K203*|ICA1_uc003srm.3_Nonsense_Mutation_p.K203*|ICA1_uc003srn.4_Nonsense_Mutation_p.K129*|ICA1_uc003srq.3_Nonsense_Mutation_p.K203*|ICA1_uc003srr.3_Nonsense_Mutation_p.K202*|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Nonsense_Mutation_p.K203*	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	203	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAAAGTTTTTTTTTGCAAGG	0.388000														37			5		0	0	0.000602	0	0
HPSE2	60495	broad.mit.edu	37	10	100249954	100249954	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:100249954C>T	uc001kpn.2	-	10	1394	c.1321_splice	c.e10-1	p.D441_splice	HPSE2_uc009xwc.2_Splice_Site_p.D441_splice|HPSE2_uc001kpo.2_Splice_Site_p.D383_splice|HPSE2_uc009xwd.2_Splice_Site_p.D329_splice	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	441					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCAGTAGTCCTGAGGAGAAT	0.577000														50			8		0	0	0.010729	0	0
SYT10	341359	broad.mit.edu	37	12	33592367	33592367	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:33592367A>T	uc001rll.1	-	0	388	c.91T>A	c.(91-93)Tgg>Agg	p.W31R	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	31						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CACTTCTCCCACTCCACCTGG	0.642000														115			6		0	0	0.001168	0	0
TBC1D5	9779	broad.mit.edu	37	3	17425431	17425431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:17425431C>T	uc010hev.3	-	9	850	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	TBC1D5_uc003cbf.3_Missense_Mutation_p.E196K|TBC1D5_uc003cbe.3_Missense_Mutation_p.E196K|TBC1D5_uc010hew.1_Missense_Mutation_p.E148K	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	196	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TGCTCGTTTTCTCTGGCATAA	0.333000														53			11		0	0	0.010729	0	0
ZNF746	155061	broad.mit.edu	37	7	149174079	149174079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:149174079G>A	uc010lpi.2	-	5	1043	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ZNF746_uc003wfw.2_Missense_Mutation_p.P258S	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	258					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGATGGTGGGGAGGGAGATCC	0.622000														57			6		0	0	0.001168	0	0
ZNF470	388566	broad.mit.edu	37	19	57086037	57086037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:57086037C>T	uc002qnl.4	+	4	894	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ZNF470_uc010etn.3_Non-coding_Transcript	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S73F(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GATGTGATCTCCTTACTGGAG	0.413000														22			15		0	0	0.004990	0	0
ATP7B	540	broad.mit.edu	37	13	52524464	52524464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52524464G>A	uc001vfw.2	-	9	2676	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L	ATP7B_uc001vfy.2_Missense_Mutation_p.P729L|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.P678L|ATP7B_uc010tgt.1_Missense_Mutation_p.P840L|ATP7B_uc010tgu.1_Missense_Mutation_p.P792L|ATP7B_uc010tgv.1_Missense_Mutation_p.P762L|ATP7B_uc001vfv.2_Missense_Mutation_p.P112L|ATP7B_uc010tgs.1_Missense_Mutation_p.P112L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	840			P -> L (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCATCCACTGGAAACTTTCC	0.532000									Wilson disease					33			10		0	0	0.006214	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190486	72190486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:72190486C>T	uc001xms.3	+	15	4755	c.4394C>T	c.(4393-4395)tCc>tTc	p.S1465F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1444F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1444F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1465F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S919F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1465	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		tcctcttcctcctcctcctcT	0.552000														65			6		0	0	0.001168	0	0
COL4A1	1282	broad.mit.edu	37	13	110864929	110864929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:110864929C>T	uc001vqw.4	-	4	438	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	106					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)			ACGGGAAGTCCTGGGTTTCCA	0.493000														60			7		0	0	0.003080	0	0
CYLC1	1538	broad.mit.edu	37	X	83126513	83126513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:83126513C>T	uc004eei.1	+	2	133	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	CYLC1_uc004eeh.1_Missense_Mutation_p.P37S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	38					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTTGACATTTCCCAAACCACT	0.299000														14			4		0	0	0.000602	0	0
OR10K1	391109	broad.mit.edu	37	1	158436071	158436071	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158436071C>T	uc010pij.2	+	0	720	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	240					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)					CCTTCTCCACCTGTGCCTCCC	0.453000														72			7		0	0	0.003080	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40282489	40282489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:40282489G>A	uc001zkm.1	+	15	2592	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	EIF2AK4_uc010bbj.1_Missense_Mutation_p.D549N|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	848	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GATTCACCGGGATTTGAAGCC	0.378000														138			8		0	0	0.006214	0	0
CHSY1	22856	broad.mit.edu	37	15	101718347	101718347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:101718347C>T	uc021sxt.1	-	2	2131	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	CHSY1_uc010usd.2_Missense_Mutation_p.G280E	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	552					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAAAGTTTCCCATAAATCT	0.433000														38			7		0	0	0.003080	0	0
MYOCD	93649	broad.mit.edu	37	17	12656434	12656434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:12656434G>A	uc002gno.2	+	9	2128	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	MYOCD_uc002gnn.2_Missense_Mutation_p.G610E|MYOCD_uc002gnp.1_Missense_Mutation_p.G514E|MYOCD_uc002gnq.2_Missense_Mutation_p.G329E	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	610					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	p.G610R(1)		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)		CAGCCTCTTGGAAATGCTCAT	0.522000														92			8		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858592	9858592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:9858592C>T	uc010uym.2	-	13	3119	c.2809G>A	c.(2809-2811)Gat>Aat	p.D937N	GRIN2A_uc002czo.4_Missense_Mutation_p.D937N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D780N|GRIN2A_uc002czr.4_Missense_Mutation_p.D937N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	937					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|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCCCTTATCTGAAACCATG	0.453000														116			16		0	0	0.004990	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336381	115336381	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:115336381C>T	uc011lwx.1	+	1	196	c.21C>T	c.(19-21)acC>acT	p.T7T	KIAA1958_uc004bgf.1_Silent_p.T7T	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	7										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTCTTCATACCTCATCTGAGA	0.433000														44			10		0	0	0.008291	0	0
ITGBL1	9358	broad.mit.edu	37	13	102366796	102366796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:102366796C>T	uc001vpb.3	+	9	1507	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	ITGBL1_uc010agb.3_Missense_Mutation_p.H381Y|ITGBL1_uc001vpc.4_Missense_Mutation_p.H289Y	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	430	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGTTCTTGTCATTGTGGGAA	0.413000														100			15		0	0	0.006122	0	0
NEK5	341676	broad.mit.edu	37	13	52676350	52676350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52676350G>A	uc001vge.3	-	9	828	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	230	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGAGCTCACGAGAAAACCCC	0.418000														145			19		0	0	0.012319	0	0
PUF60	22827	broad.mit.edu	37	8	144900174	144900174	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144900174G>A	uc003yzs.3	-	7	739	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Silent_p.F182F|PUF60_uc003yzr.3_Silent_p.F165F|PUF60_uc003yzt.3_Silent_p.F208F|PUF60_uc003yzu.1_Silent_p.F214F	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	225	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGATGCGGTTGAAGGCCCGTG	0.592000														20			7		0	0	0.003080	0	0
ABCA13	154664	broad.mit.edu	37	7	48349707	48349707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:48349707G>A	uc003toq.2	+	23	9509	c.9485G>A	c.(9484-9486)cGa>cAa	p.R3162Q	ABCA13_uc010kys.1_Missense_Mutation_p.R236Q|ABCA13_uc003tos.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3162					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCTGAGTCGAAACTTGGAT	0.507000														203			31		0	0	0.004878	0	0
AGRN	375790	broad.mit.edu	37	1	983033	983033	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:983033C>T	uc001ack.2	+	20	3647	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1199	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCAAATCCGTCCGCGCCA	0.617000														39			4		0	0	0.001168	0	0
CIT	11113	broad.mit.edu	37	12	120241180	120241180	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:120241180G>A	uc001txj.2	-	9	1181	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Silent_p.F375F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	375	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTGGGAACGAAGGGGGGAG	0.502000														66			7		0	0	0.001984	0	0
ROR1	4919	broad.mit.edu	37	1	64474976	64474976	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:64474976G>A	uc001dbj.2	+	2	491	c.92_splice	c.e2-1	p.E31_splice	ROR1_uc001dbi.4_Splice_Site_p.E31_splice	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	31					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTTCTTTTCAGAAACAGAGCT	0.438000														166			9		0	0	0.004482	0	0
MYOM2	9172	broad.mit.edu	37	8	2021482	2021482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:2021482C>T	uc003wpx.4	+	9	1160	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	341	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCTCCCTGTCCTTCAGCCAC	0.567000														56			7		0	0	0.004482	0	0
PEX1	5189	broad.mit.edu	37	7	92147277	92147277	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:92147277G>A	uc003uly.3	-	4	648	c.552C>T	c.(550-552)gcC>gcT	p.A184A	PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Silent_p.A184A|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	184					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTCTCTTTGGCTCGGCGTG	0.393000														52			10		0	0	0.006214	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626859	108626859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:108626859G>A	uc002tdv.3	+	8	1561	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	SLC5A7_uc010ywm.2_Missense_Mutation_p.G182R|SLC5A7_uc010fjj.3_Missense_Mutation_p.G429R|SLC5A7_uc010ywn.2_Missense_Mutation_p.G316R	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	429					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTTTGTTAAGGGAACCAACAC	0.488000														41			7		0	0	0.001984	0	0
ABCB4	5244	broad.mit.edu	37	7	87101970	87101970	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:87101970C>T	uc003uiv.1	-	2	178	c.102G>A	c.(100-102)acG>acA	p.T34T	ABCB4_uc003uiw.1_Silent_p.T34T|ABCB4_uc003uix.1_Silent_p.T34T|ABCB4_uc003uiy.3_Silent_p.T34T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	34					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCACTGTCTTCGTTTTTTTCC	0.249000														50			8		0	0	0.003080	0	0
MYH6	4624	broad.mit.edu	37	14	23855235	23855235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23855235C>T	uc001wjv.3	-	33	5136	c.5065G>A	c.(5065-5067)Gag>Aag	p.E1689K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1689					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)		GCACGCAGCTCCTCCAGCTCA	0.647000														30			10		0	0	0.008291	0	0
FAM153B	202134	broad.mit.edu	37	5	175528581	175528581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175528581G>A	uc003mdk.3	+	11	718	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	221								p.E221K(2)|p.E221*(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CACACTGGCCGAACGTACGTA	0.463000														59			11		0	0	0.002450	0	0
OR10X1	128367	broad.mit.edu	37	1	158549373	158549373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158549373C>T	uc010pin.2	-	0	317	c.317G>A	c.(316-318)aGa>aAa	p.R106K		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAAATGCTTCTGTCCTTGGC	0.478000														67			7		0	0	0.001984	0	0
TNIK	23043	broad.mit.edu	37	3	170912416	170912416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:170912416C>T	uc003fhh.2	-	4	660	c.315G>A	c.(313-315)atG>atA	p.M105I	TNIK_uc003fhi.2_Missense_Mutation_p.M105I|TNIK_uc003fhj.2_Missense_Mutation_p.M105I|TNIK_uc003fhk.2_Missense_Mutation_p.M105I|TNIK_uc003fhl.2_Missense_Mutation_p.M105I|TNIK_uc003fhm.2_Missense_Mutation_p.M105I|TNIK_uc003fhn.2_Missense_Mutation_p.M105I|TNIK_uc003fho.2_Missense_Mutation_p.M105I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	105	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACAAAACTCCATCACCAACT	0.438000														81			9		0	0	0.006214	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301246	110301246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:110301246C>T	uc001dyr.2	-	6	726	c.501G>A	c.(499-501)tgG>tgA	p.W167*	EPS8L3_uc001dys.2_Nonsense_Mutation_p.W167*|EPS8L3_uc001dyq.2_Nonsense_Mutation_p.W168*|EPS8L3_uc009wfm.2_Nonsense_Mutation_p.W134*|EPS8L3_uc009wfn.2_Nonsense_Mutation_p.W134*|EPS8L3_uc009wfo.2_Nonsense_Mutation_p.W114*	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	167						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CAGGCCCCCTCCATCTGTCCT	0.617000														38			9		0	0	0.006214	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468481	72468481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:72468481C>T	uc001jrg.3	+	3	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R273C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V272L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCGGTGGTTCGCTTCCATGG	0.617000														64			12		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9072101	9072101	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9072101C>T	uc002mkp.3	-	2	15549	c.15345G>A	c.(15343-15345)aaG>aaA	p.K5115K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5117	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						GAAAAATTTCCTTTGTGTCTT	0.443000														56			13		0	0	0.013537	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652291	20652291	+	Silent	SNP	C	T	T	rs143680068	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:20652291C>T	uc001mqd.3	+	9	1827	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SLC6A5_uc009yic.3_Silent_p.F283F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	518					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCGGCTTCGTCATCTTCT	0.493000														74			17		0	0	0.010504	0	0
FLG2	388698	broad.mit.edu	37	1	152323257	152323257	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152323257C>T	uc001ezw.4	-	2	7078	c.7005G>A	c.(7003-7005)agG>agA	p.R2335R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2335							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)			CATGCCTTTGCCTTTCACTAC	0.473000														186			19		0	0	0.008871	0	0
PRB3	5544	broad.mit.edu	37	12	11420937	11420937	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11420937G>A	uc001qzs.3	-	2	284	c.246C>T	c.(244-246)ccC>ccT	p.P82P	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	82	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTCCTTGTGGGGGTGGTCCTT	0.627000														206			41		0	0	0.014410	0	0
GRB7	2886	broad.mit.edu	37	17	37902204	37902204	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:37902204T>C	uc002hsr.3	+	12	1584	c.1309T>C	c.(1309-1311)Tcc>Ccc	p.S437P	GRB7_uc002hss.3_Missense_Mutation_p.S437P|GRB7_uc021twu.1_Missense_Mutation_p.S460P|GRB7_uc010cwc.3_Missense_Mutation_p.S437P|GRB7_uc002hst.3_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	437	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGCGCATTTCCCGTGAGGA	0.627000														100			11		0	0	0.003163	0	0
ZBBX	79740	broad.mit.edu	37	3	167045777	167045777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:167045777C>T	uc011bpc.2	-	10	1152	c.815G>A	c.(814-816)gGa>gAa	p.G272E	ZBBX_uc003feq.3_Missense_Mutation_p.G243E|ZBBX_uc003fep.3_Missense_Mutation_p.G272E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	272						intracellular	zinc ion binding	p.T271T(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATCATGATTTCCGGTTCTCCA	0.383000														65			12		0	0	0.002450	0	0
CA6	765	broad.mit.edu	37	1	9034706	9034706	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:9034706G>A	uc001apm.3	+	7	894	c.870G>A	c.(868-870)caG>caA	p.Q290Q	CA6_uc009vmn.3_Silent_p.Q230Q	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	290					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTCCAGTTTTACCTAC	0.388000														18			5		0	0	0.003080	0	0
PLCL2	23228	broad.mit.edu	37	3	17052006	17052006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:17052006C>T	uc011awc.2	+	2	1240	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.P264S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	390					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						CAAATATGAACCATCCAAAGA	0.398000														42			8		0	0	0.004482	0	0
ETV4	2118	broad.mit.edu	37	17	41610701	41610701	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:41610701G>A	uc002idw.3	-	6	527	c.399C>T	c.(397-399)ccC>ccT	p.P133P	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Intron|ETV4_uc010czh.3_Silent_p.P132P|ETV4_uc010wii.2_Silent_p.P94P|ETV4_uc002idx.3_Silent_p.P133P|ETV4_uc010wij.2_Silent_p.P94P|ETV4_uc002idy.1_Silent_p.P94P	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	133					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CGATTTGTCTGGGGGGGTCAT	0.577000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									31			4		0	0	0.000602	0	0
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:101536359G>A	uc004ayu.3	-	8	1642	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_uc004ayv.2_Nonsense_Mutation_p.R3*|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Nonsense_Mutation_p.R240*	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	541								p.R541Q(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557000														24			4		0	0	0.009096	0	0
DAO	1610	broad.mit.edu	37	12	109292540	109292540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:109292540G>A	uc001tnr.4	+	8	1452	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	DAO_uc001tnq.4_Missense_Mutation_p.E195K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	261					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CACCATTTGGGAAGGCTGCTG	0.502000														35			6		0	0	0.001168	0	0
SAMD7	344658	broad.mit.edu	37	3	169644351	169644351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:169644351G>A	uc003fgd.3	+	5	568	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SAMD7_uc003fge.3_Missense_Mutation_p.E101K|SAMD7_uc011bpo.2_Missense_Mutation_p.E2K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	101								p.E101K(2)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACAGAAATGGAAATGTATGC	0.388000														26			5		0	0	0.000602	0	0
MXRA5	25878	broad.mit.edu	37	X	3241047	3241047	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:3241047C>T	uc004crg.4	-	4	2836	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	893						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)				CCTCAGTCTTCTCGGAAAGGT	0.478000														52			9		0	0	0.004482	0	0
ATP12A	479	broad.mit.edu	37	13	25281459	25281459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25281459C>T	uc010aaa.3	+	16	2732	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	ATP12A_uc001upp.3_Missense_Mutation_p.S794F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	794					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATTGCTTATTCCCTGACCAAG	0.512000														113			10		0	0	0.008291	0	0
ACE	1636	broad.mit.edu	37	17	61557816	61557816	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61557816C>T	uc002jau.2	+	4	808	c.774C>T	c.(772-774)gtC>gtT	p.V258V	ACE_uc010wpi.2_Silent_p.V258V|ACE_uc010ddu.2_Silent_p.V75V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	258	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGCCTTCGTCCGCCGCGCAC	0.602000														58			8		0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79369304	79369304	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:79369304G>A	uc003hlb.2	+	43	6548	c.6108G>A	c.(6106-6108)ggG>ggA	p.G2036G		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2035					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTAGCTGGGCTGGTTGGGT	0.542000														45			5		0	0	0.001168	0	0
CARD6	84674	broad.mit.edu	37	5	40853853	40853853	+	Missense_Mutation	SNP	C	T	T	rs34452222		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:40853853C>T	uc003jmg.3	+	2	2494	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	807					apoptosis|regulation of apoptosis	intracellular		p.R807L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGAGTTGCTCGGGGATGTCA	0.473000														248			17		0	0	0.010504	0	0
OR4C11	219429	broad.mit.edu	37	11	55371656	55371656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:55371656G>A	uc010rii.2	-	0	219	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATCTGCAAAGGACAAATAAAA	0.403000														62			17		0	0	0.006122	0	0
GPR112	139378	broad.mit.edu	37	X	135427103	135427103	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:135427103C>G	uc004ezu.1	+	5	1529	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	GPR112_uc010nsb.1_Missense_Mutation_p.S208C|GPR112_uc010nsc.1_Missense_Mutation_p.S180C	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	413					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)					ACATCTATGTCTACAACACCT	0.408000														41			7		0	0	0.001984	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170246	32170246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:32170246C>T	uc003obb.3	-	20	3501	c.3362G>A	c.(3361-3363)gGg>gAg	p.G1121E	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.	1121	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						GTCAGGACCCCCATAGCCACT	0.657000														274			34		0	0	0.003271	0	0
CACNA1C	775	broad.mit.edu	37	12	2706436	2706436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:2706436C>T	uc009zdu.1	+	20	3147	c.2834C>T	c.(2833-2835)aCc>aTc	p.T945I	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkd.2_Missense_Mutation_p.T945I|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Missense_Mutation_p.T945I|CACNA1C_uc001qkg.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkh.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkl.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkj.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkk.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Missense_Mutation_p.T945I|CACNA1C_uc001qko.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.T945I|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Missense_Mutation_p.T945I|CACNA1C_uc001qkt.2_Missense_Mutation_p.T945I|CACNA1C_uc009zdv.1_Missense_Mutation_p.T942I|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.T681I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	945					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCATTTTCACCATTGAAATT	0.498000														128			9		0	0	0.006214	0	0
MPDU1	9526	broad.mit.edu	37	17	7487252	7487253	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:7487252_7487253CC>TT	uc002ghx.3	+	0	288_289	c.72_73CC>TT	c.(70-75)gaccaa>gaTTaa	p.Q25*	MPDU1_uc010vub.2_5'UTR|MPDU1_uc002ghw.3_Nonsense_Mutation_p.Q25*|MPDU1_uc010vuc.1_Nonsense_Mutation_p.Q25*			O75352	MPU1_HUMAN	Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA.	25					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AATGCTACGACCAACTTTTCGT	0.535000														112			19		0	0	0.004672	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315303	154315303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:154315303C>T	uc001fex.3	+	14	1418	c.1418C>T	c.(1417-1419)cCt>cTt	p.P473L		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	459					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTTCAATCCTCTGGCTGAC	0.547000														76			16		0	0	0.004007	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808829	18808829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:18808829G>A	uc001bax.3	+	0	1406	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E234K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	452						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)		GGCCCTGAAAGAGGCGGCCTA	0.632000														81			5		0	0	0.000602	0	0
COL1A1	1277	broad.mit.edu	37	17	48271742	48271742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48271742G>A	uc002iqm.3	-	22	1708	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	528	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCGGGACGACCAGCTTCA	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							53			11		0	0	0.008291	0	0
EIF3H	8667	broad.mit.edu	37	8	117768029	117768029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:117768029G>A	uc003yob.3	-	2	817	c.50C>T	c.(49-51)tCc>tTc	p.S17F	EIF3H_uc003yoa.3_Missense_Mutation_p.S3F|EIF3H_uc011lhz.1_Missense_Mutation_p.S3F	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	3					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TTCCTTGCGGGACGCCATCTT	0.607000														19			6		0	0	0.001984	0	0
ZNF750	79755	broad.mit.edu	37	17	80789372	80789372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:80789372C>T	uc002kga.3	-	1	1270	c.959G>A	c.(958-960)gGa>gAa	p.G320E	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	320						intracellular	zinc ion binding	p.G320E(2)|p.G320*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGTAAAATCCGTAAGGAAT	0.542000														183			16		0	0	0.004990	0	0
IRS4	8471	broad.mit.edu	37	X	107978024	107978024	+	Silent	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:107978024C>G	uc004eoc.2	-	0	1584	c.1551G>C	c.(1549-1551)tcG>tcC	p.S517S		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	517						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGTTTCCTCCCGAGCTATGGC	0.597000														59			18		0	0	0.010504	0	0
PDXDC1	23042	broad.mit.edu	37	16	15120520	15120520	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:15120520C>T	uc002dda.4	+	13	1385	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	PDXDC1_uc010uzl.2_Silent_p.S372S|PDXDC1_uc010uzm.2_Silent_p.S296S|PDXDC1_uc002dcz.3_Silent_p.S364S|PDXDC1_uc002ddb.4_Silent_p.S360S|PDXDC1_uc010uzn.2_Silent_p.S359S|PDXDC1_uc002ddc.3_Silent_p.S387S	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	387					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCTCAGCTCCCCAGTGGTGG	0.403000														100			6		0	0	0.001168	0	0
FAM123C	205147	broad.mit.edu	37	2	131520837	131520837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:131520837G>A	uc021voy.1	+	0	1192	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	FAM123C_uc002trw.2_Missense_Mutation_p.D398N|FAM123C_uc010fmv.2_Missense_Mutation_p.D398N|FAM123C_uc010fms.1_Missense_Mutation_p.D398N|FAM123C_uc010fmt.1_Missense_Mutation_p.D398N|FAM123C_uc010fmu.1_Missense_Mutation_p.D398N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	398										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		ACTTGAGGAGGACAAGAAGGA	0.617000														29			6		0	0	0.001168	0	0
HVCN1	84329	broad.mit.edu	37	12	111099116	111099116	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:111099116C>T	uc001trs.1	-	3	324	c.159G>A	c.(157-159)gaG>gaA	p.E53E	HVCN1_uc001trq.1_Silent_p.E53E|HVCN1_uc001trt.1_Silent_p.E53E|HVCN1_uc010syd.1_Silent_p.E33E	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	53	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCTGctcctcctcctcctcct	0.612000														28			4		0	0	0.009096	0	0
GALNTL4	374378	broad.mit.edu	37	11	11314705	11314705	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:11314705C>T	uc001mjo.2	-	9	1969	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	516	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V516V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TCAGAATGCCCACATGGATCT	0.582000														23			6		0	0	0.001168	0	0
RPE65	6121	broad.mit.edu	37	1	68910347	68910347	+	Missense_Mutation	SNP	G	A	A	rs121918844		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:68910347G>A	uc001dei.1	-	4	416	c.362C>T	c.(361-363)tCt>tTt	p.S121F		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	121					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCGAAAGTAAGAAAAAAACCT	0.368000														31			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179585867	179585867	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179585867G>A	uc021vsy.1	-	75	19372	c.19147C>T	c.(19147-19149)Caa>Taa	p.Q6383*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q3044*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7310	Ig-like 45.						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)			CATTCCAGTTGAATGGATTCT	0.358000														29			13		0	0	0.013537	0	0
AMICA1	120425	broad.mit.edu	37	11	118083240	118083241	+	Missense_Mutation	DNP	GG	AA	AA	rs150593418		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:118083240_118083241GG>AA	uc001psk.2	-	2	253_254	c.79_80CC>TT	c.(79-81)ccg>TTg	p.P27L	AMICA1_uc001psh.2_5'UTR|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.P17L|AMICA1_uc010rxw.1_5'UTR|AMICA1_uc010rxx.1_Missense_Mutation_p.P27L|AMICA1_uc001psl.1_Intron	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	27	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		TAGCTCAGGCGGGGAAACATTC	0.406000														25			5		0	0	0.004672	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175331865C>T	uc001gkp.1	-	11	2869	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_uc009wwu.1_Missense_Mutation_p.E930K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(4)|p.Y929Y(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000														89			6		0	0	0.001168	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94685905	94685905	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:94685905G>A	uc001dqj.4	-	2	618	c.249C>T	c.(247-249)ctC>ctT	p.L83L	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.L83L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	83					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.L83L(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTAAAACACGGAGCAGTTCCT	0.313000														38			11		0	0	0.008291	0	0
FAM98B	283742	broad.mit.edu	37	15	38757492	38757492	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:38757492C>T	uc001zkc.3	+	2	275	c.240C>T	c.(238-240)ttC>ttT	p.F80F	FAM98B_uc001zkb.1_Silent_p.F80F	NM_173611	NP_775882	Q52LJ0	FA98B_HUMAN	Homo sapiens family with sequence similarity 98, member B (FAM98B), transcript variant 1, mRNA.	80						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TAGAGAGCTTCCAGCTTGAGA	0.303000														41			5		0	0	0.000602	0	0
SETDB1	9869	broad.mit.edu	37	1	150913808	150913808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150913808C>T	uc001evu.2	+	4	641	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	SETDB1_uc001evw.4_Missense_Mutation_p.R151C|SETDB1_uc009wmf.2_Missense_Mutation_p.R151C|SETDB1_uc001evv.2_Missense_Mutation_p.R151C|SETDB1_uc009wmg.2_Missense_Mutation_p.R151C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTACAGCTCCGTGAAGCTAT	0.388000														18			4		0	0	0.009096	0	0
CFH	3075	broad.mit.edu	37	1	196694341	196694341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196694341C>T	uc001gtj.4	+	11	2027	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	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.	596	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						TTGAAATTCTCCTGCAAACCA	0.393000														39			19		0	0	0.010504	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055929	92055929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:92055929G>A	uc001xzs.1	-	23	3045	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S	CATSPERB_uc010aub.1_Missense_Mutation_p.P491S	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	969					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACCAGATATGGAGATTGCAAT	0.363000														49			7		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	107210977	107210977	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107210977C>T	uc021ser.1	-	15		c.1397G>A								Parts of antibodies, mostly variable regions.																		TCAGGCTGTTCATTTGCAGAT	0.532000														53			6		0	0	0.001984	0	0
RASSF9	9182	broad.mit.edu	37	12	86198920	86198920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:86198920C>T	uc001taf.1	-	1	1207	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	290					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTTTACCTCTTTTTCTATT	0.393000														107			16		0	0	0.003163	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180751	142180751	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142180751C>T	uc011krz.2	-	1	157	c.108G>A	c.(106-108)caG>caA	p.Q36Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.Q36Q|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GTGTCATGCTCTGTCCTGTCT	0.517000														168			16		0	0	0.004990	0	0
CDC5L	988	broad.mit.edu	37	6	44387332	44387332	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:44387332C>T	uc003oxl.3	+	8	1549	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	413	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.P412L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACTCCATTCAGGTATTGTA	0.368000														60			7		0	0	0.001984	0	0
MLKL	197259	broad.mit.edu	37	16	74729605	74729605	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:74729605C>T	uc002fdb.2	-	1	492	c.51G>A	c.(49-51)cgG>cgA	p.R17R	MLKL_uc002fdc.2_Silent_p.R17R	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	17							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCTTCACACCGTTTGTGGA	0.498000														35			4		0	0	0.009096	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478748	85478748	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:85478748C>T	uc002blg.3	+	15	1783	c.1581_splice	c.e15+1	p.S527_splice	SLC28A1_uc010bnb.3_Splice_Site_p.S527_splice|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Splice_Site_p.S527_splice|SLC28A1_uc010upg.1_Splice_Site_p.S527_splice	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	527					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGTGGATCTCCGTGAGTGTC	0.642000														89			8		0	0	0.004482	0	0
DGKA	1606	broad.mit.edu	37	12	56346939	56346939	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:56346939C>T	uc001sij.3	+	21	2322	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	DGKA_uc001sik.3_Silent_p.T686T|DGKA_uc001sil.3_Silent_p.T686T|DGKA_uc001sim.3_Silent_p.T686T|DGKA_uc001sin.3_Silent_p.T686T|DGKA_uc009zof.3_Silent_p.T332T|DGKA_uc001sio.3_Silent_p.T428T	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	686					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTGAGATCACCTTCCAGTAAG	0.567000														53			5		0	0	0.000602	0	0
SOGA3	387104	broad.mit.edu	37	6	127797475	127797475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:127797475C>T	uc003qbd.3	-	5	2561	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	566						integral to membrane											CTGTCCAGATCCCCATAAAAG	0.502000														61			5		0	0	0.000602	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474611	140474611	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140474611C>T	uc003lil.3	+	0	375	c.237C>T	c.(235-237)ttC>ttT	p.F79F	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	79	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGCAGTTCGATAGGCAGA	0.507000														62			18		0	0	0.010504	0	0
COL3A1	1281	broad.mit.edu	37	2	189859818	189859818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:189859818G>A	uc002uqj.1	+	20	1619	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	501	Triple-helical region.		G -> R (in EDS4).		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)	GGCATCCCAGGAGAAAAGGTA	0.388000														50			5		0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38753813	38753813	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38753813A>C	uc003ciq.3	-	21	3928	c.3928T>G	c.(3928-3930)Tgc>Ggc	p.C1310G		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1310					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)	TAGTTGATGCACCTCCAAAAC	0.478000														63			6		0	0	0.001984	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883760	74883761	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74883760_74883761GG>AA	uc002sna.1	+	1	356_357	c.245_246GG>AA	c.(244-246)cgg>cAA	p.R82Q	SEMA4F_uc010ysb.1_Missense_Mutation_p.R82Q|SEMA4F_uc021vjn.1_Missense_Mutation_p.R82Q|SEMA4F_uc010ffq.1_Missense_Mutation_p.R82Q|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.R82Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	82	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.R82R(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTTGGCGCCCGGGACACCATCT	0.559000														57			5		0	0	0.004672	0	0
PCP4	5121	broad.mit.edu	37	21	41300986	41300986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:41300986C>T	uc002yyp.3	+	2	220	c.139C>T	c.(139-141)Cag>Tag	p.Q47*		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	47	IQ.				central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				GGTGGCCATTCAGTCTCAGTT	0.458000														29			6		0	0	0.001168	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302075	179302075	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:179302075G>A	uc003mlh.3	-	11	2048	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	TBC1D9B_uc003mli.3_Silent_p.F671F|TBC1D9B_uc003mlj.3_Silent_p.F671F|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	671	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)			AGAGGGTCAGGAACCAGGACA	0.587000														40			5		0	0	0.001168	0	0
C5orf25	375484	broad.mit.edu	37	5	175740750	175740750	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175740750A>T	uc003mds.4	+	6	2141	c.1734A>T	c.(1732-1734)gaA>gaT	p.E578D	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.E163D|C5orf25_uc003mdv.3_Missense_Mutation_p.E39D			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	578												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	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;0.000178)	Kidney(146;0.119)		AGACCCTAGAAGATGACTTTC	0.507000														139			22		0	0	0.014323	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748266	8748267	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:8748266_8748267GG>AA	uc003wsj.1	-	0	2865_2866	c.2302_2303CC>TT	c.(2302-2304)ccg>TTg	p.P768L		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	768										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CGCCATGGGCGGGGAGCTTTCC	0.614000														31			4		0	0	0.004672	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061145	15061145	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15061145G>A	uc002naa.1	-	8	1564	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	SLC1A6_uc010dzu.1_Silent_p.I441I|SLC1A6_uc010xod.1_Silent_p.I455I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	519					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)	ACAAGTGCTCGATGACGGCCG	0.582000														39			6		0	0	0.001168	0	0
IQCH	64799	broad.mit.edu	37	15	67713790	67713790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:67713790G>A	uc002aqo.2	+	15	2477	c.2380G>A	c.(2380-2382)Gtg>Atg	p.V794M	IQCH_uc002aqp.2_Missense_Mutation_p.V455M|IQCH_uc002aqq.2_Missense_Mutation_p.V451M|LOC100506686_uc002aqr.2_Non-coding_Transcript|LOC100506686_uc021spf.1_Non-coding_Transcript	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	794								p.S793L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCAGACCTCAGTGGATCCCCA	0.493000														53			6		0	0	0.001984	0	0
EPPK1	83481	broad.mit.edu	37	8	144941146	144941146	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144941146G>A	uc003zaa.1	-	0	6289	c.6276C>T	c.(6274-6276)tcC>tcT	p.S2092S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2092						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATGTGCTCGGAGTCCCGTG	0.597000														104			10		0	0	0.008291	0	0
ZNF498	221785	broad.mit.edu	37	7	99217342	99217342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99217342C>T	uc003url.1	+	3	440	c.113C>T	c.(112-114)cCa>cTa	p.P38L	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.P38L|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GACCCTAGTCCAGAGACTTTT	0.587000														173			11		0	0	0.001855	0	0
WDR72	256764	broad.mit.edu	37	15	53889321	53889321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:53889321C>T	uc002acj.2	-	17	3145	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1035										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTAGTTCTTCTGTCCATTCC	0.393000														135			16		0	0	0.004990	0	0
PTPN3	5774	broad.mit.edu	37	9	112185014	112185014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:112185014G>A	uc004bed.2	-	12	1232	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	PTPN3_uc004beb.2_Missense_Mutation_p.P243S|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.P87S|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	374					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAGTAATGGGAGGGGAACGA	0.413000														61			9		0	0	0.008291	0	0
DPCR1	135656	broad.mit.edu	37	6	30920802	30920802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:30920802G>A	uc003nsg.2	+	2	4090	c.4090G>A	c.(4090-4092)Gat>Aat	p.D1364N		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	488						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCAGTACAATGATGCAGAGGA	0.537000														24			5		0	0	0.000602	0	0
DNAH11	8701	broad.mit.edu	37	7	21695476	21695476	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:21695476C>T	uc003svc.3	+	28	5017	c.4986C>T	c.(4984-4986)ttC>ttT	p.F1662F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1662	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAAACTTTTCGACAGCATTG	0.383000									Kartagener syndrome					29			4		0	0	0.009096	0	0
DECR1	1666	broad.mit.edu	37	8	91031361	91031361	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:91031361C>G	uc003yek.1	+	3	519	c.378C>G	c.(376-378)aaC>aaG	p.N126K	DECR1_uc011lgc.1_Missense_Mutation_p.N117K|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	126					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGTTCAAAACACTGTGTCAG	0.393000														38			6		0	0	0.001984	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318178	30318178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:30318178G>A	uc009xle.2	-	2	1036	c.899C>T	c.(898-900)tCg>tTg	p.S300L	KIAA1462_uc001iux.3_Missense_Mutation_p.S300L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.S162L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	300	Pro-rich.							p.S300S(1)		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						CTGCTGGTGCGAGCTGTAAGA	0.592000														42			4		0	0	0.009096	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45110520	45110520	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:45110520C>T	uc003bfd.3	+	1	461	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	PRR5-ARHGAP8_uc003bew.2_Nonsense_Mutation_p.Q53*|PRR5-ARHGAP8_uc003bex.2_5'UTR|PRR5-ARHGAP8_uc010gzt.1_Nonsense_Mutation_p.Q85*|PRR5-ARHGAP8_uc003bey.1_Nonsense_Mutation_p.Q53*|PRR5-ARHGAP8_uc003bez.1_5'UTR|PRR5-ARHGAP8_uc011aqi.2_Nonsense_Mutation_p.Q53*|PRR5-ARHGAP8_uc003bfb.2_Nonsense_Mutation_p.Q62*	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCTGCCCGACCAGGAGCTCTT	0.647000														77			6		0	0	0.001984	0	0
OR5C1	392391	broad.mit.edu	37	9	125551761	125551761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125551761G>A	uc011lzd.2	+	0	550	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTTCTTCTGCGATATCCCTCC	0.562000														25			4		0	0	0.009096	0	0
COPZ1	22818	broad.mit.edu	37	12	54743418	54743418	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54743418C>T	uc001sfs.1	+	7	499	c.462C>T	c.(460-462)ccC>ccT	p.P154P	COPZ1_uc001sft.2_Silent_p.P103P|COPZ1_uc009znm.1_Silent_p.P162P|COPZ1_uc010sot.1_Silent_p.P131P	NM_016057	NP_057141	P61923	COPZ1_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA.	154					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						AAGATGTCCCCCTTACGGAGC	0.478000														228			32		0	0	0.005524	0	0
BRWD3	254065	broad.mit.edu	37	X	79932599	79932599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:79932599G>A	uc004edt.3	-	40	5181	c.4918C>T	c.(4918-4920)Cat>Tat	p.H1640Y	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.H1469Y|BRWD3_uc004edq.3_Missense_Mutation_p.H1236Y|BRWD3_uc010nmj.2_Missense_Mutation_p.H1236Y|BRWD3_uc004edr.3_Missense_Mutation_p.H1310Y|BRWD3_uc004eds.3_Missense_Mutation_p.H1236Y|BRWD3_uc004edo.3_Missense_Mutation_p.H1236Y|BRWD3_uc004edu.3_Missense_Mutation_p.H1310Y|BRWD3_uc004edv.3_Missense_Mutation_p.H1236Y|BRWD3_uc004edw.3_Missense_Mutation_p.H1236Y|BRWD3_uc004edx.3_Missense_Mutation_p.H1236Y|BRWD3_uc004edy.3_Missense_Mutation_p.H1236Y|BRWD3_uc004edz.3_Missense_Mutation_p.H1310Y|BRWD3_uc004eea.3_Missense_Mutation_p.H1310Y|BRWD3_uc004eeb.3_Missense_Mutation_p.H1236Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1640										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTATAATCATGGTCTCCATCT	0.403000														59			20		0	0	0.014323	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075357	140075357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140075357G>A	uc004clr.1	-	7	1566	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	ANAPC2_uc004clq.1_Missense_Mutation_p.S354L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	498					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R497H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATGTCCGATGAACGCCGCTT	0.647000														62			6		0	0	0.003080	0	0
KLHL7	55975	broad.mit.edu	37	7	23183560	23183560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:23183560C>T	uc003svs.4	+	5	1002	c.709C>T	c.(709-711)Ctt>Ttt	p.L237F	KLHL7_uc003svr.4_Missense_Mutation_p.L215F|KLHL7_uc011jys.2_Missense_Mutation_p.L161F|KLHL7_uc011jyt.2_Missense_Mutation_p.L12F|KLHL7_uc003svt.3_Missense_Mutation_p.L189F|KLHL7_uc011jyv.2_Missense_Mutation_p.L12F	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	237						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGGTTTCCTCTTATATCAAA	0.383000														87			7		0	0	0.001984	0	0
MYO1B	4430	broad.mit.edu	37	2	192272864	192272864	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:192272864C>T	uc010fsg.2	+	24	2835	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	MYO1B_uc002usq.2_Silent_p.F802F|MYO1B_uc002usr.2_Silent_p.F860F|MYO1B_uc002usu.2_Silent_p.F105F	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	860	IQ 6.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACAGGAAATTCTTCAGAGCCA	0.363000														30			4		0	0	0.000602	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558863	140558863	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140558863C>T	uc011dai.2	+	0	1493	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	416	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGCAGAGCCGAGTACAACG	0.507000														79			8		0	0	0.003080	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713723	70713723	+	Missense_Mutation	SNP	C	T	T	rs72159324		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:70713723C>T	uc010ttg.2	-	0	796	c.145G>A	c.(145-147)Gat>Aat	p.D49N						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ATGAAGAAATCATGGTTCACC	0.423000														59			6		0	0	0.001984	0	0
ZNF623	9831	broad.mit.edu	37	8	144732612	144732612	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144732612C>G	uc003yzd.2	+	0	659	c.570C>G	c.(568-570)caC>caG	p.H190Q	ZNF623_uc011lkp.1_Missense_Mutation_p.H150Q|ZNF623_uc003yzc.2_Missense_Mutation_p.H150Q	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTTCATTCACTATTCAGGTC	0.473000														53			9		0	0	0.004482	0	0
TMEM5	10329	broad.mit.edu	37	12	64202716	64202716	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:64202716C>T	uc001srq.1	+	5	1280	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	TMEM5_uc001srs.1_Silent_p.L132L	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	392						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGAAGGAACTCCCTGCTGTTT	0.398000														42			4		0	0	0.001168	0	0
LANCL3	347404	broad.mit.edu	37	X	37526710	37526710	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:37526710G>A	uc011mkd.2	+	3	1373	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	LANCL3_uc004ddp.2_Silent_p.T357T	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	357							catalytic activity			lung(4)|pancreas(1)	5						ACCGGCTCACGGGAAACTCTA	0.433000														11			9		0	0	0.004482	0	0
PCNX	22990	broad.mit.edu	37	14	71428979	71428979	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:71428979C>T	uc001xmo.2	+	2	845	c.399C>T	c.(397-399)atC>atT	p.I133I	PCNX_uc001xmn.4_Silent_p.I133I|PCNX_uc010are.1_Silent_p.I133I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	133						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGAGTTCATCCGAGAGGCCA	0.443000														105			23		0	0	0.003954	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935336	151935336	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151935336G>A	uc022chl.1	-	0	831	c.831C>T	c.(829-831)gcC>gcT	p.A277A	MAGEA3_uc004fgp.3_Silent_p.A277A	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	277	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCAACGAGGGCCCTTGGAC	0.527000														48			32		0	0	0.012213	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374377	6374377	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:6374377C>T	uc003gja.3	-	4	522	c.498G>A	c.(496-498)agG>agA	p.R166R	PPP2R2C_uc003gjb.3_Silent_p.R149R|PPP2R2C_uc003gjc.3_Silent_p.R166R|PPP2R2C_uc011bwd.2_Silent_p.R159R|PPP2R2C_uc011bwe.2_Silent_p.R159R|PPP2R2C_uc003gjd.1_Silent_p.R254R	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	166					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGGCAAAGATCCTCCGAGGGC	0.587000														83			9		0	0	0.006214	0	0
CXCL9	4283	broad.mit.edu	37	4	76928579	76928579	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:76928579G>A	uc003hjh.1	-	0	63	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	8					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCCAAGAGGAAAAGAACAC	0.398000														87			8		0	0	0.004482	0	0
ACSL5	51703	broad.mit.edu	37	10	114169303	114169303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:114169303G>A	uc001kzu.3	+	6	851	c.739G>A	c.(739-741)Gca>Aca	p.A247T	ACSL5_uc001kzs.3_Missense_Mutation_p.A191T|ACSL5_uc001kzt.3_Missense_Mutation_p.A191T|ACSL5_uc009xxz.3_Missense_Mutation_p.A191T|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	191					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.K246N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACCCCAAAAGGCATTGGTGCT	0.498000														109			15		0	0	0.006122	0	0
MNDA	4332	broad.mit.edu	37	1	158813785	158813785	+	Missense_Mutation	SNP	G	A	A	rs147313543		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:158813785G>A	uc001fsz.1	+	3	643	c.443G>A	c.(442-444)aGg>aAg	p.R148K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	148					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R148R(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAAGCCAAAAGGAATAAGGTG	0.443000														92			11		0	0	0.013537	0	0
OGDHL	55753	broad.mit.edu	37	10	50953439	50953439	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:50953439T>C	uc009xog.3	-	10	1695	c.1661A>G	c.(1660-1662)tAc>tGc	p.Y554C	OGDHL_uc001jie.3_Missense_Mutation_p.Y527C|OGDHL_uc010qgt.2_Missense_Mutation_p.Y470C|OGDHL_uc010qgu.2_Missense_Mutation_p.Y318C|OGDHL_uc009xoh.2_Missense_Mutation_p.Y318C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	527					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTTGTCTGCGTACTTCTTCAG	0.602000														28			4		0	0	0.009096	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959585	61959585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:61959585G>A	uc001nsz.1	+	1	160	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_006552	NP_006543	O95968	SG1D1_HUMAN	Homo sapiens secretoglobin, family 1D, member 1 (SCGB1D1), mRNA.	38						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TTATTAGCTGGAAAACCTGTG	0.418000														34			10		0	0	0.008291	0	0
CD33	945	broad.mit.edu	37	19	51729197	51729197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51729197C>T	uc002pwa.2	+	2	597	c.557C>T	c.(556-558)tCc>tTc	p.S186F	CD33_uc010eos.1_Missense_Mutation_p.S186F|CD33_uc010eot.1_Missense_Mutation_p.S59F|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	186	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCCCCACCTCCCTGGGCCCC	0.622000														38			8		0	0	0.006214	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028388	44028388	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:44028388G>A	uc001zss.3	-	3		c.1393C>T								Homo sapiens cation channel, sperm associated 2 pseudogene 1 (CATSPER2P1), non-coding RNA.																		ATAATAACTCGAATTTGACGG	0.488000														179			43		0	0	0.014410	0	0
MTAP	4507	broad.mit.edu	37	9	21837992	21837992	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21837992T>G	uc003zph.3	+	4	546	c.433T>G	c.(433-435)Tgc>Ggc	p.C145G	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.C162G|MTAP_uc011lnl.2_Missense_Mutation_p.C78G	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	145					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TGAGCCGTTTTGCCCCAAAAC	0.473000														250			35		0	0	0.003271	0	0
ANPEP	290	broad.mit.edu	37	15	90342782	90342782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:90342782C>T	uc002bop.4	-	12	2120	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	610	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGAAGAGATCGTTCTGGGCT	0.592000														61			5		0	0	0.001168	0	0
CER1	9350	broad.mit.edu	37	9	14720209	14720209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:14720209G>A	uc003zlj.3	-	1	728	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	228	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTTGATCACGGAGGAAAGTTC	0.547000														39			7		0	0	0.004482	0	0
USP54	159195	broad.mit.edu	37	10	75302567	75302567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:75302567G>A	uc001juo.3	-	4	583	c.566C>T	c.(565-567)tCc>tTc	p.S189F	USP54_uc001jum.3_5'Flank|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.S189F|USP54_uc010qkl.1_Missense_Mutation_p.S189F|USP54_uc001juq.1_5'Flank	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	189					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCACCAAAGGGAAGTGGTGGA	0.423000														23			4		0	0	0.009096	0	0
KLHL12	59349	broad.mit.edu	37	1	202864694	202864694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202864694G>A	uc001gyo.1	-	7	1291	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	KLHL12_uc001gym.1_Missense_Mutation_p.P97L|KLHL12_uc001gyn.1_Missense_Mutation_p.P214L|KLHL12_uc010pqc.1_Missense_Mutation_p.P402L|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	364					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GACATTCATAGGGGCCACAGA	0.532000														21			10		0	0	0.008291	0	0
DOK5	55816	broad.mit.edu	37	20	53171574	53171574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:53171574C>T	uc002xwy.3	+	1	389	c.169C>T	c.(169-171)Cat>Tat	p.H57Y		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	57	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAGGTGTTATCATAAGGTAAG	0.373000														21			7		0	0	0.004482	0	0
SERPINA3	12	broad.mit.edu	37	14	95080919	95080919	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95080919C>T	uc001ydp.3	+	1	300	c.141C>T	c.(139-141)ctC>ctT	p.L47L	SERPINA3_uc001ydo.4_Silent_p.L72L|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Silent_p.L47L|SERPINA3_uc001yds.3_Silent_p.L47L	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	47					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACGTGGACCTCGGATTAGCCT	0.567000														73			6		0	0	0.001984	0	0
MYOF	26509	broad.mit.edu	37	10	95147663	95147664	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95147663_95147664CC>TT	uc001kin.3	-	18	1711_1712	c.1588_1589GG>AA	c.(1588-1590)gga>AAa	p.G530K	MYOF_uc001kio.3_Missense_Mutation_p.G517K	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	530					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTAGGCAACTCCTTCCCCCTGA	0.431000														69			7		0	0	0.004672	0	0
FAAH2	158584	broad.mit.edu	37	X	57405152	57405152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:57405152C>T	uc004dvc.3	+	5	960	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	271						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						GTGCACTGGTCCTATGTGCCG	0.498000										HNSCC(52;0.14)				21			12		0	0	0.013537	0	0
PTPRC	5788	broad.mit.edu	37	1	198701516	198701516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:198701516C>T	uc001gur.1	+	18	2236	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S	PTPRC_uc001gut.1_Missense_Mutation_p.P525S|PTPRC_uc009wzf.1_Missense_Mutation_p.P574S|PTPRC_uc021pgy.1_Missense_Mutation_p.P640S|PTPRC_uc010ppg.1_Missense_Mutation_p.P622S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	686	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L685F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGACATTCTTCCTTGTGAGTA	0.348000														39			4		0	0	0.009096	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014923	183014923	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183014923G>A	uc003fli.1	-	11	1428	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	MCF2L2_uc003flj.1_Silent_p.L446L|MCF2L2_uc011bqr.1_Intron|BC013229_uc003fln.1_Non-coding_Transcript|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	446					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.L446I(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGAAGCCAAGAGGTAGATTC	0.532000														51			5		0	0	0.001984	0	0
GNB5	10681	broad.mit.edu	37	15	52418213	52418213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52418213C>T	uc002abt.1	-	10	1006	c.941G>A	c.(940-942)aGg>aAg	p.R314K	GNB5_uc002abr.1_Missense_Mutation_p.R272K|GNB5_uc002abs.1_Missense_Mutation_p.R202K	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	314						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCAACCTCCCTATCTGCCCG	0.458000														13			5		0	0	0.001984	0	0
SYCP2L	221711	broad.mit.edu	37	6	10926589	10926589	+	Silent	SNP	G	A	A	rs147164289		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:10926589G>A	uc003mzo.3	+	15	1532	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	SYCP2L_uc011din.1_Silent_p.T253T|SYCP2L_uc010jow.3_Silent_p.T32T	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	412						nucleus		p.T412T(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGACCAGACGAAAATCTCCT	0.348000														132			35		0	0	0.009718	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961115	73961115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:73961115C>T	uc004eby.3	-	2	3894	c.3277G>A	c.(3277-3279)Gga>Aga	p.G1093R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1093					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.G1093A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGTGTTCCTAGTGTCTTC	0.507000														27			7		0	0	0.003080	0	0
OR11H6	122748	broad.mit.edu	37	14	20692800	20692800	+	Missense_Mutation	SNP	G	A	A	rs143225754	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20692800G>A	uc010tlc.2	+	0	932	c.932G>A	c.(931-933)cGa>cAa	p.R311Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R311Q(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATAGTCTTCGAAACAAAGAC	0.423000														75			6		0	0	0.003080	0	0
LOC440563	440563	broad.mit.edu	37	1	13183370	13183370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:13183370C>T	uc010obg.2	-	1	746	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	168						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTTGGAAGATCCCCGCTTTCC	0.493000														455			21		0	0	0.004656	0	0
OR52B2	255725	broad.mit.edu	37	11	6190761	6190761	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:6190761A>T	uc010qzy.2	-	0	796	c.796T>A	c.(796-798)Ttt>Att	p.F266I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACGCCCAAAATGATGGGTC	0.468000														38			6		0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	10951294	10951294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:10951294C>T	uc002yip.1	-	9	786	c.418G>A	c.(418-420)Gat>Aat	p.D140N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D122N|TPTE_uc002yir.1_Missense_Mutation_p.D102N|TPTE_uc010gkv.1_Missense_Mutation_p.D2N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	140					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)|p.M139_D140>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAGAACATCCATGAGAAAA	0.348000														76			6		0	0	0.001984	0	0
SLC26A11	284129	broad.mit.edu	37	17	78220411	78220411	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:78220411C>T	uc002jyb.2	+	12	1563	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SLC26A11_uc002jyc.2_Silent_p.F419F|SLC26A11_uc002jyd.2_Silent_p.F419F|SLC26A11_uc010dhv.2_Silent_p.F419F	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	419						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCCGCTGTTCGACACCAAGA	0.577000														15			6		0	0	0.001168	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893707	2893707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:2893707C>T	uc003mug.3	-	4	626	c.505G>A	c.(505-507)Gga>Aga	p.G169R	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_5'Flank	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	169					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTCCACTTTCCTTTGAAGTAG	0.403000														114			11		0	0	0.008291	0	0
ZNF160	90338	broad.mit.edu	37	19	53573069	53573069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:53573069G>A	uc010eqk.3	-	6	1134	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H240Y|ZNF160_uc002qar.4_Missense_Mutation_p.H240Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	240					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H240N(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AATGAAAAATGGTTAAGTTCA	0.378000														53			26		0	0	0.004656	0	0
MDGA1	266727	broad.mit.edu	37	6	37622271	37622271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:37622271G>A	uc003onu.1	-	5	1940	c.761C>T	c.(760-762)cCt>cTt	p.P254L	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	254	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATTCTCCCCAGGGTTCACCAC	0.627000														77			25		0	0	0.003954	0	0
LRBA	987	broad.mit.edu	37	4	151223869	151223869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:151223869C>T	uc010ipj.3	-	53	8202	c.7958G>A	c.(7957-7959)gGa>gAa	p.G2653E	LRBA_uc010ipi.3_Missense_Mutation_p.G175E|LRBA_uc003ils.4_Missense_Mutation_p.G548E|LRBA_uc003ilt.4_Missense_Mutation_p.G1301E|LRBA_uc003ilu.4_Missense_Mutation_p.G2642E|LRBA_uc003ilr.4_Missense_Mutation_p.G73E	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2653						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTAGCAATTTCCCCCAATATA	0.428000														41			5		0	0	0.000602	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606563	64606563	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64606563T>C	uc001obs.4	-	6	818	c.818A>G	c.(817-819)gAg>gGg	p.E273G		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	273	Protein kinase.				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						GAAGGGCGTCTCCCCAAAGAG	0.607000														52			13		0	0	0.002450	0	0
SIRPG	55423	broad.mit.edu	37	20	1616074	1616074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:1616074G>A	uc002wfm.1	-	3	985	c.920C>T	c.(919-921)aCc>aTc	p.T307I	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	307	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCAGTTGTAGGTACCATCCTT	0.542000														102			7		0	0	0.003080	0	0
PIGG	54872	broad.mit.edu	37	4	524291	524291	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:524291C>T	uc003gak.4	+	10	2464	c.2328C>T	c.(2326-2328)gaC>gaT	p.D776D	PIGG_uc003gaj.4_Silent_p.D768D|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.D643D|PIGG_uc003gal.4_Silent_p.D687D	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	776					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCACCAAAGACTTACTTAAAT	0.383000														81			20		0	0	0.008871	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901688	54901688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54901688G>A	uc001sgc.4	+	3	437	c.358G>A	c.(358-360)Gat>Aat	p.D120N	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.D70N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	120					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTGCCATTTTGATATCGTAAG	0.428000														74			5		0	0	0.001168	0	0
NYAP1	222950	broad.mit.edu	37	7	100086302	100086302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100086302C>T	uc003uvd.1	+	3	1117	c.958C>T	c.(958-960)Cct>Tct	p.P320S	NYAP1_uc003uve.1_Missense_Mutation_p.P102S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	320	Pro-rich.																CAAGACCACTCCTTGTGAAAT	0.687000														60			6		0	0	0.003080	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564158	228564158	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228564158G>A	uc002vpi.3	-	2	362	c.273C>T	c.(271-273)atC>atT	p.I91I	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.I87I	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	91					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.I91I(2)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGGTAATGATGAAACTGA	0.517000														100			21		0	0	0.012319	0	0
REST	5978	broad.mit.edu	37	4	57777225	57777225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:57777225C>T	uc003hch.3	+	1	768	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	REST_uc003hci.3_Missense_Mutation_p.P141S|REST_uc003hcj.1_Missense_Mutation_p.P141S|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	141					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TAAAGATCTTCCCCCTGAAAC	0.458000														52			12		0	0	0.013537	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424321	69424321	+	Missense_Mutation	SNP	G	A	A	rs147349994	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:69424321G>A	uc004dxx.1	+	5	911	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	272					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTTCACTCGCGGATCCTGGGG	0.502000														34			9		0	0	0.004482	0	0
EHMT1	79813	broad.mit.edu	37	9	140622819	140622819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:140622819C>T	uc011mfc.2	+	3	698	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	EHMT1_uc004coa.3_Missense_Mutation_p.P221S|EHMT1_uc004cob.1_Missense_Mutation_p.P190S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	221					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGTAAAGATCCCAGAGAAGT	0.413000														60			7		0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10432229	10432229	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10432229C>T	uc010coi.3	-	26	3650	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1174E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1174					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1173L(2)|p.R1173R(1)		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						GGAACTCAGCCTCCCGCTTCT	0.607000														93			12		0	0	0.003163	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762035	101762035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:101762035C>T	uc001pgl.3	-	8	1738	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	381	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ATTGTACATTCTTCTAATTTT	0.289000														37			11		0	0	0.001855	0	0
ERC2	26059	broad.mit.edu	37	3	55733446	55733446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:55733446C>T	uc021wzo.1	-	14	2947	c.2807G>A	c.(2806-2808)gGg>gAg	p.G936E	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.G932E	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	936						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)		TTGCGACCTCCCAGGAGATCg	0.488000														184			13		0	0	0.001855	0	0
DIDO1	11083	broad.mit.edu	37	20	61528327	61528327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61528327G>A	uc002ydr.2	-	6	1922	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	DIDO1_uc002yds.2_Missense_Mutation_p.S537F|DIDO1_uc002ydt.2_Missense_Mutation_p.S537F|DIDO1_uc002ydu.2_Missense_Mutation_p.S537F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	537					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)					TTTCTCCTCGGACCTCCTGTC	0.567000														27			4		0	0	0.000602	0	0
OR1D2	4991	broad.mit.edu	37	17	2996212	2996212	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:2996212G>A	uc010vrb.2	-	0	79	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	27					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCCAAAACAGGATCCGCTGC	0.532000														79			6		0	0	0.001168	0	0
QRICH2	84074	broad.mit.edu	37	17	74283970	74283970	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74283970C>T	uc002jrd.1	-	5	3489	c.3309G>A	c.(3307-3309)agG>agA	p.R1103R	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1103							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCCTCTGCAGCCTTTCCACCT	0.577000														46			5		0	0	0.000602	0	0
CBLN3	643866	broad.mit.edu	37	14	24897149	24897149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:24897149G>A	uc001wpg.4	-	2	935	c.464C>T	c.(463-465)gCc>gTc	p.A155V	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	155	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		AGGATCATTGGCAAAGGCTGA	0.637000														36			6		0	0	0.001168	0	0
SOCS6	9306	broad.mit.edu	37	18	67993118	67993118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:67993118C>T	uc002lkr.1	+	1	1530	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	SOCS6_uc010dqq.2_Missense_Mutation_p.S405F|SOCS6_uc021ulj.1_Missense_Mutation_p.S405F	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	405	SH2.				JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAGATGGTTCTTTTCTTGTT	0.468000														49			7		0	0	0.001984	0	0
CPXM2	119587	broad.mit.edu	37	10	125539706	125539706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125539706G>A	uc001lhk.1	-	6	1280	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	319					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)		TTATAATTGTGGTGCTTAAAA	0.403000														123			7		0	0	0.004482	0	0
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151821286G>A	uc004ffp.1	+	8	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	481						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	p.E481K(3)		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)					TTTTCCTACCGAAATCCGCAA	0.547000														49			8		0	0	0.003080	0	0
ABCC9	10060	broad.mit.edu	37	12	22048214	22048214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:22048214G>A	uc001rfh.3	-	10	1674	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	ABCC9_uc001rfi.1_Missense_Mutation_p.L552F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	552	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTACAGCAAGAACAGCTGCT	0.318000														39			4		0	0	0.009096	0	0
LRTM1	57408	broad.mit.edu	37	3	54959050	54959050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:54959050G>A	uc003dhl.3	-	1	334	c.200C>T	c.(199-201)gCt>gTt	p.A67V	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	67						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAATGCAAAAGCAGGAAGATG	0.488000														26			4		0	0	0.009096	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	A	A	rs143537709		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38888526G>A	uc021wvy.1	-	25	5234	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(2)|p.R1679H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000														52			5		0	0	0.000602	0	0
PIAS3	10401	broad.mit.edu	37	1	145585607	145585607	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:145585607C>T	uc001eoc.1	+	13	1963	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	PIAS3_uc001eod.1_Silent_p.I293I	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	624					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTCAGACATCATTTCCCTGG	0.597000														100			29		0	0	0.013726	0	0
IGF2R	3482	broad.mit.edu	37	6	160430071	160430072	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:160430071_160430072TC>AA	uc003qta.3	+	2	467_468	c.319_320TC>AA	c.(319-321)tct>AAt	p.S107N		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	107					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGCAACCAGATCTCTCCTGGAA	0.446000														46			9		0	0	0.004672	0	0
LRRC49	54839	broad.mit.edu	37	15	71203926	71203926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:71203926C>T	uc010ukf.2	+	5	877	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	LRRC49_uc002asu.3_Missense_Mutation_p.H176Y|LRRC49_uc002asx.3_Missense_Mutation_p.H142Y|LRRC49_uc002asw.3_Missense_Mutation_p.H186Y|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.H158Y	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	186						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTGGATCTTCATGGAAATCA	0.308000														89			8		0	0	0.004482	0	0
ASPM	259266	broad.mit.edu	37	1	197072844	197072844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197072844G>A	uc001gtu.3	-	17	5794	c.5537C>T	c.(5536-5538)tCt>tTt	p.S1846F	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1846	IQ 9.				mitosis	cytoplasm|nucleus	calmodulin binding	p.S1846Y(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAAGCACAGATTGATATTT	0.348000														70			13		0	0	0.002450	0	0
C1orf94	84970	broad.mit.edu	37	1	34677907	34677907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34677907C>T	uc001bxt.3	+	5	2459	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	C1orf94_uc001bxs.4_Missense_Mutation_p.P351S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	351							protein binding	p.P351S(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCCAATTATCCCTACCCTCA	0.557000														34			9		0	0	0.008291	0	0
ASPM	259266	broad.mit.edu	37	1	197071456	197071456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197071456G>A	uc001gtu.3	-	17	7182	c.6925C>T	c.(6925-6927)Ctt>Ttt	p.L2309F	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.L157F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2309					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTACCTGAAGGAACTGTAAG	0.383000														79			7		0	0	0.001984	0	0
IQGAP1	8826	broad.mit.edu	37	15	91037962	91037962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91037962G>A	uc002bpl.1	+	35	4747	c.4646G>A	c.(4645-4647)aGg>aAg	p.R1549K	IQGAP1_uc010uqg.1_Missense_Mutation_p.R170K	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1549	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAAGCCTAGGGAAATGAAA	0.363000														88			7		0	0	0.003080	0	0
CC2D2A	57545	broad.mit.edu	37	4	15591241	15591241	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:15591241A>T	uc010idv.2	+	33	4498	c.4253A>T	c.(4252-4254)tAt>tTt	p.Y1418F	CC2D2A_uc003gnx.3_Missense_Mutation_p.Y1310F|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1418					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGACATTTTTATGGACAATTT	0.378000														54			14		0	0	0.002450	0	0
SCN10A	6336	broad.mit.edu	37	3	38768112	38768112	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38768112C>T	uc003ciq.3	-	15	3072	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1024					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)	CTTTGGGGATCACTTCCTGCT	0.542000														30			4		0	0	0.000602	0	0
ITGA3	3675	broad.mit.edu	37	17	48148254	48148254	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:48148254T>C	uc010dbm.3	+	4	1175	c.711T>C	c.(709-711)taT>taC	p.Y237Y	ITGA3_uc010dbl.3_Silent_p.Y237Y	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.	237					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TATCTGAGTATAGTTACAAGG	0.502000														228			23		0	0	0.003954	0	0
ACSM2B	348158	broad.mit.edu	37	16	20551980	20551980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20551980C>T	uc002dhj.4	-	13	1835	c.1625G>A	c.(1624-1626)aGa>aAa	p.R542K	ACSM2B_uc002dhk.4_Missense_Mutation_p.R542K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	542	Coenzyme A binding (By similarity).				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.P541Q(1)|p.P541R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTACCTTTCTTGGGTACTT	0.468000														56			28		0	0	0.012213	0	0
PTCH2	8643	broad.mit.edu	37	1	45293381	45293381	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45293381G>A	uc010olf.2	-	14	2076	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	PTCH2_uc021omv.1_Silent_p.I688I|PTCH2_uc010olg.2_Silent_p.I386I	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	688					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCACCAGCACGATGGCCTGCG	0.647000									Basal Cell Nevus syndrome					32			6		0	0	0.004482	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351875	89351875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:89351875G>A	uc002fmx.1	-	8	1536	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P359S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P359S|ANKRD11_uc002fnb.1_Missense_Mutation_p.P316S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	359						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCACCGGAGGAACCCTGTCC	0.488000														96			11		0	0	0.010729	0	0
HBD	3045	broad.mit.edu	37	11	5255235	5255235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5255235G>A	uc001maf.1	-	1	496	c.301C>T	c.(301-303)Cct>Tct	p.P101S		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	101					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTTCTCAGGATCCACGTGC	0.478000														51			13		0	0	0.003163	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196928040G>A	uc001gtq.1	+	4	720	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_uc001gtr.1_Missense_Mutation_p.E91K	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000														28			4		0	0	0.009096	0	0
BTG3	10950	broad.mit.edu	37	21	18966470	18966470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:18966470G>A	uc002ykl.3	-	5	1092	c.832C>T	c.(832-834)Cct>Tct	p.P278S	BTG3_uc002ykk.3_Missense_Mutation_p.P234S	NM_001130914	NP_001124386	Q14201	BTG3_HUMAN	Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA.	234					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGCATTCCAGGAGGAGGTACC	0.423000														38			8		0	0	0.003080	0	0
ABCC5	10057	broad.mit.edu	37	3	183689601	183689601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:183689601G>A	uc003fmg.3	-	10	1676	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ABCC5_uc011bqt.2_Missense_Mutation_p.S32F|ABCC5_uc010hxl.3_Missense_Mutation_p.S504F	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	504						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGATACTGGAGTGGGAGGA	0.493000														32			8		0	0	0.006214	0	0
SERPINB8	5271	broad.mit.edu	37	18	61649006	61649006	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61649006T>A	uc002ljv.3	+	3	527	c.358T>A	c.(358-360)Tcc>Acc	p.S120T	SERPINB8_uc002ljs.1_Missense_Mutation_p.S120T|SERPINB8_uc002ljt.3_Missense_Mutation_p.S120T|SERPINB8_uc002lju.3_Missense_Mutation_p.S120T|SERPINB8_uc010xex.2_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	120					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGAGGAGTTGTCCTTTGCTGA	0.418000														79			9		0	0	0.004482	0	0
SUSD4	55061	broad.mit.edu	37	1	223465899	223465899	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223465899G>A	uc001hnx.3	-	1	877	c.243C>T	c.(241-243)gcC>gcT	p.A81A	SUSD4_uc001hny.4_Silent_p.A81A|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.A81A|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	81	Sushi 1.					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)		AGTGAAATCGGGCTACAGAGC	0.507000														61			31		0	0	0.010818	0	0
SYNE1	23345	broad.mit.edu	37	6	152793506	152793506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152793506C>T	uc021zhb.1	-	12	1616	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	SYNE1_uc003qot.4_Missense_Mutation_p.E472K|SYNE1_uc003qou.4_Missense_Mutation_p.E465K|SYNE1_uc010kjb.1_Missense_Mutation_p.E448K|SYNE1_uc003qpa.1_Missense_Mutation_p.E465K|SYNE1_uc003qox.1_5'UTR|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Missense_Mutation_p.E32K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	465					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGTAGATTTCATGGAATGCT	0.403000										HNSCC(10;0.0054)				68			7		0	0	0.008291	0	0
FCRL6	343413	broad.mit.edu	37	1	159778082	159778082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159778082G>A	uc001fud.4	+	2	209	c.167G>A	c.(166-168)gGa>gAa	p.G56E	FCRL6_uc010pix.1_Missense_Mutation_p.G51E|FCRL6_uc001fuc.2_Missense_Mutation_p.G63E|FCRL6_uc009wsz.1_Missense_Mutation_p.G56E|FCRL6_uc009wta.3_Missense_Mutation_p.G56E	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	56	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TACAGAGATGGAAAATTCCTT	0.507000														27			4		0	0	0.009096	0	0
POM121L12	285877	broad.mit.edu	37	7	53103816	53103816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:53103816G>A	uc003tpz.3	+	0	468	c.452G>A	c.(451-453)tGg>tAg	p.W151*		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	151								p.W151L(2)|p.W151C(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAGAGCCCCTGGAGATCCCCT	0.721000														17			4		0	0	0.009096	0	0
IGSF10	285313	broad.mit.edu	37	3	151161445	151161445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:151161445C>T	uc011bod.2	-	4	5290	c.5290G>A	c.(5290-5292)Gaa>Aaa	p.E1764K	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.	1764	Ig-like C2-type 4.				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)			CACTTCAGTTCCACAGTGCTT	0.507000														48			5		0	0	0.001168	0	0
LBP	3929	broad.mit.edu	37	20	36997702	36997702	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36997702C>T	uc002xic.1	+	9	1080	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	349					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L349M(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGCTCCGCTCCTGAACTTCAG	0.537000														68			20		0	0	0.014323	0	0
SEPT5	5413	broad.mit.edu	37	22	19707342	19707342	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:19707342G>A	uc002zpv.2	+	3	290	c.165G>A	c.(163-165)ctG>ctA	p.L55L	SEPT5_uc002zpw.1_Silent_p.L64L|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	55					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGTCAGGCCTGGGGAAGTCCA	0.627000														94			13		0	0	0.006122	0	0
OR9A4	130075	broad.mit.edu	37	7	141619611	141619611	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:141619611C>T	uc003vwu.1	+	0	936	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTCAACTATTCAGGAATTAGC	0.418000														51			21		0	0	0.003330	0	0
FGF16	8823	broad.mit.edu	37	X	76709696	76709696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:76709696G>A	uc011mqp.2	+	0	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	108					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AGCATCCGGGGAGTGGACTCT	0.418000														13			4		0	0	0.009096	0	0
SCN10A	6336	broad.mit.edu	37	3	38812823	38812823	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38812823G>A	uc003ciq.3	-	3	546	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	182					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)	TCAGGTACGTGAACTCATTTA	0.443000														62			16		0	0	0.003163	0	0
SKI	6497	broad.mit.edu	37	1	2160544	2160544	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:2160544C>T	uc001aja.4	+	0	411	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	113					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCTCGTGCTTCGTGGTGGGAG	0.672000														24			4		0	0	0.000602	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558555	140558555	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140558555C>T	uc011dai.2	+	0	1185	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	314	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAAAAATTTCAGTCCTATGA	0.398000														149			10		0	0	0.006214	0	0
PACSIN2	11252	broad.mit.edu	37	22	43280453	43280453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:43280453G>A	uc010gzg.3	-	5	946	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	PACSIN2_uc003bdg.4_Missense_Mutation_p.R242C|PACSIN2_uc003bdf.4_Missense_Mutation_p.R242C	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	242					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGGAAGAAGCGAAGGCGTTTC	0.527000														57			30		0	0	0.009535	0	0
HIPK4	147746	broad.mit.edu	37	19	40886322	40886322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:40886322C>T	uc002onp.3	-	2	1861	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	526						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGATGCTCTCCTTCCTCCCAG	0.617000														50			8		0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:141215150C>T	uc002tvj.1	-	60	10668	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					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)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)				36			12		0	0	0.002450	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063616	103063616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:103063616G>A	uc002tbx.3	+	9	1643	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	IL18RAP_uc010fiz.3_Missense_Mutation_p.E245K	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	387					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						GCACTGGATTGAAATAGTGCT	0.577000														113			8		0	0	0.006214	0	0
EHBP1	23301	broad.mit.edu	37	2	63101536	63101536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:63101536C>T	uc002sby.3	+	10	1641	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	EHBP1_uc010fcp.3_Missense_Mutation_p.P352S|EHBP1_uc002sbz.3_Missense_Mutation_p.P352S|EHBP1_uc002scb.3_Missense_Mutation_p.P352S	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	387						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTGGTAAATCCTGTTCAAGA	0.363000														60			8		0	0	0.003080	0	0
MCTP2	55784	broad.mit.edu	37	15	94899422	94899422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:94899422G>A	uc002btj.3	+	7	1127	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	MCTP2_uc010urg.1_Nonsense_Mutation_p.W354*|MCTP2_uc002bti.2_Nonsense_Mutation_p.W354*|MCTP2_uc010boj.3_Nonsense_Mutation_p.W83*|MCTP2_uc010bok.3_Nonsense_Mutation_p.W354*|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	354	C2 2.				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)			ACCAACTCTGGAACGGGATTA	0.393000														90			11		0	0	0.013537	0	0
PSG5	5673	broad.mit.edu	37	19	43689184	43689184	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43689184C>T	uc002ovu.3	-	1	311	c.180G>A	c.(178-180)caG>caA	p.Q60Q	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.Q60Q	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	60	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CAGCAAGATTCTGAGGCAAAT	0.448000														71			49		0	0	0.014410	0	0
PTPRU	10076	broad.mit.edu	37	1	29581888	29581889	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:29581888_29581889GG>AA	uc001bru.3	+	1	304_305	c.175_176GG>AA	c.(175-177)ggc>AAc	p.G59N	PTPRU_uc009vtq.3_Missense_Mutation_p.G59N|PTPRU_uc009vtr.3_Missense_Mutation_p.G59N|PTPRU_uc001brw.3_Missense_Mutation_p.G59N	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	59	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATCCACCCTGGCACCCGGGCA	0.609000														50			11		0	0	0.004672	0	0
CR2	1380	broad.mit.edu	37	1	207644767	207644767	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207644767G>A	uc001hfw.3	+	9	1613	c.1494_splice	c.e9-1	p.G498_splice	CR2_uc001hfv.3_Splice_Site_p.G498_splice|CR2_uc009xch.3_Splice_Site_p.G498_splice|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	498	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTGTCTCTAGGTACAAGTTA	0.438000														73			7		0	0	0.006214	0	0
C2orf16	84226	broad.mit.edu	37	2	27799475	27799475	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27799475A>G	uc002rkz.4	+	0	87	c.36A>G	c.(34-36)atA>atG	p.I12M		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	12										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)					AGCAAGGTATAAATTATCAAG	0.453000														18			8		0	0	0.008291	0	0
ANO3	63982	broad.mit.edu	37	11	26574872	26574872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:26574872G>A	uc001mqt.4	+	12	1511	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	ANO3_uc010rdr.2_Missense_Mutation_p.D440N|ANO3_uc010rds.2_Missense_Mutation_p.D295N|ANO3_uc010rdt.2_Missense_Mutation_p.D310N	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	456						chloride channel complex	chloride channel activity			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						GAGACTCAACGACAGCTGTAT	0.443000														99			18		0	0	0.007413	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696185	10696185	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:10696185C>T	uc002kos.2	-	42	6912	c.6738G>A	c.(6736-6738)gtG>gtA	p.V2246V	PIEZO2_uc002koq.3_Silent_p.V101V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2246						integral to membrane	ion channel activity										GGGCTCGGTCCACCACCATGG	0.512000														28			9		0	0	0.004482	0	0
PMP2	5375	broad.mit.edu	37	8	82357172	82357172	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:82357172G>A	uc003ycb.1	-	1	224	c.126C>T	c.(124-126)atC>atT	p.I42I	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	42						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTTGCTGATGATCACAGTGG	0.388000														40			5		0	0	0.000602	0	0
ZFP112	7771	broad.mit.edu	37	19	44891757	44891757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:44891757G>A	uc010xxa.2	-	3	714	c.671C>T	c.(670-672)tCa>tTa	p.S224L	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S217L	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TTCAACCGTTGATTTCATACC	0.463000														50			17		0	0	0.008871	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950957	30950957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:30950957C>T	uc003aig.1	-	3	1395	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	GAL3ST1_uc003aih.1_Missense_Mutation_p.D419N|GAL3ST1_uc003aii.1_Missense_Mutation_p.D419N|GAL3ST1_uc010gvz.1_Missense_Mutation_p.D419N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	419					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGCAGGAAATCGCGAATGAAC	0.682000														20			7		0	0	0.003080	0	0
RFC4	5984	broad.mit.edu	37	3	186509532	186509532	+	Silent	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:186509532C>G	uc003fqz.3	-	7	1006	c.783G>C	c.(781-783)gtG>gtC	p.V261V	RFC4_uc011bsc.2_Silent_p.V261V|RFC4_uc011bsd.2_Silent_p.V261V	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	261					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTCTGTAATCACTTTCTCTG	0.373000														47			14		0	0	0.001855	0	0
OR11H4	390442	broad.mit.edu	37	14	20711877	20711877	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20711877C>T	uc010tld.2	+	0	927	c.927C>T	c.(925-927)ctC>ctT	p.L309L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACATGAAACTCGCTCTGAGAA	0.393000														57			5		0	0	0.001168	0	0
TTI1	9675	broad.mit.edu	37	20	36641063	36641063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:36641063G>A	uc002xhl.3	-	2	1365	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	TTI1_uc002xhm.3_Missense_Mutation_p.P386S	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	386							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATTAGGCGAGGAAGAGATGTG	0.438000														125			14		0	0	0.002450	0	0
OR4K1	79544	broad.mit.edu	37	14	20404557	20404557	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:20404557C>T	uc001vwj.2	+	0	791	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	244					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)		CTGCCCACATCACAGTGGTCA	0.418000														77			7		0	0	0.001984	0	0
NHLRC2	374354	broad.mit.edu	37	10	115668122	115668122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:115668122C>T	uc001lax.2	+	10	2249	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	670					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ACTACAAATTCCTGATGATTG	0.368000														48			6		0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2818669	2818669	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:2818669G>A	uc022aqr.1	-	61	10086	c.9696C>T	c.(9694-9696)ggC>ggT	p.G3232G	CSMD1_uc011kwj.2_Silent_p.G2562G|CSMD1_uc010lrg.3_Silent_p.G1124G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3233	Sushi 27.					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)		CTACCTCATAGCCTCTGGAGC	0.343000														18			5		0	0	0.001168	0	0
NDST4	64579	broad.mit.edu	37	4	115891729	115891729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:115891729C>T	uc003ibu.3	-	3	1757	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	360	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E360*(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTTCATCTTCCTCTTCAGTC	0.373000														22			5		0	0	0.000602	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298262	42298262	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:42298262G>A	uc021sjp.1	-	3	451	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	133					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAACTGTCAGGAGATGGTCA	0.522000														54			6		0	0	0.001168	0	0
PLAA	9373	broad.mit.edu	37	9	26919513	26919513	+	Silent	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:26919513A>T	uc003zqd.3	-	8	1637	c.1212T>A	c.(1210-1212)gtT>gtA	p.V404V	PLAA_uc003zqe.2_Silent_p.V404V	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	404	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAATTGAGAAAACATAATCAA	0.313000														126			8		0	0	0.003080	0	0
OR1L3	26735	broad.mit.edu	37	9	125437891	125437891	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125437891C>T	uc011lzb.2	+	0	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TACATGTCCTCCTGGTGAATC	0.443000														150			13		0	0	0.004007	0	0
KRT76	51350	broad.mit.edu	37	12	53170973	53170973	+	Missense_Mutation	SNP	G	A	A	rs145777357	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:53170973G>A	uc001sax.3	-	0	157	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	35	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCCAGAGCGGGCCACACAG	0.612000														46			5		0	0	0.001168	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418955	105418955	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:105418955G>A	uc010axc.1	-	6	2953	c.2833C>T	c.(2833-2835)Ctg>Ttg	p.L945L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L845L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	945						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTTTCAGGTCCAGCTTG	0.607000														159			37		0	0	0.008740	0	0
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:19553804G>A	uc001vuz.1	+	0	440	c.388G>A	c.(388-390)Gag>Aag	p.E130K	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	130								p.E130*(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592000														162			18		0	0	0.004656	0	0
LMOD2	442721	broad.mit.edu	37	7	123302705	123302705	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:123302705G>A	uc003vky.2	+	1	1222	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	355						cytoskeleton	actin binding|tropomyosin binding										TGGATAAACAGAGGCAAAAAC	0.473000														84			9		0	0	0.008291	0	0
TXNDC16	57544	broad.mit.edu	37	14	52985926	52985926	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:52985926T>A	uc001wzs.3	-	6	927	c.478A>T	c.(478-480)Att>Ttt	p.I160F	TXNDC16_uc010tqu.2_Missense_Mutation_p.I155F|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	160					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GAGAATATAATATTTGCTTTT	0.323000														54			6		0	0	0.001984	0	0
TREM1	54210	broad.mit.edu	37	6	41250362	41250362	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:41250362C>T	uc003oqf.2	-	1	241	c.177G>A	c.(175-177)agG>agA	p.R59R	TREM1_uc003oqg.2_Silent_p.R59R|TREM1_uc021yzj.1_Silent_p.R59R	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	59	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TCTCTCCGTCCCTTATTATCT	0.493000														91			6		0	0	0.003080	0	0
ZNF609	23060	broad.mit.edu	37	15	64968435	64968436	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:64968435_64968436CC>TT	uc002ann.3	+	3	3382_3383	c.3382_3383CC>TT	c.(3382-3384)cca>TTa	p.P1128L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1128						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAGATGGATCCAATACTCTGG	0.505000														59			7		0	0	0.004672	0	0
CGNL1	84952	broad.mit.edu	37	15	57730408	57730408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:57730408G>A	uc010bfw.3	+	2	404	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CGNL1_uc002aeg.3_Missense_Mutation_p.E71K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	71	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATCGTTTTCTGAAAATGGGCC	0.488000														49			17		0	0	0.008871	0	0
AK127026	0	broad.mit.edu	37	7	72714634	72714634	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72714634C>T	uc011keu.1	+	1		c.1670_splice	c.e1+1		FKBP6_uc003twz.2_Intron					Homo sapiens cDNA FLJ45082 fis, clone BRAWH3028202.																		TTGCACCTTTCGGTAAGCAGC	0.637000														12			4		0	0	0.009096	0	0
KDM1A	23028	broad.mit.edu	37	1	23398665	23398665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:23398665C>T	uc001bgi.2	+	11	1674	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	KDM1A_uc001bgj.2_Nonsense_Mutation_p.Q533*	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	509	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	p.H508D(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAAAAACTTCAGGAGTTGGA	0.388000														15			4		0	0	0.009096	0	0
TMEM175	84286	broad.mit.edu	37	4	947123	947123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:947123C>T	uc003gbq.3	+	7	706	c.608C>T	c.(607-609)tCt>tTt	p.S203F	TMEM175_uc010ibl.1_Missense_Mutation_p.S203F|TMEM175_uc003gbp.1_Missense_Mutation_p.S121F|TMEM175_uc003gbs.3_Missense_Mutation_p.S86F|TMEM175_uc003gbt.3_Missense_Mutation_p.S86F|TMEM175_uc003gbr.3_Missense_Mutation_p.S121F	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	203						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCATCTTCTCTCTCTTCTTT	0.642000														28			6		0	0	0.001168	0	0
A1CF	29974	broad.mit.edu	37	10	52569699	52569699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:52569699C>T	uc001jjj.3	-	11	1776	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	A1CF_uc010qho.2_Missense_Mutation_p.D538N|A1CF_uc010qhn.2_Missense_Mutation_p.D530N|A1CF_uc009xov.3_Missense_Mutation_p.D522N|A1CF_uc001jji.3_Missense_Mutation_p.D522N|A1CF_uc001jjh.3_Missense_Mutation_p.D530N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	530					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATGGTGCCATCGCCTCCATCA	0.547000														47			7		0	0	0.003080	0	0
LPIN2	9663	broad.mit.edu	37	18	2934435	2934435	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:2934435T>G	uc002klo.3	-	7	1421	c.1182A>C	c.(1180-1182)agA>agC	p.R394S		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	394					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGTGTTGGCTTCTTTTGTGAA	0.378000														24			3		0	0	0.009096	0	0
SCN5A	6331	broad.mit.edu	37	3	38622611	38622611	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:38622611G>A	uc021wvo.1	-	15	3091	c.3039C>T	c.(3037-3039)ccC>ccT	p.P1013P	SCN5A_uc021wvk.1_Silent_p.P1013P|SCN5A_uc021wvl.1_Silent_p.P1013P|SCN5A_uc021wvm.1_Silent_p.P1013P|SCN5A_uc021wvn.1_Silent_p.P1013P|SCN5A_uc021wvp.1_Silent_p.P1013P|SCN5A_uc021wvq.1_Silent_p.P1013P|SCN5A_uc021wvr.1_Silent_p.P1013P|SCN5A_uc021wvs.1_Silent_p.P1013P|SCN5A_uc021wvt.1_Silent_p.P1013P|SCN5A_uc021wvu.1_Silent_p.P1013P|SCN5A_uc021wvv.1_Silent_p.P1013P|SCN5A_uc021wvj.1_Silent_p.P879P|SCN5A_uc021wvi.1_Silent_p.P879P|SCN5A_uc021wvw.1_Silent_p.P624P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1013					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)	CCGTCTCTGGGGGTGGCGGGG	0.692000														17			5		0	0	0.000602	0	0
TTC26	79989	broad.mit.edu	37	7	138872206	138872206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138872206C>T	uc003vus.2	+	16	1588	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Missense_Mutation_p.P461S|TTC26_uc011kqp.1_Missense_Mutation_p.P387S|TTC26_uc003vut.2_Missense_Mutation_p.P352S|TTC26_uc011kqq.1_Missense_Mutation_p.P361S	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	492							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GAGGCTGGATCCTAACCCTGA	0.443000														66			32		0	0	0.012213	0	0
AZU1	566	broad.mit.edu	37	19	828240	828240	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:828240C>T	uc002lpz.1	+	1	85	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	23					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCAGCCCCCTTTTGGACA	0.647000														86			6		0	0	0.001168	0	0
TCRA	0	broad.mit.edu	37	14	22363196	22363196	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22363196C>T	uc021rpj.1	+	1	498	c.327C>T	c.(325-327)ttC>ttT	p.F109F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		CTGAGTACTTCTGTGCTGTGA	0.478000														33			5		0	0	0.000602	0	0
IGSF9	57549	broad.mit.edu	37	1	159907562	159907562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:159907562C>T	uc001fur.2	-	3	512	c.314G>A	c.(313-315)tGg>tAg	p.W105*	IGSF9_uc001fuq.2_Nonsense_Mutation_p.W105*	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	105	Ig-like 1.					cell junction|integral to membrane|synapse				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)			GCACTCGTACCAGCCCTGGTC	0.592000														40			5		0	0	0.001168	0	0
C15orf39	56905	broad.mit.edu	37	15	75498907	75498907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:75498907C>T	uc002azp.4	+	1	838	c.518C>T	c.(517-519)cCc>cTc	p.P173L	C15orf39_uc002azq.4_Missense_Mutation_p.P173L|C15orf39_uc021sqm.1_5'UTR|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	173										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGACCCACCCTGCTCTCTG	0.622000														60			7		0	0	0.004482	0	0
TFIP11	24144	broad.mit.edu	37	22	26902376	26902376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:26902376G>A	uc003acr.2	-	4	787	c.413C>T	c.(412-414)tCt>tTt	p.S138F	TFIP11_uc003acs.2_Missense_Mutation_p.S138F|TFIP11_uc003act.2_Missense_Mutation_p.S138F	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	138					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.S138S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCCATGAAAGATTTGGTTCC	0.443000														60			13		0	0	0.002450	0	0
FNBP4	23360	broad.mit.edu	37	11	47746311	47746312	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:47746311_47746312GG>AA	uc009ylv.3	-	12	2180_2181	c.2027_2028CC>TT	c.(2026-2028)tcc>tTT	p.S676F	FNBP4_uc001ngj.3_Missense_Mutation_p.S583F|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	676										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GACCAGAAAAGGATTCTTTACA	0.406000														34			7		0	0	0.004672	0	0
FAM113B	91523	broad.mit.edu	37	12	47629084	47629084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:47629084C>T	uc001rpq.3	+	1	763	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	FAM113B_uc001rpn.3_Missense_Mutation_p.R80C|FAM113B_uc021qxi.1_Missense_Mutation_p.R80C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	80							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)					CCGTGAGGTCCGCGAGTTCCG	0.582000														58			5		0	0	0.000602	0	0
RENBP	5973	broad.mit.edu	37	X	153208415	153208415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:153208415C>T	uc004fjo.2	-	5	749	c.579G>A	c.(577-579)atG>atA	p.M193I	RENBP_uc011mzh.1_Missense_Mutation_p.M193I	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	193					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity	p.G193V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TCAGTAGCATCATGGGCACCG	0.682000														25			9		0	0	0.004482	0	0
DPT	1805	broad.mit.edu	37	1	168698112	168698112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:168698112C>T	uc001gfp.3	-	0	331	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	101	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)					CCTTACCATTCCATGCCAGCC	0.582000														50			15		0	0	0.003163	0	0
HDAC9	9734	broad.mit.edu	37	7	18688097	18688097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:18688097C>T	uc003sui.3	+	9	1299	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	HDAC9_uc003sue.3_Missense_Mutation_p.P417S|HDAC9_uc011jyd.2_Missense_Mutation_p.P417S|HDAC9_uc003suh.3_Missense_Mutation_p.P417S|HDAC9_uc003suj.3_Missense_Mutation_p.P376S|HDAC9_uc011jya.2_Missense_Mutation_p.P415S|HDAC9_uc003sua.1_Missense_Mutation_p.P395S|HDAC9_uc003sud.2_Missense_Mutation_p.P417S|HDAC9_uc011jyc.2_Missense_Mutation_p.P376S|HDAC9_uc011jyb.2_Missense_Mutation_p.P373S|HDAC9_uc003suf.2_Missense_Mutation_p.P448S|HDAC9_uc010kud.2_Missense_Mutation_p.P420S|HDAC9_uc011jye.2_Missense_Mutation_p.P389S|HDAC9_uc011jyf.2_Missense_Mutation_p.P340S|HDAC9_uc010kue.1_Missense_Mutation_p.P160S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	417					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGTGGAGTTCCCTTACATCC	0.428000														41			14		0	0	0.002450	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273462	2273462	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:2273462A>G	uc003gex.2	-	10	2688	c.2368T>C	c.(2368-2370)Tgc>Cgc	p.C790R	ZFYVE28_uc011bvk.2_Missense_Mutation_p.C720R|ZFYVE28_uc011bvl.2_Missense_Mutation_p.C760R|ZFYVE28_uc003gew.2_Missense_Mutation_p.C676R	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	790					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCTCCTGGCACAGTGCACAG	0.617000														87			12		0	0	0.001855	0	0
CD163	9332	broad.mit.edu	37	12	7640503	7640503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7640503C>T	uc001qsz.3	-	6	1729	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	CD163_uc001qta.3_Missense_Mutation_p.G534E|CD163_uc009zfw.2_Missense_Mutation_p.G534E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	534	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCCTCTCCAAAGTGAGC	0.527000														40			6		0	0	0.001984	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18443928	18443928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:18443928C>T	uc001rdt.3	+	3	1017	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.L301F|PIK3C2G_uc010sic.2_Missense_Mutation_p.L79F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	301					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)				AACACAACCTCTTCATTTTAT	0.363000														21			6		0	0	0.001168	0	0
TAF3	83860	broad.mit.edu	37	10	8007232	8007232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:8007232C>T	uc010qbd.2	+	2	1759	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	587	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGAGGCAGATCCCTACAAGTT	0.368000														77			8		0	0	0.003080	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119807	38119807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:38119807C>T	uc003atr.3	+	6	1515	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	TRIOBP_uc003atu.3_Missense_Mutation_p.S243F|TRIOBP_uc003atq.1_Missense_Mutation_p.S415F|TRIOBP_uc003ats.1_Missense_Mutation_p.S243F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	415					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAAAGCCTCCAGAACCTCC	0.577000														49			9		0	0	0.004482	0	0
ADCY8	114	broad.mit.edu	37	8	131916206	131916206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:131916206C>T	uc003ytd.4	-	6	1979	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	ADCY8_uc010mds.3_Missense_Mutation_p.E575K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	575					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)			CTCAGGAATTCATTCCTCTCT	0.463000										HNSCC(32;0.087)				145			12		0	0	0.001855	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262598	144262598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:144262598G>A	uc003qjv.3	-	2	2621	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	PLAGL1_uc003qjx.3_Missense_Mutation_p.S452F|PLAGL1_uc003qjy.3_Missense_Mutation_p.S452F|PLAGL1_uc010khl.3_Missense_Mutation_p.S452F|PLAGL1_uc010khm.3_Missense_Mutation_p.S452F|PLAGL1_uc003qjz.3_Missense_Mutation_p.S452F|PLAGL1_uc003qka.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkb.3_Missense_Mutation_p.S400F|PLAGL1_uc003qkc.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkd.3_Missense_Mutation_p.S400F|PLAGL1_uc003qke.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkf.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkg.3_Missense_Mutation_p.S400F|PLAGL1_uc003qkh.3_Missense_Mutation_p.S452F|PLAGL1_uc003qki.3_Missense_Mutation_p.S400F|PLAGL1_uc003qkj.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkk.3_Missense_Mutation_p.S400F|PLAGL1_uc003qkl.3_Missense_Mutation_p.S400F|PLAGL1_uc003qkm.3_Missense_Mutation_p.S452F|PLAGL1_uc010khn.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkn.3_Missense_Mutation_p.S400F|PLAGL1_uc003qko.3_Missense_Mutation_p.S452F|PLAGL1_uc003qkp.3_Missense_Mutation_p.S400F|PLAGL1_uc003qjw.3_Missense_Mutation_p.S400F|PLAGL1_uc021zgj.1_Missense_Mutation_p.S400F	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	452					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGATGGCAGAGCCAGTGCC	0.493000														309			32		0	0	0.004878	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365943	47365943	+	RNA	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:47365943T>C	uc001cqo.1	-	0		c.205A>G			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CTTGTGGCCATAGAACCAGTG	0.473000														55			6		0	0	0.001168	0	0
AGMAT	79814	broad.mit.edu	37	1	15906600	15906600	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:15906600C>T	uc001awv.2	-	2	656	c.513G>A	c.(511-513)gcG>gcA	p.A171A	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	171					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTGCCATCGCTTGCAATA	0.403000														40			8		0	0	0.008291	0	0
S1PR2	9294	broad.mit.edu	37	19	10335343	10335343	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10335343A>G	uc002mnl.2	-	1	350	c.239T>C	c.(238-240)cTa>cCa	p.L80P	S1PR2_uc021uos.1_Missense_Mutation_p.L80P	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	80					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCTGCCAGTAGATCGGAGGC	0.592000														25			10		0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	170115567	170115567	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:170115567G>A	uc002ues.3	-	16	2694	c.2481C>T	c.(2479-2481)aaC>aaT	p.N827N	LRP2_uc010zdf.1_Silent_p.N690N	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	827					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCGACCGTGGGTTATTTAAAT	0.398000														45			12		0	0	0.010729	0	0
abParts	0	broad.mit.edu	37	14	106725454	106725454	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106725454G>A	uc021ser.1	-	927		c.22058C>T								Parts of antibodies, mostly variable regions.																		GGACCCCCCAGGCTGTACCAA	0.587000														96			9		0	0	0.006214	0	0
THNSL1	79896	broad.mit.edu	37	10	25314037	25314038	+	Missense_Mutation	DNP	AA	CT	CT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:25314037_25314038AA>CT	uc001isi.4	+	2	2214_2215	c.1885_1886AA>CT	c.(1885-1887)aac>CTc	p.N629L	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.N629L	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	629					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AGCAGCTATTAACTCCACCTAT	0.436000														50			11		0	0	0.004672	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764617	92764617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:92764617C>T	uc003umh.1	-	4	1884	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD9L_uc003umj.1_Missense_Mutation_p.R223Q|SAMD9L_uc003umi.1_Missense_Mutation_p.R223Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.R223Q|SAMD9L_uc003umk.1_Missense_Mutation_p.R223Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.R223Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.R223Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.R223Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	223										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGATGCAAATCGGAAGACTTC	0.418000														69			22		0	0	0.014323	0	0
SP140	11262	broad.mit.edu	37	2	231177307	231177307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:231177307G>A	uc002vql.3	+	26	2627	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N	SP140_uc010zma.1_Intron|SP140_uc002vqn.3_Missense_Mutation_p.D724N|SP140_uc002vqm.3_Missense_Mutation_p.D778N|SP140_uc010fxl.3_Missense_Mutation_p.D811N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	838				D -> G (in Ref. 1; AAB18617).	defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCAGTACAAGGATTTTGGCCA	0.363000														47			10		0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34035053	34035053	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34035053G>A	uc001bxm.1	-	51	8229	c.8052C>T	c.(8050-8052)tcC>tcT	p.S2684S	CSMD2_uc001bxn.1_Silent_p.S2686S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2686	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTGTATCCGGAATTGCAGG	0.582000														28			7		0	0	0.001984	0	0
TFAP2E	339488	broad.mit.edu	37	1	36054033	36054033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:36054033C>T	uc010ohy.2	+	3	873	c.665C>T	c.(664-666)cCc>cTc	p.P222L	PSMB2_uc001bzd.2_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) (TFAP2E), mRNA.	222						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCTCCGTGCCCGGCCGGCTT	0.642000														73			12		0	0	0.010729	0	0
KLK5	25818	broad.mit.edu	37	19	51446984	51446985	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51446984_51446985CC>TT	uc002pue.3	-	6	1002_1003	c.784_785GG>AA	c.(784-786)gga>AAa	p.G262K	KLK5_uc002puf.3_Missense_Mutation_p.G262K|KLK5_uc002pug.3_Missense_Mutation_p.G262K	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	262	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGGGTAATCTCCCCAGGACACG	0.599000														25			7		0	0	0.004672	0	0
GPR179	440435	broad.mit.edu	37	17	36485191	36485191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:36485191C>T	uc002hpz.3	-	10	4282	c.4261G>A	c.(4261-4263)Gga>Aga	p.G1421R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1421						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)				AAGTCTCCTCCCGGTTTCTGT	0.537000														54			11		0	0	0.013537	0	0
MLL2	8085	broad.mit.edu	37	12	49444864	49444864	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:49444864G>C	uc001rta.4	-	9	2602	c.2602C>G	c.(2602-2604)Cct>Gct	p.P868A		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	868	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGCTCCTCAGGGGGCTTTTCA	0.647000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				72			11		0	0	0.008291	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777040	25777040	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:25777040G>A	uc003nfe.3	+	10	1240	c.1121_splice	c.e10-1	p.G374_splice	SLC17A4_uc011djx.2_Splice_Site_p.G144_splice|SLC17A4_uc003nff.1_Missense_Mutation_p.G163E|SLC17A4_uc003nfg.3_Splice_Site_p.G311_splice|SLC17A4_uc010jqa.3_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	374					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTACCCCAGGGGTTCTCTTC	0.562000														93			9		0	0	0.010729	0	0
TMEM209	84928	broad.mit.edu	37	7	129832510	129832510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:129832510C>T	uc003vpn.2	-	5	850	c.727G>A	c.(727-729)Gat>Aat	p.D243N	TMEM209_uc010lmc.1_Missense_Mutation_p.D243N	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	243						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGAAAAGTATCCAAAGTTCGT	0.408000														30			15		0	0	0.002450	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367368	234367368	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234367368C>T	uc001hvy.1	+	2	634	c.489C>T	c.(487-489)ttC>ttT	p.F163F	SLC35F3_uc001hwa.1_Silent_p.F94F	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	94					transport	integral to membrane		p.F163F(2)|p.K162T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAGGAAGTTCGACGCGCCCT	0.587000														125			10		0	0	0.010729	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648365	74648365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:74648365G>A	uc001dfy.4	-	2	622	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	144	LRRCT.							p.L144I(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTGTTAACAAGAACATGTCTA	0.368000														44			5		0	0	0.000602	0	0
CD33	945	broad.mit.edu	37	19	51738413	51738413	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51738413G>A	uc002pwa.2	+	5	786	c.746_splice	c.e5-1	p.G249_splice	CD33_uc010eos.1_Splice_Site_p.G249_splice|CD33_uc010eot.1_Splice_Site_p.G122_splice|CD33_uc010eou.1_Splice_Site	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	249					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTCTGCAGGGAAACAAGAGA	0.483000														51			6		0	0	0.003080	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938508	30938508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:30938508C>T	uc009yjk.1	-	13	1774	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E228K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	200	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGTGAAGTTTCCTGCCAGGCA	0.418000														85			6		0	0	0.001984	0	0
RFX3	5991	broad.mit.edu	37	9	3270456	3270456	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:3270456G>A	uc003zhr.3	-	11	1584	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	RFX3_uc010mhd.3_Silent_p.I424I|RFX3_uc003zhs.1_Silent_p.I424I	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	424					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCCATTTCAGGATAGACTCAT	0.418000														28			6		0	0	0.001984	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558439	129558439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:129558439C>T	uc009zyl.1	-	8	3609	c.3281G>A	c.(3280-3282)aGg>aAg	p.R1094K	TMEM132D_uc001uia.2_Missense_Mutation_p.R632K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1094						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)		TTCATGTAACCTCTCCATGTA	0.502000														75			7		0	0	0.004482	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243311	6243311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:6243311C>T	uc002kmz.4	-	6	602	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	L3MBTL4_uc002kmy.4_Missense_Mutation_p.E148K|L3MBTL4_uc010dkt.3_Missense_Mutation_p.E148K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	148					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATGTGCAGTTCATGTTTGGTC	0.358000														67			7		0	0	0.001984	0	0
C16orf88	400506	broad.mit.edu	37	16	19725860	19725860	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:19725860G>A	uc002dgq.3	-	1	513	c.498C>T	c.(496-498)gtC>gtT	p.V166V	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	166	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						AAGGGTCCTGGACCGAGAAGG	0.567000														46			5		0	0	0.001984	0	0
TRPM2	7226	broad.mit.edu	37	21	45799023	45799023	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:45799023C>T	uc010gpt.1	+	7	1258	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	TRPM2_uc002zet.1_Silent_p.F386F|TRPM2_uc002zeu.1_Silent_p.F386F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F386F|TRPM2_uc002zex.1_Silent_p.F172F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	386						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAGCGTGTTCTTCCAGGAGA	0.582000														63			5		0	0	0.001168	0	0
AIM1L	55057	broad.mit.edu	37	1	26671995	26671995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:26671995G>A	uc001bmd.4	-	1	1304	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CAGAACAAGGGGAGTGAGCCG	0.647000														41			5		0	0	0.001168	0	0
CNTN6	27255	broad.mit.edu	37	3	1394070	1394070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:1394070C>T	uc003boz.3	+	11	1694	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	CNTN6_uc011asj.2_Missense_Mutation_p.S404L|CNTN6_uc003bpa.3_Missense_Mutation_p.S476L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	476	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATGCTGGATCATATACATGC	0.358000														27			9		0	0	0.006214	0	0
ASAH2	56624	broad.mit.edu	37	10	52005073	52005073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:52005073G>A	uc001jjd.3	-	1	269	c.269C>T	c.(268-270)aCc>aTc	p.T90I	ASAH2_uc009xos.3_Missense_Mutation_p.T90I	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	90					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						AGACTCTGGGGTTAAAGGCAC	0.537000														114			27		0	0	0.003954	0	0
C5orf25	375484	broad.mit.edu	37	5	175763726	175763726	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175763726A>T	uc003mds.4	+	9	2525	c.2118A>T	c.(2116-2118)gaA>gaT	p.E706D	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.E291D|C5orf25_uc003mdv.3_Missense_Mutation_p.E167D			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	706												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	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;0.000178)	Kidney(146;0.119)		CACACAGAGAAATGTTCTTTA	0.448000														98			7		0	0	0.004482	0	0
HECTD3	79654	broad.mit.edu	37	1	45474336	45474336	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45474336G>A	uc009vxk.3	-	7	1208	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Silent_p.I86I	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	370	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TAGATGACTTGATCTTGACCC	0.542000														93			9		0	0	0.008291	0	0
DSP	1832	broad.mit.edu	37	6	7569424	7569424	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:7569424C>T	uc003mxp.1	+	11	1704	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	DSP_uc003mxq.1_Silent_p.I475I|DSP_uc021yle.1_Silent_p.I475I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	475	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACAGAAAATCGTGCATAAGG	0.468000														93			8		0	0	0.004482	0	0
EWSR1	2130	broad.mit.edu	37	22	29684598	29684598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29684598C>T	uc003aet.3	+	7	1125	c.797C>T	c.(796-798)tCa>tTa	p.S266L	EWSR1_uc003aes.4_Missense_Mutation_p.S266L|EWSR1_uc003aev.3_Missense_Mutation_p.S272L|EWSR1_uc003aex.3_Missense_Mutation_p.S266L|EWSR1_uc003aew.3_Missense_Mutation_p.S210L|EWSR1_uc003aey.3_Missense_Mutation_p.S61L|EWSR1_uc003aez.3_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	266	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).|IQ.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCTCAGGTTCATTCCGACAG	0.507000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									58			6		0	0	0.001984	0	0
IFT88	8100	broad.mit.edu	37	13	21237654	21237654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:21237654C>T	uc001unh.3	+	24	2509	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	IFT88_uc001uni.3_Missense_Mutation_p.R696C|IFT88_uc001unj.3_Missense_Mutation_p.R695C|IFT88_uc010tcq.2_Missense_Mutation_p.R676C	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	705					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTTCTTAGTTCGTCTCTGCAC	0.328000														27			4		0	0	0.000602	0	0
DOPEY1	23033	broad.mit.edu	37	6	83872624	83872624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:83872624C>T	uc011dyy.2	+	37	7311	c.7051C>T	c.(7051-7053)Cgg>Tgg	p.R2351W	DOPEY1_uc003pjs.1_Missense_Mutation_p.R2360W|DOPEY1_uc010kbl.1_Missense_Mutation_p.R2351W|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2360					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAACTTCTTCGGAAAAGAGC	0.378000														62			17		0	0	0.007413	0	0
SCML2	10389	broad.mit.edu	37	X	18283813	18283813	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:18283813G>A	uc004cyl.2	-	7	997	c.840C>T	c.(838-840)gtC>gtT	p.V280V	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.V280V|SCML2_uc011miz.1_Silent_p.V214V|SCML2_uc010nfc.2_Silent_p.V16V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	280					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTGATCTCCTGACCTGCTGTG	0.418000														51			15		0	0	0.004007	0	0
CPA6	57094	broad.mit.edu	37	8	68346387	68346387	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:68346387G>A	uc003xxq.4	-	8	1183	c.927C>T	c.(925-927)ttC>ttT	p.F309F	CPA6_uc003xxr.4_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	309					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTTTTCGAAGGAAGTTAGCTA	0.433000														30			15		0	0	0.004990	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427456	27427456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:27427456G>A	uc010eyv.1	-	9	1200	c.878C>T	c.(877-879)tCc>tTc	p.S293F	SLC5A6_uc002rjd.3_Missense_Mutation_p.S293F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	293					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TGCATAACAGGAGCTGCAAAA	0.572000														36			5		0	0	0.000602	0	0
KRT31	3881	broad.mit.edu	37	17	39551875	39551875	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39551875C>T	uc002hwn.3	-	4	642	c.589_splice	c.e4-1	p.E197_splice	KRT31_uc010cxn.3_Splice_Site_p.E197_splice	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	197	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)				GTATTGACCTCCTATGGATGC	0.493000														18			7		0	0	0.001984	0	0
TMTC3	160418	broad.mit.edu	37	12	88588803	88588803	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:88588803C>T	uc001tau.3	+	13	2342	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	709						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTGTTTAATCTGGCTCTCCT	0.423000														24			8		0	0	0.003080	0	0
PDE9A	5152	broad.mit.edu	37	21	44171236	44171237	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:44171236_44171237CC>TT	uc002zbm.3	+	8	727_728	c.664_665CC>TT	c.(664-666)ccc>TTc	p.P222F	PDE9A_uc002zbn.3_Missense_Mutation_p.P95F|PDE9A_uc002zbo.3_Missense_Mutation_p.P169F|PDE9A_uc002zbp.3_Missense_Mutation_p.P15F|PDE9A_uc002zbq.3_Missense_Mutation_p.P120F|PDE9A_uc002zbs.3_Missense_Mutation_p.P15F|PDE9A_uc002zbr.3_Missense_Mutation_p.P15F|PDE9A_uc002zbt.3_Missense_Mutation_p.P94F|PDE9A_uc002zbu.3_Missense_Mutation_p.P88F|PDE9A_uc002zbv.3_Missense_Mutation_p.P62F|PDE9A_uc002zbw.3_Missense_Mutation_p.P5F|PDE9A_uc002zbx.3_Missense_Mutation_p.P162F|PDE9A_uc002zby.3_Missense_Mutation_p.P5F|PDE9A_uc002zbz.3_Missense_Mutation_p.P114F|PDE9A_uc002zca.3_Missense_Mutation_p.P181F|PDE9A_uc002zcb.3_Missense_Mutation_p.P196F|PDE9A_uc002zcc.3_Missense_Mutation_p.P121F|PDE9A_uc002zcd.3_Missense_Mutation_p.P136F|PDE9A_uc002zce.3_Missense_Mutation_p.P155F|PDE9A_uc002zcf.3_Missense_Mutation_p.P15F|PDE9A_uc002zcg.3_Missense_Mutation_p.P15F|PDE9A_uc010gpf.1_Missense_Mutation_p.P15F	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	222					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GACCAACTGCCCCTGTAAGTAC	0.510000														206			10		0	0	0.004672	0	0
KCNF1	3754	broad.mit.edu	37	2	11053632	11053632	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:11053632C>T	uc002rax.3	+	0	1570	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	360						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCCCCAGTCCTTCTGGTGGG	0.582000														29			4		0	0	0.009096	0	0
FERMT1	55612	broad.mit.edu	37	20	6077568	6077568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:6077568C>T	uc002wmr.3	-	7	1859	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	FERMT1_uc002wmq.3_5'Flank|FERMT1_uc010gbt.3_Missense_Mutation_p.G100E|FERMT1_uc002wms.3_Missense_Mutation_p.G357E|FERMT1_uc002wmt.3_Missense_Mutation_p.G100E	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	357	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTCCGCTTTTCCACCTTCTAG	0.413000														150			9		0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237870314	237870314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:237870314G>A	uc001hyl.1	+	67	9766	c.9646G>A	c.(9646-9648)Gaa>Aaa	p.E3216K	RYR2_uc010pxz.1_Missense_Mutation_p.E171K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3216					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	p.I3216I(1)|p.E3214*(1)|p.M3213_E3214>I*(1)		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)			GAAACTCATGGAAGAAATCGT	0.428000														114			9		0	0	0.006214	0	0
MIR1246	100302142	broad.mit.edu	37	2	177465721	177465721	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:177465721G>A	uc021vss.1	-	0		c.60C>T								Homo sapiens microRNA 1246 (MIR1246), microRNA.																		gctagcctatggattgatttc	0.393000														116			11		0	0	0.010729	0	0
T	6862	broad.mit.edu	37	6	166580938	166580938	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:166580938C>G	uc003qut.1	-	0	428	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	T_uc003quu.1_Missense_Mutation_p.E48Q|T_uc003quv.1_Missense_Mutation_p.E48Q	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	48					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGCTCGCTCTCCTCCAGGCCC	0.682000									Chordoma, Familial Clustering of					22			3		0	0	0.000602	0	0
LRP12	29967	broad.mit.edu	37	8	105509935	105509935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:105509935C>T	uc003yma.3	-	4	972	c.845G>A	c.(844-846)gGa>gAa	p.G282E	LRP12_uc003ymb.3_Missense_Mutation_p.G263E|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	282	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAATTGCTTCCAGGAGGATA	0.388000														28			5		0	0	0.000602	0	0
LDB3	11155	broad.mit.edu	37	10	88451783	88451783	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:88451783T>C	uc001kdv.3	+	4	843	c.820T>C	c.(820-822)Tcc>Ccc	p.S274P	LDB3_uc010qml.1_Missense_Mutation_p.S274P|LDB3_uc010qmm.2_Missense_Mutation_p.S342P|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Missense_Mutation_p.S227P|LDB3_uc001kdr.3_Missense_Mutation_p.S227P|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Missense_Mutation_p.S342P|LDB3_uc001kds.3_Missense_Mutation_p.S274P	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	274						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCAGTCTCGCTCCTTCCGCAT	0.617000														29			4		0	0	0.009096	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647802	122647802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:122647802C>T	uc001pyi.4	+	2	646	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	96						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTACCTCCGTCCCACCGGCCC	0.557000														27			7		0	0	0.003080	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181226	19181226	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:19181226G>A	uc001bba.1	-	2	739	c.738C>T	c.(736-738)aaC>aaT	p.N246N		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	246					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCATGTTCTGGTTGGGCTGCA	0.652000														18			5		0	0	0.000602	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:5282926G>A	uc010zqw.2	-	1	923	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_uc010zqx.2_Silent_p.F305F|PROKR2_uc010zqy.2_Silent_p.F305F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)				47			9		0	0	0.004482	0	0
MYO7B	4648	broad.mit.edu	37	2	128335722	128335722	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:128335722C>T	uc002top.3	+	8	917	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	288	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTGCACTTCCTGTGAGGGGC	0.627000														18			3		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196729123	196729123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196729123C>T	uc002utj.4	-	40	7357	c.7256G>A	c.(7255-7257)gGg>gAg	p.G2419E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2419	AAA 4 (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						TGGAATCTCCCCAGCATTTAG	0.418000														31			5		0	0	0.000602	0	0
EXO1	9156	broad.mit.edu	37	1	242016659	242016659	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:242016659G>A	uc021plj.1	+	4	596	c.282_splice	c.e4-1	p.E94_splice	EXO1_uc001hzh.3_Splice_Site_p.E94_splice|EXO1_uc009xgq.3_Splice_Site_p.E94_splice|EXO1_uc021plk.1_Splice_Site_p.E94_splice	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	94	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTCCCTTGCAGAAGACGACAA	0.388000								Editing and processing nucleases						60			17		0	0	0.010504	0	0
NEB	4703	broad.mit.edu	37	2	152484210	152484210	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:152484210T>A	uc021vrb.1	-	63	9270	c.9241A>T	c.(9241-9243)Aag>Tag	p.K3081*	NEB_uc002txu.3_Nonsense_Mutation_p.K3324*|NEB_uc021vrc.1_Nonsense_Mutation_p.K3324*|NEB_uc010fnx.3_Nonsense_Mutation_p.K3069*|NEB_uc021vrd.1_Nonsense_Mutation_p.K3081*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3081					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)		GTCTTCCACTTCTCAAAGTCC	0.507000														238			37		0	0	0.008740	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673247	94673247	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:94673247G>A	uc001tdc.3	+	22	3847	c.3598_splice	c.e22-1	p.A1200_splice	PLXNC1_uc010sut.2_Splice_Site_p.A247_splice|PLXNC1_uc009zsv.3_Splice_Site	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1200					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACTCTTGCAGGCATTAAACG	0.408000														24			4		0	0	0.009096	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713546	222713546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:222713546C>T	uc001hnh.1	-	3	1314	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	419					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACATGTTCCTGATCCCATA	0.612000														503			48		0	0	0.014410	0	0
MARCH11	441061	broad.mit.edu	37	5	16177850	16177850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:16177850C>T	uc003jfo.2	-	1	891	c.678G>A	c.(676-678)atG>atA	p.M226I	BC043001_uc003jfp.3_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	226						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAGGTTGTTTCATTTTAATGG	0.353000														37			12		0	0	0.002450	0	0
HTR5A	3361	broad.mit.edu	37	7	154875961	154875961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:154875961G>A	uc003wlu.1	+	1	902	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	280						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGAGCAGAAGGAGCAGCGGGC	0.627000														34			14		0	0	0.001855	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677345	37677345	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:37677345T>C	uc002ofq.3	-	4	1346	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	ZNF585B_uc002ofr.1_Missense_Mutation_p.Y179C	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	365					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)			CTCTGACCTGTAGGTAAAGGC	0.428000														49			4		0	0	0.004482	0	0
CCDC47	57003	broad.mit.edu	37	17	61829717	61829717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:61829717G>A	uc002jbs.4	-	10	1502	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	CCDC47_uc010ddx.3_Missense_Mutation_p.S389F|CCDC47_uc002jbt.2_Missense_Mutation_p.S389F	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	389						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTTATCAATAGAATAAATCAC	0.418000														90			14		0	0	0.004990	0	0
CCDC93	54520	broad.mit.edu	37	2	118766131	118766131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:118766131G>A	uc002tlj.3	-	1	314	c.146C>T	c.(145-147)cCc>cTc	p.P49L	CCDC93_uc010fld.2_Missense_Mutation_p.P105L	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	49								p.P49S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTGTCAAAGGGTGATAAGCC	0.378000														63			9		0	0	0.008291	0	0
TJP3	27134	broad.mit.edu	37	19	3736275	3736275	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:3736275C>G	uc010xhv.2	+	9	1339	c.1339C>G	c.(1339-1341)Ccg>Gcg	p.P447A	TJP3_uc010xhs.2_Missense_Mutation_p.P414A|TJP3_uc010xht.2_Missense_Mutation_p.P378A|TJP3_uc010xhu.2_Missense_Mutation_p.P423A|TJP3_uc010xhw.2_Missense_Mutation_p.P433A	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	428	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGCAGCCCGGCCGACGG	0.687000														26			4		0	0	0.009096	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043970	71043970	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:71043970C>T	uc002shf.3	-	3	620	c.543G>A	c.(541-543)caG>caA	p.Q181Q	CLEC4F_uc010yqv.1_Silent_p.Q181Q	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	181					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTTGAGCCTCTGGATCTCAG	0.443000														31			7		0	0	0.003080	0	0
SEMA3D	223117	broad.mit.edu	37	7	84642104	84642104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:84642104C>T	uc003uic.3	-	14	1802	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	SEMA3D_uc010led.3_Missense_Mutation_p.E588K|SEMA3D_uc003uib.3_Missense_Mutation_p.E227K	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	588					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.E588K(2)|p.I587I(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTACTGTCTTCGATGTCCCAG	0.383000														52			6		0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126373926	126373926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:126373926C>T	uc003ifj.4	+	8	11755	c.11755C>T	c.(11755-11757)Cca>Tca	p.P3919S	FAT4_uc011cgp.2_Missense_Mutation_p.P2217S|FAT4_uc003ifi.1_Missense_Mutation_p.P1397S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3919	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATTTTCCAGGAAGCTT	0.448000														58			9		0	0	0.010729	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661331	50661331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:50661331G>A	uc001csb.2	+	4	875	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ELAVL4_uc001cry.3_Missense_Mutation_p.E206K|ELAVL4_uc001crz.3_Missense_Mutation_p.E203K|ELAVL4_uc001csa.3_Missense_Mutation_p.E220K|ELAVL4_uc001csc.3_Missense_Mutation_p.E203K|ELAVL4_uc009vyu.3_Missense_Mutation_p.E208K|ELAVL4_uc010omz.2_Missense_Mutation_p.E208K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	203	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.T202T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CGGTGCTACGGAACCGATTAC	0.582000														68			7		0	0	0.001984	0	0
TDRD5	163589	broad.mit.edu	37	1	179609006	179609006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179609006G>A	uc010pnp.2	+	9	2071	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	TDRD5_uc021pfm.1_Missense_Mutation_p.R518Q|TDRD5_uc001gnf.2_Missense_Mutation_p.R518Q|TDRD5_uc021pfn.1_Missense_Mutation_p.R518Q|TDRD5_uc001gnh.2_Missense_Mutation_p.R73Q	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	518					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						GTTTCTGATCGATATGTCATG	0.383000														100			6		0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167056193	167056193	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:167056193G>A	uc010fpl.3	-	26	5264	c.4923C>T	c.(4921-4923)ttC>ttT	p.F1641F	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1652						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACATGACCAGGAAGAGCAGGA	0.448000														57			7		0	0	0.004482	0	0
NBEAL1	65065	broad.mit.edu	37	2	203980710	203980710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:203980710C>T	uc002uzt.3	+	16	2755	c.2422C>T	c.(2422-2424)Cca>Tca	p.P808S		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	808							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						ATTTTCAGGTCCAAATTGTTT	0.373000														270			21		0	0	0.002780	0	0
SMG7	9887	broad.mit.edu	37	1	183515121	183515121	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:183515121C>T	uc001gqg.3	+	16	2641	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	SMG7_uc010pob.2_Silent_p.S780S|SMG7_uc021pga.1_Silent_p.S709S|SMG7_uc001gqf.3_Silent_p.S751S|SMG7_uc001gqh.3_Silent_p.S751S|SMG7_uc010poc.2_Silent_p.S755S	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	797	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAGATGCCTCCAAACAGCTGT	0.418000														60			6		0	0	0.001168	0	0
FLG2	388698	broad.mit.edu	37	1	152329352	152329352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152329352C>T	uc001ezw.4	-	2	983	c.910G>A	c.(910-912)Gga>Aga	p.G304R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	304	Ser-rich.						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)			CCTTGCCCTCCAAATCTATGT	0.483000														131			10		0	0	0.010729	0	0
GON4L	54856	broad.mit.edu	37	1	155774905	155774905	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:155774905G>A	uc001flz.2	-	10	1577	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	GON4L_uc001fly.1_Nonsense_Mutation_p.R494*|GON4L_uc009wrh.1_Nonsense_Mutation_p.R494*|GON4L_uc001fma.1_Nonsense_Mutation_p.R494*|GON4L_uc001fmc.3_Nonsense_Mutation_p.R494*|GON4L_uc001fmd.4_Nonsense_Mutation_p.R494*|GON4L_uc009wri.3_Nonsense_Mutation_p.R80*|GON4L_uc009wrj.2_Nonsense_Mutation_p.R9*|GON4L_uc001fme.3_Nonsense_Mutation_p.R322*|GON4L_uc001fmf.3_Nonsense_Mutation_p.R188*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	494					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAACGCGTTCGAAATGCAATG	0.468000														47			7		0	0	0.003080	0	0
TADA2B	93624	broad.mit.edu	37	4	7056555	7056555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:7056555C>T	uc003gjw.4	+	1	1188	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	TADA2B_uc010idi.3_Missense_Mutation_p.P271L|TADA2B_uc021xle.1_Missense_Mutation_p.P254L	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGAACCTTCCAGGCTTCGAG	0.512000														55			18		0	0	0.007413	0	0
MTTP	4547	broad.mit.edu	37	4	100512405	100512405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:100512405G>A	uc011cej.2	+	4	609	c.596G>A	c.(595-597)gGa>gAa	p.G199E	MTTP_uc003hvc.4_Missense_Mutation_p.G172E	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	172	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATATCTCTGGAAATTGTAAA	0.413000														42			16		0	0	0.004990	0	0
TRPM6	140803	broad.mit.edu	37	9	77457121	77457121	+	Silent	SNP	C	T	T	rs141159434	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:77457121C>T	uc004ajl.1	-	3	529	c.291G>A	c.(289-291)acG>acA	p.T97T	TRPM6_uc004ajk.1_Silent_p.T92T|TRPM6_uc022bib.1_Silent_p.T92T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.T97T|TRPM6_uc010mpd.1_Silent_p.T97T|TRPM6_uc010mpe.1_Silent_p.T97T|TRPM6_uc004ajn.1_Silent_p.T97T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	97					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAAATTAATCGTGCCAAAAG	0.398000														56			7		0	0	0.004482	0	0
LRCH1	23143	broad.mit.edu	37	13	47315891	47315891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:47315891C>T	uc001vbk.3	+	19	2436	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	LRCH1_uc001vbj.3_Missense_Mutation_p.R699C|LRCH1_uc001vbl.4_Intron|LRCH1_uc021rjj.1_Non-coding_Transcript	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	699										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTGCCCTCCGCTCCAGGGA	0.498000														251			22		0	0	0.014323	0	0
KRT2	3849	broad.mit.edu	37	12	53045717	53045717	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:53045717C>T	uc001sat.3	-	0	243	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	70	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGAGATGCTCTTGGTCCCTC	0.622000														32			5		0	0	0.001168	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017164	52017164	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:52017164A>C	uc002abi.3	-	1	929	c.428T>G	c.(427-429)tTt>tGt	p.F143C	LYSMD2_uc002abj.3_Missense_Mutation_p.F52C	NM_153374	NP_001137389	Q8IV50	LYSM2_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 2 (LYSMD2), transcript variant 1, mRNA.	143					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		TTCCTGAGAAAAACTGTTATC	0.463000														112			10		0	0	0.006214	0	0
TTC29	83894	broad.mit.edu	37	4	147741282	147741282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:147741282C>T	uc003ikx.4	-	10	1424	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TTC29_uc003ikw.4_Missense_Mutation_p.E366K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E366K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	366							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCACTTTTTCATTGTAGATG	0.328000														103			12		0	0	0.003163	0	0
ARAP1	116985	broad.mit.edu	37	11	72404460	72404460	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:72404460G>A	uc001osu.3	-	28	4053	c.3864C>T	c.(3862-3864)agC>agT	p.S1288S	ARAP1_uc001osv.3_Silent_p.S1288S|ARAP1_uc001osr.3_Silent_p.S1048S|ARAP1_uc001oss.3_Silent_p.S1043S|ARAP1_uc009yth.3_Silent_p.S982S|ARAP1_uc010rre.2_Silent_p.S1043S|BC150585_uc009yti.1_Non-coding_Transcript	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1288	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCCCAGGAGGCTGCGGTCCT	0.637000														348			33		0	0	0.006999	0	0
KCNK16	83795	broad.mit.edu	37	6	39285722	39285722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:39285722C>T	uc003oor.4	-	2	349	c.335G>A	c.(334-336)gGg>gAg	p.G112E	KCNK16_uc003ooq.3_Missense_Mutation_p.G112E|KCNK16_uc010jwy.3_Missense_Mutation_p.G112E|KCNK16_uc011dtz.1_Missense_Mutation_p.G112E	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	112						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGCCAGGTTCCCATATCCTGC	0.562000														34			7		0	0	0.003080	0	0
NUP214	8021	broad.mit.edu	37	9	134067664	134067664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:134067664C>T	uc004cag.3	+	26	3755	c.3644C>T	c.(3643-3645)tCa>tTa	p.S1215L	NUP214_uc004cah.3_Missense_Mutation_p.S1205L|NUP214_uc004cai.3_Missense_Mutation_p.S645L|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.S41L|NUP214_uc010mzf.3_Missense_Mutation_p.S513L|NUP214_uc011mcf.1_Intron|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1215	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCTTTCTCATTTTCTCCA	0.338000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									36			7		0	0	0.001984	0	0
TERT	7015	broad.mit.edu	37	5	1255502	1255502	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:1255502G>A	uc003jcb.1	-	13	3115	c.3057C>T	c.(3055-3057)ctC>ctT	p.L1019L	TERT_uc003jbz.1_Silent_p.L215L|TERT_uc003jcc.1_Silent_p.L956L|TERT_uc003jca.1_Silent_p.L1007L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P82S|TERT_uc021xwb.1_Silent_p.L171L	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1019	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATGAAATGGGAGCTGCAGCA	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					25			8		0	0	0.006214	0	0
BSND	7809	broad.mit.edu	37	1	55464876	55464876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55464876C>T	uc001cye.3	+	0	260	c.17C>T	c.(16-18)aCc>aTc	p.T6I		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	6						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GACGAGAAGACCTTCCGGATC	0.617000														80			6		0	0	0.003080	0	0
LOC649330	649330	broad.mit.edu	37	1	12907304	12907304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12907304C>T	uc010obf.2	-	1	1065	c.839G>A	c.(838-840)gGa>gAa	p.G280E	LOC649330_uc009vno.2_Missense_Mutation_p.G280E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	280							nucleic acid binding|nucleotide binding										GTCATCCTCTCCTTCCTCAGC	0.478000														186			23		0	0	0.005443	0	0
EGFR	1956	broad.mit.edu	37	7	55238901	55238901	+	Silent	SNP	G	A	A	rs146783627	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:55238901G>A	uc003tqk.3	+	15	2160	c.1914G>A	c.(1912-1914)acG>acA	p.T638T	EGFR_uc022adm.1_Silent_p.T638T|EGFR_uc010kzg.2_Silent_p.T593T|EGFR_uc022adn.1_Silent_p.T593T|EGFR_uc011kco.2_Silent_p.T585T|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	638					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			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)	GCTGTCCAACGAATGGGTAAG	0.443000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				54			11		0	0	0.013537	0	0
BAI1	575	broad.mit.edu	37	8	143569733	143569733	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:143569733A>G	uc003ywm.3	+	12	2500	c.2317A>G	c.(2317-2319)Atc>Gtc	p.I773V		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	773					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGTTCTCAGCATCCATAAGCT	0.637000														66			26		0	0	0.008361	0	0
AOAH	313	broad.mit.edu	37	7	36677509	36677509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:36677509C>T	uc022abu.1	-	4	799	c.398G>A	c.(397-399)tGg>tAg	p.W133*	AOAH_uc003tfh.4_Nonsense_Mutation_p.W133*|AOAH_uc011kba.2_Nonsense_Mutation_p.W101*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	133					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						TGTAAATTTCCATGTCTCCTA	0.363000														22			4		0	0	0.009096	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324378	79324378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:79324378C>T	uc010mpk.3	-	7	2936	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	PRUNE2_uc022bih.1_Missense_Mutation_p.E760K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	938					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGAATCTTCCCAAGGAACT	0.423000														155			20		0	0	0.008871	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533816	24533816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24533816G>A	uc003nef.3	+	10	1551	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	ALDH5A1_uc003neg.3_Missense_Mutation_p.G495E	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	495					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTCAACGAAGGATTAATTTCC	0.512000														85			10		0	0	0.008291	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601349	46601349	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:46601349G>A	uc009zkj.1	-	6	1129	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC38A1_uc001rpb.3_Silent_p.F148F|SLC38A1_uc001rpc.3_Silent_p.F148F|SLC38A1_uc001rpd.3_Silent_p.F148F|SLC38A1_uc001rpe.3_Silent_p.F148F|SLC38A1_uc010slh.2_Silent_p.F121F|SLC38A1_uc001rpa.3_Silent_p.F148F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	148					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAAGATTACGAACTTCCCTG	0.413000														75			13		0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	90040908	90040908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:90040908G>A	uc003kju.3	+	50	10691	c.10595G>A	c.(10594-10596)tGg>tAg	p.W3532*	GPR98_uc003kjt.3_Nonsense_Mutation_p.W1238*|GPR98_uc003kjv.3_Nonsense_Mutation_p.W1132*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3532					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)		CTTTACTGCTGGAATTCGGAG	0.398000														230			27		0	0	0.012213	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601692	64601692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:64601692C>T	uc003dmg.3	-	19	3000	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.E962K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E819K|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E990K|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	990	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R989S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGCATTTTTCACGGTTGCTT	0.488000														381			33		0	0	0.003755	0	0
CEP250	11190	broad.mit.edu	37	20	34095871	34095871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:34095871G>A	uc021wco.1	+	31	7405	c.6758G>A	c.(6757-6759)gGa>gAa	p.G2253E	CEP250_uc010zve.2_Missense_Mutation_p.G1621E	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2253					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGGTCTCAGGAGTGGAGGCT	0.552000														117			28		0	0	0.010818	0	0
ALPK1	80216	broad.mit.edu	37	4	113303585	113303585	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:113303585C>T	uc003ian.4	+	3	380	c.153C>T	c.(151-153)atC>atT	p.I51I	ALPK1_uc003iam.3_Silent_p.I51I|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Silent_p.I51I|ALPK1_uc011cfx.2_Intron|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	51							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGACCCTGATCCAGGAGGCAA	0.478000														17			10		0	0	0.006214	0	0
USP44	84101	broad.mit.edu	37	12	95927347	95927347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:95927347G>A	uc001teg.3	-	1	830	c.686C>T	c.(685-687)tCt>tTt	p.S229F	USP44_uc001teh.3_Missense_Mutation_p.S229F|USP44_uc009zte.3_Missense_Mutation_p.S226F	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	229					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CACCTGAACAGAAACTATTTC	0.403000														43			7		0	0	0.003080	0	0
EPHA3	2042	broad.mit.edu	37	3	89498473	89498473	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:89498473G>A	uc003dqy.3	+	13	2670	c.2445G>A	c.(2443-2445)tgG>tgA	p.W815*	EPHA3_uc021xbf.1_Nonsense_Mutation_p.W815*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	815	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGTTCTCTGGGAGGTGATGT	0.463000										TSP Lung(6;0.00050)				70			6		0	0	0.001984	0	0
DST	667	broad.mit.edu	37	6	56374636	56374636	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:56374636C>T	uc003pcy.4	-	54	11055	c.10947G>A	c.(10945-10947)ctG>ctA	p.L3649L		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6061					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGATGCGTTCCAGGCTCTCAA	0.413000														40			7		0	0	0.004482	0	0
NSUN5	55695	broad.mit.edu	37	7	72718364	72718364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72718364G>A	uc003txw.3	-	6	874	c.797C>T	c.(796-798)tCc>tTc	p.S266F	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.S266F|NSUN5_uc003txv.3_Missense_Mutation_p.S266F|NSUN5_uc003txx.3_Missense_Mutation_p.S228F	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	266							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CGTGGCCATGGATGCCAGCCG	0.627000														36			7		0	0	0.003080	0	0
SDK1	221935	broad.mit.edu	37	7	4215446	4215446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:4215446C>T	uc003smx.3	+	33	5115	c.4976C>T	c.(4975-4977)tCg>tTg	p.S1659L	SDK1_uc010kso.3_Intron|SDK1_uc003smy.3_Missense_Mutation_p.S146L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1659	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCTCCACATCGACGATGTGT	0.587000														59			6		0	0	0.001984	0	0
LRRC15	131578	broad.mit.edu	37	3	194080084	194080084	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:194080084G>A	uc003ftt.3	-	2	1832	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LRRC15_uc003ftu.3_Silent_p.C563C|LRRC15_uc021xiy.1_Silent_p.C563C	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	563						integral to membrane		p.S568I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCTTCTTGCAGCAGCAACAGC	0.617000														61			10		0	0	0.010729	0	0
DNAH17	8632	broad.mit.edu	37	17	76506586	76506586	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:76506586C>T	uc010dhp.2	-	26	4241	c.4116G>A	c.(4114-4116)gtG>gtA	p.V1372V		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)			TTTTAAATTTCACCTAAGGGA	0.507000														35			21		0	0	0.014323	0	0
LONRF3	79836	broad.mit.edu	37	X	118148314	118148314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:118148314C>T	uc004eqw.3	+	9	2150	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	LONRF3_uc004eqx.3_Missense_Mutation_p.P666S|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.P451S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	707	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGACGCCGATCCTCAGGTATA	0.433000														31			4		0	0	0.009096	0	0
DNAJC11	55735	broad.mit.edu	37	1	6705993	6705993	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:6705993G>A	uc001aof.2	-	7	856	c.750C>T	c.(748-750)atC>atT	p.I250I	DNAJC11_uc001aog.2_Silent_p.I250I|DNAJC11_uc010nzu.1_Silent_p.I160I	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	250					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGGGTCGGATTCCACGGG	0.542000														81			19		0	0	0.010504	0	0
MECOM	2122	broad.mit.edu	37	3	168834404	168834404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:168834404G>A	uc011bpj.1	-	7	1659	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	MECOM_uc010hwk.1_Missense_Mutation_p.S254F|MECOM_uc003ffj.3_Missense_Mutation_p.S296F|MECOM_uc003ffi.3_Missense_Mutation_p.S231F|MECOM_uc011bpi.1_Missense_Mutation_p.S232F|MECOM_uc003ffn.3_Missense_Mutation_p.S231F|MECOM_uc003ffk.2_Missense_Mutation_p.S231F|MECOM_uc003ffl.2_Missense_Mutation_p.S391F|MECOM_uc011bpk.1_Missense_Mutation_p.S231F|MECOM_uc010hwn.2_Missense_Mutation_p.S419F	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						TTTATTTAAGGAAGACGTAGT	0.453000														65			9		0	0	0.010729	0	0
CR1	1378	broad.mit.edu	37	1	207789980	207789980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:207789980G>A	uc001hfy.3	+	32	5512	c.5372G>A	c.(5371-5373)gGa>gAa	p.G1791E	CR1_uc001hfx.3_Missense_Mutation_p.G2241E|CR1_uc021pij.1_Missense_Mutation_p.G1791E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1791	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTCCCTTTGGAGATATTCCC	0.438000														102			8		0	0	0.008291	0	0
IL27RA	9466	broad.mit.edu	37	19	14157400	14157400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:14157400C>T	uc002mxx.3	+	7	1534	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	371	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGTCCGGCTTCCCCCTGGGAA	0.622000														52			5		0	0	0.000602	0	0
PTPN6	5777	broad.mit.edu	37	12	7067172	7067172	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:7067172C>T	uc001qsb.2	+	10	1539	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTPN6_uc001qsa.1_Silent_p.L435L|PTPN6_uc010sfr.1_Silent_p.L394L|PTPN6_uc009zfl.1_Silent_p.L433L|PTPN6_uc010sfs.1_Silent_p.L421L	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	433	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTCAGCTTCCTGGACCAGAT	0.587000														40			4		0	0	0.000602	0	0
KIAA0430	9665	broad.mit.edu	37	16	15730019	15730019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:15730019G>A	uc002ddr.3	-	2	532	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	KIAA0430_uc002ddq.3_Missense_Mutation_p.P108S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P109S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P109S|KIAA0430_uc010uzx.2_Missense_Mutation_p.P108S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	108						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GAAGTGGAGGGTTCATTAGGG	0.527000														59			15		0	0	0.006122	0	0
RPSAP52	204010	broad.mit.edu	37	12	66151955	66151955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:66151955G>A	uc001sso.3	-	1	989	c.568C>T	c.(568-570)Cca>Tca	p.P190S						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		TGGAGCTGTGGACCAGTCTTC	0.507000														7			3		0	0	0.004672	0	0
OR4X2	119764	broad.mit.edu	37	11	48267270	48267270	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:48267270C>T	uc001ngs.1	+	0	615	c.615C>T	c.(613-615)gtC>gtT	p.V205V		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTTTGGGGTCCTCTTAGCAT	0.527000														70			13		0	0	0.013537	0	0
LIPI	149998	broad.mit.edu	37	21	15524928	15524928	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:15524928G>A	uc002yjm.3	-	7	1157	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Nonsense_Mutation_p.Q332*|LIPI_uc021whh.1_Nonsense_Mutation_p.Q356*|LIPI_uc021whi.1_Nonsense_Mutation_p.Q197*|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Nonsense_Mutation_p.Q327*|LIPI_uc021whf.1_Nonsense_Mutation_p.Q362*	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	362					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTCCAAGCTGATTTAATAAT	0.284000														28			4		0	0	0.000602	0	0
BUD13	84811	broad.mit.edu	37	11	116633693	116633693	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:116633693C>A	uc001ppn.3	-	3	646	c.612G>T	c.(610-612)agG>agT	p.R204S	BUD13_uc001ppo.3_Missense_Mutation_p.R204S|BUD13_uc009yzc.3_Missense_Mutation_p.R204S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	204	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GCTGAGGCCTCCTTGGGGGAG	0.552000														229			53		1.83081e-24	1.90989e-24	0.014410	1	0
SERPINB11	89778	broad.mit.edu	37	18	61390410	61390410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:61390410G>A	uc002ljk.4	+	8	1124	c.953G>A	c.(952-954)gGa>gAa	p.G318E	SERPINB11_uc010xes.2_Missense_Mutation_p.G144E|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.G205E|SERPINB11_uc010dqe.3_Missense_Mutation_p.G118E|SERPINB11_uc010dqf.3_Missense_Mutation_p.G117E	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	319					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GATCTTTCTGGAATGTCACCA	0.478000														13			5		0	0	0.000602	0	0
ZFR	51663	broad.mit.edu	37	5	32388652	32388652	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:32388652G>A	uc003jhr.1	-	12	2351	c.2271C>T	c.(2269-2271)ctC>ctT	p.L757L	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	757					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TGTCTGAAACGAGTTTTAAAG	0.373000														57			6		0	0	0.001168	0	0
TNR	7143	broad.mit.edu	37	1	175355315	175355315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:175355315C>T	uc001gkp.1	-	5	1711	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	TNR_uc009wwu.1_Missense_Mutation_p.E544K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	544	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCCACCTTCCCCGCCCACC	0.597000														18			9		0	0	0.004482	0	0
RRP9	9136	broad.mit.edu	37	3	51967753	51967753	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:51967753G>A	uc003dbw.1	-	13	1344	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	435					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CAGCCACCAGGAAGTCCCCAG	0.587000														100			24		0	0	0.005443	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647056	79647056	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:79647056C>T	uc010jaj.1	-	0		c.730G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		CTGTCACCTTCTGGAATACTT	0.463000														16			9		0	0	0.006214	0	0
ATP9A	10079	broad.mit.edu	37	20	50305663	50305663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:50305663G>A	uc002xwg.1	-	8	739	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	247					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						TCGCTGATCGGGGGGTCGCTG	0.557000														96			32		0	0	0.013726	0	0
C1orf168	199920	broad.mit.edu	37	1	57202773	57202773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:57202773C>T	uc001cym.4	-	14	2186	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	594										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GACTCTTTTTCACTCAGGTCT	0.328000														32			4		0	0	0.001168	0	0
FZD6	8323	broad.mit.edu	37	8	104340629	104340629	+	Missense_Mutation	SNP	G	A	A	rs143405641		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:104340629G>A	uc003ylh.3	+	4	1816	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FZD6_uc011lhn.2_Missense_Mutation_p.R477Q|FZD6_uc003ylj.3_Missense_Mutation_p.R509Q|FZD6_uc011lho.2_Missense_Mutation_p.R204Q|FZD6_uc011lhp.2_Missense_Mutation_p.R454Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	509					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTTTTAAACGAAATCGCAAG	0.338000														28			6		0	0	0.003080	0	0
JAK1	3716	broad.mit.edu	37	1	65332753	65332753	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:65332753G>A	uc001dbu.1	-	6	1035	c.786C>T	c.(784-786)tcC>tcT	p.S262S	JAK1_uc009wam.1_Silent_p.S262S	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	262	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGTCATGCGTGGACACGCTGC	0.403000			Mis		ALL									88			22		0	0	0.002780	0	0
PRKCB	5579	broad.mit.edu	37	16	24166021	24166021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24166021G>A	uc002dmd.3	+	9	1279	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	PRKCB_uc002dme.3_Missense_Mutation_p.R361Q	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	361	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTTTCAGAACGAAAAGGCACA	0.507000														27			10		0	0	0.010729	0	0
MYO9A	4649	broad.mit.edu	37	15	72189838	72189838	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:72189838A>G	uc002atl.4	-	24	5479	c.5006T>C	c.(5005-5007)aTt>aCt	p.I1669T	MYO9A_uc010biq.3_Missense_Mutation_p.I1289T|MYO9A_uc002atn.1_Missense_Mutation_p.I1650T|MYO9A_uc002atk.3_Missense_Mutation_p.I393T|MYO9A_uc002atm.1_Missense_Mutation_p.I393T	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1669	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						AGTGAAGAAAATGGGCCTAGC	0.373000														61			10		0	0	0.006214	0	0
MTRR	4552	broad.mit.edu	37	5	7878144	7878144	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:7878144A>G	uc003jed.3	+	4	600	c.570A>G	c.(568-570)atA>atG	p.I190M	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.I163M|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	190					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AAGAGGAGATAAGTGGCGCAC	0.507000														22			3		0	0	0.004672	0	0
MAOB	4129	broad.mit.edu	37	X	43634452	43634452	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:43634452A>G	uc004dfz.4	-	11	1381	c.1205T>C	c.(1204-1206)tTc>tCc	p.F402S	MAOB_uc011mkx.2_Intron|MAOB_uc011mky.2_Missense_Mutation_p.F386S	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	402					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CCCAGGGGGGAAATAAGTTGT	0.448000														4			5		0	0	0.001168	0	0
NME8	51314	broad.mit.edu	37	7	37936490	37936490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:37936490G>A	uc003tfn.3	+	16	1935	c.1563G>A	c.(1561-1563)atG>atA	p.M521I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	521	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTATGGTCATGATTCTGACCA	0.488000														64			26		0	0	0.010818	0	0
FTL	2512	broad.mit.edu	37	19	49469913	49469913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:49469913C>T	uc002plo.3	+	3	648	c.449C>T	c.(448-450)aCc>aTc	p.T150I	FTL_uc002pln.1_3'UTR	NM_000146	NP_000137	P02792	FRIL_HUMAN	Homo sapiens ferritin, light polypeptide (FTL), mRNA.	150	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	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;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GACCACCTGACCAACCTCCAC	0.542000														92			21		0	0	0.012319	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271853	28271853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:28271853C>T	uc001bpg.3	+	1	363	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	SMPDL3B_uc001bpf.3_Missense_Mutation_p.P58S|SMPDL3B_uc010ofq.2_5'UTR|SMPDL3B_uc010ofr.2_Missense_Mutation_p.P58S	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	58					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CGACGCAGGCCCCTGGGGTGA	0.577000														34			12		0	0	0.002450	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517988	138517988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:138517988C>T	uc010nbd.1	-	3	438	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	62					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.F61F(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCCGCCTGTCGAAAGTCCCT	0.507000														41			7		0	0	0.001984	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764281	138764281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:138764281G>A	uc003vun.3	-	3	1794	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.S469F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	469					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACATCTCGGGAAGCAGGTCC	0.463000														75			11		0	0	0.010729	0	0
A2M	2	broad.mit.edu	37	12	9264775	9264775	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:9264775A>T	uc001qvk.1	-	3	576	c.463T>A	c.(463-465)Ttt>Att	p.F155I	A2M_uc009zgk.1_Missense_Mutation_p.F5I	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	155					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGGGGTGAAAGTTTTCATCC	0.408000														39			12		0	0	0.001855	0	0
PIK3R4	30849	broad.mit.edu	37	3	130449249	130449249	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:130449249G>A	uc003enj.3	-	4	2069	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	496					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTAATTCCAGGAATCTCAGAG	0.303000														40			8		0	0	0.006214	0	0
RBM28	55131	broad.mit.edu	37	7	127953234	127953234	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:127953234G>A	uc003vmp.2	-	17	2254	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	RBM28_uc011koj.1_Silent_p.S572S	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	713					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCACCTGCTCGGACGATAATT	0.473000														73			19		0	0	0.008871	0	0
PRKACG	5568	broad.mit.edu	37	9	71629038	71629038	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:71629038C>T	uc004agy.3	-	1	1	c.-30_splice	c.e1-1			NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						gcgggggtctcgcggcggcgg	0.756000														5			3		0	0	0.004672	0	0
ANK3	288	broad.mit.edu	37	10	61828894	61828894	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:61828894C>T	uc001jky.3	-	36	12083	c.11745G>A	c.(11743-11745)gtG>gtA	p.V3915V	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3915					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						GTGTGTTTTTCACTGGAATTC	0.418000														138			17		0	0	0.004007	0	0
GART	2618	broad.mit.edu	37	21	34889714	34889714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:34889714G>A	uc002yrz.3	-	14	2215	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	GART_uc002yrx.3_Missense_Mutation_p.S635F|GART_uc010gmd.3_Missense_Mutation_p.S297F|GART_uc002yry.3_Missense_Mutation_p.S635F	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	635	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTACTGGAGGGAAGATTTTGC	0.458000														71			9		0	0	0.006214	0	0
C3orf72	401089	broad.mit.edu	37	3	138668410	138668410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:138668410G>A	uc003esx.1	+	1	280	c.149G>A	c.(148-150)gGa>gAa	p.G50E	FOXL2_uc003esw.3_5'Flank|AK304483_uc011bmr.2_5'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	50										large_intestine(1)|lung(3)	4						TGCACCCTGGGAAGGGCTGGA	0.542000														20			9		0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413730	110413730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:110413730G>A	uc003yne.3	+	13	1390	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	429					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTAGGTGAGGATTGCATAT	0.323000										HNSCC(38;0.096)				17			16		0	0	0.012319	0	0
CA2	760	broad.mit.edu	37	8	86389390	86389390	+	Silent	SNP	C	T	T	rs151021025	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:86389390C>T	uc003ydk.2	+	5	729	c.549C>T	c.(547-549)ctC>ctT	p.L183L	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	183					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTCGTGGCCTCCTTCCTGAAT	0.507000														143			55		0	0	0.014410	0	0
GPR139	124274	broad.mit.edu	37	16	20043735	20043735	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20043735G>A	uc002dgu.1	-	1	546	c.384C>T	c.(382-384)atC>atT	p.I128I	GPR139_uc010vaw.1_Silent_p.I35I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	128						integral to membrane|plasma membrane		p.I128N(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507000														88			12		0	0	0.010729	0	0
ZNF610	162963	broad.mit.edu	37	19	52857608	52857608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52857608G>A	uc002pyx.4	+	4	701	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ZNF610_uc002pyy.4_Missense_Mutation_p.E99K|ZNF610_uc002pyz.4_Intron|ZNF610_uc002pza.3_Missense_Mutation_p.E99K	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R98R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGATGGAAGGGAATGTGTCAG	0.408000														17			5		0	0	0.001168	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003401	52003401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52003401C>T	uc002pwx.1	-	1	637	c.581G>A	c.(580-582)gGg>gAg	p.G194E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G76E|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	194	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATATCGGCCCCTTCCTTGAA	0.547000														81			13		0	0	0.002450	0	0
ADCY8	114	broad.mit.edu	37	8	131949419	131949419	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:131949419G>A	uc003ytd.4	-	4	1637	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	ADCY8_uc010mds.3_Silent_p.L461L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	461					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)			CAGTCCCCCAGGATTTTAATA	0.502000										HNSCC(32;0.087)				26			9		0	0	0.004482	0	0
PDE6A	5145	broad.mit.edu	37	5	149276290	149276290	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:149276290T>G	uc003lrg.4	-	10	1577	c.1457A>C	c.(1456-1458)gAg>gCg	p.E486A	PDE6A_uc021yfs.1_Missense_Mutation_p.E405A	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	486					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCAGCCAGCTCCTCTTCCTC	0.532000														107			15		0	0	0.004007	0	0
ANO5	203859	broad.mit.edu	37	11	22261116	22261116	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:22261116G>A	uc001mqi.2	+	9	1080	c.763_splice	c.e9-1	p.G255_splice	ANO5_uc001mqj.2_Splice_Site_p.G254_splice	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	255						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATCTGCAGGGCCAATATTGG	0.408000														83			29		0	0	0.009535	0	0
RP1	6101	broad.mit.edu	37	8	55539144	55539144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:55539144C>T	uc003xsd.1	+	3	2850	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	901					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)			TTGAAAAAACCTGATTTTCCT	0.333000														20			10		0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82388013	82388013	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:82388013C>A	uc003uhx.2	-	24	15596	c.15307G>T	c.(15307-15309)Gga>Tga	p.G5103*		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5026					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						AACTTCCCTCCATTGGAGAAA	0.313000														42			21		7.41877e-09	7.72348e-09	0.012319	1	0
PARVG	64098	broad.mit.edu	37	22	44585031	44585031	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:44585031C>T	uc011aqe.2	+	5	709	c.285C>T	c.(283-285)atC>atT	p.I95I	PARVG_uc003bep.3_Silent_p.I95I|PARVG_uc011aqf.2_Silent_p.I95I|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	95	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CAGAGGACATCGCCCTGACAG	0.652000														61			9		0	0	0.006214	0	0
C10orf2	56652	broad.mit.edu	37	10	102748840	102748840	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:102748840C>T	uc001ksf.2	+	0	1548	c.873C>T	c.(871-873)ccC>ccT	p.P291P	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Silent_p.P291P|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	291					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGCTTACCCCCTGCCTTAC	0.577000														120			11		0	0	0.001855	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713399	46713399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:46713399G>A	uc003cqa.2	-	23	2852	c.2659C>T	c.(2659-2661)Ctc>Ttc	p.L887F	ALS2CL_uc003cpx.2_Missense_Mutation_p.L234F|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.L402F|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.L887F	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	887	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACGTAGATGAGAAGTGGCAGC	0.632000														26			4		0	0	0.009096	0	0
CD48	962	broad.mit.edu	37	1	160654855	160654855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:160654855C>T	uc001fwo.1	-	1	239	c.207G>A	c.(205-207)tgG>tgA	p.W69*	CD48_uc001fwn.3_Nonsense_Mutation_p.W69*|CD48_uc001fwp.3_Nonsense_Mutation_p.W69*	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	69	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGGAATCCCATTCTACAA	0.443000														47			15		0	0	0.003163	0	0
NOL4	8715	broad.mit.edu	37	18	31685048	31685048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:31685048C>T	uc010dmi.3	-	2	789	c.491G>A	c.(490-492)aGa>aAa	p.R164K	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Missense_Mutation_p.R90K|NOL4_uc010dmh.3_Missense_Mutation_p.R90K|NOL4_uc010xbu.2_Missense_Mutation_p.R164K|NOL4_uc002kxt.4_Missense_Mutation_p.R164K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	164						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAATGCATTCTTTTCTGGCA	0.383000														53			5		0	0	0.001168	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16876498	16876498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:16876498C>T	uc010rcu.1	-	5	475	c.460G>A	c.(460-462)Gac>Aac	p.D154N	PLEKHA7_uc001mmo.3_Missense_Mutation_p.D154N	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	154					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGGCCTGGTCTCTCTTCCCA	0.498000														46			19		0	0	0.012319	0	0
PHF3	23469	broad.mit.edu	37	6	64422952	64422952	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:64422952T>G	uc003pep.1	+	14	5493	c.5468T>G	c.(5467-5469)tTt>tGt	p.F1823C	PHF3_uc003pen.2_Missense_Mutation_p.F1735C|PHF3_uc011dxs.1_Missense_Mutation_p.F1092C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1823	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.F1823F(1)|p.N1822S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCTCCTAATTTTCCCCCACAA	0.502000														111			14		0	0	0.004007	0	0
YBX1	4904	broad.mit.edu	37	1	43162381	43162382	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:43162381_43162382CC>TT	uc001chs.3	+	4	594_595	c.423_424CC>TT	c.(421-426)gaccgt>gaTTgt	p.R142C		NM_004559	NP_004550	P67809	YBOX1_HUMAN	Homo sapiens Y box binding protein 1 (YBX1), mRNA.	142					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|U12-type spliceosomal complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule	RNA binding|double-stranded DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCAGCAGACCGTAACCATTA	0.470000														76			7		0	0	0.004672	0	0
STON2	85439	broad.mit.edu	37	14	81744852	81744852	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:81744852T>A	uc010tvu.2	-	3	1001	c.803A>T	c.(802-804)aAt>aTt	p.N268I	STON2_uc001xvk.1_Missense_Mutation_p.N268I|STON2_uc010tvt.2_Missense_Mutation_p.N65I	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	268					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.N268S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCCCATTGAATTATAAGGTAC	0.448000														79			18		0	0	0.007413	0	0
SCAF4	57466	broad.mit.edu	37	21	33060763	33060763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:33060763G>A	uc002ypd.2	-	15	2326	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S	SCAF4_uc002ype.2_Missense_Mutation_p.P634S|SCAF4_uc010glu.2_Missense_Mutation_p.P619S|SCAF4_uc002ypf.1_Missense_Mutation_p.P308S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	634						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCTTCTTAGGAATTCCTTTC	0.363000														81			6		0	0	0.003080	0	0
PRB1	5542	broad.mit.edu	37	12	11506846	11506846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:11506846C>T	uc001qzw.1	-	2	228	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRB1_uc001qzu.1_Missense_Mutation_p.G64E|PRB1_uc001qzv.1_Missense_Mutation_p.G64E	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	64	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTGTTGCCTCCTTGTGGGGG	0.607000														201			13		0	0	0.001855	0	0
JARID2	3720	broad.mit.edu	37	6	15517407	15517407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:15517407G>A	uc003nbj.3	+	16	3710	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	JARID2_uc011div.2_Missense_Mutation_p.E984K	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1156					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)				ACAAGAGAACGAAAACGTCGT	0.602000														34			12		0	0	0.010729	0	0
CSE1L	1434	broad.mit.edu	37	20	47688928	47688928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47688928C>T	uc002xty.3	+	8	1008	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	CSE1L_uc010zyg.2_Missense_Mutation_p.R75C|CSE1L_uc010ghx.3_Intron|CSE1L_uc010ghy.3_5'UTR|CSE1L_uc010zyh.2_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	292					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATACCTGCCTCGTTTTGTTAC	0.398000														51			7		0	0	0.003080	0	0
TGM6	343641	broad.mit.edu	37	20	2397950	2397950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:2397950G>A	uc002wfy.1	+	9	1470	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K	TGM6_uc010gal.1_Missense_Mutation_p.R470K	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	470					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCTGGAAGGAGAATCTGGATC	0.627000														18			5		0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100676513	100676513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100676513G>A	uc003uxp.1	+	2	1869	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	606	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTAGTGAAGCTAGTTC	0.473000														204			25		0	0	0.004656	0	0
HPCA	3208	broad.mit.edu	37	1	33354677	33354677	+	Missense_Mutation	SNP	G	A	A	rs147332564		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:33354677G>A	uc001bwh.3	+	1	218	c.178G>A	c.(178-180)Gac>Aac	p.D60N		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	60	EF-hand 2.						actin binding|calcium ion binding	p.D60D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCCCTATGGTGACGCCTCCAA	0.537000														66			6		0	0	0.003080	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548602	20548602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20548602G>A	uc002dhj.4	-	14	1922	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	ACSM2B_uc002dhk.4_Missense_Mutation_p.S571F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	571					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCTTTTCCGGACATCTTCCA	0.458000														178			18		0	0	0.007413	0	0
TMED2	10959	broad.mit.edu	37	12	124081261	124081262	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124081261_124081262CC>TT	uc001ufg.3	+	3	699_700	c.591_592CC>TT	c.(589-594)gtccgg>gtTTgg	p.R198W		NM_006815	NP_006806	Q15363	TMED2_HUMAN	Homo sapiens transmembrane emp24 domain trafficking protein 2 (TMED2), mRNA.	198					protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TTTTTGAAGTCCGGAGAGTTGT	0.396000														48			9		0	0	0.004672	0	0
MKRN3	7681	broad.mit.edu	37	15	23811410	23811410	+	Missense_Mutation	SNP	C	T	T	rs146108146		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:23811410C>T	uc001ywh.4	+	0	957	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P161S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	161						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P160P(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAAGCCCCCCCGGCTGCATC	0.647000														28			5		0	0	0.001984	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472820	6472820	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:6472820C>T	uc001iji.1	-	15	2100	c.2016G>A	c.(2014-2016)tgG>tgA	p.W672*	PRKCQ_uc001ijj.2_Nonsense_Mutation_p.W639*|PRKCQ_uc009xim.2_Nonsense_Mutation_p.W576*|PRKCQ_uc009xin.2_Nonsense_Mutation_p.W603*|PRKCQ_uc010qax.2_Nonsense_Mutation_p.W514*	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	639	AGC-kinase C-terminal.				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	p.E671D(1)		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						CAAGTTCCTCCCAGTTGATCT	0.597000														26			5		0	0	0.000602	0	0
TEX33	339669	broad.mit.edu	37	22	37397952	37397952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:37397952C>T	uc003aqf.3	-	2	561	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	TEX33_uc003aqe.3_Missense_Mutation_p.G54S	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	139																	ATGATGCTGCCCTTCTGGTTC	0.632000														15			3		0	0	0.009096	0	0
ARPP21	10777	broad.mit.edu	37	7	38288965	38288965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:38288965C>T	uc003tfu.3	-	1	259	c.24G>A	c.(22-24)atG>atA	p.M8I	ARPP21_uc022aby.1_Intron|ARPP21_uc003tfv.3_Missense_Mutation_p.M8I|ARPP21_uc003tfw.3_Non-coding_Transcript|ARPP21_uc003tfx.1_Non-coding_Transcript|ARPP21_uc022abz.1_Non-coding_Transcript|ARPP21_uc003tfz.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	RecName: Full=T-cell receptor gamma-2 chain C region; AltName: Full=T-cell receptor gamma chain C region PT-gamma-1/2;	326						cytoplasm	nucleic acid binding	p.L7L(1)		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						AGCTAAATTTCATGTATGTGT	0.388000														156			14		0	0	0.001855	0	0
PSG7	5676	broad.mit.edu	37	19	43433835	43433835	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:43433835G>A	uc002ovl.4	-	3	567	c.465C>T	c.(463-465)ttC>ttT	p.F155F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.F34F	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	156	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				CCCTGGGGTTGAAATTGCTGC	0.522000														98			24		0	0	0.003954	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190186	58190186	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:58190186C>T	uc002qpu.3	+	4	1912	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	405					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACAAGCTACCGCCAGTCAT	0.478000														75			21		0	0	0.012319	0	0
ZNF609	23060	broad.mit.edu	37	15	64791938	64791938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:64791938C>T	uc002ann.3	+	0	320	c.320C>T	c.(319-321)tCc>tTc	p.S107F	ZNF609_uc010bgy.3_Missense_Mutation_p.S107F	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	107						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGGGACTTCCCTGTTCACT	0.547000														29			8		0	0	0.003080	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779463	156779463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156779463C>T	uc009wsh.2	-	5	874	c.734G>A	c.(733-735)gGg>gAg	p.G245E	SH2D2A_uc001fqc.1_Missense_Mutation_p.G207E|SH2D2A_uc001fqd.2_Missense_Mutation_p.G235E|SH2D2A_uc001fqe.2_Missense_Mutation_p.G217E|SH2D2A_uc010phs.1_Missense_Mutation_p.G235E	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	235	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCTTCTCCCCGGCCCCCTC	0.637000														58			16		0	0	0.004990	0	0
KDM5A	5927	broad.mit.edu	37	12	493221	493221	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:493221G>A	uc001qif.1	-	2	705	c.342C>T	c.(340-342)atC>atT	p.I114I	KDM5A_uc010sdn.1_Intron|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	114	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACAGATCCAGGATTTTTCTCT	0.398000			T	NUP98	AML									133			16		0	0	0.004990	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535625	90535625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:90535625C>T	uc010mqi.3	+	3	832	c.803C>T	c.(802-804)cCa>cTa	p.P268L	FAM75C1_uc004apq.4_Missense_Mutation_p.P251L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGCTTGTCTCCACGTGAGGAT	0.572000														93			10		0	0	0.013537	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886753	47886753	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47886753G>A	uc002xui.3	-	2	1843	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	532							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TATTCCTCTGGAAGGGAACAT	0.502000														91			16		0	0	0.007413	0	0
CATSPERB	79820	broad.mit.edu	37	14	92083984	92083984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:92083984C>T	uc001xzs.1	-	19	2497	c.2357G>A	c.(2356-2358)aGt>aAt	p.S786N	CATSPERB_uc010aub.1_Missense_Mutation_p.S308N	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	786					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATTACATAACTGTCAGTATC	0.323000														33			6		0	0	0.001168	0	0
DUSP7	1849	broad.mit.edu	37	3	52088040	52088040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52088040C>T	uc003dct.3	-	1	947	c.868G>A	c.(868-870)Gag>Aag	p.E290K	DUSP7_uc010hma.2_Missense_Mutation_p.E290K	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	290					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGGTGAACTCGCCGCCGTGC	0.562000														65			7		0	0	0.003080	0	0
LRRC17	10234	broad.mit.edu	37	7	102574798	102574798	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:102574798G>A	uc003vau.3	+	1	827	c.438G>A	c.(436-438)gaG>gaA	p.E146E	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.E146E	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	146					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TCTTGACGGAGGAAGTGTTCA	0.433000														82			10		0	0	0.010729	0	0
ATAD3C	219293	broad.mit.edu	37	1	1403879	1403879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:1403879C>T	uc001aft.2	+	11	2200	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	402							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGAGAGGCCTGGGCCCGAG	0.672000														16			3		0	0	0.004672	0	0
WNK3	65267	broad.mit.edu	37	X	54224978	54224978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:54224978G>A	uc004dtc.2	-	23	5621	c.5182C>T	c.(5182-5184)Cct>Tct	p.P1728S	WNK3_uc004dtd.2_Missense_Mutation_p.P1671S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1671					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AATGGCCCAGGAAATGAAGGG	0.493000														12			7		0	0	0.003080	0	0
POTEF	728378	broad.mit.edu	37	2	130869621	130869621	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:130869621C>T	uc010fmh.2	-	5	1264	c.864G>A	c.(862-864)gtG>gtA	p.V288V		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	288						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTAAAAATTTCACGACTTGCT	0.333000														26			7		0	0	0.003080	0	0
SRL	6345	broad.mit.edu	37	16	4242775	4242775	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4242775C>T	uc002cvz.4	-	5	814	c.801G>A	c.(799-801)cgG>cgA	p.R267R	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	726	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCCCGTAAACCCGCATGAGCA	0.552000														60			5		0	0	0.000602	0	0
DET1	55070	broad.mit.edu	37	15	89074761	89074761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:89074761G>A	uc002bmq.2	-	2	398	c.209C>T	c.(208-210)cCt>cTt	p.P70L	DET1_uc002bmp.4_Intron|DET1_uc002bmr.2_Missense_Mutation_p.P59L|DET1_uc010bnk.2_Intron	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	59						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAAGAAACAAGGAGGCTTTTC	0.478000														100			20		0	0	0.010504	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640396	145640396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:145640396G>A	uc003zcq.3	-	3	866	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Missense_Mutation_p.L231F	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	256						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAGCTGATGAGGGGCACAGGG	0.667000														44			5		0	0	0.000602	0	0
ARSF	416	broad.mit.edu	37	X	3019200	3019200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:3019200G>A	uc022brz.1	+	7	1176	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	ARSF_uc004cre.2_Missense_Mutation_p.G347E|ARSF_uc004crf.2_Missense_Mutation_p.G347E	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	347						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TCAGATCACGGAGGGCATTTG	0.433000														49			10		0	0	0.006214	0	0
MMP26	56547	broad.mit.edu	37	11	5010967	5010967	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:5010967G>A	uc001lzv.3	+	1	207	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	63					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R63P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AATTCCATCGGAATGGGACAG	0.522000														31			6		0	0	0.001984	0	0
SLC22A23	63027	broad.mit.edu	37	6	3410537	3410537	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:3410537G>A	uc003mvm.3	-	2	798	c.798C>T	c.(796-798)ttC>ttT	p.F266F	SLC22A23_uc003mvn.3_5'UTR|SLC22A23_uc003mvo.3_5'UTR|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Silent_p.F266F|SLC22A23_uc010jno.2_Silent_p.F266F	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	266					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGATCAGAATGAAGATGATGG	0.468000														26			5		0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	20999290	20999290	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:20999290C>T	uc010vbe.2	-	44	6699	c.6699G>A	c.(6697-6699)ggG>ggA	p.G2233G	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2233	AAA 3 (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)		CAAACCCTTTCCCGAAGTGCC	0.453000														35			8		0	0	0.004482	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092446	143092446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:143092446G>A	uc003qjd.3	-	4	4173	c.3430C>T	c.(3430-3432)Ccc>Tcc	p.P1144S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCAGCGGGGGACAAGGACCC	0.622000														43			5		0	0	0.000602	0	0
VAV1	7409	broad.mit.edu	37	19	6828176	6828176	+	Silent	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:6828176T>C	uc002mfu.1	+	9	1114	c.1017T>C	c.(1015-1017)ctT>ctC	p.L339L	VAV1_uc010xjh.1_Silent_p.L307L|VAV1_uc010dva.1_Silent_p.L339L|VAV1_uc002mfv.1_Silent_p.L284L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	339	DH.				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	p.L339L(2)		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						ATCACCTCCTTCTCCAGGTGC	0.567000														31			4		0	0	0.009096	0	0
C1orf94	84970	broad.mit.edu	37	1	34684324	34684324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:34684324C>T	uc001bxt.3	+	6	2597	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	C1orf94_uc001bxs.4_Missense_Mutation_p.P397S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	397							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GATGCACAGCCCCTATTTTTC	0.493000														53			13		0	0	0.003163	0	0
SVEP1	79987	broad.mit.edu	37	9	113231315	113231315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:113231315G>A	uc010mtz.3	-	16	3402	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	SVEP1_uc010mua.1_Missense_Mutation_p.S1022F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1022					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						ATCTTGATAGGATCCGATCCG	0.413000														55			13		0	0	0.002450	0	0
CIITA	4261	broad.mit.edu	37	16	10996560	10996560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:10996560G>A	uc002daj.4	+	7	810	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CIITA_uc002dai.4_Missense_Mutation_p.G225E|CIITA_uc002dak.4_Missense_Mutation_p.G176E|CIITA_uc002dag.2_Missense_Mutation_p.G225E|CIITA_uc002dah.2_Missense_Mutation_p.G177E|CIITA_uc010bup.1_Missense_Mutation_p.G225E	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	225					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCCCTGAGGGACCCATCCAG	0.537000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									51			7		0	0	0.001984	0	0
SCARF2	91179	broad.mit.edu	37	22	20783888	20783888	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:20783888G>A	uc002zsj.2	-	7	1464	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	SCARF2_uc002zsk.2_Silent_p.L453L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	453					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGCAGACGAGCAGGACGA	0.677000														47			9		0	0	0.010729	0	0
PUS7	54517	broad.mit.edu	37	7	105142951	105142951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:105142951G>A	uc010lji.3	-	3	654	c.646C>T	c.(646-648)Cca>Tca	p.P216S	PUS7_uc003vcx.3_Missense_Mutation_p.P216S|PUS7_uc003vcy.3_Missense_Mutation_p.P216S|PUS7_uc003vcz.1_Missense_Mutation_p.P216S	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	216					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCTAATCCTGGAAACAGAGAT	0.418000														75			9		0	0	0.004482	0	0
CASP14	23581	broad.mit.edu	37	19	15164443	15164443	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:15164443G>A	uc010dzv.2	+	3	389	c.177_splice	c.e3+1	p.E59_splice		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	59					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACTGCCGAGGTATTGGGGTG	0.547000														42			13		0	0	0.003163	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998336	46998336	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:46998336G>A	uc002pes.2	-	0	834	c.387C>T	c.(385-387)acC>acT	p.T129T	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.G149G	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	129										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AAGCGGGAGGGGTGGGTGCCT	0.711000														62			5		0	0	0.000602	0	0
ITIH1	3697	broad.mit.edu	37	3	52813605	52813605	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:52813605T>A	uc003dfs.3	+	4	598	c.568T>A	c.(568-570)Ttt>Att	p.F190I	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.F48I|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	190					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)		GGTGCATCATTTTGAGGTAGA	0.532000														59			5		0	0	0.001168	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432470	104432470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104432470C>T	uc004bbp.2	-	2	2825	c.2224G>A	c.(2224-2226)Gga>Aga	p.G742R	GRIN3A_uc004bbq.1_Missense_Mutation_p.G742R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	742					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGAAACCTTCCAGTCCAACAT	0.423000														36			15		0	0	0.004007	0	0
MYH6	4624	broad.mit.edu	37	14	23866823	23866823	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23866823C>T	uc001wjv.3	-	16	1963	c.1892_splice	c.e16-1	p.G631_splice		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	631	Myosin head-like.				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)		CCACTGTCCCCTAAACAGCGA	0.547000														52			8		0	0	0.006214	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177738	70177738	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:70177738G>T	uc010moc.3	-	0	1078	c.246C>A	c.(244-246)gaC>gaA	p.D82E		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	82					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						ACTCTGAGGGGTCACTCGGGC	0.692000														231			25		5.61819e-17	5.8549e-17	0.005443	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351308	118351308	+	Silent	SNP	C	T	T	rs142908624	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:118351308C>T	uc001lco.1	+	2	93	c.75C>T	c.(73-75)ctC>ctT	p.L25L	PNLIPRP1_uc001lcp.2_Silent_p.L25L|PNLIPRP1_uc001lcn.3_Silent_p.L25L|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	25					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATGAGGACCTCGGGTGCTTTT	0.552000														80			7		0	0	0.001984	0	0
PDE6C	5146	broad.mit.edu	37	10	95400221	95400221	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95400221G>A	uc001kiu.4	+	12	1782	c.1644G>A	c.(1642-1644)tgG>tgA	p.W548*		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	548					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			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)				TTACCAGATGGATGTACACTG	0.428000														74			8		0	0	0.004482	0	0
RNF20	56254	broad.mit.edu	37	9	104312959	104312959	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104312959C>T	uc004bbn.3	+	9	1254	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	388					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGTCACAGTTCTCCGTCTTGT	0.522000														113			8		0	0	0.003080	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884669	228884669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:228884669G>A	uc002vpq.2	-	6	948	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P301S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P301S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	301						cytoplasm	protein binding			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)		TTGGCTGAGGGATCTAGACTC	0.403000														110			38		0	0	0.004878	0	0
CFHR1	3078	broad.mit.edu	37	1	196799639	196799639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:196799639G>A	uc001gtn.3	+	4	731	c.617G>A	c.(616-618)gGa>gAa	p.G206E	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.G110E	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	206	Sushi 4.				complement activation	extracellular space		p.T205T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GATTCTACGGGAAAATGTGGG	0.383000														84			14		0	0	0.002450	0	0
BCAN	63827	broad.mit.edu	37	1	156622516	156622517	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:156622516_156622517CC>TT	uc001fpp.3	+	7	2110_2111	c.1774_1775CC>TT	c.(1774-1776)cct>TTt	p.P592F	BCAN_uc001fpo.3_Missense_Mutation_p.P592F	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	592					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGAGGGTGCCCCTTCCCTGCTT	0.629000														28			7		0	0	0.004672	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891364	89891364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:89891364C>T	uc001pdf.4	+	6	957	c.848C>T	c.(847-849)cCt>cTt	p.P283L	NAALAD2_uc009yvx.3_Missense_Mutation_p.P283L|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.P283L|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	283	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCGAATACCTGTACATCCC	0.308000														83			28		0	0	0.013726	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533538	29533538	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:29533538C>T	uc011akm.1	+	5	893	c.840C>T	c.(838-840)gtC>gtT	p.V280V	KREMEN1_uc003ael.3_Silent_p.V280V|KREMEN1_uc011akn.2_Silent_p.V163V	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	278	CUB.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	p.R279H(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCACCGTGTCCTAGCCCGCT	0.587000														27			14		0	0	0.002450	0	0
TADA2A	6871	broad.mit.edu	37	17	35783643	35783643	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:35783643C>T	uc002hnv.3	+	2	429	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TADA2A_uc002hnt.3_Silent_p.C20C|TADA2A_uc002hnu.1_Silent_p.C20C|TADA2A_uc002hnw.3_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	20	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GCCGAGGCTGCTCCTCCTACC	0.463000														105			13		0	0	0.004007	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956711	102956711	+	Silent	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102956711A>C	uc002tbu.1	+	3	697	c.426A>C	c.(424-426)acA>acC	p.T142T	IL1RL1_uc010ywa.2_Silent_p.T25T|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.T142T	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	142	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACAACTGGACAGCACCTCTTG	0.368000														25			5		0	0	0.001984	0	0
C19orf21	126353	broad.mit.edu	37	19	758707	758707	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:758707G>A	uc002lpo.3	+	1	1844	c.1761G>A	c.(1759-1761)agG>agA	p.R587R		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	587										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		AGAACTCCAGGAGCTCCTCCC	0.622000														24			4		0	0	0.001168	0	0
C12orf40	283461	broad.mit.edu	37	12	40044066	40044066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:40044066C>T	uc001rmc.3	+	6	763	c.596C>T	c.(595-597)tCc>tTc	p.S199F	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	199										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGTTCTGATTCCTTGCTTTCC	0.279000														36			7		0	0	0.001984	0	0
PILRA	29992	broad.mit.edu	37	7	99972025	99972025	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99972025C>T	uc003uuo.1	+	1	635	c.423C>T	c.(421-423)tcC>tcT	p.S141S	PILRA_uc011kjn.1_Silent_p.S141S|PILRA_uc011kjo.2_Silent_p.S141S|PILRA_uc003uup.1_Silent_p.S141S|PILRA_uc003uuq.1_Silent_p.S141S	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	141	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGGCAGTCCATCGAGGGGA	0.587000														78			18		0	0	0.008871	0	0
KCNB1	3745	broad.mit.edu	37	20	47990438	47990438	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47990438C>T	uc002xur.1	-	1	1825	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	KCNB1_uc002xus.1_Silent_p.Q553Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	553					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGGTTTGCTCTGTGCTGCTG	0.512000														121			12		0	0	0.013537	0	0
LNX1	84708	broad.mit.edu	37	4	54342990	54342990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:54342990C>T	uc003hag.4	-	8	2078	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D512N|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	608						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGTTGGAGTCCAGGGCTGCT	0.522000														81			14		0	0	0.004990	0	0
TMC3	342125	broad.mit.edu	37	15	81644161	81644161	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:81644161C>T	uc021ssk.1	-	9	957	c.957G>A	c.(955-957)agG>agA	p.R319R	TMC3_uc021ssj.1_Silent_p.R319R|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.R319R	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	319						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGCAATAATCCTCAGGCAGA	0.537000														8			4		0	0	0.009096	0	0
NDRG1	10397	broad.mit.edu	37	8	134276895	134276895	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:134276895C>T	uc003yuh.2	-	4	686	c.100_splice	c.e4-1	p.E34_splice	NDRG1_uc003yug.2_Splice_Site_p.E34_splice|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_Splice_Site|NDRG1_uc011ljh.1_Splice_Site|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	34					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTCCTGCTCCTGAGGAGAC	0.557000			T	ERG	prostate									38			7		0	0	0.001984	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315234	30315234	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:30315234G>A	uc009xle.2	-	2	3980	c.3843C>T	c.(3841-3843)tcC>tcT	p.S1281S	KIAA1462_uc001iux.3_Silent_p.S1281S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.S1143S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1281										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						CGTCCTCCTGGGAGTCGGCAT	0.632000														38			7		0	0	0.001984	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900270	151900270	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151900270G>A	uc022chj.1	-	0	531	c.531C>T	c.(529-531)atC>atT	p.I177I	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.I177I|MAGEA12_uc022chi.1_Silent_p.I177I|MAGEA12_uc004fgc.3_Silent_p.I177I|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.	177	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)					AGGTGACAAGGATGTACAAGT	0.557000														61			11		0	0	0.010729	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:47846657G>A	uc011dwm.2	-	2	1957	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	PTCHD4_uc011dwn.2_Silent_p.I388I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	641						integral to membrane	hedgehog receptor activity	p.I641I(1)									GGTTGAACACGATGAATCGGA	0.483000														108			22		0	0	0.003330	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580245	77580245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:77580245C>T	uc001xtd.3	+	3	963	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	KIAA1737_uc001xtc.1_Missense_Mutation_p.P164S	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	262										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CTTCGCTTCCCCCGCCAGTCC	0.572000														41			14		0	0	0.001855	0	0
EVI5	7813	broad.mit.edu	37	1	93101794	93101794	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:93101794T>G	uc010otf.2	-	12	1487	c.1477A>C	c.(1477-1479)Aaa>Caa	p.K493Q	EVI5_uc001dox.3_Missense_Mutation_p.K482Q|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	482	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGCATCTCTTTTAATGCACAC	0.398000														97			8		0	0	0.004482	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708364	126708364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:126708364C>T	uc003ejg.3	+	0	928	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	310	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)		TGTGGAGTACCGCCTGGTGCA	0.637000														133			14		0	0	0.004007	0	0
ANK1	286	broad.mit.edu	37	8	41563675	41563675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:41563675C>T	uc003xok.3	-	17	2167	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.D3N|ANK1_uc003xoi.3_Missense_Mutation_p.D695N|ANK1_uc003xoj.3_Missense_Mutation_p.D695N|ANK1_uc003xol.3_Missense_Mutation_p.D695N|ANK1_uc003xom.3_Missense_Mutation_p.D728N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	695	89 kDa 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)			GTGGTGGCGTCCACCATGACG	0.542000														36			7		0	0	0.004482	0	0
EGR1	1958	broad.mit.edu	37	5	137803494	137803494	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:137803494C>T	uc003ldb.1	+	1	1626	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	452					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cttacccgtccccggttacta	0.602000														10			3		0	0	0.004672	0	0
MYO18B	84700	broad.mit.edu	37	22	26423114	26423114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:26423114G>A	uc003abz.1	+	42	7424	c.7174G>A	c.(7174-7176)Gac>Aac	p.D2392N	MYO18B_uc003aca.1_Missense_Mutation_p.D2273N|MYO18B_uc010guy.1_Missense_Mutation_p.D2274N|MYO18B_uc010guz.1_Missense_Mutation_p.D2272N|MYO18B_uc011aka.1_Missense_Mutation_p.D1546N|MYO18B_uc011akb.1_Missense_Mutation_p.D1905N|MYO18B_uc010gva.1_Missense_Mutation_p.D375N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2392						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						GTCCTCTGTGGACGATGCGGG	0.597000														78			9		0	0	0.004482	0	0
KIAA1244	57221	broad.mit.edu	37	6	138607888	138607888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:138607888G>A	uc003qhu.3	+	15	2791	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	874					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAACTTGATCGATACTTTATC	0.512000														92			8		0	0	0.006214	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455190	84455190	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:84455190C>T	uc001vlk.3	-	0	1339	c.453G>A	c.(451-453)caG>caA	p.Q151Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	151						integral to membrane		p.Q151H(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTCAAGTCCTGGAAGGCCC	0.483000														54			13		0	0	0.002450	0	0
C8B	732	broad.mit.edu	37	1	57417813	57417813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:57417813C>T	uc001cyp.3	-	4	641	c.574G>A	c.(574-576)Gat>Aat	p.D192N	C8B_uc010oon.2_Missense_Mutation_p.D130N|C8B_uc010ooo.2_Missense_Mutation_p.D140N	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	192	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTGTGATCAAGAACTGGG	0.458000														101			17		0	0	0.004990	0	0
IGHE	3497	broad.mit.edu	37	14	106067775	106067775	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106067775G>A	uc001yrw.1	-	1	345	c.333C>T	c.(331-333)gtC>gtT	p.V111V	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.V58V|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		TTTTGTTGTCGACCCAGTCTG	0.607000														163			18		0	0	0.003330	0	0
TRANK1	9881	broad.mit.edu	37	3	36876394	36876394	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36876394C>G	uc003cgj.3	-	19	5638	c.5390G>C	c.(5389-5391)aGa>aCa	p.R1797T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1797					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCAGCATCTCTTATCTAGGA	0.348000														16			4		0	0	0.009096	0	0
IFT122	55764	broad.mit.edu	37	3	129183591	129183591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:129183591C>T	uc003eml.3	+	7	889	c.683C>T	c.(682-684)tCg>tTg	p.S228L	IFT122_uc003emm.3_Missense_Mutation_p.S177L|IFT122_uc003emn.3_Missense_Mutation_p.S177L|IFT122_uc003emo.3_Missense_Mutation_p.S125L|IFT122_uc003emp.3_Missense_Mutation_p.S27L|IFT122_uc010htc.3_Missense_Mutation_p.S228L|IFT122_uc011bky.2_Missense_Mutation_p.S27L|IFT122_uc011bla.2_Missense_Mutation_p.S27L|IFT122_uc003emr.3_Missense_Mutation_p.S27L|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	177					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						GGCTCCCTCTCGCCAATATGG	0.502000														80			10		0	0	0.008291	0	0
SCUBE2	57758	broad.mit.edu	37	11	9052328	9052328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:9052328G>A	uc001mhi.2	-	16	2222	c.2147C>T	c.(2146-2148)tCc>tTc	p.S716F	SCUBE2_uc021qdk.1_Missense_Mutation_p.S192F|SCUBE2_uc001mhj.2_Missense_Mutation_p.S618F	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	744						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GTCCTGAAAGGAAGTAGCTCC	0.542000														72			23		0	0	0.003330	0	0
OR2M5	127059	broad.mit.edu	37	1	248308533	248308533	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248308533C>T	uc010pze.2	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L27L(1)		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)			CCTTCCTCTTCTTTCTGGTCC	0.493000														215			10		0	0	0.008291	0	0
PLB1	151056	broad.mit.edu	37	2	28828750	28828750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:28828750C>T	uc002rmb.2	+	41	3036	c.2992C>T	c.(2992-2994)Cca>Tca	p.P998S	PLB1_uc010ezj.2_Missense_Mutation_p.P987S|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	998	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			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)					CTTCTTTGCCCCAGACTGCAT	0.527000														150			12		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	14	107083350	107083350	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:107083350C>T	uc021ser.1	-	130		c.5820G>A								Parts of antibodies, mostly variable regions.																		TATGGTGACTCGACTCTTGAG	0.552000														75			7		0	0	0.006214	0	0
ATP10D	57205	broad.mit.edu	37	4	47548757	47548757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:47548757C>T	uc003gxk.1	+	9	1677	c.1513C>T	c.(1513-1515)Cat>Tat	p.H505Y	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.H490Y	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	505					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGGACAGTTCATAATGGGCC	0.478000														65			24		0	0	0.004656	0	0
CRNN	49860	broad.mit.edu	37	1	152382994	152382994	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152382994C>T	uc001ezx.2	-	2	638	c.564G>A	c.(562-564)caG>caA	p.Q188Q		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	188	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G187W(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTCTGTCTGCCCAGAGA	0.572000														217			22		0	0	0.003954	0	0
ENPEP	2028	broad.mit.edu	37	4	111470973	111470973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:111470973C>T	uc003iab.4	+	16	2774	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	811					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGAAAACTTCATTAGCTCAA	0.383000														32			8		0	0	0.004482	0	0
PHKA2	5256	broad.mit.edu	37	X	18969319	18969319	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:18969319G>A	uc004cyv.4	-	3	787	c.357C>T	c.(355-357)gcC>gcT	p.A119A	PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Silent_p.A61A	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	119					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.N117fs*38(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCACAGGTGGCGGTGTTGT	0.617000														24			25		0	0	0.003954	0	0
F5	2153	broad.mit.edu	37	1	169510946	169510946	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:169510946G>A	uc001ggg.1	-	12	3527	c.3382C>T	c.(3382-3384)Caa>Taa	p.Q1128*		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1128	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Q1128K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGAATGTTTGATAGTGTTCC	0.483000														123			11		0	0	0.013537	0	0
LILRB1	10859	broad.mit.edu	37	19	55146187	55146187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55146187C>T	uc002qgj.3	+	10	1796	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	LILRB1_uc010erp.1_Nonsense_Mutation_p.R101*|LILRB1_uc002qgl.3_Nonsense_Mutation_p.R486*|LILRB1_uc002qgk.3_Nonsense_Mutation_p.R487*|LILRB1_uc002qgm.3_Nonsense_Mutation_p.R487*|LILRB1_uc010erq.3_Nonsense_Mutation_p.R470*|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	486					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		cctccGACATCGACGTCAGGG	0.597000										HNSCC(37;0.09)				47			21		0	0	0.014323	0	0
ATP2B1	490	broad.mit.edu	37	12	89985051	89985051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:89985051G>A	uc001tbh.3	-	19	3554	c.3373C>T	c.(3373-3375)Cgt>Tgt	p.R1125C	ATP2B1_uc001tbg.3_Missense_Mutation_p.S1176L|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Missense_Mutation_p.R759C	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1163	Calmodulin-binding subdomain B.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAAGAACTACGAAATGCATTC	0.333000														18			4		0	0	0.009096	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767060	41767060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:41767060G>A	uc001uxw.1	-	0	1643	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	445							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCAGTAATAGGGTCTCGTCC	0.478000														74			18		0	0	0.008871	0	0
LINC00477	144360	broad.mit.edu	37	12	24736623	24736623	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:24736623C>T	uc001rgb.1	-	0		c.480G>A								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		TCTGCGAGGTCGGGGATGCTG	0.557000														65			10		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179480053	179480053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179480053C>T	uc021vsy.1	-	207	41140	c.40915G>A	c.(40915-40917)Gaa>Aaa	p.E13639K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.E7334K|TTN_uc021vta.1_Missense_Mutation_p.E7267K|TTN_uc021vtb.1_Missense_Mutation_p.E7142K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14566	Ig-like 92.						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)			GCAACAGGTTCTCCACAGGCA	0.383000														71			5		0	0	0.000602	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432421	104432421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:104432421G>A	uc004bbp.2	-	2	2874	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F	GRIN3A_uc004bbq.1_Missense_Mutation_p.S758F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	758					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CGTGTATGTGGAAAGGCAAAA	0.428000														51			6		0	0	0.001168	0	0
CHST4	10164	broad.mit.edu	37	16	71571297	71571297	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:71571297G>A	uc021tkt.1	+	0	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E	CHST4_uc002fan.3_Silent_p.E239E|CHST4_uc002fao.3_Silent_p.E239E	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	239					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCAAGAAGGAGGACCAACCCT	0.552000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			3		0	0	0.004672	0	0
SRRM2	23524	broad.mit.edu	37	16	2812796	2812796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:2812796C>T	uc002crk.3	+	10	2816	c.2267C>T	c.(2266-2268)tCa>tTa	p.S756L	SRRM2_uc002crj.1_Missense_Mutation_p.S660L|SRRM2_uc002crl.1_Missense_Mutation_p.S756L|SRRM2_uc010bsu.1_Missense_Mutation_p.S660L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	756	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCATTTCTTCAAGGCGGAGC	0.473000														79			27		0	0	0.004656	0	0
GARNL3	84253	broad.mit.edu	37	9	130152978	130152978	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:130152978C>T	uc011mae.2	+	26	3203	c.2802C>T	c.(2800-2802)ccC>ccT	p.P934P	GARNL3_uc011mad.2_Silent_p.P912P|GARNL3_uc010mxi.3_Silent_p.P164P	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	934					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATCAAAACCCCGGAAGCGGT	0.572000														72			10		0	0	0.006214	0	0
OR4C3	256144	broad.mit.edu	37	11	48347284	48347284	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:48347284C>T	uc010rhv.2	+	0	792	c.792C>T	c.(790-792)acC>acT	p.T264T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCCTCTCCACCTGTGGAGCCC	0.458000														67			7		0	0	0.001984	0	0
WWTR1	25937	broad.mit.edu	37	3	149290687	149290687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:149290687G>A	uc003exf.3	-	2	872	c.532C>T	c.(532-534)Cct>Tct	p.P178S	WWTR1_uc003exe.3_Missense_Mutation_p.P178S|WWTR1_uc021xfm.1_Missense_Mutation_p.P178S|WWTR1_uc003exh.3_Missense_Mutation_p.P178S	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	178					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GACCTCTGAGGCACTGGTGTG	0.443000			T	CAMTA1	epitheliod hemangioendothelioma									55			9		0	0	0.008291	0	0
OR2G2	81470	broad.mit.edu	37	1	247751793	247751793	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247751793G>A	uc010pyy.2	+	0	132	c.132G>A	c.(130-132)ggG>ggA	p.G44G		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			CTATTTTGGGGAATACCACCA	0.408000														127			11		0	0	0.013537	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602351	234602351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:234602351C>T	uc002vuv.4	+	0	840	c.701C>T	c.(700-702)tCa>tTa	p.S234L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.S234L	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	235					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GAACTCGCATCAGCTGTCCTC	0.408000														129			23		0	0	0.014323	0	0
CCDC11	220136	broad.mit.edu	37	18	47788366	47788366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47788366C>T	uc002lee.2	-	1	384	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	98										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTACTTATTTCGTCTTTCTTC	0.393000														60			6		0	0	0.001168	0	0
ST14	6768	broad.mit.edu	37	11	130068470	130068470	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:130068470G>A	uc001qfw.3	+	13	1831	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	546	LDL-receptor class A 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTGCAATGGGAAGGACGACT	0.657000														22			4		0	0	0.000602	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499389	37499389	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:37499389C>T	uc003aqt.1	-	1	131	c.69G>A	c.(67-69)gaG>gaA	p.E23E	TMPRSS6_uc003aqs.1_Silent_p.E32E|TMPRSS6_uc003aqu.3_Silent_p.E23E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	32					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCCCCTCCGGCTCCGCTTCCT	0.662000														120			14		0	0	0.003163	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558804	140558804	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140558804T>G	uc011dai.2	+	0	1434	c.1189T>G	c.(1189-1191)Tct>Gct	p.S397A	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAAATCTTCTGTGGGGAA	0.458000														88			9		0	0	0.004482	0	0
SAGE1	55511	broad.mit.edu	37	X	134991100	134991100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:134991100G>A	uc004ezh.3	+	12	1686	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	SAGE1_uc010nry.1_Missense_Mutation_p.D476N|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	507										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CATATCAAATGATGCACCACA	0.433000														27			8		0	0	0.003080	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650433	121650433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:121650433C>T	uc003vjy.3	+	11	1728	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S	PTPRZ1_uc011knt.2_Missense_Mutation_p.P445S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.P445S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	445					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATTGTGAATCCTGGTAGAGA	0.388000														71			22		0	0	0.014323	0	0
CILP	8483	broad.mit.edu	37	15	65495726	65495726	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65495726C>T	uc002aon.2	-	6	1183	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	334	Ig-like C2-type.				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						GCCTGGGCTTCCCTGTGGCCT	0.517000														48			8		0	0	0.004482	0	0
UBN1	29855	broad.mit.edu	37	16	4924582	4924582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:4924582C>T	uc002cyb.3	+	14	2510	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F	UBN1_uc010uxw.2_Missense_Mutation_p.S724F|UBN1_uc002cyc.3_Missense_Mutation_p.S724F	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	724					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCTAGTCCTTCTGCTCCACCA	0.498000														214			20		0	0	0.003954	0	0
CYLD	1540	broad.mit.edu	37	16	50811837	50811837	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:50811837T>G	uc021tib.1	+	5	1246	c.1123T>G	c.(1123-1125)Tgg>Ggg	p.W375G	CYLD_uc002egn.1_Missense_Mutation_p.W372G|CYLD_uc002ego.3_Missense_Mutation_p.W372G|CYLD_uc010cbs.1_Missense_Mutation_p.W372G|CYLD_uc002egp.1_Missense_Mutation_p.W372G|CYLD_uc002egq.1_Missense_Mutation_p.W372G|CYLD_uc002egr.1_Missense_Mutation_p.W372G|CYLD_uc002egs.1_Missense_Mutation_p.W372G	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	375	Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAAATACATGGTACATTGA	0.299000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					43			5		0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734809	176734809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:176734809C>T	uc001gkz.3	+	14	5323	c.4159C>T	c.(4159-4161)Cat>Tat	p.H1387Y	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1387					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						CAGCTGTATCCATCGGCCCTG	0.507000														129			10		0	0	0.003163	0	0
GDF10	2662	broad.mit.edu	37	10	48429372	48429372	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48429372G>A	uc001jfb.3	-	1	942	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	GDF10_uc009xnp.3_Silent_p.L171L|GDF10_uc009xnq.2_Silent_p.L172L	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	172					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGAAGAGCAGGTGCTGGCGT	0.741000														40			6		0	0	0.004482	0	0
CHST15	51363	broad.mit.edu	37	10	125805347	125805347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125805347G>A	uc001lhn.3	-	1	1116	c.382C>T	c.(382-384)Cca>Tca	p.P128S	CHST15_uc001lhm.3_Missense_Mutation_p.P128S|CHST15_uc010que.2_Missense_Mutation_p.P128S|CHST15_uc001lho.3_Missense_Mutation_p.P128S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	128					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGTCACTTGGGTTTTCGCTG	0.438000														132			12		0	0	0.002450	0	0
RPRD2	23248	broad.mit.edu	37	1	150445226	150445226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150445226C>T	uc009wlr.3	+	10	4003	c.3802C>T	c.(3802-3804)Cct>Tct	p.P1268S	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1242S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1268	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATTCCTTTCCCTACCCCACC	0.612000														68			7		0	0	0.003080	0	0
RTKN2	219790	broad.mit.edu	37	10	64022544	64022544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:64022544G>A	uc001jlw.3	-	1	194	c.97C>T	c.(97-99)Cga>Tga	p.R33*	ZNF365_uc001jly.4_Intron|RTKN2_uc001jlx.2_Nonsense_Mutation_p.R33*	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	33					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTCGCATTCGAATTTCTAAG	0.333000														28			4		0	0	0.000602	0	0
SLC13A4	26266	broad.mit.edu	37	7	135377165	135377165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:135377165C>T	uc003vtb.3	-	10	1818	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	SLC13A4_uc003vta.3_Missense_Mutation_p.E376K|C7orf73_uc003vsz.4_Non-coding_Transcript	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	376						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GTCACCATTTCTGGGTAGCTA	0.418000														22			13		0	0	0.001855	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399265	22399265	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:22399265G>A	uc001mqk.3	+	11	2141	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	576					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATAGCTATAAGGACCGAGTTG	0.353000														9			3		0	0	0.004672	0	0
SUMF2	25870	broad.mit.edu	37	7	56136241	56136241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:56136241C>T	uc011kcw.2	+	1	222	c.191C>T	c.(190-192)cCa>cTa	p.P64L	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Intron|SUMF2_uc003trv.3_Missense_Mutation_p.P64L|SUMF2_uc011kcy.2_Missense_Mutation_p.P64L|SUMF2_uc011kcz.2_Missense_Mutation_p.P64L|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Missense_Mutation_p.P64L	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	45						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAAATTCTCCAGACAGCAGA	0.488000														19			12		0	0	0.001855	0	0
CYTH3	9265	broad.mit.edu	37	7	6213339	6213339	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:6213339G>A	uc003spt.3	-	5	498	c.394C>T	c.(394-396)Caa>Taa	p.Q132*	CYTH3_uc011jws.2_5'Flank	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	132	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ACAAAGGCTTGAAGAACTTTA	0.373000														33			13		0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9083586	9083586	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9083586C>T	uc002mkp.3	-	0	8433	c.8229G>A	c.(8227-8229)tcG>tcA	p.S2743S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2743L(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						CCACTGTGATCGAACCTTCAT	0.463000														76			6		0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215848419	215848419	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:215848419G>A	uc001hku.1	-	62	13221	c.12834C>T	c.(12832-12834)ccC>ccT	p.P4278P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4278	Fibronectin type-III 28.				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.P4278P(2)		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)		GCAGTTTTTGGGgattcatag	0.448000										HNSCC(13;0.011)				32			14		0	0	0.002450	0	0
TIGD3	220359	broad.mit.edu	37	11	65124129	65124129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:65124129C>T	uc021qlj.1	+	0	850	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	TIGD3_uc001odo.4_Missense_Mutation_p.L284F	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	284	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCACGTGAAGCTCTTGCCTCT	0.662000														42			13		0	0	0.001855	0	0
RECQL5	9400	broad.mit.edu	37	17	73625422	73625423	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:73625422_73625423GG>AA	uc010dgl.3	-	15	2289_2290	c.2080_2081CC>TT	c.(2080-2082)ccg>TTg	p.P694L	RECQL5_uc010dgk.3_Missense_Mutation_p.P667L|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	694					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)			GGGCCGGCTCGGGGGCTCGTGC	0.703000								Other identified genes with known or suspected DNA repair function						28			8		0	0	0.004672	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384781	39384781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:39384781C>T	uc010oio.1	-	1	348	c.344G>A	c.(343-345)gGa>gAa	p.G115E	RHBDL2_uc010oin.1_Missense_Mutation_p.G35E|RHBDL2_uc001ccu.1_Missense_Mutation_p.G35E|RHBDL2_uc001ccv.3_Missense_Mutation_p.G35E	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	35					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATCTTTACCTCCCCCATCCTC	0.483000														99			10		0	0	0.006214	0	0
C7orf34	135927	broad.mit.edu	37	7	142637500	142637500	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:142637500G>A	uc003wca.2	+	1	311	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	65						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGATGTGGCAGGTGGTGGACA	0.552000														86			8		0	0	0.003080	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731997	140731997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140731997C>T	uc003ljo.2	+	0	2170	c.2170C>T	c.(2170-2172)Caa>Taa	p.Q724*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Nonsense_Mutation_p.Q724*|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	727					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)			GGGCTGCTTTCAAACCGGTCT	0.582000														51			17		0	0	0.008871	0	0
TRIM2	23321	broad.mit.edu	37	4	154197219	154197219	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:154197219C>T	uc003inh.2	+	2	475	c.390C>T	c.(388-390)atC>atT	p.I130I	TRIM2_uc003ing.2_Silent_p.I103I|TRIM2_uc003ini.1_Silent_p.I121I	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	103						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGTCTTCCATCCTGGAGACAG	0.572000														38			4		0	0	0.001168	0	0
ACTL8	81569	broad.mit.edu	37	1	18152362	18152362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:18152362C>T	uc001bat.3	+	2	665	c.449C>T	c.(448-450)tCt>tTt	p.S150F		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	150						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GTGGTTGATTCTGGCTATGGC	0.637000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			4		0	0	0.000602	0	0
RPH3A	22895	broad.mit.edu	37	12	113307833	113307833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:113307833G>A	uc010syl.2	+	9	1147	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	RPH3A_uc001ttz.3_Missense_Mutation_p.R262Q|RPH3A_uc001tty.3_Missense_Mutation_p.R258Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R258Q|RPH3A_uc010sym.2_Missense_Mutation_p.R213Q|RPH3A_uc001tua.3_Missense_Mutation_p.R22Q	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	262	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GACTCCAGCCGGAGCCCAGCA	0.542000														18			3		0	0	0.009096	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	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)			GCTTTCGCTCCTTTCCGGCGG	0.537000														28			7		0	0	0.001984	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519756	113519756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:113519756C>T	uc010ljy.1	-	3	1422	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	464					glycogen metabolic process	integral to membrane		p.G464R(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTAAGGTTTCCTGCCATTAG	0.413000														67			19		0	0	0.014323	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862090	25862090	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:25862090G>A	uc003nfk.4	-	3	581	c.471C>T	c.(469-471)atC>atT	p.I157I	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Silent_p.I157I|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	308					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGGCCAGAGGGATGCATAGAG	0.443000														19			5		0	0	0.001168	0	0
CDH4	1002	broad.mit.edu	37	20	60504876	60504876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:60504876C>T	uc002ybn.2	+	12	2303	c.2215C>T	c.(2215-2217)Ctc>Ttc	p.L739F	CDH4_uc002ybr.2_Missense_Mutation_p.L702F|CDH4_uc002ybp.2_Missense_Mutation_p.L665F	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	739					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)			CGTGGCCATCCTCATCTGCAT	0.617000														40			7		0	0	0.003080	0	0
MMRN2	79812	broad.mit.edu	37	10	88702993	88702993	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:88702993C>T	uc001kea.3	-	5	1675	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	MMRN2_uc010qmn.2_Silent_p.E159E|MMRN2_uc009xtb.2_Silent_p.E473E	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	516						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCTGGGTCTCCTCCAGGGCAC	0.667000														36			10		0	0	0.010729	0	0
DISC1	27185	broad.mit.edu	37	1	231906697	231906698	+	Missense_Mutation	DNP	CC	TT	TT	rs150294573	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:231906697_231906698CC>TT	uc010pxh.2	+	6	1664_1665	c.1611_1612CC>TT	c.(1609-1614)acccca>acTTca	p.P538S	DISC1_uc010pwj.1_Missense_Mutation_p.P495S|DISC1_uc010pwk.1_Missense_Mutation_p.P495S|DISC1_uc010pwg.1_Missense_Mutation_p.P495S|DISC1_uc010pwh.1_Missense_Mutation_p.P461S|DISC1_uc010pwi.1_Missense_Mutation_p.P461S|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwq.2_Missense_Mutation_p.P506S|DISC1_uc010pwr.1_Missense_Mutation_p.P506S|DISC1_uc010pws.1_Missense_Mutation_p.P506S|DISC1_uc010pwt.1_Missense_Mutation_p.P506S|DISC1_uc010pwu.1_Missense_Mutation_p.P156S|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.P506S|DISC1_uc001huy.3_Missense_Mutation_p.P506S|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.P506S|DISC1_uc010pxc.1_Missense_Mutation_p.P506S|DISC1_uc010pxe.2_Missense_Mutation_p.P506S|DISC1_uc010pxf.2_Missense_Mutation_p.P506S|DISC1_uc010pxg.2_Missense_Mutation_p.P506S|DISC1_uc010pxd.2_Missense_Mutation_p.P151S|DISC1_uc009xfr.3_Missense_Mutation_p.P461S|DISC1_uc010pxn.1_Missense_Mutation_p.P151S|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.P151S|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Intron|DISC1_uc001huz.3_Missense_Mutation_p.P506S|DISC1_uc001hva.3_Missense_Mutation_p.P506S	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	506	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCGACCTGACCCCACTGGTGGG	0.594000														24			8		0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10351229	10351229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10351229C>T	uc002gmn.3	-	33	4982	c.4871G>A	c.(4870-4872)gGa>gAa	p.G1624E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1624					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						ATTAAGATCTCCCTCCATCTT	0.463000														123			22		0	0	0.014323	0	0
IL1R2	7850	broad.mit.edu	37	2	102638677	102638677	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:102638677C>T	uc002tbm.3	+	5	946	c.717C>T	c.(715-717)atC>atT	p.I239I	IL1R2_uc002tbn.3_Silent_p.I239I|IL1R2_uc002tbo.1_Silent_p.I239I	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	239	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TTCCTGTGATCATTTCCCCCC	0.483000														178			20		0	0	0.014323	0	0
C15orf44	81556	broad.mit.edu	37	15	65891312	65891312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:65891312G>A	uc010uix.2	-	4	999	c.611C>T	c.(610-612)tCc>tTc	p.S204F	C15orf44_uc002apd.3_Missense_Mutation_p.S168F|C15orf44_uc010uja.2_Missense_Mutation_p.S151F|C15orf44_uc010ujb.2_Missense_Mutation_p.S111F|C15orf44_uc002ape.4_Missense_Mutation_p.S168F|C15orf44_uc010uiy.2_Missense_Mutation_p.S89F|C15orf44_uc010uiz.2_Missense_Mutation_p.S132F			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	168	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GCATTCCAAGGAATCGGTGCT	0.428000														47			11		0	0	0.010729	0	0
RAB28	9364	broad.mit.edu	37	4	13476015	13476015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:13476015G>A	uc003gmu.2	-	2	403	c.188C>T	c.(187-189)aCc>aTc	p.T63I	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Missense_Mutation_p.T63I|RAB28_uc011bwz.1_Missense_Mutation_p.T63I	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	63					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AATTTGAAGGGTAACATTCAA	0.303000														91			17		0	0	0.004990	0	0
BCR	613	broad.mit.edu	37	22	23523650	23523650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:23523650C>T	uc002zww.3	+	0	1099	c.503C>T	c.(502-504)cCc>cTc	p.P168L	BCR_uc002zwx.3_Missense_Mutation_p.P168L	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	168	Kinase.				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						CATGGCCAGCCCGGGGCGGAC	0.697000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									56			30		0	0	0.004289	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382513	56382513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56382513C>T	uc002ivx.4	-	29	6324	c.5453G>A	c.(5452-5454)aGg>aAg	p.R1818K	BZRAP1_uc002ivv.3_Missense_Mutation_p.R48K|BZRAP1_uc002ivw.3_Missense_Mutation_p.R50K|BZRAP1_uc010dcs.3_Missense_Mutation_p.R1758K|BZRAP1_uc010wnt.2_Missense_Mutation_p.R1809K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1818	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACCAGGCCCCTTTGTCCATT	0.622000														31			4		0	0	0.000602	0	0
EPC2	26122	broad.mit.edu	37	2	149542258	149542258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:149542258C>T	uc010zbt.2	+	12	2066	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	680					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACATTATACTCCACCAATATG	0.373000														48			8		0	0	0.006214	0	0
TEX14	56155	broad.mit.edu	37	17	56694920	56694920	+	Silent	SNP	G	A	A	rs62081268		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56694920G>A	uc010dcz.2	-	5	733	c.615C>T	c.(613-615)atC>atT	p.I205I	TEX14_uc002iwr.2_Silent_p.I205I|TEX14_uc002iws.2_Silent_p.I205I|TEX14_uc010dda.2_Intron	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	205						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAGCTGTAGATATTTTGAG	0.433000														104			10		0	0	0.001855	0	0
NFATC1	4772	broad.mit.edu	37	18	77170533	77170533	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:77170533C>T	uc010xfg.2	+	1	711	c.258C>T	c.(256-258)ccC>ccT	p.P86P	NFATC1_uc002lnc.1_Silent_p.P86P|NFATC1_uc010xff.1_Silent_p.P86P|NFATC1_uc002lnd.3_Silent_p.P86P|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.P86P|NFATC1_uc010xfi.1_Silent_p.P73P|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.P73P|NFATC1_uc002lng.3_Silent_p.P73P|NFATC1_uc010xfk.2_Silent_p.P73P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	86					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGGATCACCCCTCGGGGTACG	0.726000														43			6		0	0	0.001984	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409578	19409578	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:19409578C>T	uc010tcj.1	-	0		c.36532G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGATCATATTCATTCATTAGC	0.289000														20			6		0	0	0.001984	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665767	19665767	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:19665767G>A	uc002wrl.3	+	11	1283	c.1086G>A	c.(1084-1086)agG>agA	p.R362R		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	362						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAAACAGCAGGGCTTATACCA	0.517000														57			10		0	0	0.002450	0	0
OR13G1	441933	broad.mit.edu	37	1	247836279	247836279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247836279C>T	uc001idi.1	-	0	65	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			GAAGATAATTCCCTGGAGTTC	0.428000														57			9		0	0	0.010729	0	0
ITSN1	6453	broad.mit.edu	37	21	35138184	35138184	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:35138184T>C	uc002yta.1	+	9	1062	c.794T>C	c.(793-795)cTt>cCt	p.L265P	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.L149P|ITSN1_uc002ysy.3_Missense_Mutation_p.L265P|ITSN1_uc002ysx.3_Missense_Mutation_p.L228P|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.L265P|ITSN1_uc010gmg.3_Missense_Mutation_p.L228P|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.L265P|ITSN1_uc010gmi.3_Missense_Mutation_p.L228P|ITSN1_uc002ytb.1_Missense_Mutation_p.L265P|ITSN1_uc002ytc.1_Missense_Mutation_p.L265P|ITSN1_uc010gmk.3_Missense_Mutation_p.L228P|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.L265P|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.L199P|ITSN1_uc021wip.1_Missense_Mutation_p.L159P	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	265	EF-hand 2.|EH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AATAGGAATCTTTCTGACATT	0.358000														39			4		0	0	0.009096	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307958	39307958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:39307958C>T	uc021wwc.1	-	1	179	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CX3CR1_uc021wwa.1_Missense_Mutation_p.D15N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D15N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D15N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D15N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	15					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448000														20			11		0	0	0.010729	0	0
PTPRC	5788	broad.mit.edu	37	1	198685878	198685878	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:198685878G>A	uc001gur.1	+	12	1533	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_uc001gut.1_Silent_p.T290T|PTPRC_uc009wzf.1_Silent_p.T339T|PTPRC_uc021pgy.1_Silent_p.T405T|PTPRC_uc010ppg.1_Silent_p.T387T	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	451	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308000														55			7		0	0	0.001984	0	0
CDH24	64403	broad.mit.edu	37	14	23522741	23522741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23522741G>A	uc001wil.3	-	6	1450	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	CDH24_uc010akf.3_Missense_Mutation_p.S397F|CDH24_uc001win.3_Missense_Mutation_p.S397F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	397	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCAGCCGCGGAGATCTGGCC	0.642000														31			4		0	0	0.009096	0	0
ROS1	6098	broad.mit.edu	37	6	117888030	117888030	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:117888030G>A	uc003pxu.3	-	7	1499	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	ROS1_uc003pxq.1_Silent_p.I188I|DCBLD1_uc003pxs.3_Intron|ROS1_uc003pxv.3_Silent_p.I407I	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	1975					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAATACTTTGATTTCCCCAC	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									23			5		0	0	0.001168	0	0
LGR6	59352	broad.mit.edu	37	1	202287170	202287170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:202287170G>A	uc001gxu.3	+	17	1739	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	LGR6_uc001gxv.3_Missense_Mutation_p.G528E|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.G441E	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	580						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTCTGCAATGGACTGGTGCTG	0.617000														54			24		0	0	0.004656	0	0
CHST12	55501	broad.mit.edu	37	7	2472616	2472616	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:2472616C>T	uc003smc.3	+	1	505	c.342C>T	c.(340-342)agC>agT	p.S114S	CHST12_uc003smd.3_Silent_p.S114S|CHST12_uc021zyu.1_Silent_p.S114S|CHST12_uc021zyv.1_Silent_p.S114S	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	114					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCCGGCGCAGCCCAGACCAGG	0.721000														29			11		0	0	0.013537	0	0
IKBKE	9641	broad.mit.edu	37	1	206651605	206651605	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:206651605C>T	uc001hdz.2	+	8	1493	c.915C>T	c.(913-915)atC>atT	p.I305I	IKBKE_uc009xbu.2_3'UTR|IKBKE_uc001hea.2_Silent_p.I220I|IKBKE_uc009xbv.2_Silent_p.I305I	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	305	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTGACATCCTGCAGCGAG	0.602000														124			17		0	0	0.004990	0	0
RGPD3	653489	broad.mit.edu	37	2	107041458	107041458	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:107041458T>C	uc010ywi.1	-	19	3022	c.2965A>G	c.(2965-2967)Aaa>Gaa	p.K989E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	989					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGAGGTCTTTTTTGCCAAAC	0.393000														141			12		0	0	0.001855	0	0
IRF6	3664	broad.mit.edu	37	1	209961957	209961957	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:209961957C>T	uc001hhq.2	-	8	1516	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	IRF6_uc010psm.2_Silent_p.E309E	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	404					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGAAAACATCTCGTAGATCA	0.468000										HNSCC(57;0.16)				30			10		0	0	0.010729	0	0
IBSP	3381	broad.mit.edu	37	4	88733012	88733012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:88733012G>A	uc003hqx.4	+	6	1002	c.904G>A	c.(904-906)Gga>Aga	p.G302R		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	302					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CTACTTTAAAGGACAAGGCTA	0.463000														83			6		0	0	0.004482	0	0
TMC3	342125	broad.mit.edu	37	15	81625006	81625006	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:81625006G>A	uc021ssk.1	-	21	3057	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	1019						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTGGGTATTGGAAATTCCGGG	0.582000														31			7		0	0	0.006214	0	0
ELF3	1999	broad.mit.edu	37	1	201982372	201982372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:201982372C>T	uc001gxg.4	+	5	3943	c.751C>T	c.(751-753)Cga>Tga	p.R251*	ELF3_uc001gxi.4_Nonsense_Mutation_p.R251*|ELF3_uc001gxh.4_Nonsense_Mutation_p.R251*	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	251					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGCCGGCCCCGAAAGCTGAG	0.637000														41			11		0	0	0.010729	0	0
FAM71A	149647	broad.mit.edu	37	1	212799775	212799775	+	RNA	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:212799775C>T	uc010pth.1	-	0		c.339G>A			FAM71A_uc001hjk.3_Missense_Mutation_p.S519F			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGTTCCGGTTCCAGCAAGGGA	0.542000														40			15		0	0	0.003163	0	0
GNA14	9630	broad.mit.edu	37	9	80144078	80144078	+	Silent	SNP	C	T	T	rs140008129		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:80144078C>T	uc004aku.3	-	1	739	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	72					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.T72M(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AAACCAGCTTCGTGAACCCCT	0.448000														231			31		0	0	0.013726	0	0
SGCG	6445	broad.mit.edu	37	13	23869617	23869617	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:23869617A>C	uc001uom.2	+	5	724	c.569A>C	c.(568-570)cAa>cCa	p.Q190P	SGCG_uc009zzv.2_Missense_Mutation_p.Q190P|SGCG_uc009zzw.2_Missense_Mutation_p.Q190P	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	190					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GACCCGTTTCAAGACCTTAGG	0.423000														69			14		0	0	0.004007	0	0
ITIH2	3698	broad.mit.edu	37	10	7759688	7759688	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:7759688G>A	uc001ijs.3	+	5	729	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGAAGTGGAGGAAGCTGGGCT	0.527000														94			10		0	0	0.008291	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133827	74133827	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74133827G>A	uc002jqx.3	-	2	1228	c.873C>T	c.(871-873)acC>acT	p.T291T	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	291					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGCAGCAGGGTGCTGGGGG	0.716000														32			5		0	0	0.001984	0	0
ACBD3	64746	broad.mit.edu	37	1	226334326	226334326	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:226334326G>A	uc001hpy.3	-	7	1619	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	524	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TAGTATAATAGACTCTGTAGT	0.388000														47			5		0	0	0.001168	0	0
PRRG3	79057	broad.mit.edu	37	X	150869199	150869199	+	Silent	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:150869199C>A	uc022cgt.1	+	3	439	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PRRG3_uc004few.2_Silent_p.P130P	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	130						extracellular region|integral to membrane	calcium ion binding	p.P130H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTCCCCCGGGTCATGG	0.657000														25			8		0.000274275	0.000283902	0.004482	1	0
OR6C68	403284	broad.mit.edu	37	12	55887086	55887086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:55887086C>T	uc010spo.2	+	0	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AATTGCATTTCGTTTAAAAAA	0.279000														29			7		0	0	0.001984	0	0
LILRB1	10859	broad.mit.edu	37	19	55142543	55142543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:55142543G>A	uc002qgj.3	+	2	359	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	LILRB1_uc010erp.1_Missense_Mutation_p.V24I|LILRB1_uc002qgl.3_Missense_Mutation_p.V7I|LILRB1_uc002qgk.3_Missense_Mutation_p.V7I|LILRB1_uc002qgm.3_Missense_Mutation_p.V7I|LILRB1_uc010erq.3_Missense_Mutation_p.V7I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	7					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CATCCTCACGGTCCTGATCTG	0.587000										HNSCC(37;0.09)				40			17		0	0	0.012319	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359877	48359877	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:48359877C>T	uc001rqp.3	+	4	532	c.417C>T	c.(415-417)acC>acT	p.T139T	TMEM106C_uc001rqo.3_Silent_p.T139T|TMEM106C_uc001rqr.3_Silent_p.T139T|TMEM106C_uc001rqq.3_Silent_p.T139T	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	139						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGTAGGCCACCCTGAAAATCA	0.512000														39			8		0	0	0.004482	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996364	19996364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:19996364G>A	uc002ktv.1	-	0	1515	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	471						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCCATAAGGATCTTTTTCT	0.373000														61			5		0	0	0.000602	0	0
OR1D2	4991	broad.mit.edu	37	17	2996057	2996057	+	Silent	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:2996057G>T	uc010vrb.2	-	0	234	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	78					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCATCTTGGGGATTGTGTTGG	0.547000														126			17		2.94398e-08	3.06178e-08	0.007413	1	0
PTCH2	8643	broad.mit.edu	37	1	45293110	45293110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45293110G>A	uc010olf.2	-	14	2347	c.2335C>T	c.(2335-2337)Cgc>Tgc	p.R779C	PTCH2_uc021omv.1_Missense_Mutation_p.R779C|PTCH2_uc010olg.2_Missense_Mutation_p.R477C	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	779					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCAGGTGCGGGGTGCCTGG	0.662000									Basal Cell Nevus syndrome					33			5		0	0	0.001168	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:150840204C>T	uc004fev.4	+	12	1722	c.1390C>T	c.(1390-1392)Ctc>Ttc	p.L464F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	464						nucleus	signal transducer activity	p.L464V(6)|p.L464F(3)|p.S463F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000														41			6		0	0	0.001984	0	0
PLK2	10769	broad.mit.edu	37	5	57755646	57755646	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:57755646G>A	uc003jrn.3	-	0	321	c.141C>T	c.(139-141)tcC>tcT	p.S47S	PLK2_uc021xyx.1_Silent_p.S47S|PLK2_uc011cql.1_5'Flank	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	47					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTTGCGCCTGGGACTGAGGTG	0.677000														33			4		0	0	0.001168	0	0
CDH26	60437	broad.mit.edu	37	20	58567522	58567522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:58567522C>T	uc002ybe.3	+	9	1684	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	CDH26_uc002ybf.1_Missense_Mutation_p.S38F|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	458	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GACCGAGAATCCCCTCATGTA	0.413000														25			6		0	0	0.001984	0	0
EHD3	30845	broad.mit.edu	37	2	31489123	31489123	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:31489123C>T	uc002rnu.3	+	5	1769	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	EHD3_uc010ymt.2_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	387					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACATGCTGGCCCATGACATTG	0.627000														38			5		0	0	0.000602	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150621176	150621176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:150621176C>T	uc001evj.2	-	4	696	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	GOLPH3L_uc010pci.1_Missense_Mutation_p.R116Q	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	160						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GATGCGCTCTCGTACATTTCT	0.398000														62			5		0	0	0.001168	0	0
IKZF5	64376	broad.mit.edu	37	10	124753638	124753638	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124753638C>T	uc001lha.2	-	4	1217	c.918G>A	c.(916-918)caG>caA	p.Q306Q	AK023288_uc021qaj.1_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GAGAGGAGCTCTGAGGAATAC	0.532000														69			15		0	0	0.002450	0	0
LOXL4	84171	broad.mit.edu	37	10	100017476	100017476	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:100017476C>T	uc001kpa.1	-	7	1342	c.1191G>A	c.(1189-1191)caG>caA	p.Q397Q		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	397	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCAACCATTCTGGGACCCTT	0.577000														70			7		0	0	0.001984	0	0
OSMR	9180	broad.mit.edu	37	5	38925388	38925388	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:38925388C>T	uc003jln.2	+	14	2529	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	709	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGAATCCTTCTATGAGTTTT	0.428000														74			8		0	0	0.008291	0	0
MYH4	4622	broad.mit.edu	37	17	10366925	10366926	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:10366925_10366926GG>AA	uc002gmn.3	-	7	794_795	c.683_684CC>TT	c.(682-684)ccc>cTT	p.P228L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	228	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			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						CTTCCAGTAGGGGGTTAGCACT	0.416000														43			10		0	0	0.004672	0	0
ACTN2	88	broad.mit.edu	37	1	236889272	236889272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:236889272G>A	uc001hyf.2	+	4	692	c.488G>A	c.(487-489)aGg>aAg	p.R163K	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.R163K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	163	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGTGTCAGAGGAAAACTGCT	0.478000														134			11		0	0	0.013537	0	0
DMXL2	23312	broad.mit.edu	37	15	51830440	51830440	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:51830440C>A	uc010ufy.2	-	9	1540	c.1315G>T	c.(1315-1317)Gaa>Taa	p.E439*	DMXL2_uc002abf.3_Nonsense_Mutation_p.E439*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.E439*	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	439						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAACCCCGTTCTCTATCCTCC	0.353000														65			6		8.12818e-05	8.41632e-05	0.001984	1	0
CFI	3426	broad.mit.edu	37	4	110663747	110663747	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:110663747G>A	uc011cft.2	-	12	1666	c.1458C>T	c.(1456-1458)aaC>aaT	p.N486N	CFI_uc003hzq.3_Silent_p.N275N|CFI_uc003hzr.4_Silent_p.N478N	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	478	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.N478N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGACTCTTTCGTTATCTAAAC	0.333000														49			5		0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13776782	13776782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:13776782C>T	uc003jfd.2	-	54	9181	c.9139G>A	c.(9139-9141)Gaa>Aaa	p.E3047K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3047	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3046D(1)		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)					CTATTAATTTCATCAATTTCA	0.408000									Kartagener syndrome					43			13		0	0	0.001855	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436235	8436235	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:8436235T>C	uc002mjq.1	+	5	1063	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	ANGPTL4_uc002mjr.1_Missense_Mutation_p.S252P|ANGPTL4_uc010xkc.1_Missense_Mutation_p.S123P	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	290	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCTGCAGTTCTCCGTGCACCT	0.692000														22			7		0	0	0.001984	0	0
KIAA1191	57179	broad.mit.edu	37	5	175774688	175774689	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:175774688_175774689GG>AA	uc003mdw.3	-	8	1204_1205	c.832_833CC>TT	c.(832-834)cca>TTa	p.P278L	KIAA1191_uc003mdx.3_Missense_Mutation_p.P259L|KIAA1191_uc003mdy.3_Missense_Mutation_p.P278L|KIAA1191_uc003mea.3_Missense_Mutation_p.P71L|KIAA1191_uc003mdz.3_Non-coding_Transcript	NM_020444	NP_001073152	Q96A73	K1191_HUMAN	Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA.	278							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.101)		TTCCATCACTGGGATGTCCATC	0.574000														86			12		0	0	0.004672	0	0
KIAA0368	23392	broad.mit.edu	37	9	114135473	114135473	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:114135473T>C	uc004bfe.1	-	41	4847	c.4847A>G	c.(4846-4848)aAt>aGt	p.N1616S		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATACCACCCATTGAGCTTCTG	0.333000														139			11		0	0	0.003163	0	0
TDRD9	122402	broad.mit.edu	37	14	104490932	104490932	+	Missense_Mutation	SNP	C	A	A	rs139118201	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:104490932C>A	uc001yom.4	+	24	2663	c.2633C>A	c.(2632-2634)aCg>aAg	p.T878K	TDRD9_uc001yon.4_Missense_Mutation_p.T616K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	878					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343000														53			12		2.94398e-08	3.06178e-08	0.007413	1	0
NRAP	4892	broad.mit.edu	37	10	115370256	115370256	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:115370256T>C	uc001lal.3	-	30	3729	c.3565A>G	c.(3565-3567)Att>Gtt	p.I1189V	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.I1189V|NRAP_uc001lak.3_Missense_Mutation_p.I1154V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1189						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCCCTTCAATCTCTAACGTG	0.418000														39			8		0	0	0.006214	0	0
RGAG1	57529	broad.mit.edu	37	X	109695723	109695723	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:109695723G>A	uc004eor.2	+	2	2124	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	RGAG1_uc011msr.1_Silent_p.T626T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	626										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCAGGAACGATGTTCACGG	0.502000														39			4		0	0	0.009096	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029438	38029439	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:38029438_38029439CC>TT	uc003onx.3	+	2	597_598	c.182_183CC>TT	c.(181-183)tcc>tTT	p.S61F		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	61							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GATTTGTTTTCCGAAGAGACCA	0.431000														45			5		0	0	0.004672	0	0
PSD4	23550	broad.mit.edu	37	2	113951444	113951444	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:113951444G>A	uc002tjc.3	+	9	2283	c.2100G>A	c.(2098-2100)ggG>ggA	p.G700G	PSD4_uc002tjd.3_Silent_p.G321G|PSD4_uc002tje.3_Silent_p.G671G|PSD4_uc002tjf.3_Silent_p.G321G	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	700	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAACATTGGGAAGAGCATGA	0.547000														50			6		0	0	0.004482	0	0
TDRD5	163589	broad.mit.edu	37	1	179561865	179561865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:179561865G>A	uc010pnp.2	+	1	633	c.115G>A	c.(115-117)Gtt>Att	p.V39I	TDRD5_uc021pfm.1_Missense_Mutation_p.V39I|TDRD5_uc001gnf.2_Missense_Mutation_p.V39I|TDRD5_uc021pfn.1_Missense_Mutation_p.V39I|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	39	Lotus/OST-HTH 1.				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						CCTTTTGATGGTTGGCAACCA	0.507000														106			13		0	0	0.013537	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405666	33405667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33405666_33405667CC>TT	uc011dri.2	+	7	1179_1180	c.984_985CC>TT	c.(982-987)taccgt>taTTgt	p.R329C	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R314C|SYNGAP1_uc010juy.3_Missense_Mutation_p.R314C|SYNGAP1_uc010juz.3_Missense_Mutation_p.R41C	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	329	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCATCTGTACCGTGACTCAGA	0.624000														60			6		0	0	0.004672	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374826	8374826	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:8374826C>T	uc001qui.2	-	6	1546	c.987G>A	c.(985-987)gaG>gaA	p.E329E	FAM90A1_uc001quh.2_Silent_p.E329E	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	329							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTTGGAGATTCTCCGGGGCCC	0.647000														11			4		0	0	0.009096	0	0
FILIP1	27145	broad.mit.edu	37	6	76022611	76022611	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:76022611G>A	uc010kbe.3	-	5	3476	c.2946C>T	c.(2944-2946)tcC>tcT	p.S982S	FILIP1_uc003phy.1_Silent_p.S979S|FILIP1_uc003phz.3_Silent_p.S880S|FILIP1_uc003pia.3_Silent_p.S979S|FILIP1_uc003pib.1_Silent_p.S731S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGTGACTGGGGACATGGCTC	0.443000														53			9		0	0	0.013537	0	0
OR9I1	219954	broad.mit.edu	37	11	57886847	57886848	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:57886847_57886848CC>TT	uc001nml.1	-	0	69_70	c.69_70GG>AA	c.(67-72)ttggag>ttAAag	p.E24K	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGGGGAATCTCCAATTTGGGGT	0.441000														35			5		0	0	0.004672	0	0
AL117485	0	broad.mit.edu	37	22	18844973	18844973	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:18844973G>A	uc002zoe.3	+	3		c.2227G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		AAAGAGCACGGAAATGCAGCG	0.577000														47			11		0	0	0.013537	0	0
ASNA1	439	broad.mit.edu	37	19	12856529	12856529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:12856529C>T	uc002muv.3	+	3	579	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	189					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding	p.R189W(2)		endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	GGGCCTGGGCCGGCTTATGCA	0.642000														34			5		0	0	0.000602	0	0
MMP27	64066	broad.mit.edu	37	11	102575311	102575311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:102575311C>T	uc001phd.1	-	1	321	c.298G>A	c.(298-300)Ggc>Agc	p.G100S		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	100					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AGGGTGTAGCCATACTGGCCC	0.473000														50			16		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9057542	9057542	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:9057542C>T	uc002mkp.3	-	2	30108	c.29904G>A	c.(29902-29904)caG>caA	p.Q9968Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9970	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						TAAGAGTACTCTGTGCTGTAG	0.468000														200			27		0	0	0.010818	0	0
SORCS3	22986	broad.mit.edu	37	10	107012575	107012575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:107012575C>T	uc001kyi.1	+	22	3375	c.3148C>T	c.(3148-3150)Cct>Tct	p.P1050S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1050						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGCCGTGTTTCCTGGTCTCCC	0.512000														65			13		0	0	0.002450	0	0
MUC3A	4584	broad.mit.edu	37	7	100607867	100607867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:100607867G>A	uc003uxl.1	+	4	2514	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	MUC3A_uc003uxk.1_Non-coding_Transcript|AK096803_uc003uxm.1_Non-coding_Transcript|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.1_5'Flank					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CGCCAGCCAGGATGCGAACAG	0.672000														20			4		0	0	0.000602	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189920	70189920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:70189920C>T	uc001opo.3	+	14	2068	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PPFIA1_uc001opn.2_Missense_Mutation_p.S618L|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	618					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GACCTGCTATCGCCCAGCGGG	0.547000														19			4		0	0	0.009096	0	0
SREBF2	6721	broad.mit.edu	37	22	42263110	42263110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:42263110C>T	uc003bbi.3	+	1	533	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	122	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CACCTCAGTTCCCACCACACC	0.582000														72			18		0	0	0.004990	0	0
C10orf71	118461	broad.mit.edu	37	10	50531167	50531167	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:50531167C>T	uc021pqb.1	+	0	577	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	C10orf71_uc021pqa.1_Silent_p.L192L|C10orf71_uc021pqc.1_Silent_p.L193L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	193										endometrium(1)	1						TTCTGCCTTTCTGACAGTCAG	0.542000														25			4		0	0	0.001168	0	0
GJA5	2702	broad.mit.edu	37	1	147230527	147230527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:147230527C>T	uc021ovl.1	-	0	820	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	GJA5_uc001eps.1_Missense_Mutation_p.G274S|GJA5_uc001ept.1_Missense_Mutation_p.G274S	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	274					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCCCCAGGGCCATTCTCCAGG	0.552000														68			22		0	0	0.003330	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235895	63235895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:63235895G>A	uc001nwy.2	-	3	592	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HRASLS5_uc001nwz.2_Nonsense_Mutation_p.R130*|HRASLS5_uc010rmq.1_Nonsense_Mutation_p.R140*|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	140										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAGCCAATTCGAAAAATCTCA	0.418000														87			10		0	0	0.010729	0	0
IGSF1	3547	broad.mit.edu	37	X	130412580	130412580	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:130412580G>A	uc004ewe.4	-	11	2194	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	IGSF1_uc004ewd.3_Silent_p.I632I|IGSF1_uc022cdv.1_Silent_p.I623I|IGSF1_uc004ewf.2_Silent_p.I612I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	632	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCGAGTGGCGATCCACCCGG	0.617000														29			7		0	0	0.001984	0	0
TTC21A	199223	broad.mit.edu	37	3	39174603	39174603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:39174603C>T	uc003cjc.2	+	19	2821	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S	TTC21A_uc011ayx.1_Missense_Mutation_p.P834S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_Missense_Mutation_p.P3S|TTC21A_uc003cjf.2_Missense_Mutation_p.P3S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	882							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGAAATGATTCCCTCCCAGAA	0.502000														43			8		0	0	0.003080	0	0
HNF1A	6927	broad.mit.edu	37	12	121426657	121426657	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121426657G>A	uc001tzg.3	+	1	371	c.348G>A	c.(346-348)gcG>gcA	p.A116A	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.A116A|HNF1A_uc001tzf.3_Silent_p.A116A|HNF1A_uc010szn.2_Silent_p.A116A|HNF1A_uc021rfa.1_Silent_p.A116A|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	116					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCGTGTGGCGAAGATGGTCA	0.627000									Hepatic Adenoma, Familial Clustering of					171			22		0	0	0.002780	0	0
OR2J2	26707	broad.mit.edu	37	6	29142132	29142132	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:29142132G>A	uc011dlm.2	+	0	822	c.720G>A	c.(718-720)agG>agA	p.R240R		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGTGTTTAGGACATGTGGAG	0.458000														137			9		0	0	0.004482	0	0
AHRR	57491	broad.mit.edu	37	5	427986	427986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:427986C>T	uc003jav.3	+	8	882	c.839C>T	c.(838-840)gCc>gTc	p.A280V	AHRR_uc003jaw.3_Missense_Mutation_p.A262V|AHRR_uc010isy.3_Missense_Mutation_p.A108V|AHRR_uc010isz.3_Missense_Mutation_p.A258V|AHRR_uc003jax.3_Missense_Mutation_p.A21V|AHRR_uc003jay.3_Missense_Mutation_p.A118V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGTCAGGAGCCATGCTCCCG	0.552000														24			4		0	0	0.009096	0	0
OR2C3	81472	broad.mit.edu	37	1	247695169	247695169	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:247695169G>A	uc021pmb.1	-	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.I215I	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AAGAGACCAGGATGAGCCCCA	0.552000														26			14		0	0	0.003163	0	0
SYNE1	23345	broad.mit.edu	37	6	152652268	152652268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:152652268G>A	uc021zhb.1	-	75	13775	c.13552C>T	c.(13552-13554)Cgc>Tgc	p.R4518C	SYNE1_uc003qot.4_Missense_Mutation_p.R4447C|SYNE1_uc003qou.4_Missense_Mutation_p.R4518C|SYNE1_uc010kiz.3_Missense_Mutation_p.R273C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4518					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTAGTTCGCGACCCTGGGCC	0.458000										HNSCC(10;0.0054)				54			8		0	0	0.003080	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21242929	21242929	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:21242929C>T	uc010sil.2	+	15	2201	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	SLCO1B3_uc010sim.2_Silent_p.S651S|SLCO1B3_uc010sin.2_Silent_p.S604S			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	651					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGAAAAAATCCCATGGAAAGG	0.343000														19			4		0	0	0.009096	0	0
DNAH7	56171	broad.mit.edu	37	2	196791250	196791250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:196791250C>T	uc002utj.4	-	21	3613	c.3512G>A	c.(3511-3513)cGa>cAa	p.R1171Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1171	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1171Q(2)|p.R1171G(1)		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						CCAGTTAATTCGTTCATATTT	0.353000														43			8		0	0	0.010729	0	0
TMEM145	284339	broad.mit.edu	37	19	42818673	42818673	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:42818673G>T	uc002otk.1	+	2	318	c.266G>T	c.(265-267)gGg>gTg	p.G89V		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	89						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TACAAGGCAGGGGACAAGGTG	0.617000														70			23		7.33628e-21	7.65058e-21	0.014323	1	0
ZNF652	22834	broad.mit.edu	37	17	47389359	47389359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:47389359G>A	uc002iov.4	-	3	1558	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	ZNF652_uc002iow.3_Missense_Mutation_p.S365L|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCGTTTGAATGATTTTCCACA	0.448000														66			9		0	0	0.010729	0	0
EVPL	2125	broad.mit.edu	37	17	74005812	74005812	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:74005812G>A	uc010wss.1	-	21	3768	c.3540C>T	c.(3538-3540)ctC>ctT	p.L1180L	EVPL_uc002jqi.2_Silent_p.L1158L|EVPL_uc010wst.1_Silent_p.L628L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1158	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCCTCGAGGAGGCTCCTCA	0.632000														30			4		0	0	0.000602	0	0
F9	2158	broad.mit.edu	37	X	138633289	138633289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:138633289C>T	uc004fas.1	+	5	618	c.589C>T	c.(589-591)Cct>Tct	p.P197S	F9_uc004fat.1_Missense_Mutation_p.P159S	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	197					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GACTGTTTTTCCTGATGTGGA	0.388000														33			7		0	0	0.003080	0	0
CASS4	57091	broad.mit.edu	37	20	55033445	55033445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:55033445G>A	uc002xxp.2	+	6	2228	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	CASS4_uc010zze.1_Missense_Mutation_p.R614K|CASS4_uc002xxr.2_Missense_Mutation_p.R668K|CASS4_uc010gio.2_Missense_Mutation_p.R231K	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	668					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACTCCTGAGAGGAAACCCCGC	0.532000														44			6		0	0	0.001984	0	0
RBBP6	5930	broad.mit.edu	37	16	24582793	24582793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24582793C>T	uc002dmh.3	+	17	5446	c.4406C>T	c.(4405-4407)cCc>cTc	p.P1469L	RBBP6_uc002dmi.3_Missense_Mutation_p.P1435L|RBBP6_uc010bxr.3_Missense_Mutation_p.P629L|RBBP6_uc002dmk.3_Missense_Mutation_p.P1302L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1469	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GACTTCACTCCCAATAGAGAC	0.368000														33			5		0	0	0.001984	0	0
ZNF667	63934	broad.mit.edu	37	19	56973722	56973722	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:56973722C>T	uc002qne.3	-	3	809	c.18G>A	c.(16-18)ggG>ggA	p.G6G	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Silent_p.G6G|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R5R(1)		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)		ATTTGGATTTCCCCCGTGCAG	0.532000														93			25		0	0	0.004656	0	0
C6	729	broad.mit.edu	37	5	41176728	41176728	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:41176728C>T	uc003jmk.2	-	7	1227	c.1017G>A	c.(1015-1017)ttG>ttA	p.L339L	C6_uc003jml.1_Silent_p.L339L|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	339	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAAGTGCTTTCAAAAAGACAT	0.398000														42			7		0	0	0.004482	0	0
PROZ	8858	broad.mit.edu	37	13	113814380	113814380	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:113814380G>A	uc001vta.1	+	1	130	c.123G>A	c.(121-123)gcG>gcA	p.A41A	PROZ_uc010agr.1_Silent_p.A63A	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	41	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGAAGCGTGCGGGCTCCTATC	0.488000														123			11		0	0	0.008291	0	0
TUBB3	10381	broad.mit.edu	37	16	90002125	90002125	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:90002125C>T	uc002fpf.2	+	4	2715	c.2307C>T	c.(2305-2307)taC>taT	p.Y769Y	TUBB3_uc010ciz.1_Silent_p.Y350Y|TUBB3_uc002fph.2_Silent_p.Y422Y|TUBB3_uc002fpj.1_Silent_p.Y350Y|TUBB3_uc002fpk.1_Silent_p.Y276Y	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	422					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCCGAGTACCAGCAGTACC	0.642000														31			6		0	0	0.001168	0	0
TLR4	7099	broad.mit.edu	37	9	120475736	120475736	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:120475736C>T	uc004bjz.3	+	2	1621	c.1330C>T	c.(1330-1332)Cta>Tta	p.L444L	TLR4_uc004bkb.3_Silent_p.L244L|TLR4_uc004bka.3_Silent_p.L404L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	444					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCAGTATTCCTATCACTCAG	0.383000														54			10		0	0	0.006214	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244587	134244587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:134244587C>T	uc001qhp.3	+	17	1987	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	600					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCCAGGTCCCTGGTTGAGC	0.592000														64			17		0	0	0.007413	0	0
MYO5B	4645	broad.mit.edu	37	18	47488732	47488732	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:47488732G>A	uc002leb.2	-	11	1737	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	MYO5B_uc021ukb.1_Silent_p.I482I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	483	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGTCCAAGGGATCTGTTCCT	0.428000														28			4		0	0	0.009096	0	0
DNAH9	1770	broad.mit.edu	37	17	11593689	11593689	+	Missense_Mutation	SNP	G	A	A	rs139715944		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:11593689G>A	uc002gne.3	+	19	4618	c.4550G>A	c.(4549-4551)cGa>cAa	p.R1517Q	DNAH9_uc010coo.3_Missense_Mutation_p.R811Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1517	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1517*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGTGCAGCGAACATGGACT	0.483000														50			10		0	0	0.008291	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332688	99332688	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:99332688T>C	uc003uru.3	-	0	132	c.29A>G	c.(28-30)gAa>gGa	p.E10G	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Missense_Mutation_p.E10G	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	10					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAGCCAGGTTTCCACGGCCAA	0.502000														45			9		0	0	0.006214	0	0
RNF128	79589	broad.mit.edu	37	X	106038899	106038899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:106038899G>A	uc004eml.3	+	6	1493	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	RNF128_uc004emk.3_Missense_Mutation_p.E389K	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	415						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAAGAAGACGAAACTCCTAA	0.363000														70			35		0	0	0.006999	0	0
TOX2	84969	broad.mit.edu	37	20	42635225	42635225	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:42635225G>A	uc010ggo.3	+	2	244	c.204G>A	c.(202-204)gaG>gaA	p.E68E	TOX2_uc002xle.4_Silent_p.E26E|TOX2_uc010ggp.3_Silent_p.E26E|TOX2_uc002xlf.4_Silent_p.E77E|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AAGACTATGAGATCCCCCCGA	0.577000														50			14		0	0	0.002450	0	0
DQX1	165545	broad.mit.edu	37	2	74751156	74751156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74751156C>T	uc010yrw.2	-	3	875	c.710G>A	c.(709-711)tGg>tAg	p.W237*	DQX1_uc002smc.3_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	237						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						GATGGTGTCCCAGTAGATGGG	0.557000														37			9		0	0	0.010729	0	0
NDN	4692	broad.mit.edu	37	15	23931706	23931706	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:23931706C>G	uc001ywk.3	-	0	745	c.659G>C	c.(658-660)cGg>cCg	p.R220P		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	220	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTTCCAGGGCCGCAGCCCCAG	0.607000									Prader-Willi syndrome					20			15		0	0	0.004990	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164849	85164849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:85164849G>A	uc002bkr.3	+	2	1649	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ZSCAN2_uc010bmz.1_Missense_Mutation_p.E473K|ZSCAN2_uc010bna.3_Missense_Mutation_p.E325K|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	475					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAAACCCTACGAGTGCCTGAC	0.572000														23			4		0	0	0.000602	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116842	106116842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:106116842C>T	uc004emo.3	+	20	3175	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	1004						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAACTTATTTCATGAGGACCC	0.353000														35			20		0	0	0.008871	0	0
DNAH10	196385	broad.mit.edu	37	12	124298348	124298348	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:124298348C>T	uc001uft.4	+	19	3340	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L	DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1105	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGAAGATCTCAAGTTTGTCC	0.408000														19			4		0	0	0.009096	0	0
FAM129A	116496	broad.mit.edu	37	1	184787840	184787840	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:184787840A>G	uc001gra.3	-	8	1299	c.1105T>C	c.(1105-1107)Ttt>Ctt	p.F369L	FAM129A_uc001grb.1_Missense_Mutation_p.F132L|FAM129A_uc009wyh.1_Missense_Mutation_p.F197L|FAM129A_uc009wyi.1_Missense_Mutation_p.F167L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	369					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						TCTTTCTCAAAGAGTACACGT	0.512000														101			35		0	0	0.003271	0	0
GML	2765	broad.mit.edu	37	8	143927822	143927822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:143927822C>T	uc003yxg.3	+	3	283	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	65	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.R65C(2)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATAAATTCTCGTGAACTACT	0.343000														32			4		0	0	0.009096	0	0
OR1D2	4991	broad.mit.edu	37	17	2996055	2996055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:2996055G>A	uc010vrb.2	-	0	236	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	79					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGCATCTTGGGGATTGTGTT	0.547000														127			16		0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54307588	54307588	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:54307588A>T	uc021smr.1	+	0	2488	c.2488A>T	c.(2488-2490)Atg>Ttg	p.M830L	UNC13C_uc021sms.1_Missense_Mutation_p.M830L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	830					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)		CTCTTCATTAATGGGGAGATT	0.438000														29			11		0	0	0.013537	0	0
PLCB4	5332	broad.mit.edu	37	20	9417787	9417787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:9417787G>A	uc021wam.1	+	25	2731	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	PLCB4_uc010gbw.1_Missense_Mutation_p.E906K|PLCB4_uc010gbx.3_Missense_Mutation_p.E918K|PLCB4_uc021wal.1_Missense_Mutation_p.E906K|PLCB4_uc002wnh.3_Missense_Mutation_p.E753K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	906					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E906D(1)		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						CTCTGGTGTGGAAGCCAAGAA	0.478000														31			10		0	0	0.001855	0	0
ANO3	63982	broad.mit.edu	37	11	26620468	26620468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:26620468G>A	uc001mqt.4	+	15	1739	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	ANO3_uc010rdr.2_Missense_Mutation_p.G516R|ANO3_uc010rds.2_Missense_Mutation_p.G371R|ANO3_uc010rdt.2_Missense_Mutation_p.G386R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	532						chloride channel complex	chloride channel activity			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						TCCCATCACGGGAAAACCTGA	0.403000														21			8		0	0	0.006214	0	0
AR	367	broad.mit.edu	37	X	66765853	66765853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:66765853G>A	uc004dwu.2	+	0	1980	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	AR_uc011mpd.2_Missense_Mutation_p.E289K|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.E289K|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.E289K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	287	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.E289K(2)|p.A288D(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CCCATTGGCCGAATGCAAAGG	0.562000									Androgen Insensitivity Syndrome					15			4		0	0	0.000602	0	0
LELP1	149018	broad.mit.edu	37	1	153177294	153177294	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153177294G>A	uc001fbl.3	+	1	221	c.111G>A	c.(109-111)aaG>aaA	p.K37K	LELP1_uc021ozv.1_Silent_p.K37K	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	37	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTTTAAAGAAGCTGCTGC	0.512000														56			21		0	0	0.014323	0	0
ATP12A	479	broad.mit.edu	37	13	25274926	25274926	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:25274926A>T	uc010aaa.3	+	12	2098	c.1765A>T	c.(1765-1767)Acc>Tcc	p.T589S	ATP12A_uc001upp.3_Missense_Mutation_p.T583S	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	583					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTTTCCAGAAACCTACTCATT	0.438000														48			8		0	0	0.008291	0	0
RNF43	54894	broad.mit.edu	37	17	56435504	56435504	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:56435504A>G	uc002iwf.3	-	7	3589	c.1633T>C	c.(1633-1635)Tcc>Ccc	p.S545P	RNF43_uc010wnv.2_Missense_Mutation_p.S504P|RNF43_uc002iwh.4_Missense_Mutation_p.S545P|RNF43_uc002iwg.4_Missense_Mutation_p.S545P|RNF43_uc010dcw.3_Missense_Mutation_p.S418P	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	545						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACATGGCTGGAAACCTGGGTT	0.622000														57			9		0	0	0.006214	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452203	64452203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:64452203G>A	uc011kdr.2	-	1	1796	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.S401F	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	401						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttggtaccaagaatggtttaa	0.473000														20			7		0	0	0.001984	0	0
PION	54103	broad.mit.edu	37	7	77006657	77006657	+	Silent	SNP	G	A	A	rs138204887	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:77006657G>A	uc003ugf.3	-	8	706	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	209					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCCCAAACGAAATCCTCAG	0.303000														128			25		0	0	0.006320	0	0
WDFY3	23001	broad.mit.edu	37	4	85623601	85623601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:85623601G>A	uc003hpd.3	-	55	8909	c.8501C>T	c.(8500-8502)tCa>tTa	p.S2834L	WDFY3_uc003hpe.1_Missense_Mutation_p.S445L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2834	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTTGACGCTGAATACCAGGC	0.458000														32			8		0	0	0.004482	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278309	21278309	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:21278309G>A	uc003zou.1	-	0		c.254C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		TTGTCTAAAAGGGTCGCATCC	0.463000														29			4		0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	114031305	114031305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:114031305G>A	uc003ynu.3	-	5	1180	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	CSMD3_uc003ynt.3_Missense_Mutation_p.P301S|CSMD3_uc011lhx.2_Missense_Mutation_p.P341S|CSMD3_uc010mcx.1_Missense_Mutation_p.P341S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	341	CUB 2.					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						CCTTGATAGGGAGCACTAAAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				31			23		0	0	0.003330	0	0
C6	729	broad.mit.edu	37	5	41203264	41203264	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:41203264G>A	uc003jmk.2	-	1	279	c.69C>T	c.(67-69)ttC>ttT	p.F23F	C6_uc003jml.1_Silent_p.F23F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	23	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTGATCACAGAAGCAGGCTT	0.507000														87			9		0	0	0.004482	0	0
KCNB1	3745	broad.mit.edu	37	20	47991332	47991332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:47991332C>T	uc002xur.1	-	1	931	c.765G>A	c.(763-765)tgG>tgA	p.W255*	KCNB1_uc002xus.1_Nonsense_Mutation_p.W255*	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	255					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.K254K(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAAGAACTTCCACTTCTTGG	0.542000														28			5		0	0	0.001168	0	0
MON2	23041	broad.mit.edu	37	12	62938768	62938768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:62938768C>T	uc001sre.3	+	20	2948	c.2557C>T	c.(2557-2559)Cct>Tct	p.P853S	MON2_uc010ssn.2_Missense_Mutation_p.P853S|MON2_uc009zqj.3_Missense_Mutation_p.P853S|MON2_uc010ssl.2_Missense_Mutation_p.P781S|MON2_uc010ssm.2_Missense_Mutation_p.P830S|MON2_uc001srf.3_Missense_Mutation_p.P616S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	854					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAACCATGATCCTCCACTCTC	0.348000														32			5		0	0	0.001168	0	0
UNC93A	54346	broad.mit.edu	37	6	167708163	167708163	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:167708163C>T	uc003qvq.3	+	1	421	c.246C>T	c.(244-246)tcC>tcT	p.S82S	UNC93A_uc003qvr.3_Silent_p.S82S	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	82						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCTTCTCCGTGGGCAACT	0.637000														102			11		0	0	0.001855	0	0
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:47120418C>T	uc001wwg.3	-	0	611	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	174					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507000														69			13		0	0	0.003163	0	0
MAST1	22983	broad.mit.edu	37	19	12976231	12976231	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:12976231C>T	uc002mvm.3	+	14	1868	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	580	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTACGAGTTCCTGGTGGGCT	0.592000														71			19		0	0	0.007413	0	0
P2RY10	27334	broad.mit.edu	37	X	78216634	78216634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:78216634G>A	uc022bzl.1	+	0	617	c.617G>A	c.(616-618)gGa>gAa	p.G206E	P2RY10_uc004ede.3_Missense_Mutation_p.G206E|P2RY10_uc004edf.3_Missense_Mutation_p.G206E	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGCTTGCAGGATTTGTGATC	0.458000														17			9		0	0	0.004482	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036359	71036359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:71036359G>A	uc003tvy.3	+	5	1052	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	WBSCR17_uc003tvz.3_Missense_Mutation_p.G50E	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	351	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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)				GATGTATACGGAGGAGAAAAT	0.522000														74			27		0	0	0.007291	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935675	151935675	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:151935675G>A	uc022chl.1	-	0	492	c.492C>T	c.(490-492)atC>atT	p.I164I	MAGEA3_uc004fgp.3_Silent_p.I164I	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	164	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTCGATGCCAAAGA	0.532000														36			25		0	0	0.003954	0	0
NLRP10	338322	broad.mit.edu	37	11	7981498	7981498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:7981498G>A	uc001mfv.1	-	1	1678	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	554							ATP binding	p.S554Y(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGCTTCATAGATTCCATCTG	0.388000														35			12		0	0	0.001855	0	0
SDHA	6389	broad.mit.edu	37	5	225537	225538	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:225537_225538GG>AA	uc011clv.1	+	3	431_432	c.316_317GG>AA	c.(316-318)gga>AAa	p.G106K	SDHA_uc003jao.4_Missense_Mutation_p.G106K|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_5'Flank|SDHA_uc021xvu.1_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	106					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)	TTTCCAGGGAGGAATCAATGCT	0.569000									Familial Paragangliomas					38			7		0	0	0.004672	0	0
OTOP1	133060	broad.mit.edu	37	4	4198981	4198981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:4198981G>A	uc003ghp.1	-	4	1610	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	527					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGCGGACTGGGCTTGGGCT	0.537000														53			7		0	0	0.003080	0	0
SIX4	51804	broad.mit.edu	37	14	61180413	61180413	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:61180413C>T	uc001xfc.3	-	2	2118	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	686						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAACTATTTCCCCAAGGGCAG	0.473000														35			6		0	0	0.001984	0	0
C15orf39	56905	broad.mit.edu	37	15	75499420	75499420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:75499420C>T	uc002azp.4	+	1	1351	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	C15orf39_uc002azq.4_Missense_Mutation_p.P344L|C15orf39_uc021sqm.1_Missense_Mutation_p.P103L|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	344										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GACGCTTACCCCTACCCCTCT	0.667000														69			6		0	0	0.001984	0	0
F5	2153	broad.mit.edu	37	1	169510306	169510306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:169510306G>A	uc001ggg.1	-	12	4167	c.4022C>T	c.(4021-4023)cCa>cTa	p.P1341L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1341	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1341A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.527000														197			69		0	0	0.014410	0	0
ATP11A	23250	broad.mit.edu	37	13	113478715	113478715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:113478715C>T	uc001vsj.4	+	9	936	c.848C>T	c.(847-849)tCt>tTt	p.S283F	ATP11A_uc001vsi.4_Missense_Mutation_p.S283F|ATP11A_uc001vsm.1_Missense_Mutation_p.S159F	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	283					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(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAATCAAAATCTCAGAAGCGA	0.458000														58			9		0	0	0.004482	0	0
OR13A1	79290	broad.mit.edu	37	10	45798916	45798916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:45798916G>A	uc001jcc.1	-	3	1264	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	OR13A1_uc001jcd.1_Missense_Mutation_p.L315F|OR13A1_uc021ppq.1_Missense_Mutation_p.L319F	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCTTCCTGAGGGCTGCTTTG	0.473000														71			9		0	0	0.008291	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000														40			15		0	0	0.004007	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140656	143140656	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143140656C>T	uc011ktg.2	+	0	111	c.111C>T	c.(109-111)ttC>ttT	p.F37F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	37					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCAATGGCTTCATCACTGCTG	0.498000														102			20		0	0	0.010504	0	0
RAB13	5872	broad.mit.edu	37	1	153957211	153957211	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:153957211G>A	uc001fdt.1	-	1	265	c.171C>T	c.(169-171)atC>atT	p.I57I	RAB13_uc001fdu.1_Silent_p.I57I	NM_002870	NP_002861	P51153	RAB13_HUMAN	Homo sapiens RAB13, member RAS oncogene family (RAB13), mRNA.	57					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	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)			CTTGTAGTTTGATCTTCTTCC	0.443000														24			13		0	0	0.004007	0	0
THSD1	55901	broad.mit.edu	37	13	52960230	52960230	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:52960230G>C	uc001vgo.3	-	3	1658	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	THSD1_uc001vgp.3_Intron|THSD1_uc010tgz.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	371	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GACTGGAGGGGAAGGAAGTGA	0.582000														68			8		0	0	0.004482	0	0
RBP3	5949	broad.mit.edu	37	10	48388840	48388840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:48388840C>T	uc001jez.3	-	0	2152	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	680	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)	GCCAGAGACTCCAAGTCCACA	0.662000														35			4		0	0	0.009096	0	0
C6orf222	389384	broad.mit.edu	37	6	36293117	36293117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:36293117G>A	uc003oly.3	-	5	1289	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	371										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCTCTGATGGGGTGGGAAGC	0.562000														53			10		0	0	0.006214	0	0
C10orf120	399814	broad.mit.edu	37	10	124457458	124457458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:124457458G>A	uc001lgn.3	-	2	831	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	267										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTGCGGGGAGGAATGATTTG	0.368000														59			5		0	0	0.001168	0	0
CTSL3	392360	broad.mit.edu	37	9	90387866	90387866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:90387866G>A	uc004apm.1	+	0	37	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						GGAATACAGGGAAGGGAAACA	0.473000														40			5		0	0	0.001984	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728884	3728884	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:3728884G>A	uc002wjd.3	+	7	838	c.696G>A	c.(694-696)gaG>gaA	p.E232E	HSPA12B_uc010zqj.2_Silent_p.E66E|HSPA12B_uc010zqi.2_Silent_p.E231E|HSPA12B_uc002wje.3_Silent_p.E145E	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	232							ATP binding	p.R231R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TGTCCCGAGAGAATGCAGAGC	0.662000														48			17		0	0	0.007413	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927554	35927554	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35927554G>A	uc003olm.3	-	14	1779	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.F138F|SLC26A8_uc003oll.3_Silent_p.F451F|SLC26A8_uc003oln.3_Silent_p.F556F	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	556	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGCAGCACTGGAAGATTTTCA	0.393000														79			18		0	0	0.006122	0	0
ITGA5	3678	broad.mit.edu	37	12	54797424	54797424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:54797424C>T	uc001sga.3	-	16	1829	c.1761G>A	c.(1759-1761)atG>atA	p.M587I		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	587					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGTAGATCTTCATCTCTCTGC	0.622000														53			5		0	0	0.001168	0	0
CPXM2	119587	broad.mit.edu	37	10	125539747	125539747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:125539747C>T	uc001lhk.1	-	6	1239	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R305L(2)		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)		CATCTCGTTCCGGCGGTGATA	0.443000														86			21		0	0	0.014323	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260627	42260627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:42260627C>T	uc002orm.2	+	1	333	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	62	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCCCCAGAATCGTATTGGTTA	0.512000														87			8		0	0	0.003080	0	0
LYST	1130	broad.mit.edu	37	1	235884159	235884159	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:235884159T>A	uc001hxj.2	-	39	9537	c.9362A>T	c.(9361-9363)aAt>aTt	p.N3121I	LYST_uc001hxi.2_Missense_Mutation_p.N345I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3121	BEACH.				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)			TTCCAGAAGATTAGGGAGGTT	0.343000														51			8		0	0	0.006214	0	0
PIGX	54965	broad.mit.edu	37	3	196454969	196454969	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:196454969T>G	uc010iaj.3	+	3	653	c.494T>G	c.(493-495)gTg>gGg	p.V165G	PIGX_uc003fwx.4_Missense_Mutation_p.V165G|PIGX_uc011btx.2_Non-coding_Transcript	NM_001166304	NP_001159776	Q8TBF5	PIGX_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class X (PIGX), transcript variant 1, mRNA.	165					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GCCTCGATTGTGGTCAATAAC	0.473000														30			4		0	0	0.001168	0	0
FPR3	2359	broad.mit.edu	37	19	52327944	52327944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:52327944C>T	uc002pxt.1	+	1	1127	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	FPR3_uc021uyq.1_Missense_Mutation_p.R315C	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	315					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R315C(2)|p.R315R(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507000														58			7		0	0	0.003080	0	0
PPYR1	5540	broad.mit.edu	37	10	47087077	47087077	+	Silent	SNP	C	T	T	rs148299885	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:47087077C>T	uc001jee.3	+	2	713	c.294C>T	c.(292-294)acC>acT	p.T98T	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.T98T|PPYR1_uc021ppu.1_Silent_p.T98T	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	98					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						AGCCGCTGACCGCCGTCTACA	0.567000														92			12		0	0	0.010729	0	0
SPRR3	6707	broad.mit.edu	37	1	152975587	152975587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:152975587G>A	uc021ozo.1	+	0	91	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SPRR3_uc001fax.4_Missense_Mutation_p.E31K|SPRR3_uc001faz.4_Missense_Mutation_p.E31K|SPRR3_uc001fay.2_Missense_Mutation_p.E31K	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	31					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACCTCAGGAAATATTTGT	0.522000														33			6		0	0	0.001984	0	0
KAZN	23254	broad.mit.edu	37	1	15392187	15392187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:15392187C>T	uc001avm.4	+	7	1441	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	KAZN_uc009vog.1_Missense_Mutation_p.S387F|KAZN_uc001avo.2_Missense_Mutation_p.S381F|KAZN_uc001avp.2_Missense_Mutation_p.S293F|KAZN_uc001avq.2_Missense_Mutation_p.S293F|KAZN_uc001avr.2_3'UTR	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	387					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGATTCGGCTCCATCTCCCGC	0.557000														44			7		0	0	0.001984	0	0
KRT6B	3854	broad.mit.edu	37	12	52841600	52841600	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:52841600G>A	uc001sak.3	-	6	1434	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	462	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.I462I(2)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGTAGGTGGCGATCTCCACAT	0.612000														65			22		0	0	0.002780	0	0
VPS13B	157680	broad.mit.edu	37	8	100403879	100403879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:100403879C>T	uc003yiv.3	+	20	3140	c.3029C>T	c.(3028-3030)tCa>tTa	p.S1010L	VPS13B_uc003yiw.3_Missense_Mutation_p.S1010L|VPS13B_uc003yiu.1_Missense_Mutation_p.S1010L|VPS13B_uc003yix.1_Missense_Mutation_p.S480L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1010					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGCAGCAATCATATCAGGCC	0.448000														39			8		0	0	0.003080	0	0
DCTN1	1639	broad.mit.edu	37	2	74594007	74594007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:74594007G>A	uc002skx.3	-	20	2687	c.2369C>T	c.(2368-2370)tCa>tTa	p.S790L	DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Missense_Mutation_p.S656L|DCTN1_uc002sku.3_Missense_Mutation_p.S656L|DCTN1_uc002skw.2_Missense_Mutation_p.S783L|DCTN1_uc010ffd.3_Missense_Mutation_p.S770L|DCTN1_uc002sky.3_Missense_Mutation_p.S753L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	790					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTCACTGCATGAAGTTTCCAG	0.532000														46			6		0	0	0.001984	0	0
CRB1	23418	broad.mit.edu	37	1	197396979	197396979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:197396979G>A	uc001gtz.3	+	6	2733	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	CRB1_uc010poz.2_Missense_Mutation_p.E773K|CRB1_uc009wza.3_Missense_Mutation_p.E730K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.E323K|CRB1_uc001gub.1_Missense_Mutation_p.E491K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	842	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAAGAGACTGAACTTAATGG	0.388000														32			7		0	0	0.006214	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143747706C>T	uc011ktw.2	+	0	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000														50			9		0	0	0.008291	0	0
CABP1	9478	broad.mit.edu	37	12	121098586	121098586	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:121098586C>T	uc001tyu.3	+	3	949	c.882C>T	c.(880-882)ctC>ctT	p.L294L	CABP1_uc001tyv.3_Silent_p.L151L|CABP1_uc001tyw.3_Silent_p.L91L|CABP1_uc001tyx.3_Silent_p.L136L	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	294	EF-hand 2.					Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTAAACTCCTGGCAGAGA	0.527000														253			26		0	0	0.010818	0	0
TRRAP	8295	broad.mit.edu	37	7	98507905	98507905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:98507905C>T	uc003upp.3	+	14	1786	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	TRRAP_uc011kis.2_Missense_Mutation_p.P526L|TRRAP_uc003upr.3_Missense_Mutation_p.P218L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	526	Pro-rich.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGTGCCTCCCTTCGAGAAG	0.627000														28			6		0	0	0.001168	0	0
CELSR3	1951	broad.mit.edu	37	3	48685349	48685349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:48685349G>A	uc003cuf.1	-	21	7264	c.7264C>T	c.(7264-7266)Cga>Tga	p.R2422*	CELSR3_uc010hkg.3_Nonsense_Mutation_p.R335*|CELSR3_uc003cul.3_Nonsense_Mutation_p.R2352*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2352					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)		TCCTGGCCTCGAAAGAGGTTG	0.632000														113			14		0	0	0.004007	0	0
KIAA0564	23078	broad.mit.edu	37	13	42465620	42465620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr13:42465620C>T	uc001uyj.3	-	4	657	c.587G>A	c.(586-588)aGa>aAa	p.R196K	KIAA0564_uc001uyk.3_Missense_Mutation_p.R196K	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	196						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTGCATCTCTCTGTTTTCCAG	0.453000														85			8		0	0	0.003080	0	0
PIPSL	266971	broad.mit.edu	37	10	95719960	95719960	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:95719960C>T	uc009xuj.2	-	0	1713	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		AGGGAATCTTCTTAAATACCG	0.502000														36			9		0	0	0.008291	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215768	130215768	+	Silent	SNP	C	T	T	rs150725005	byFrequency	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:130215768C>T	uc004evz.3	+	1	474	c.129C>T	c.(127-129)ccC>ccT	p.P43P	ARHGAP36_uc004ewa.3_Silent_p.P31P|ARHGAP36_uc004ewb.3_Silent_p.P12P|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	43					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GACACAACCCCGACCGCAGGA	0.552000														74			12		0	0	0.001855	0	0
HM13	81502	broad.mit.edu	37	20	30126064	30126064	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:30126064G>A	uc002wwc.3	+	3	479	c.365_splice	c.e3+1	p.S122_splice	HM13_uc002wwd.3_Splice_Site_p.S122_splice|HM13_uc002wwe.3_Splice_Site_p.S122_splice|HM13_uc002wwb.1_Missense_Mutation_p.R122K	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	122					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CACACCATCAGGTCAGAAGGC	0.488000														49			10		0	0	0.008291	0	0
DSG4	147409	broad.mit.edu	37	18	28972242	28972242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:28972242G>A	uc002kwr.2	+	7	1079	c.944G>A	c.(943-945)gGg>gAg	p.G315E	DSG4_uc002kwq.2_Missense_Mutation_p.G315E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	315	Cadherin 3.		Missing (in LAH1).		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)			GGAAATGATGGGAATTGGTTC	0.348000														23			8		0	0	0.004482	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964615	32964615	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:32964615C>T	uc002hif.3	+	9	2647	c.2319C>T	c.(2317-2319)gtC>gtT	p.V773V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	773						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAGCCCCGTCGTGCCACCCA	0.751000														15			4		0	0	0.009096	0	0
IFITM3	10410	broad.mit.edu	37	11	319853	319853	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:319853G>A	uc001lpa.2	-	1	488	c.387C>T	c.(385-387)ttC>ttT	p.F129F	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	129					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.F129V(1)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGGCCTGGAAGATCAGCA	0.587000														42			6		0	0	0.004482	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454586	234454586	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:234454586C>T	uc001hvy.1	+	5	1189	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	SLC35F3_uc001hwa.1_Silent_p.I279I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	279					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCCTCTTCATCACCTGCATTC	0.418000														136			12		0	0	0.010729	0	0
SCAND3	114821	broad.mit.edu	37	6	28543585	28543585	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:28543585C>T	uc003nlo.3	-	2	1515	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	299					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTAAGTAATACCGTATTTTAT	0.403000														111			9		0	0	0.006214	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986373	51986373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:51986373C>T	uc002pwv.1	+	4	959	c.959C>T	c.(958-960)tCc>tTc	p.S320F		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)		ATCTGCTATTCCTTCCTGGAT	0.522000														91			36		0	0	0.008740	0	0
OR13C3	138803	broad.mit.edu	37	9	107298727	107298727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:107298727G>A	uc004bcb.1	-	0	368	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCCAGAGAAGGAAATGTTTCT	0.443000														58			9		0	0	0.004482	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914781	94914781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:94914781G>A	uc001ydd.1	-	1	391	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	111					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TCGGCTTCAGGGGTTTCTGTG	0.587000														89			15		0	0	0.003163	0	0
CD86	942	broad.mit.edu	37	3	121825277	121825277	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:121825277G>A	uc003eet.3	+	3	761	c.633G>A	c.(631-633)acG>acA	p.T211T	CD86_uc011bjo.2_Silent_p.T129T|CD86_uc011bjp.2_Silent_p.T99T|CD86_uc003eeu.3_Silent_p.T205T|CD86_uc021xcz.1_Silent_p.T205T	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	211	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding	p.T211T(4)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CTGATGTTACGAGCAATATGA	0.393000														106			12		0	0	0.001855	0	0
PTPRB	5787	broad.mit.edu	37	12	70954521	70954521	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:70954521C>T	uc001swb.4	-	14	3738	c.3708G>A	c.(3706-3708)agG>agA	p.R1236R	PTPRB_uc010sto.2_Silent_p.R1146R|PTPRB_uc010stp.2_Silent_p.R1146R|PTPRB_uc001swc.4_Silent_p.R1454R|PTPRB_uc001swa.4_Silent_p.R1366R|PTPRB_uc001swd.4_Silent_p.R1453R|PTPRB_uc009zrr.2_Silent_p.R1333R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1236	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1236M(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCACGTACTTCCTTCCAGGAA	0.502000														29			4		0	0	0.009096	0	0
IL26	55801	broad.mit.edu	37	12	68595632	68595632	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:68595632C>G	uc001stx.1	-	4	544	c.509G>C	c.(508-510)aGt>aCt	p.S170T		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	170					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GGTTTACTGACTGCTTTCCAA	0.294000														40			4		0	0	0.000602	0	0
DROSHA	29102	broad.mit.edu	37	5	31401632	31401632	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:31401632G>A	uc003jhg.2	-	34	4391	c.4032C>T	c.(4030-4032)atC>atT	p.I1344I	DROSHA_uc003jhh.2_Silent_p.I1307I	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1344	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACTTCCGTTCGATGAACCGCT	0.358000														56			9		0	0	0.004482	0	0
KCNB2	9312	broad.mit.edu	37	8	73848625	73848625	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:73848625G>A	uc003xzb.3	+	2	1623	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	345					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGCCATGGGGATAATGATAT	0.473000														92			20		0	0	0.014323	0	0
ABCA9	10350	broad.mit.edu	37	17	67014721	67014721	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:67014721C>T	uc002jhu.3	-	20	2744	c.2601_splice	c.e20-1	p.I867_splice	ABCA9_uc010dez.3_Splice_Site_p.I867_splice	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	867					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAGCAATAATCTATGCAGAGG	0.289000														159			27		0	0	0.003954	0	0
OR4F6	390648	broad.mit.edu	37	15	102346165	102346165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:102346165G>A	uc010utr.2	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCCCAAGATGATTTATGACC	0.478000														149			19		0	0	0.007413	0	0
CASR	846	broad.mit.edu	37	3	122002643	122002643	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:122002643C>T	uc003eew.4	+	6	2310	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	CASR_uc003eev.4_Silent_p.I614I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	614					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	p.I614I(1)		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)	CCTTTGGGATCGCACTCACCC	0.537000														49			8		0	0	0.006214	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419343	46419343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:46419343C>T	uc001ncv.2	-	19	3877	c.3563G>A	c.(3562-3564)aGc>aAc	p.S1188N	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.S1156N|AMBRA1_uc001ncu.1_Missense_Mutation_p.S1095N|AMBRA1_uc010rgu.1_Missense_Mutation_p.S1185N|AMBRA1_uc001ncw.2_Missense_Mutation_p.S1066N|AMBRA1_uc001ncx.2_Missense_Mutation_p.S1125N	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1185					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AATGCGGTGGCTGACGATGAT	0.672000														28			4		0	0	0.001168	0	0
LMX1A	4009	broad.mit.edu	37	1	165218696	165218696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:165218696C>T	uc001gcz.2	-	3	639	c.445G>A	c.(445-447)Gag>Aag	p.E149K	LMX1A_uc021pdz.1_Missense_Mutation_p.E149K	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	149	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGCTCCTTCTCATAGTCCCCT	0.622000														34			13		0	0	0.002450	0	0
GJB3	2707	broad.mit.edu	37	1	35250940	35250940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:35250940G>A	uc001bxz.4	+	0	577	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	GJB3_uc001bxx.3_Missense_Mutation_p.G193S|GJB3_uc001bxy.3_Missense_Mutation_p.G193S	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	193					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTTCATGGTGGGCGCCTCCGC	0.612000														47			6		0	0	0.001168	0	0
PCSK9	255738	broad.mit.edu	37	1	55521729	55521730	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55521729_55521730CC>TT	uc001cyf.2	+	5	1225_1226	c.863_864CC>TT	c.(862-864)ccc>cTT	p.P288L	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	288	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCTGCTGCCCCTGGCGGGTG	0.673000														172			14		0	0	0.004672	0	0
LOC285074	285074	broad.mit.edu	37	2	87276797	87276797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:87276797G>A	uc002ssg.1	-	0	893	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F	RMND5A_uc002srs.4_Intron|LOC285074_uc010fgw.3_Missense_Mutation_p.L26F|LOC285074_uc002ssf.4_Missense_Mutation_p.L26F					Homo sapiens anaphase promoting complex subunit 1 pseudogene (LOC285074), non-coding RNA.																		GCACTCTGAAGAAGCCTTCGC	0.468000														39			13		0	0	0.003163	0	0
RERG	85004	broad.mit.edu	37	12	15262375	15262375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:15262375C>T	uc001rcs.3	-	3	409	c.269G>A	c.(268-270)gGa>gAa	p.G90E	RERG_uc001rct.3_Missense_Mutation_p.G90E|RERG_uc010shu.2_Missense_Mutation_p.G71E	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	90					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding	p.R89L(1)|p.R89R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTCAAAACTTCCTCGGTCAGT	0.478000														256			73		0	0	0.014410	0	0
POM121	9883	broad.mit.edu	37	7	72400635	72400635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:72400635C>T	uc003twk.2	+	4	1261	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	POM121_uc003twj.3_Nonsense_Mutation_p.R156*|POM121_uc010lam.1_Nonsense_Mutation_p.R156*	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	421	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CAGCTCCACTCGAGGCATCTC	0.522000														156			38		0	0	0.007835	0	0
ANGPT4	51378	broad.mit.edu	37	20	896686	896687	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:896686_896687CC>TT	uc002wei.3	-	0	274_275	c.171_172GG>AA	c.(169-174)ccgggg>ccAAgg	p.G58R	ANGPT4_uc010zpn.2_Missense_Mutation_p.G52R	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	58					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTCAGGCCCCGGAGGGCAGG	0.614000														66			15		0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164755722	164755723	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:164755722_164755723GG>AA	uc003fei.3	-	20	2454_2455	c.2391_2392CC>TT	c.(2389-2394)atcccc>atTTcc	p.P798S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	798	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)	TCTTGAATGGGGATGATATAAC	0.327000										HNSCC(35;0.089)				23			4		0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775788	77775788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:77775788G>A	uc003yau.2	+	10	10225	c.9838G>A	c.(9838-9840)Gga>Aga	p.G3280R		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGCTCCCTGGAACAGTGCA	0.527000										HNSCC(33;0.089)				58			29		0	0	0.009535	0	0
WDR16	146845	broad.mit.edu	37	17	9497522	9497522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:9497522G>A	uc010coc.3	+	4	679	c.450G>A	c.(448-450)tgG>tgA	p.W150*	WDR16_uc002gly.3_Nonsense_Mutation_p.W140*|WDR16_uc002glz.3_Nonsense_Mutation_p.W72*			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	140						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGTGGTGTGGAGCATAGCCA	0.458000														65			10		0	0	0.008291	0	0
SAMD9	54809	broad.mit.edu	37	7	92730707	92730707	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:92730707C>T	uc003umf.3	-	2	4974	c.4704G>A	c.(4702-4704)gaG>gaA	p.E1568E	SAMD9_uc003umg.3_Silent_p.E1568E|SAMD9_uc022ahg.1_Silent_p.E1568E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1568						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACACCTTCTCTATGCTTC	0.358000														108			8		0	0	0.003080	0	0
PCSK6	5046	broad.mit.edu	37	15	101972284	101972284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:101972284C>T	uc002bxa.2	-	3	735	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCSK6_uc010bpd.3_Missense_Mutation_p.E12K|PCSK6_uc002bwy.3_Missense_Mutation_p.E141K|PCSK6_uc010bpe.3_Missense_Mutation_p.E138K|PCSK6_uc002bxb.2_Missense_Mutation_p.E141K|PCSK6_uc002bxc.1_Missense_Mutation_p.E141K|PCSK6_uc002bxd.1_Missense_Mutation_p.E141K|PCSK6_uc002bxe.3_Missense_Mutation_p.E141K|PCSK6_uc002bxg.1_Missense_Mutation_p.E141K	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	142					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)			CGTTTCACTTCCTGTTGCTGG	0.458000														20			4		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179658217	179658217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:179658217C>T	uc021vsy.1	-	8	1675	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	TTN_uc021vsz.1_Missense_Mutation_p.D484N|TTN_uc021vta.1_Missense_Mutation_p.D484N|TTN_uc021vtb.1_Missense_Mutation_p.D484N|TTN_uc002unb.2_Missense_Mutation_p.D484N|TTN_uc010frg.1_Missense_Mutation_p.D158N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	484							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)			TTGGCTTTATCGGCGGCCACT	0.398000														40			18		0	0	0.007413	0	0
TNIP3	79931	broad.mit.edu	37	4	122068287	122068287	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:122068287G>A	uc021xrj.1	-	9	962	c.883C>T	c.(883-885)Cga>Tga	p.R295*	TNIP3_uc010ing.3_Nonsense_Mutation_p.R218*|TNIP3_uc011cgj.2_Nonsense_Mutation_p.R288*	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGTCTCTCTCGATCCGATCGT	0.373000														70			25		0	0	0.003330	0	0
TG	7038	broad.mit.edu	37	8	134145864	134145864	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:134145864C>T	uc003ytw.3	+	46	8189	c.8148C>T	c.(8146-8148)tcC>tcT	p.S2716S	TG_uc010mdw.3_Silent_p.S1475S|TG_uc011ljb.2_Silent_p.S1085S|TG_uc011ljc.2_Silent_p.S849S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2716					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGACTGCTCCTTCTGGTCCA	0.562000														14			4		0	0	0.000602	0	0
PCSK5	5125	broad.mit.edu	37	9	78710846	78710846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:78710846G>A	uc004akc.2	+	7	1473	c.935G>A	c.(934-936)gGa>gAa	p.G312E	PCSK5_uc004ajy.2_Missense_Mutation_p.G312E|PCSK5_uc004ajz.3_Missense_Mutation_p.G312E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	312	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGGCATCTGGAAATGGTGGA	0.493000														96			7		0	0	0.003080	0	0
SV2B	9899	broad.mit.edu	37	15	91769537	91769537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:91769537C>T	uc002bqv.3	+	2	935	c.44C>T	c.(43-45)cCc>cTc	p.P15L	SV2B_uc002bqt.3_Missense_Mutation_p.P15L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	15					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGCTATGCTCCCAGTGATGGC	0.517000														265			36		0	0	0.005524	0	0
HTN1	3346	broad.mit.edu	37	4	70920059	70920059	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:70920059G>A	uc003hex.3	+	3	139	c.72_splice	c.e3+1	p.K24_splice		NM_002159	NP_002150	P15515	HIS1_HUMAN	Homo sapiens histatin 1 (HTN1), mRNA.	24					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						CACATGAAAAGGTAAGACATT	0.239000														11			6		0	0	0.003080	0	0
TRANK1	9881	broad.mit.edu	37	3	36872577	36872578	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:36872577_36872578CC>TT	uc003cgj.3	-	20	8612_8613	c.8364_8365GG>AA	c.(8362-8367)gtggcc>gtAAcc	p.A2789T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2789					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGGTAGGCCACTTGCTGCC	0.525000														103			14		0	0	0.004672	0	0
OR2T10	127069	broad.mit.edu	37	1	248756259	248756259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248756259C>T	uc010pzn.2	-	0	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D271Y(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			GACATCATATCTTTCTCAGGA	0.423000														34			11		0	0	0.010729	0	0
ADAD1	132612	broad.mit.edu	37	4	123333892	123333892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:123333892G>A	uc003ieo.3	+	9	1409	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ADAD1_uc003iep.3_Missense_Mutation_p.E382K|ADAD1_uc003ieq.3_Missense_Mutation_p.E375K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	393	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCAGATGGGAAGTGCTTGG	0.423000														109			11		0	0	0.013537	0	0
SNORA71B	26776	broad.mit.edu	37	20	37053978	37053978	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:37053978G>A	uc002xik.2	-	1		c.1_splice	c.e1-1		LOC388796_uc002xie.3_Intron|LOC388796_uc002xii.3_Intron|LOC388796_uc002xig.3_Intron|LOC388796_uc002xij.3_Intron|LOC388796_uc002xif.3_Intron					Homo sapiens small nucleolar RNA, H/ACA box 71B (SNORA71B), small nucleolar RNA.																		TCGAATACAGGGACAAAATAG	0.512000														50			9		0	0	0.010729	0	0
TRPM6	140803	broad.mit.edu	37	9	77427271	77427271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:77427271C>T	uc004ajl.1	-	11	1625	c.1387G>A	c.(1387-1389)Gga>Aga	p.G463R	TRPM6_uc004ajk.1_Missense_Mutation_p.G458R|TRPM6_uc022bib.1_Missense_Mutation_p.G458R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G463R|TRPM6_uc010mpd.1_Missense_Mutation_p.G463R|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	463					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGTTCACTCCATATTCTATT	0.423000														51			6		0	0	0.001168	0	0
AGAP7	653268	broad.mit.edu	37	10	51464844	51464844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:51464844C>T	uc001jio.3	-	6	1738	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	538	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCTTCTCTTCCCTCGTGGAC	0.567000														206			14		0	0	0.004990	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870774	51870774	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:51870774G>A	uc002xwo.3	+	1	1664	c.777G>A	c.(775-777)agG>agA	p.R259R	TSHZ2_uc021wex.1_Silent_p.R256R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	259					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGCCCAGGAAAAGGGCTT	0.478000														28			5		0	0	0.000602	0	0
FKBP5	2289	broad.mit.edu	37	6	35543668	35543668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35543668C>T	uc011dte.1	-	10	1521	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	FKBP5_uc003okx.2_Missense_Mutation_p.E440K|FKBP5_uc011dtf.1_Missense_Mutation_p.E261K|FKBP5_uc003oky.2_Missense_Mutation_p.E440K	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	440					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTTCCTTTTTCATTAGTGACC	0.468000														196			39		0	0	0.011902	0	0
OR2L8	391190	broad.mit.edu	37	1	248112291	248112291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:248112291G>A	uc001idt.1	+	0	132	c.132G>A	c.(130-132)atG>atA	p.M44I	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	44					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)			ACCTGTCCATGATTCTTCTCA	0.413000														188			50		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:140255890C>T	uc003lic.2	+	0	960	c.833C>T	c.(832-834)tCc>tTc	p.S278F	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_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S278F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	293	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S278F(2)		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)			GGAGAAATTTCCTATGGGATC	0.368000														88			6		0	0	0.003080	0	0
ATG4A	115201	broad.mit.edu	37	X	107381365	107381365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chrX:107381365C>T	uc004enr.3	+	8	916	c.758C>T	c.(757-759)tCt>tTt	p.S253F	ATG4A_uc004ens.3_Missense_Mutation_p.S169F|ATG4A_uc011msl.2_Intron|ATG4A_uc010npi.3_Intron|ATG4A_uc004ent.3_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	253					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATGCCACAGTCTTTAGGGGCA	0.453000														60			17		0	0	0.010504	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594815	64594815	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:64594815G>A	uc001obs.4	-	32	4206	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1402					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						TCTTGGTGCGGAACAGCTGGC	0.652000														70			5		0	0	0.001168	0	0
PLK3	1263	broad.mit.edu	37	1	45267365	45267365	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:45267365C>T	uc001cmn.3	+	3	607	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	169	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCGGCAGATCCTTTCTGGCC	0.632000														63			6		0	0	0.001168	0	0
OR1L3	26735	broad.mit.edu	37	9	125437994	125437994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:125437994G>A	uc011lzb.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTTGTCAATGAAATTGTGGC	0.433000														109			17		0	0	0.004990	0	0
DACT1	51339	broad.mit.edu	37	14	59113692	59113693	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:59113692_59113693GG>AA	uc001xdw.3	+	3	2515_2516	c.2351_2352GG>AA	c.(2350-2352)tgg>tAA	p.W784*	DACT1_uc010trv.2_Nonsense_Mutation_p.W503*|DACT1_uc001xdx.3_Nonsense_Mutation_p.W747*|DACT1_uc010trw.2_Nonsense_Mutation_p.W503*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	784					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCTTAATTTGGTCCCAGTTTG	0.550000														65			5		0	0	0.004672	0	0
PSMB11	122706	broad.mit.edu	37	14	23511855	23511855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23511855G>A	uc010ake.1	+	0	480	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	141					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	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TCAATACCGGGGACTGGATCT	0.627000														59			7		0	0	0.006214	0	0
NRSN1	140767	broad.mit.edu	37	6	24146025	24146025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:24146025G>A	uc010jpq.1	+	3	676	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	147					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CTCCAAAGAAGAAAAATTCCT	0.502000														59			8		0	0	0.006214	0	0
CCDC69	26112	broad.mit.edu	37	5	150578573	150578573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:150578573C>T	uc003ltq.3	-	3	427	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	102										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGCCTCTTCATTCTTTCCT	0.597000														59			9		0	0	0.006214	0	0
FBXL21	26223	broad.mit.edu	37	5	135277292	135277292	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:135277292G>A	uc021ydv.1	+	7		c.1719G>A			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGCCTAGATGAAATTCACAC	0.433000														24			4		0	0	0.000602	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143439	61143439	+	RNA	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:61143439A>C	uc021wfy.1	-	0		c.444T>G			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		TGCTCCTGGGACCCTCACCTT	0.672000														52			5		0	0	0.001984	0	0
NDST4	64579	broad.mit.edu	37	4	115760697	115760697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:115760697C>T	uc003ibu.3	-	10	2802	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	708	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCATGTGATCGTTGGTGCTT	0.378000														40			5		0	0	0.001984	0	0
NOC2L	26155	broad.mit.edu	37	1	881015	881016	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:881015_881016GG>AA	uc009vjq.3	-	16	1994_1995	c.1935_1936CC>TT	c.(1933-1938)ttccct>ttTTct	p.P646S	NOC2L_uc001aby.4_Missense_Mutation_p.P443S|NOC2L_uc001abz.4_Missense_Mutation_p.P646S	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	646	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTGATCTCAGGGAAGTTCAGGT	0.569000														74			5		0	0	0.004672	0	0
SCRIB	23513	broad.mit.edu	37	8	144894450	144894450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:144894450C>T	uc003yzp.1	-	8	899	c.892G>A	c.(892-894)Gag>Aag	p.E298K	SCRIB_uc003yzo.1_Missense_Mutation_p.E298K	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	298	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCAGGTTCTCCGTGAGGATC	0.597000														55			18		0	0	0.007413	0	0
RPL26	6154	broad.mit.edu	37	17	8283225	8283225	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:8283225T>A	uc002glh.1	-	2	294	c.198A>T	c.(196-198)caA>caT	p.Q66H		NM_000987	NP_000978	P61254	RL26_HUMAN	Homo sapiens ribosomal protein L26 (RPL26), mRNA.	66					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			skin(1)|urinary_tract(1)	2						CTTTGCCAATTTGCTGACCTT	0.373000														33			10		0	0	0.013537	0	0
XIRP2	129446	broad.mit.edu	37	2	168107274	168107274	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:168107274C>T	uc002udx.3	+	8	9461	c.9372C>T	c.(9370-9372)atC>atT	p.I3124I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I2949I|XIRP2_uc010fpq.3_Silent_p.I2902I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2949					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAACTTTTATCACAATAGAAT	0.443000														42			7		0	0	0.004482	0	0
OR2A2	442361	broad.mit.edu	37	7	143807483	143807483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:143807483G>A	uc011ktz.2	+	0	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGGAGCAGGAGAAAATGCT	0.517000														135			27		0	0	0.005443	0	0
NETO2	81831	broad.mit.edu	37	16	47143563	47143563	+	Silent	SNP	G	A	A	rs139454743		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:47143563G>A	uc002eer.2	-	6	1127	c.714C>T	c.(712-714)ttC>ttT	p.F238F	NETO2_uc002eeq.2_Silent_p.F11F|NETO2_uc010vgf.2_Silent_p.F231F	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	238	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AGACTGCAACGAAGTTTCTCT	0.353000										HNSCC(25;0.065)				53			6		0	0	0.006214	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093488	6093488	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:6093488C>T	uc002kmz.4	-	14	1399	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	L3MBTL4_uc002kmy.4_Silent_p.K413K|L3MBTL4_uc010dkt.3_Silent_p.K413K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	413					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTGTTGCCTCCTTTTTCAAGT	0.388000														74			6		0	0	0.001168	0	0
CACNA1C	775	broad.mit.edu	37	12	2714934	2714934	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:2714934C>T	uc009zdu.1	+	24	3511	c.3198C>T	c.(3196-3198)atC>atT	p.I1066I	CACNA1C_uc001qkc.2_Silent_p.I1046I|CACNA1C_uc001qjz.2_Silent_p.I1046I|CACNA1C_uc001qkd.2_Silent_p.I1046I|CACNA1C_uc001qke.2_Silent_p.I1046I|CACNA1C_uc001qkf.2_Silent_p.I1046I|CACNA1C_uc009zdw.1_Silent_p.I1046I|CACNA1C_uc001qkg.2_Silent_p.I1046I|CACNA1C_uc001qkh.2_Silent_p.I1046I|CACNA1C_uc001qkl.2_Silent_p.I1066I|CACNA1C_uc001qkj.2_Silent_p.I1046I|CACNA1C_uc001qkk.2_Silent_p.I1046I|CACNA1C_uc001qkn.2_Silent_p.I1046I|CACNA1C_uc001qkm.2_Silent_p.I1046I|CACNA1C_uc001qko.2_Silent_p.I1066I|CACNA1C_uc001qkp.2_Silent_p.I1046I|CACNA1C_uc001qkq.2_Silent_p.I1046I|CACNA1C_uc001qku.2_Silent_p.I1046I|CACNA1C_uc001qkr.2_Silent_p.I1046I|CACNA1C_uc001qks.2_Silent_p.I1046I|CACNA1C_uc001qkt.2_Silent_p.I1046I|CACNA1C_uc009zdv.1_Silent_p.I1043I|CACNA1C_uc001qkb.2_Silent_p.I1046I|CACNA1C_uc001qka.1_Silent_p.I581I|CACNA1C_uc001qki.1_Silent_p.I782I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1066					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGCCTGCATCGGGGTCCAGC	0.552000														39			5		0	0	0.001168	0	0
RBBP6	5930	broad.mit.edu	37	16	24582700	24582700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr16:24582700G>A	uc002dmh.3	+	17	5353	c.4313G>A	c.(4312-4314)gGa>gAa	p.G1438E	RBBP6_uc002dmi.3_Missense_Mutation_p.G1404E|RBBP6_uc010bxr.3_Missense_Mutation_p.G598E|RBBP6_uc002dmk.3_Missense_Mutation_p.G1271E	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1438	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AATGAACAAGGAAATTTTAAA	0.403000														40			10		0	0	0.006214	0	0
MIA3	375056	broad.mit.edu	37	1	222838884	222838884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:222838884G>A	uc001hnl.3	+	27	5656	c.5647G>A	c.(5647-5649)Ggc>Agc	p.G1883S	MIA3_uc001hnm.3_Missense_Mutation_p.G761S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1883	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.G1883G(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACTGCCGTCAGGCTCTAGAGA	0.517000														302			25		0	0	0.006320	0	0
ZNF428	126299	broad.mit.edu	37	19	44112185	44112185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:44112185C>T	uc002oxa.3	-	2	586	c.151G>A	c.(151-153)Gag>Aag	p.E51K	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	51	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				tcctcttcctcctcctcctca	0.617000														20			4		0	0	0.009096	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409618	80409618	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:80409618G>A	uc003kha.2	+	14	2399	c.2349G>A	c.(2347-2349)caG>caA	p.Q783Q	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	783					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACACTGGTCAGATACCACTGG	0.552000														22			4		0	0	0.009096	0	0
ARAP1	116985	broad.mit.edu	37	11	72423547	72423547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:72423547C>T	uc001osu.3	-	5	1003	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ARAP1_uc001osv.3_Missense_Mutation_p.E272K|ARAP1_uc001osr.3_Missense_Mutation_p.E32K|ARAP1_uc001oss.3_Missense_Mutation_p.E27K|ARAP1_uc009yth.3_Missense_Mutation_p.E27K|ARAP1_uc010rre.2_Missense_Mutation_p.E27K	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	272					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCAGACAGTTCCTCTCCCTCG	0.672000														210			23		0	0	0.002780	0	0
abParts	0	broad.mit.edu	37	14	106866491	106866491	+	RNA	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106866491G>A	uc021ser.1	-	432		c.13729C>T								Parts of antibodies, mostly variable regions.																		ATTGTCTCTGGAGATGGTGAA	0.527000														95			7		0	0	0.003080	0	0
ZBED2	79413	broad.mit.edu	37	3	111312974	111312974	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:111312974C>T	uc003dxy.3	-	1	976	c.75G>A	c.(73-75)gaG>gaA	p.E25E	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Silent_p.E25E	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	25							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TAATCTCTTCCTCCTCCTTCA	0.517000														44			6		0	0	0.001168	0	0
ZNF10	7556	broad.mit.edu	37	12	133732822	133732822	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr12:133732822C>T	uc009zzb.3	+	4	1437	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.F330F	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GAAAATCCTTCAGCTGGTTCT	0.423000														45			16		0	0	0.004990	0	0
EFS	10278	broad.mit.edu	37	14	23829435	23829435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:23829435C>T	uc001wjo.3	-	2	961	c.353G>A	c.(352-354)gGa>gAa	p.G118E	EFS_uc001wjp.3_Missense_Mutation_p.G25E|EFS_uc010tnm.2_Missense_Mutation_p.G25E	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	118	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TGGGCAAGGTCCAGCTGGAGG	0.622000														67			8		0	0	0.004482	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928098	13928098	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:13928098A>T	uc002mxh.1	+	6	1438	c.1249A>T	c.(1249-1251)Att>Ttt	p.I417F	ZSWIM4_uc010xng.1_Missense_Mutation_p.I340F	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	417							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCTGGACCCCATTGGCTGCCT	0.622000														52			7		0	0	0.001984	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182517	100182517	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:100182517C>T	uc001ygo.3	+	8	888	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CYP46A1_uc001ygp.3_Silent_p.F143F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	296					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGACAACTTCGTCACCTTCT	0.542000														54			5		0	0	0.000602	0	0
MST1R	4486	broad.mit.edu	37	3	49939880	49939880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:49939880G>A	uc003cxy.4	-	0	1427	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	MST1R_uc011bdc.2_Missense_Mutation_p.S388F|MST1R_uc011bdd.2_Missense_Mutation_p.S388F|MST1R_uc011bde.1_Missense_Mutation_p.S388F|MST1R_uc011bdf.1_Missense_Mutation_p.S388F|MST1R_uc011bdg.2_Missense_Mutation_p.S388F	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	388	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATGGACTGGGGATTCACAACA	0.592000														78			14		0	0	0.001855	0	0
KRT37	8688	broad.mit.edu	37	17	39580692	39580692	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:39580692G>A	uc002hwp.1	-	0	131	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	28	Head.					intermediate filament	structural molecule activity			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)				ACCCAACATCGATAGGAGAGA	0.592000														50			7		0	0	0.001984	0	0
FAM151A	338094	broad.mit.edu	37	1	55088965	55088965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:55088965G>A	uc001cxn.3	-	0	236	c.104C>T	c.(103-105)aCc>aTc	p.T35I	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	35						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCGCCGCAGGGTGATGGCAAG	0.562000														50			8		0	0	0.003080	0	0
CLCA4	22802	broad.mit.edu	37	1	87045120	87045120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:87045120G>A	uc009wcs.3	+	12	2250	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	CLCA4_uc009wct.3_Missense_Mutation_p.G499R|CLCA4_uc009wcu.3_Missense_Mutation_p.G556R	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	736						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AACAGCATCCGGAGGTGCATT	0.478000														56			14		0	0	0.003163	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418878	10418878	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10418878C>T	uc002mnw.4	-	0	1356	c.480G>A	c.(478-480)caG>caA	p.Q160Q	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	160					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TGGGGATGATCTGCAGGCTGG	0.632000														68			12		0	0	0.002450	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650827	121650827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr7:121650827G>A	uc003vjy.3	+	11	2122	c.1727G>A	c.(1726-1728)aGt>aAt	p.S576N	PTPRZ1_uc011knt.2_Missense_Mutation_p.S576N|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S576N	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	576					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTATTGACCAGTTTCAAGCTT	0.403000														43			6		0	0	0.001168	0	0
MEI1	150365	broad.mit.edu	37	22	42120046	42120046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr22:42120046G>A	uc003baz.1	+	6	858	c.833G>A	c.(832-834)gGa>gAa	p.G278E	bK250D10.C22.8_uc003bba.1_5'Flank|MEI1_uc003bay.3_Missense_Mutation_p.G278E|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	278							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGTCATCAGGAAATACCTCA	0.463000														26			6		0	0	0.001168	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032776	46032776	+	Silent	SNP	G	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr21:46032776G>C	uc002zfo.1	+	0	781	c.759G>C	c.(757-759)gcG>gcC	p.A253A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	253						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						gccgccccgcgtgctcccgcc	0.711000														15			4		0	0	0.009096	0	0
HEATR6	63897	broad.mit.edu	37	17	58144948	58144948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr17:58144948G>A	uc002iyk.1	-	7	1102	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.S194F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	362				SS -> FF (in Ref. 1; BAB15229).			binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACCCAGGGAGGAGGGACACCA	0.527000														21			8		0	0	0.003080	0	0
RGL2	5863	broad.mit.edu	37	6	33263311	33263311	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:33263311G>A	uc003odv.3	-	6	1554	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Silent_p.L250L|RGL2_uc011drb.2_Silent_p.L250L	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	332	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CACTTCTCCAGGAGCCGGGCC	0.602000														25			6		0	0	0.001168	0	0
ZNF827	152485	broad.mit.edu	37	4	146806916	146806916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:146806916G>A	uc003ikn.3	-	3	1709	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	ZNF827_uc003ikm.3_Missense_Mutation_p.S554F|ZNF827_uc010iox.3_Missense_Mutation_p.S204F	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CACATACTCGGAGGGGTCTTT	0.522000														59			6		0	0	0.003080	0	0
NID1	4811	broad.mit.edu	37	1	236143940	236143940	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:236143940T>A	uc001hxo.3	-	16	3343	c.3241A>T	c.(3241-3243)Aca>Tca	p.T1081S	NID1_uc009xgd.3_Missense_Mutation_p.T948S|NID1_uc009xgc.3_Missense_Mutation_p.T162S	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1081					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTCCAGTCTGTCCAGTAAAGG	0.443000														36			6		0	0	0.001168	0	0
AGBL1	123624	broad.mit.edu	37	15	86822964	86822964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr15:86822964G>A	uc002blz.1	+	14	2112	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	AGBL1_uc002bma.1_Missense_Mutation_p.D409N|AGBL1_uc002bmb.1_Missense_Mutation_p.D372N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	678					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACACAGTGAGGATGTCTGCTA	0.507000														180			16		0	0	0.006122	0	0
AHRR	57491	broad.mit.edu	37	5	427983	427983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:427983G>A	uc003jav.3	+	8	879	c.836G>A	c.(835-837)gGa>gAa	p.G279E	AHRR_uc003jaw.3_Missense_Mutation_p.G261E|AHRR_uc010isy.3_Missense_Mutation_p.G107E|AHRR_uc010isz.3_Missense_Mutation_p.G257E|AHRR_uc003jax.3_Missense_Mutation_p.G20E|AHRR_uc003jay.3_Missense_Mutation_p.G117E	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCGCCGTCAGGAGCCATGCTC	0.557000														24			4		0	0	0.009096	0	0
FERMT1	55612	broad.mit.edu	37	20	6093246	6093246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr20:6093246G>A	uc002wmr.3	-	3	1199	c.410C>T	c.(409-411)tCc>tTc	p.S137F	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.S137F	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	137	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAACAAGGAAAGCTCTTC	0.299000														46			9		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106829751	106829751	+	RNA	SNP	A	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:106829751A>C	uc021ser.1	-	518		c.15152T>G			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AATCCACTCCAGCCCCTTCCC	0.552000														68			6		0	0	0.001984	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748012	64748012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:64748012C>T	uc003jtp.3	-	5	1689	c.875G>A	c.(874-876)gGa>gAa	p.G292E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	292	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		CACAACGTTTCCTAGGCTGGA	0.353000														35			6		0	0	0.006214	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250804	24250804	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:24250804G>A	uc003xdz.2	+	2	457	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	79					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)		TTCAATATCAGATGATCTTAA	0.303000														43			9		0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508709	37508709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:37508709C>T	uc021ppc.1	+	33	4000	c.3901C>T	c.(3901-3903)Ctt>Ttt	p.L1301F	ANKRD30A_uc001iza.1_Missense_Mutation_p.L1301F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1357						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						TATTCATTTTCTTGAGAGGAA	0.284000														11			4		0	0	0.009096	0	0
AAMP	14	broad.mit.edu	37	2	219134173	219134173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219134173G>A	uc002vhl.3	-	1	293	c.209C>T	c.(208-210)cCc>cTc	p.P70L	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Missense_Mutation_p.P69L|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	69					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTTCCTGGGGTTCTAGAAC	0.572000														47			6		0	0	0.001168	0	0
CLMN	79789	broad.mit.edu	37	14	95669759	95669759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr14:95669759G>A	uc001yef.2	-	8	2043	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	643						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGGGCTGAAGGACAGCCTTCA	0.473000														70			11		0	0	0.010729	0	0
DNMT1	1786	broad.mit.edu	37	19	10270547	10270547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:10270547G>A	uc002mng.3	-	14	1273	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	DNMT1_uc010xlc.2_Missense_Mutation_p.L381F|DNMT1_uc002mnh.3_Missense_Mutation_p.L260F|DNMT1_uc010xld.2_Missense_Mutation_p.L365F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	365	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCATATTTGAGGTCAGGGTCG	0.607000														92			13		0	0	0.002450	0	0
VIL1	7429	broad.mit.edu	37	2	219292991	219292991	+	Silent	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:219292991C>T	uc002vib.3	+	4	520	c.498C>T	c.(496-498)ttC>ttT	p.F166F	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F166F|VIL1_uc002vic.1_Silent_p.F166F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	166	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.F166F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGATGTTTTCCTCCTGGACC	0.547000														48			7		0	0	0.001984	0	0
LAMA3	3909	broad.mit.edu	37	18	21469984	21469985	+	Missense_Mutation	DNP	GG	AA	AA	rs141738236		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:21469984_21469985GG>AA	uc002kuq.3	+	41	5399_5400	c.5313_5314GG>AA	c.(5311-5316)ccggga>ccAAga	p.G1772R	LAMA3_uc002kur.3_Missense_Mutation_p.G1772R|LAMA3_uc002kus.4_Missense_Mutation_p.G163R|LAMA3_uc002kut.4_Missense_Mutation_p.G163R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1772	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTGCACCGGGATATTTCGG	0.470000														89			6		0	0	0.004672	0	0
FKBP5	2289	broad.mit.edu	37	6	35543679	35543679	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:35543679C>G	uc011dte.1	-	10	1510	c.1307G>C	c.(1306-1308)gGg>gCg	p.G436A	FKBP5_uc003okx.2_Missense_Mutation_p.G436A|FKBP5_uc011dtf.1_Missense_Mutation_p.G257A|FKBP5_uc003oky.2_Missense_Mutation_p.G436A	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	436					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATTAGTGACCCCTTCTGAAGT	0.448000														195			39		0	0	0.009718	0	0
NPM2	10361	broad.mit.edu	37	8	21891733	21891733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr8:21891733C>T	uc003xac.3	+	6	1108	c.478C>T	c.(478-480)Cct>Tct	p.P160S	NPM2_uc003xad.3_Missense_Mutation_p.P160S|NPM2_uc003xae.3_Missense_Mutation_p.P160S|NPM2_uc003xaf.3_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	160					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GGAGCAAAGCCCTGTCAAACA	0.552000														40			8		0	0	0.003080	0	0
NSUN7	79730	broad.mit.edu	37	4	40763290	40763290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr4:40763290G>A	uc003gvj.4	+	3	955	c.460G>A	c.(460-462)Gtt>Att	p.V154I	NSUN7_uc003gvh.2_Missense_Mutation_p.V154I|NSUN7_uc003gvi.4_Missense_Mutation_p.V154I	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CATATCAGAAGTTCAAGAAGT	0.308000														104			13		0	0	0.002450	0	0
LRRC32	2615	broad.mit.edu	37	11	76370947	76370947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:76370947G>A	uc001oxq.4	-	2	1933	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	LRRC32_uc001oxr.4_Missense_Mutation_p.R564W|LRRC32_uc010rsf.2_Missense_Mutation_p.R550W	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	564						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TAGAGGCGCCGGAGGCTGGTC	0.667000														21			5		0	0	0.000602	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541047	178541047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:178541047C>T	uc003mjw.3	-	21	3559	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1153					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGTGATCCTCTGTGGCATTG	0.587000														92			10		0	0	0.006214	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688165	68688165	+	Silent	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr10:68688165G>A	uc001jmz.1	+	1	2041	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.G497G	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	497						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTGAATGGGACGGGACCCT	0.463000														43			6		0	0	0.004482	0	0
TMEM108	66000	broad.mit.edu	37	3	133098932	133098932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:133098932C>T	uc003epi.3	+	3	647	c.377C>T	c.(376-378)tCc>tTc	p.S126F	TMEM108_uc003eph.3_Missense_Mutation_p.S126F|TMEM108_uc003epj.1_Missense_Mutation_p.S126F|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	126	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCAACCACATCCTCCAAGCCA	0.692000														29			5		0	0	0.001984	0	0
EPHB1	2047	broad.mit.edu	37	3	134670780	134670780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr3:134670780G>A	uc003eqt.3	+	2	1066	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACGCAGAGGAAGTGGACGT	0.542000														122			12		0	0	0.013537	0	0
PRPF31	26121	broad.mit.edu	37	19	54627880	54627880	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:54627880G>T	uc002qdh.2	+	7	1096	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	PRPF31_uc010yek.1_Missense_Mutation_p.V234L|PRPF31_uc021vbi.1_Missense_Mutation_p.V234L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	234	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCGCAGGTGTGGCCGGCGG	0.657000														41			8		3.86212e-05	4.00173e-05	0.008291	1	0
VPS13D	55187	broad.mit.edu	37	1	12405522	12405522	+	Frame_Shift_Del	DEL	T	-	-	rs34106288		TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:12405522delT	uc001atv.3	+	42	9118	c.8977delT	c.(8977-8979)tttfs	p.F2993fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.F2968fs|VPS13D_uc001atx.3_Frame_Shift_Del_p.F2180fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2992					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTCGGGACCTTTTTTCGATA	0.483													---	129	---	---	7	---					
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	-	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:206858676_206858678delGCC	uc001hem.2	+	0	312_314	c.102_104delGCC	c.(100-105)cagccg>cag	p.P40del	MAPKAPK2_uc001hel.2_In_Frame_Del_p.P40del	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	40	Poly-Pro.|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729													---	4	---	---	2	---					
DISP1	84976	broad.mit.edu	37	1	223178918	223178919	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr1:223178918_223178919insT	uc001hnu.2	+	9	4505_4506	c.4179_4180insT	c.(4177-4182)tcatttfs	p.S1393fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1393					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCCATCGTCATTTGTCTGCAG	0.455													---	279	---	---	19	---					
MTA3	57504	broad.mit.edu	37	2	42871289	42871289	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr2:42871289delT	uc002rso.1	+	6	906	c.236delT	c.(235-237)gtcfs	p.V79fs	MTA3_uc002rsp.1_Frame_Shift_Del_p.V79fs|MTA3_uc002rsq.3_Frame_Shift_Del_p.V135fs	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	135	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TACTCATTGGTCTATGACCCC	0.353													---	41	---	---	8	---					
CDH10	1008	broad.mit.edu	37	5	24488051	24488051	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr5:24488051delA	uc003jgr.2	-	11	2594	c.2088delT	c.(2086-2088)tttfs	p.F696fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCGAGGAATAAATAACGTTT	0.502										HNSCC(23;0.051)			---	42	---	---	11	---					
SCAF8	22828	broad.mit.edu	37	6	155153552	155153569	+	In_Frame_Del	DEL	CCACCCCAACGGGGAATC	-	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr6:155153552_155153569delCCACCCCAACGGGGAATC	uc003qqa.3	+	20	3071_3088	c.2839_2856delCCACCCCAACGGGGAATC	c.(2839-2856)ccaccccaacggggaatcdel	p.PPQRGI947del	TIAM2_uc003qqb.3_5'Flank|SCAF8_uc011efj.2_In_Frame_Del_p.PPQRGI1013del|SCAF8_uc011efk.2_In_Frame_Del_p.PPQRGI992del|SCAF8_uc003qpz.3_In_Frame_Del_p.PPQRGI947del|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	947	Pro-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	p.I952I(2)|p.R950L(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCCTGGAATTCCACCCCAACGGGGAATCCCACCCCCAT	0.495													---	174	---	---	12	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	GGCGGCGGC	GGCGGCGGC	rs3833707	by1000genomes	TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.3	+	0	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	58	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													---	3	---	---	4	---					
MSANTD4	84437	broad.mit.edu	37	11	105880579	105880579	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr11:105880579delG	uc001piy.3	-	2	894	c.721delC	c.(721-723)cggfs	p.R241fs	MSANTD4_uc001piz.3_Frame_Shift_Del_p.R241fs	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	Homo sapiens KIAA1826 (KIAA1826), mRNA.	241						nucleus											TCTAAATGCCGCAGCCTCTCT	0.463													---	64	---	---	16	---					
NEDD4L	23327	broad.mit.edu	37	18	56058729	56058729	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr18:56058729delT	uc002lgy.3	+	29	3046	c.2763delT	c.(2761-2763)ggtfs	p.G921fs	NEDD4L_uc002lgz.3_Frame_Shift_Del_p.G857fs|NEDD4L_uc002lgx.3_Frame_Shift_Del_p.G901fs|NEDD4L_uc010xee.1_Frame_Shift_Del_p.G800fs|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.G913fs|NEDD4L_uc002lhd.2_Frame_Shift_Del_p.G800fs|NEDD4L_uc002lhb.2_Frame_Shift_Del_p.G780fs|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.G893fs|NEDD4L_uc002lhf.3_Frame_Shift_Del_p.G780fs|NEDD4L_uc002lhg.3_Frame_Shift_Del_p.G800fs|NEDD4L_uc002lhh.2_Frame_Shift_Del_p.G696fs	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	921	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GTTCCAATGGTCCTCAGCTGT	0.453													---	4	---	---	2	---					
ARHGAP35	2909	broad.mit.edu	37	19	47503883	47503884	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2MJ-06A-11D-A197-08	TCGA-EE-A2MJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	964d72a9-8897-4cf2-99a7-c7eddff542d5	649619f3-ace3-427f-b846-02c407a88a22	g.chr19:47503883_47503884insC	uc010ekv.3	+	5	4438_4439	c.4438_4439insC	c.(4438-4440)accfs	p.T1480fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1480	Pro-rich.				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	p.T1480P(2)									GCCTCCACCCACCCCCCAGTCC	0.668													---	4	---	---	2	---					
