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
UGT2B28	54490	broad.mit.edu	37	4	70155457	70155457	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:70155457G>A	uc003hej.3	+	3	1079	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	359					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGATACCCCAGAATGACCTTC	0.353000														21			8		0	0	0.000274275	0	0
GPR152	390212	broad.mit.edu	37	11	67219361	67219361	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:67219361A>G	uc001olm.3	-	0	840	c.835T>C	c.(835-837)Tac>Cac	p.Y279H	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	279						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TAGTCGGAGTAGACCAGGGCC	0.637000														46			9		0	0	0.000274275	0	0
ABCA9	10350	broad.mit.edu	37	17	66981228	66981228	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:66981228G>A	uc002jhu.3	-	32	4393	c.4250C>T	c.(4249-4251)cCc>cTc	p.P1417L	ABCA9_uc010dez.3_Missense_Mutation_p.P1379L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1417	ABC transporter 2.				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)					GGTCTTCACGGGAGCCTTCAG	0.527000														62			5		0	0	0.000602214	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	RNA	SNP	A	G	G	rs111976783		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:96593000A>G	uc010yug.1	-	26		c.1913T>C			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000														49			5		0	0	0.000602214	0	0
ABCA4	24	broad.mit.edu	37	1	94520779	94520779	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:94520779C>T	uc001dqh.3	-	15	2579	c.2475G>A	c.(2473-2475)ggG>ggA	p.G825G	ABCA4_uc010otn.1_Silent_p.G751G	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	825					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)		TGGGACTGTTCCCGATGTTGC	0.542000														52			7		0	0	0.000274275	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														99			11		0	0	0.00136819	0	0
RTN1	6252	broad.mit.edu	37	14	60074019	60074019	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:60074019C>T	uc001xen.1	-	3	2166	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	RTN1_uc001xem.1_Missense_Mutation_p.E233K|RTN1_uc001xek.2_Missense_Mutation_p.E85K|RTN1_uc010apl.2_Missense_Mutation_p.E70K	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	653	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGTGGCCTTCGTCGGTTTTC	0.562000														23			5		0	0	0.00116845	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166862232	166862232	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:166862232C>T	uc003qvd.1	-	15	1500	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	RPS6KA2_uc011ego.1_Missense_Mutation_p.D349N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.D349N|RPS6KA2_uc003qvb.1_Missense_Mutation_p.D438N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.D446N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	438	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity	p.D438N(1)|p.D446N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TACTCGGTGTCTGTGGCTTTA	0.587000														10			5		0	0	0.000602214	0	0
OR10S1	219873	broad.mit.edu	37	11	123847469	123847469	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:123847469C>T	uc001pzm.1	-	0	930	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCAGAGCATGCTTCACCTCCT	0.527000														47			8		0	0	0.000442599	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	108207	108207	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrGL000213.1:108207T>C	uc011mfl.1	-	10	1622	c.1574A>G	c.(1573-1575)gAa>gGa	p.E525G		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	525						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CACGCTGTTTTCACGCAAGAG	0.353000														22			7		0	0	0.000274275	0	0
ADAP2	55803	broad.mit.edu	37	17	29276364	29276364	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:29276364C>T	uc010csk.3	+	6	1014	c.735C>T	c.(733-735)gcC>gcT	p.A245A	ADAP2_uc002hfy.3_Silent_p.A239A|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.A239A	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	239					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAAAATGGCCTTTCCTGAAC	0.527000														71			5		0	0	0.00116845	0	0
TNIK	23043	broad.mit.edu	37	3	170786639	170786639	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:170786639G>A	uc003fhh.2	-	29	4042	c.3697C>T	c.(3697-3699)Cat>Tat	p.H1233Y	TNIK_uc003fhi.2_Missense_Mutation_p.H1178Y|TNIK_uc003fhj.2_Missense_Mutation_p.H1204Y|TNIK_uc003fhk.2_Missense_Mutation_p.H1225Y|TNIK_uc003fhl.2_Missense_Mutation_p.H1149Y|TNIK_uc003fhm.2_Missense_Mutation_p.H1170Y|TNIK_uc003fhn.2_Missense_Mutation_p.H1196Y|TNIK_uc003fho.2_Missense_Mutation_p.H1141Y|TNIK_uc003fhg.2_Missense_Mutation_p.H411Y|TNIK_uc003fhp.3_Missense_Mutation_p.H165Y	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1233	CNH.				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)			GTACTTACATGAGATGGTATG	0.363000														39			7		0	0	0.00307968	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870958	129870958	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:129870958C>T	uc004bqr.1	-	1	553	c.53G>A	c.(52-54)gGa>gAa	p.G18E	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	18					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCAACAGCTCCCATGGCAGC	0.547000														26			6		0	0	0.00198382	0	0
MKX	283078	broad.mit.edu	37	10	27964450	27964450	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:27964450C>T	uc001ity.4	-	6	1097	c.872_splice	c.e6+1	p.S291_splice	MKX_uc001itx.4_Splice_Site_p.S291_splice	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	291					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTTTGCTCACCTTTCACCCTT	0.373000														29			5		0	0	0.000602214	0	0
OR2L3	391192	broad.mit.edu	37	1	248224258	248224258	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:248224258C>T	uc001idx.1	+	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	92					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)			AAGTCTATCTCCTTCACTGGG	0.423000														186			17		0	0	0.00152264	0	0
WNT7A	7476	broad.mit.edu	37	3	13916511	13916511	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:13916511G>A	uc003bye.1	-	1	536	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	77					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						GGCCATTGCGGAACTGAAACT	0.607000														39			4		0	0	0.00116845	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555733	155555733	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:155555733G>A	uc002tyv.1	+	0	641	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	KCNJ3_uc010zce.1_Missense_Mutation_p.R149Q|KCNJ3_uc021vrh.1_Missense_Mutation_p.R149Q	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	149					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TATGGCTACCGATACATCACA	0.557000														32			7		0	0	0.00307968	0	0
GLP2R	9340	broad.mit.edu	37	17	9792722	9792722	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:9792722C>T	uc002gmd.1	+	12	1362	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	454					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGGTCCGCTTCTTGCTAGCCC	0.552000														45			10		0	0	0.000442599	0	0
HAO2	51179	broad.mit.edu	37	1	119936434	119936434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:119936434C>T	uc001ehr.1	+	7	1159	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	HAO2_uc001ehq.1_Nonsense_Mutation_p.R343*	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	343	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGAGATCAATCGAAACTTGGT	0.478000														116			17		0	0	0.00074312	0	0
PGC	5225	broad.mit.edu	37	6	41704688	41704688	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:41704688C>T	uc003ora.2	-	8	1136	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	357					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGGGCTGGCCGTTCTGGGAG	0.557000														52			8		0	0	0.000442599	0	0
DDHD2	23259	broad.mit.edu	37	8	38107265	38107265	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:38107265C>T	uc003xlc.3	+	10	1488	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	DDHD2_uc003xlb.3_Missense_Mutation_p.P430S|DDHD2_uc011lbl.1_Missense_Mutation_p.P242S|DDHD2_uc003xld.3_Missense_Mutation_p.P49S	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	430	SAM.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATAGGAATTCCTTTAGGACC	0.348000														35			6		0	0	0.00116845	0	0
RP1L1	94137	broad.mit.edu	37	8	10465906	10465906	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:10465906G>A	uc003wtc.3	-	3	5931	c.5702C>T	c.(5701-5703)cCa>cTa	p.P1901L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1901					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)		TTCTGACTCTGGCTGGACCTC	0.597000														118			9		0	0	0.000673444	0	0
NR2E3	10002	broad.mit.edu	37	15	72105937	72105937	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:72105937G>A	uc002ati.3	+	6	1145	c.955G>A	c.(955-957)Gag>Aag	p.E319K	NR2E3_uc002ath.1_Missense_Mutation_p.E319K	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	319					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GACCCCCACGGAGTTTGCCTG	0.607000														33			7		0	0	0.00198382	0	0
ELTD1	64123	broad.mit.edu	37	1	79392765	79392765	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:79392765C>T	uc001diq.4	-	7	1045	c.889G>A	c.(889-891)Gtt>Att	p.V297I		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	297					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		ACAAATGCAACTGCAACATTG	0.274000														45			6		0	0	0.00116845	0	0
HEPH	9843	broad.mit.edu	37	X	65409626	65409626	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:65409626C>T	uc011moz.2	+	5	1208	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	HEPH_uc004dwn.3_Silent_p.V306V|HEPH_uc004dwo.3_Silent_p.V36V|HEPH_uc010nkr.3_Silent_p.V306V|HEPH_uc011mpa.2_Silent_p.V306V	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	303	Plastocyanin-like 2.				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						AAATTGATGTCCACACAGCAT	0.478000														16			7		0	0	0.00198382	0	0
OR4N2	390429	broad.mit.edu	37	14	20295781	20295781	+	Silent	SNP	C	T	T	rs141509885	byFrequency	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:20295781C>T	uc010tkv.2	+	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58P(2)		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)		TCACAGCCCCCCTCTATTTCT	0.463000														217			26		0	0	0.000878237	0	0
BCAM	4059	broad.mit.edu	37	19	45315759	45315759	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:45315759C>T	uc002ozu.3	+	3	502	c.458C>T	c.(457-459)tCc>tTc	p.S153F	BCAM_uc002ozt.1_Missense_Mutation_p.S153F	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	153	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACTGAGGTCTCCCCCAACAAA	0.652000														187			28		0	0	0.001512	0	0
KSR2	283455	broad.mit.edu	37	12	118198993	118198993	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:118198993G>A	uc001two.2	-	3	777	c.722C>T	c.(721-723)aCc>aTc	p.T241I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	270	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGTCACGGTGGTGACGAT	0.721000														167			23		0	0	0.00332997	0	0
GRM3	2913	broad.mit.edu	37	7	86468472	86468472	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:86468472G>A	uc003uid.3	+	3	2741	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.D420N|GRM3_uc010leh.3_Missense_Mutation_p.D140N	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	548					synaptic transmission	integral to plasma membrane		p.D548N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TACCTGTATGGATTGTGGGTC	0.527000														88			7		0	0	0.000274275	0	0
TBXAS1	6916	broad.mit.edu	37	7	139636089	139636089	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:139636089C>T	uc011kqv.2	+	4	671	c.436C>T	c.(436-438)Cct>Tct	p.P146S	TBXAS1_uc003vvh.3_Missense_Mutation_p.P146S|TBXAS1_uc010lne.3_Missense_Mutation_p.P78S|TBXAS1_uc011kqu.2_Missense_Mutation_p.P97S|TBXAS1_uc003vvi.3_Missense_Mutation_p.P146S|TBXAS1_uc011kqw.2_Missense_Mutation_p.P126S|TBXAS1_uc003vvj.3_Missense_Mutation_p.P146S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	145					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGCTTTCAGTCCTGAAAAGCT	0.483000														184			27		0	0	0.00106085	0	0
DCLRE1C	64421	broad.mit.edu	37	10	15063863	15063863	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:15063863C>T	uc021pni.1	-	1	1	c.-42_splice	c.e1-1		ACBD7_uc010qby.1_Splice_Site	NM_022487	NP_071932	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant b, mRNA.						DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CAATAGATATCTGTAAAAATA	0.338000								Non-homologous end-joining						47			6		0	0	0.00116845	0	0
PRTG	283659	broad.mit.edu	37	15	55930818	55930818	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:55930818G>A	uc002adg.3	-	13	2429	c.2381C>T	c.(2380-2382)gCc>gTc	p.A794V		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	794	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TAATCGAACGGCAAATTCGTA	0.388000														55			10		0	0	0.000442599	0	0
ICA1L	130026	broad.mit.edu	37	2	203693608	203693608	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:203693608A>G	uc002uzh.1	-	2	289	c.125T>C	c.(124-126)tTg>tCg	p.L42S	ICA1L_uc002uzi.1_Missense_Mutation_p.L42S|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.L42S|ICA1L_uc002uzk.1_Missense_Mutation_p.L42S	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	42										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGACGCCACCAAGTGCTCATC	0.398000														551			60		0	0	0.00361006	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533211	22533211	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:22533211G>A	uc010kum.2	-	2	529	c.329C>T	c.(328-330)cCa>cTa	p.P110L	STEAP1B_uc003svh.3_Missense_Mutation_p.P91L	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	91						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						GACCAGGATTGGAATTTTATA	0.388000														41			7		0	0	0.000274275	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975835	34975835	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr21:34975835G>A	uc021wio.1	-	6	520	c.340C>T	c.(340-342)Cca>Tca	p.P114S	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.P138S|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	114					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						ACCTTTTCTGGTTTATGAACT	0.433000														50			7		0	0	0.00307968	0	0
VHLL	391104	broad.mit.edu	37	1	156268578	156268578	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:156268578G>A	uc001fok.3	-	0	851	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	135	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					ATACACTGCAGTGTGATGTTG	0.453000														123			16		0	0	0.00074312	0	0
OR5V1	81696	broad.mit.edu	37	6	29323829	29323829	+	Silent	SNP	C	T	T	rs140570809		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:29323829C>T	uc011dlo.2	-	0	226	c.144G>A	c.(142-144)acG>acA	p.T48T		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGTCACAGTCGTCAAGATAA	0.388000														168			16		0	0	0.00152264	0	0
PTCD2	79810	broad.mit.edu	37	5	71618054	71618054	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:71618054G>A	uc003kcb.3	+	1	193	c.183G>A	c.(181-183)aaG>aaA	p.K61K	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Silent_p.K61K|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	61										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TTCAACAAAAGAAAGTGGCTG	0.284000														182			27		0	0	0.00178596	0	0
TNFRSF8	943	broad.mit.edu	37	1	12175638	12175638	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:12175638C>A	uc001atq.3	+	7	1020	c.798C>A	c.(796-798)gaC>gaA	p.D266E	TNFRSF8_uc010obc.2_Missense_Mutation_p.D155E	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	266					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTAGATGACCTTGTGGAGA	0.572000														92			7		2.17888e-05	6.66151e-05	0.000442599	1	0
KCNH5	27133	broad.mit.edu	37	14	63174974	63174974	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:63174974G>A	uc001xfx.3	-	10	2270	c.2219C>T	c.(2218-2220)tCc>tTc	p.S740F	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	740					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			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)		ATTCTGTAAGGAGCGGCTCTC	0.532000														71			9		0	0	0.000274275	0	0
CMAS	55907	broad.mit.edu	37	12	22199428	22199428	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:22199428A>G	uc001rfm.3	+	0	270	c.191A>G	c.(190-192)aAg>aGg	p.K64R	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	64					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AAGAACATTAAGCACCTGGCG	0.692000														14			3		0	0	6.4e-05	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393490	136393490	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:136393490G>A	uc002tuo.3	+	9	1099	c.729G>A	c.(727-729)aaG>aaA	p.K243K	R3HDM1_uc010fni.3_Silent_p.K241K|R3HDM1_uc002tup.3_Silent_p.K187K|R3HDM1_uc010zbh.2_Silent_p.K75K	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	243							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AACATATTAAGGATGATAAAG	0.299000														160			20		0	0	0.00278032	0	0
RUSC2	9853	broad.mit.edu	37	9	35559262	35559262	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:35559262C>T	uc003zww.3	+	8	3636	c.3381C>T	c.(3379-3381)aaC>aaT	p.N1127N	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.N1127N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1127	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTCTATAACCACGAAGGTA	0.478000														41			4		0	0	0.000602214	0	0
HAO2	51179	broad.mit.edu	37	1	119927555	119927555	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:119927555C>T	uc001ehr.1	+	3	572	c.440C>T	c.(439-441)tCc>tTc	p.S147F	HAO2_uc001ehq.1_Missense_Mutation_p.S147F	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	147	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGGGTAGAATCCCTAGGTTTC	0.463000														78			14		0	0	0.00400662	0	0
PPM1E	22843	broad.mit.edu	37	17	57043082	57043082	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:57043082C>T	uc002iwx.3	+	2	738	c.611C>T	c.(610-612)tCt>tTt	p.S204F	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	213					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R203S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TTGGCCCGTTCTGTCTTCAGC	0.463000														218			39		0	0	0.00222228	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169640	169640	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:169640A>C	uc003jak.2	+	11	2644	c.2594A>C	c.(2593-2595)cAc>cCc	p.H865P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	865	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACCAGCAGCACTTCCTCCGG	0.602000														94			7		0	0	0.00198382	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16953030	16953030	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrY:16953030C>T	uc011nas.1	+	6	2578	c.2399C>T	c.(2398-2400)aCc>aTc	p.T800I	NLGN4Y_uc004fte.2_Missense_Mutation_p.T612I|NLGN4Y_uc004ftg.2_Missense_Mutation_p.T780I|NLGN4Y_uc004ftf.2_Missense_Mutation_p.T473I|NLGN4Y_uc004fth.2_Missense_Mutation_p.T780I	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	780					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						AACACCATCACCATGATTCCA	0.522000														34			12		0	0	0.00316338	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847340	130847340	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:130847340G>A	uc001uik.3	+	16	2271	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K	PIWIL1_uc001uij.2_Missense_Mutation_p.R667K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	667	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTCAGGATAGAGGACAGGAG	0.423000														50			9		0	0	0.000274275	0	0
NCOA1	8648	broad.mit.edu	37	2	24991212	24991212	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:24991212C>T	uc002rfk.3	+	20	4537	c.4278C>T	c.(4276-4278)acC>acT	p.T1426T	NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Silent_p.T1425T|NCOA1_uc010eyf.3_3'UTR	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1426									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCACAGACCCCCCAGGCCC	0.488000			T	PAX3	alveolar rhadomyosarcoma									43			7		0	0	0.000274275	0	0
OR4C11	219429	broad.mit.edu	37	11	55371070	55371070	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:55371070C>T	uc010rii.2	-	0	805	c.780G>A	c.(778-780)ccG>ccA	p.P260P		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	260					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						GGAAAGTGGTCGGGGGGCGTG	0.438000														49			6		0	0	0.00116845	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75928806	75928806	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:75928806C>T	uc003yan.3	+	6	1244	c.734C>T	c.(733-735)tCa>tTa	p.S245L	CRISPLD1_uc011lfk.2_Missense_Mutation_p.S57L|CRISPLD1_uc011lfl.2_Missense_Mutation_p.S57L	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.	245						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ACAGAAGGGTCAGACAGGTAT	0.358000														89			18		0	0	0.00074312	0	0
EPRS	2058	broad.mit.edu	37	1	220156683	220156683	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:220156683G>A	uc001hly.1	-	21	3418	c.3148C>T	c.(3148-3150)Cgt>Tgt	p.R1050C	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1050	Prolyl-tRNA synthetase.				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)	GCCCAGGGACGAAGAATATAA	0.378000														49			5		0	0	0.00198382	0	0
PPM1H	57460	broad.mit.edu	37	12	63114014	63114014	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:63114014C>T	uc001srk.3	-	5	1159	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	337	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTGTACTCTCCTTGGAAACTC	0.428000														133			14		0	0	0.00400662	0	0
OR8B12	219858	broad.mit.edu	37	11	124413287	124413287	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:124413287C>T	uc010sam.2	-	0	264	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		AAATGATGTTCTTCCTTGAGA	0.433000														64			7		0	0	0.00307968	0	0
ZIM3	114026	broad.mit.edu	37	19	57646475	57646475	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:57646475C>T	uc002qnz.1	-	4	1616	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGAGTTTTCTGATGGCTAT	0.383000														155			15		0	0	0.000566183	0	0
DBC1	1620	broad.mit.edu	37	9	121929766	121929766	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:121929766G>A	uc004bkc.2	-	7	2338	c.1882C>T	c.(1882-1884)Cta>Tta	p.L628L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	628					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTTCGCAGTAGGGTAGGTAGC	0.537000														99			16		0	0	0.00400662	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689645	30689645	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:30689645G>A	uc010gvu.3	-	7	1151	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Nonsense_Mutation_p.Q207*|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc003ahk.4_Nonsense_Mutation_p.Q349*	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	349						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGTACCTCCTGGACCAGAAAG	0.637000														34			5		0	0	0.00198382	0	0
OR6C74	254783	broad.mit.edu	37	12	55641806	55641806	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:55641806C>T	uc010spg.2	+	0	735	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACATGGTGGTCGTGTCCATTT	0.388000														98			7		0	0	0.00307968	0	0
GRM8	2918	broad.mit.edu	37	7	126410017	126410017	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:126410017T>C	uc003vlr.2	-	5	1570	c.1259A>G	c.(1258-1260)cAc>cGc	p.H420R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.H420R|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.H141R	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	420					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)	GAGATCTTTGTGCATATTGTG	0.428000										HNSCC(24;0.065)				41			5		0	0	0.00116845	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590863	125590863	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:125590863G>A	uc010inw.3	-	3	4607	c.3569C>T	c.(3568-3570)tCa>tTa	p.S1190L	ANKRD50_uc011cgo.2_Missense_Mutation_p.S1011L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1190	Ser-rich.							p.S1190A(1)|p.N1189K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCTCAAAGATGAATTTTTTGA	0.383000														83			21		0	0	0.00121646	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098169	56098169	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:56098169G>A	uc002rzi.3	-	9	1591	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	EFEMP1_uc002rzj.3_Missense_Mutation_p.P364S|EFEMP1_uc010ypc.2_Missense_Mutation_p.P226S	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	364	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				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	p.P364S(2)		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)			TCTTGACAAGGATTTCGTGGA	0.403000														55			6		0	0	0.00116845	0	0
FAM5C	339479	broad.mit.edu	37	1	190067958	190067958	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:190067958C>T	uc001gse.1	-	7	1723	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	FAM5C_uc010pot.1_Missense_Mutation_p.M395I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	497						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)					GCAGATATTTCATCTCGAGAT	0.498000														139			17		0	0	0.00121646	0	0
UNC13B	10497	broad.mit.edu	37	9	35382413	35382413	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:35382413C>T	uc003zwr.3	+	19	2760	c.2468C>T	c.(2467-2469)aCc>aTc	p.T823I	UNC13B_uc003zwq.3_Missense_Mutation_p.T823I	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	823					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGATGAGCACCTTACTGGCC	0.502000														89			17		0	0	0.000566183	0	0
KCNE1	3753	broad.mit.edu	37	21	35821668	35821668	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr21:35821668C>T	uc021wit.1	-	0	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KCNE1_uc010gmp.3_Missense_Mutation_p.E89K|KCNE1_uc002ytz.3_Missense_Mutation_p.E89K|KCNE1_uc010gmq.3_Missense_Mutation_p.E89K|KCNE1_uc010gmr.3_Missense_Mutation_p.E89K|KCNE1_uc010gms.3_Missense_Mutation_p.E89K|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	89					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	p.E89G(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TTGTCCTTCTCTTGCCAGGCA	0.547000														370			42		0	0	0.00148497	0	0
CASS4	57091	broad.mit.edu	37	20	55028110	55028110	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:55028110C>T	uc002xxp.2	+	5	2103	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	CASS4_uc002xxq.4_Silent_p.T626T|CASS4_uc010zze.1_Silent_p.T572T|CASS4_uc002xxr.2_Silent_p.T626T|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	626					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						AAAAGAGTACCCCTTCCACTA	0.413000														32			6		0	0	0.00198382	0	0
XIRP2	129446	broad.mit.edu	37	2	168101840	168101840	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:168101840G>A	uc002udx.3	+	8	4027	c.3938G>A	c.(3937-3939)aGa>aAa	p.R1313K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1138K|XIRP2_uc010fpq.3_Missense_Mutation_p.R1091K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1138					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						AAAAGCTACAGAATGCTCTTT	0.368000														57			6		0	0	0.00198382	0	0
RRP12	23223	broad.mit.edu	37	10	99139485	99139485	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:99139485G>A	uc001knf.3	-	13	1715	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	RRP12_uc009xvm.3_Missense_Mutation_p.P244S|RRP12_uc010qou.2_Missense_Mutation_p.P465S|RRP12_uc009xvn.3_Missense_Mutation_p.P426S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	526						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCCGTGTGGGGGAAATGAGGG	0.597000														32			8		0	0	0.000442599	0	0
OR8A1	390275	broad.mit.edu	37	11	124440858	124440858	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:124440858C>T	uc010san.2	+	0	894	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		CCACGGTAATCCCCATGTTGA	0.448000														30			7		0	0	0.00307968	0	0
ABCC4	10257	broad.mit.edu	37	13	95858972	95858972	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:95858972G>A	uc001vmd.4	-	7	1094	c.975C>T	c.(973-975)ttC>ttT	p.F325F	ABCC4_uc010afk.3_Silent_p.F325F|ABCC4_uc001vme.2_Silent_p.F325F|ABCC4_uc010tih.1_Silent_p.F250F|ABCC4_uc001vmf.2_Silent_p.F282F|ABCC4_uc010afl.1_Silent_p.F282F|ABCC4_uc010afm.1_Silent_p.F338F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	325	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGCTTGCACTGAAAAATGAAG	0.473000														163			17		0	0	0.00074312	0	0
NOX3	50508	broad.mit.edu	37	6	155774583	155774584	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:155774583_155774584GG>AA	uc003qqm.3	-	3	397_398	c.294_295CC>TT	c.(292-297)aacctc>aaTTtc	p.L99F		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	99	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAATCTGAGGTTTTTGTCTA	0.366000														271			27		0	0	6.4e-05	0	0
RNF133	168433	broad.mit.edu	37	7	122338646	122338646	+	Silent	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:122338646A>G	uc003vkj.1	-	0	563	c.327T>C	c.(325-327)ggT>ggC	p.G109G	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	109	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGAAGGTACAACCTCCCCGTT	0.463000														117			11		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179654155	179654155	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:179654155C>T	uc021vsy.1	-	12	2233	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	TTN_uc021vsz.1_Missense_Mutation_p.E624K|TTN_uc021vta.1_Missense_Mutation_p.E624K|TTN_uc021vtb.1_Missense_Mutation_p.E624K|TTN_uc002unb.2_Missense_Mutation_p.E670K|TTN_uc010frg.1_Missense_Mutation_p.E252K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	670							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)			AGTATTGTTTCTTGTTCTTTG	0.378000														82			10		0	0	0.000442599	0	0
DGKB	1607	broad.mit.edu	37	7	14661117	14661117	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:14661117T>A	uc003ssz.3	-	13	1360	c.1173A>T	c.(1171-1173)gaA>gaT	p.E391D	DGKB_uc011jxt.2_Missense_Mutation_p.E372D|DGKB_uc003sta.3_Missense_Mutation_p.E391D|DGKB_uc011jxu.2_Missense_Mutation_p.E390D	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	391					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTGATTGTCTTTCCTGTAAAA	0.289000														16			8		0	0	0.000274275	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074358	73074358	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:73074358C>T	uc001otu.3	+	14	5125	c.5104C>T	c.(5104-5106)Ccc>Tcc	p.P1702S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1702					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCCTGGTGGTCCCTGCGGCAC	0.667000														22			5		0	0	0.000602214	0	0
OR8H1	219469	broad.mit.edu	37	11	56058290	56058290	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:56058290C>T	uc010rje.2	-	0	249	c.249G>A	c.(247-249)gcG>gcA	p.A83A		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCAGTAAGTTCGCTAAGGTTT	0.418000														231			18		0	0	0.00152264	0	0
TXNL1	9352	broad.mit.edu	37	18	54293650	54293650	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:54293650G>A	uc002lgg.3	-	1	736	c.137C>T	c.(136-138)tCt>tTt	p.S46F	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Missense_Mutation_p.S46F|TXNL1_uc002lgj.1_Missense_Mutation_p.S46F	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	46	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATTACTCATAGAACTGAATGC	0.348000														135			20		0	0	0.00332997	0	0
MGAM	8972	broad.mit.edu	37	7	141752605	141752605	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:141752605C>T	uc003vwy.3	+	25	3034	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	994	P-type 2.				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)	TTCTGGAGTCCCTTTTTGCTA	0.418000														103			12		0	0	0.00400662	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739956	91739956	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:91739956G>A	uc010aty.3	-	29	5254	c.5100C>T	c.(5098-5100)ttC>ttT	p.F1700F	CCDC88C_uc001xzj.3_Silent_p.F224F|CCDC88C_uc001xzi.3_Silent_p.F150F	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1700					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGCCTTTCGGAAGTAGTCAC	0.607000														41			10		0	0	0.00185496	0	0
ADAM30	11085	broad.mit.edu	37	1	120437452	120437452	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:120437452C>T	uc001eij.3	-	0	1696	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	503	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTGCATATATCTGGATCTGCA	0.458000														450			52		0	0	0.00361006	0	0
PCOLCE	5118	broad.mit.edu	37	7	100200087	100200087	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:100200087C>T	uc003uvo.3	+	0	206	c.8C>T	c.(7-9)cCt>cTt	p.P3L	LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_Missense_Mutation_p.P3L	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	3					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCATGCTGCCTGCAGCCACA	0.652000														39			5		0	0	0.000602214	0	0
FAM209B	388799	broad.mit.edu	37	20	55100954	55100954	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:55100954C>T	uc002xxx.3	+	1	424	c.344C>T	c.(343-345)aCc>aTc	p.T115I	GCNT7_uc010zzg.1_5'UTR|FAM209B_uc010zzh.2_Intron	NM_001012971	NP_001012989	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member A (FAM209A), mRNA.	115						integral to membrane											GCATTCAATACCTTAATGGAA	0.473000														78			7		0	0	0.00307968	0	0
PABPC3	5042	broad.mit.edu	37	13	25671984	25671984	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:25671984C>T	uc001upy.3	+	0	1709	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	550	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATCTGCCCCTCCTCAAAAGCA	0.468000														99			14		0	0	0.00316338	0	0
NFATC3	4775	broad.mit.edu	37	16	68224858	68224858	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:68224858C>T	uc002evo.2	+	8	2602	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S	NFATC3_uc010vkl.2_Silent_p.S283S|NFATC3_uc010vkm.2_Silent_p.S283S|NFATC3_uc010vkn.2_Silent_p.S283S|NFATC3_uc010vko.2_Silent_p.S283S|NFATC3_uc010vkp.2_Silent_p.S283S|NFATC3_uc010vkq.2_Silent_p.S283S|NFATC3_uc002evl.3_Silent_p.S283S|NFATC3_uc002evk.3_Silent_p.S762S|NFATC3_uc002evm.2_Silent_p.S762S|NFATC3_uc002evn.2_Silent_p.S762S|NFATC3_uc010vkr.2_Silent_p.S283S|NFATC3_uc010vks.2_Silent_p.S283S|NFATC3_uc010vkt.2_Silent_p.S283S|NFATC3_uc010vku.2_Silent_p.S283S|NFATC3_uc010vkv.2_Silent_p.S283S|NFATC3_uc010vkw.2_Silent_p.S283S|NFATC3_uc010vkx.2_Silent_p.S283S|NFATC3_uc010vky.2_Silent_p.S283S|NFATC3_uc010vkz.2_Silent_p.S283S|NFATC3_uc010vla.2_Silent_p.S283S|NFATC3_uc010vlb.2_Silent_p.S283S|NFATC3_uc010vlc.2_Silent_p.S283S	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	762					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGACCTCATCCCATCTGCCAC	0.448000														47			7		0	0	0.00198382	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244805	11244805	+	Silent	SNP	A	T	T	rs149617536	by1000genomes	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:11244805A>T	uc001qzq.1	-	0	108	c.24T>A	c.(22-24)atT>atA	p.I8I	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	Homo sapiens taste receptor, type 2, member 43 (TAS2R43), mRNA.	8					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GACTGGAAAAAATGATGGGTA	0.378000														30			5		0	0	0.00198382	0	0
OR10A5	144124	broad.mit.edu	37	11	6867192	6867192	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:6867192C>T	uc001met.1	+	0	279	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ACACAACCATCTCCTTCCTTG	0.493000														64			8		0	0	0.000442599	0	0
MYH6	4624	broad.mit.edu	37	14	23863388	23863388	+	Silent	SNP	G	A	A	rs148596692		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:23863388G>A	uc001wjv.3	-	20	2645	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	858					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)		TGATGCGCCCGAACTCTTCCT	0.572000														70			10		0	0	0.000978159	0	0
IL36B	27177	broad.mit.edu	37	2	113783768	113783768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:113783768C>T	uc002tiq.1	-	4	407	c.303G>A	c.(301-303)tgG>tgA	p.W101*		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	101					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						caactagtttccagcaagtgt	0.468000														64			6		0	0	0.00116845	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673246	141673246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:141673246G>A	uc003vwx.1	-	0	328	c.244C>T	c.(244-246)Cag>Tag	p.Q82*		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	82					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)					CTCAACTTCTGGAAGTGGGTA	0.527000														136			18		0	0	0.00188189	0	0
DNAH10	196385	broad.mit.edu	37	12	124350550	124350550	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:124350550T>C	uc001uft.4	+	39	6768	c.6743T>C	c.(6742-6744)gTt>gCt	p.V2248A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2248	AAA 2 (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)		TGTGGAATGGTTTATGTGGAT	0.333000														73			7		0	0	0.000274275	0	0
CEP164	22897	broad.mit.edu	37	11	117261579	117261579	+	Missense_Mutation	SNP	G	A	A	rs142184414	byFrequency	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:117261579G>A	uc001prc.3	+	15	2168	c.2021G>A	c.(2020-2022)cGa>cAa	p.R674Q	CEP164_uc001prb.3_Missense_Mutation_p.R677Q|CEP164_uc010rxk.1_Missense_Mutation_p.R648Q|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.R107Q	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	674	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCCTGGCTCCGAGCTCAGGTC	0.597000														54			7		0	0	0.00198382	0	0
ADCK2	90956	broad.mit.edu	37	7	140373513	140373514	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:140373513_140373514CC>TT	uc003vvy.1	+	0	561_562	c.383_384CC>TT	c.(382-384)acc>aTT	p.T128I	ADCK2_uc003vvz.3_Missense_Mutation_p.T128I	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	128						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AGCGTCTCCACCCTCTGGCTCC	0.629000														82			6		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13762921	13762921	+	Silent	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:13762921T>C	uc003jfd.2	-	59	10233	c.10191A>G	c.(10189-10191)aaA>aaG	p.K3397K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3397	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACATACGCGTTTAGCAGTTT	0.398000									Kartagener syndrome					73			5		0	0	0.00198382	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461368	10461368	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:10461368C>T	uc021xwo.1	+	4	673	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ROPN1L_uc003jex.4_Missense_Mutation_p.P164S	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	164					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGCTCGCATCCCCTTCAAGAC	0.567000														80			13		0	0	0.00185496	0	0
C2CD3	26005	broad.mit.edu	37	11	73748620	73748620	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:73748620G>A	uc001ouu.2	-	29	6011	c.5784C>T	c.(5782-5784)gaC>gaT	p.D1928D	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1928						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCCCAAGATGGTCCCTACAGC	0.552000														83			17		0	0	0.000566183	0	0
BAZ2B	29994	broad.mit.edu	37	2	160294890	160294891	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:160294890_160294891GG>AA	uc002uao.3	-	7	1621_1622	c.1216_1217CC>TT	c.(1216-1218)cct>TTt	p.P406F	BAZ2B_uc002uap.3_Missense_Mutation_p.P404F|BAZ2B_uc002uas.1_Missense_Mutation_p.P343F|BAZ2B_uc002uau.1_Missense_Mutation_p.P404F|BAZ2B_uc002uaq.1_Missense_Mutation_p.P334F|BAZ2B_uc002uat.4_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.P404F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGAACATCAGGAGAAGGAACT	0.351000														47			7		0	0	6.4e-05	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547838	35547838	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:35547838G>A	uc002xgh.2	-	6	981	c.781C>T	c.(781-783)Cct>Tct	p.P261S		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	261	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)				TCTTCTTCAGGGATGAGACCA	0.348000														63			15		0	0	0.00316338	0	0
C12orf63	374467	broad.mit.edu	37	12	97147664	97147664	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:97147664C>T	uc021rcc.1	+	22	3181	c.3103C>T	c.(3103-3105)Ctt>Ttt	p.L1035F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1035								p.L1035P(1)		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						AGCTGAAATCCTTTTTCAGAA	0.423000														47			6		0	0	0.00116845	0	0
OR2A14	135941	broad.mit.edu	37	7	143826686	143826686	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:143826686C>T	uc011kua.2	+	0	481	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCTTTAGTTCTCATCCTGAG	0.542000														213			24		0	0	0.00106085	0	0
C1orf173	127254	broad.mit.edu	37	1	75036989	75036989	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:75036989C>T	uc001dgg.3	-	13	4624	c.4405G>A	c.(4405-4407)Gga>Aga	p.G1469R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1469	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGCTGCTCCTGTCTCCTGC	0.582000														96			10		0	0	0.00136819	0	0
FHOD3	80206	broad.mit.edu	37	18	33952695	33952695	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:33952695C>T	uc021uiv.1	+	2	422	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	FHOD3_uc002kzr.1_Missense_Mutation_p.H109Y|FHOD3_uc002kzs.1_Missense_Mutation_p.H109Y|FHOD3_uc002kzt.1_Missense_Mutation_p.H109Y	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	109	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGTGAGGGTCCATGCCTGCAT	0.498000														16			4		0	0	0.00116845	0	0
EEF2K	29904	broad.mit.edu	37	16	22285017	22285017	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:22285017C>T	uc002dki.3	+	15	2320	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	612	Pseudosubstrate/autoinhibitory domain (Potential).				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GACAGGCAGTCCATGATCCTA	0.527000														42			10		0	0	0.000442599	0	0
CNGB3	54714	broad.mit.edu	37	8	87666270	87666270	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:87666270C>T	uc003ydx.3	-	6	921	c.873G>A	c.(871-873)agG>agA	p.R291R	CNGB3_uc010maj.3_Silent_p.R153R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	291					signal transduction|visual perception	integral to membrane	cGMP binding			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						TGTAGTGTTTCCTTAGCTCAT	0.289000														59			7		0	0	0.00198382	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677377	37677377	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:37677377G>A	uc002ofq.3	-	4	1314	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	ZNF585B_uc002ofr.1_Silent_p.S168S	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	354					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)			CAGTACATATGGAAGATTTCT	0.403000														105			12		0	0	0.00136819	0	0
FPR1	2357	broad.mit.edu	37	19	52249706	52249706	+	Missense_Mutation	SNP	G	A	A	rs146075164		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:52249706G>A	uc021uyn.1	-	2	688	c.542C>T	c.(541-543)tCg>tTg	p.S181L	FPR1_uc002pxq.3_Missense_Mutation_p.S181L|FPR1_uc021uyo.1_Missense_Mutation_p.S181L	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	181					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.S181L(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGTCCAGGGCGAAAAGTTAAA	0.527000														67			12		0	0	0.00136819	0	0
MICAL1	64780	broad.mit.edu	37	6	109773593	109773593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:109773593G>A	uc011eaq.2	-	5	1036	c.745C>T	c.(745-747)Cga>Tga	p.R249*	MICAL1_uc003ptj.3_Nonsense_Mutation_p.R230*|MICAL1_uc003ptk.3_Nonsense_Mutation_p.R230*|MICAL1_uc010kdr.3_Nonsense_Mutation_p.R230*	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	230					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.T249T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGCATTTCTCGAACTTTGAAG	0.537000														96			10		0	0	0.000442599	0	0
COLEC10	10584	broad.mit.edu	37	8	120118244	120118244	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:120118244G>A	uc003yoo.3	+	5	745	c.648G>A	c.(646-648)agG>agA	p.R216R		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	216	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			ACCTTGAAAGGGAGGGACAGT	0.517000														29			6		0	0	0.00116845	0	0
TTBK1	84630	broad.mit.edu	37	6	43220587	43220587	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:43220587C>T	uc003ouq.1	+	2	498	c.219C>T	c.(217-219)gtC>gtT	p.V73V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	73	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAAGCAGGTCCTCAAGATGG	0.617000														56			9		0	0	0.000673444	0	0
MYLK	4638	broad.mit.edu	37	3	123419615	123419615	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:123419615G>A	uc003ego.3	-	17	2982	c.2700C>T	c.(2698-2700)ctC>ctT	p.L900L	MYLK_uc011bjw.2_Silent_p.L900L|MYLK_uc003egp.3_Silent_p.L831L|MYLK_uc003egq.3_Silent_p.L900L|MYLK_uc003egr.3_Silent_p.L831L|MYLK_uc003egs.3_Silent_p.L724L|MYLK_uc003egt.3_Silent_p.L91L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	900	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTCCCCAGGAGGTCTCGGA	0.612000														48			5		0	0	0.000602214	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870326	47870326	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:47870326G>A	uc002xui.3	-	10	3229	c.2982C>T	c.(2980-2982)atC>atT	p.I994I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	994							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)			CCTTCTGTAGGATCTGGCGGT	0.557000														194			14		0	0	0.00152264	0	0
PGM3	5238	broad.mit.edu	37	6	83892682	83892682	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:83892682G>T	uc011dyz.2	-	5	726	c.557C>A	c.(556-558)aCa>aAa	p.T186K	PGM3_uc003pju.2_Missense_Mutation_p.T158K|PGM3_uc003pjw.3_Missense_Mutation_p.T77K|PGM3_uc021zcd.1_Missense_Mutation_p.T158K	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	158					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTGGGGTGTTGTTAACAAGCC	0.383000														43			7		0.000274275	0.000835243	0.000274275	1	0
SERPINF2	5345	broad.mit.edu	37	17	1657539	1657539	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:1657539C>T	uc002ftk.1	+	9	1264	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	SERPINF2_uc010vqr.1_Missense_Mutation_p.A332V|SERPINF2_uc021tnm.1_Missense_Mutation_p.A396V	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	396					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GCGGCGGCGGCCACCAGCATT	0.652000														95			15		0	0	0.00316338	0	0
CELSR3	1951	broad.mit.edu	37	3	48688421	48688421	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:48688421G>A	uc003cuf.1	-	16	6484	c.6484C>T	c.(6484-6486)Cac>Tac	p.H2162Y	CELSR3_uc010hkg.3_Missense_Mutation_p.H70Y|CELSR3_uc003cul.3_Missense_Mutation_p.H2092Y	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2092					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)		TGCCCGCTGTGGGGTGCACAT	0.657000														47			6		0	0	0.00116845	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558458	106558458	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:106558458G>A	uc009yxn.1	-	8	2499	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	GUCY1A2_uc001pjg.1_Silent_p.F672F|GUCY1A2_uc010rvo.1_Silent_p.F693F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	672					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAATGAATGTGAAACTTTCTT	0.408000														110			23		0	0	0.00395357	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452397	234452397	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:234452397C>T	uc001hvy.1	+	4	1023	c.878C>T	c.(877-879)gCt>gTt	p.A293V	SLC35F3_uc001hwa.1_Missense_Mutation_p.A224V	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	224					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)			ATGACCTACGCTGATGGCTTC	0.582000														172			26		0	0	0.00332997	0	0
EDN1	1906	broad.mit.edu	37	6	12296257	12296257	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:12296257C>T	uc003nae.4	+	4	930	c.596C>T	c.(595-597)cCc>cTc	p.P199L	EDN1_uc003nad.3_3'UTR|EDN1_uc003naf.4_Missense_Mutation_p.P198L	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	199					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	p.K198N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AAAGGCAAGCCCTCCAGAGAG	0.488000														158			14		0	0	0.00400662	0	0
PENK	5179	broad.mit.edu	37	8	57354293	57354293	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:57354293C>T	uc003xsz.2	-	1	423	c.342G>A	c.(340-342)atG>atA	p.M114I	PENK_uc003xta.3_Missense_Mutation_p.M114I	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	114					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)			AAAGCTCATCCATTTTCTTCA	0.498000														98			11		0	0	0.000673444	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159941	167159941	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:167159941G>A	uc003fes.1	-	8	1275	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	SERPINI2_uc003fer.1_Missense_Mutation_p.P392S|SERPINI2_uc003fet.1_Missense_Mutation_p.P392S	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	392					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGGGTGTCAGGATTTGTCACT	0.323000														28			7		0	0	0.000274275	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039521	55039521	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:55039521G>A	uc003pcl.3	+	0	451	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	46					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTGTGGAGGGAATACCTGCA	0.537000														65			12		0	0	0.00136819	0	0
MRAS	22808	broad.mit.edu	37	3	138091750	138091750	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:138091750G>A	uc003esh.4	+	1	721	c.25G>A	c.(25-27)Gac>Aac	p.D9N	MRAS_uc011bmi.2_Intron|MRAS_uc003esi.4_Missense_Mutation_p.D9N|MRAS_uc021xep.1_Intron|MRAS_uc011bmj.2_Intron|MRAS_uc021xeq.1_Missense_Mutation_p.D9N	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	9					Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CGTCCCCAGTGACAACCTCCC	0.527000														215			35		0	0	0.00375469	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375292	113375292	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:113375292G>A	uc003eam.3	-	6	5648	c.5237C>T	c.(5236-5238)cCc>cTc	p.P1746L	KIAA2018_uc003eal.3_Missense_Mutation_p.P1690L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1746					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.Q1745H(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTACTCTGGGGCTGTTGACT	0.428000														67			15		0	0	0.00244969	0	0
TRIM42	287015	broad.mit.edu	37	3	140397075	140397075	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:140397075G>A	uc003eto.2	+	0	210	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	2						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGGCACCATGGAAACTGCTAT	0.512000														99			20		0	0	0.000958276	0	0
PRRC2A	7916	broad.mit.edu	37	6	31596977	31596977	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:31596977C>T	uc003nvb.4	+	12	2071	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P608S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	608	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						GGTTCCTCCTCCTACCACACC	0.537000														83			7		0	0	0.00198382	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964304	69964304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:69964304G>A	uc003heg.4	+	1	814	c.768G>A	c.(766-768)tgG>tgA	p.W256*	UGT2B7_uc010ihq.3_Nonsense_Mutation_p.W256*	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	256					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V255I(1)		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						CTGACGTATGGCTTATTCGAA	0.408000														90			7		0	0	0.000442599	0	0
CXXC5	51523	broad.mit.edu	37	5	139060581	139060581	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:139060581G>A	uc010jfg.1	+	1	763	c.473G>A	c.(472-474)gGa>gAa	p.G158E	CXXC5_uc003let.2_Missense_Mutation_p.G158E	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCGAGGGACAGCTGACG	0.632000														63			9		0	0	0.000274275	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														48			5		0	0	0.000602214	0	0
BAI3	577	broad.mit.edu	37	6	69703712	69703712	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:69703712C>T	uc010kak.3	+	9	2063	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	BAI3_uc003pev.4_Missense_Mutation_p.S596F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	596					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GATGGAATGTCCCAGGTGACC	0.438000														201			32		0	0	0.00327116	0	0
CDH23	64072	broad.mit.edu	37	10	73406336	73406336	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:73406336G>A	uc001jrx.4	+	12	1795	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	CDH23_uc001jrw.4_Missense_Mutation_p.E469K|CDH23_uc001jry.3_Missense_Mutation_p.E469K|CDH23_uc001jrz.3_Missense_Mutation_p.E469K|CDH23_uc021psl.1_Missense_Mutation_p.E471K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	471	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGCCTGTACGAGAACGTCAC	0.582000														98			11		0	0	0.00136819	0	0
NCKAP1	10787	broad.mit.edu	37	2	183795425	183795425	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:183795425G>A	uc002upc.3	-	26	3353	c.2951C>T	c.(2950-2952)tCg>tTg	p.S984L	NCKAP1_uc002upb.3_Missense_Mutation_p.S990L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	984					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.S990L(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATTTTACCCGATTTTTGTGA	0.353000														26			6		0	0	0.00198382	0	0
VWA3B	200403	broad.mit.edu	37	2	98804438	98804438	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:98804438G>A	uc002syo.3	+	10	1576	c.1312_splice	c.e10-1	p.E438_splice	VWA3B_uc010yvh.2_Splice_Site_p.E288_splice|VWA3B_uc002syj.3_Splice_Site|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Splice_Site_p.E438_splice|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Splice_Site_p.E95_splice	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	438										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						ATCTCCTTAGGAGACGAACAA	0.483000														17			5		0	0	0.00307968	0	0
KIAA0564	23078	broad.mit.edu	37	13	42142384	42142384	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:42142384G>A	uc001uyj.3	-	44	5737	c.5667C>T	c.(5665-5667)atC>atT	p.I1889I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1889	VWFA.					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)		AAATCTGAGGGATATCCTTGG	0.468000														75			11		0	0	0.000673444	0	0
ALPK2	115701	broad.mit.edu	37	18	56184319	56184319	+	Missense_Mutation	SNP	C	T	T	rs151328897		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:56184319C>T	uc002lhj.4	-	8	5975	c.5761G>A	c.(5761-5763)Gag>Aag	p.E1921K		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1921	Alpha-type protein kinase.						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						TGCAGCTCCTCCGTGGCGATC	0.547000														60			6		0	0	0.00116845	0	0
SLC12A7	10723	broad.mit.edu	37	5	1060544	1060544	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:1060544A>T	uc003jbu.3	-	20	2828	c.2762T>A	c.(2761-2763)tTc>tAc	p.F921Y		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	921					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTCGTAGGTGAAAGCAGATAT	0.552000														58			7		0	0	0.00307968	0	0
POLE	5426	broad.mit.edu	37	12	133233953	133233953	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:133233953G>A	uc001uks.1	-	27	3485	c.3441C>T	c.(3439-3441)atC>atT	p.I1147I	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.I1120I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1147					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)		GGGCCGCAGGGATGGTGATGA	0.577000								DNA polymerases (catalytic subunits)						50			7		0	0	0.00307968	0	0
EBF2	64641	broad.mit.edu	37	8	25708162	25708162	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:25708162G>A	uc003xes.2	-	14	1909	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	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.	548					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)		GGGAGCCTTGGGGCCTGATGA	0.522000														96			11		0	0	0.000978159	0	0
CDH4	1002	broad.mit.edu	37	20	60485526	60485526	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:60485526C>T	uc002ybn.2	+	8	1325	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	CDH4_uc002ybr.2_Missense_Mutation_p.L376F|CDH4_uc002ybp.2_Missense_Mutation_p.L339F	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	413	Cadherin 3.				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)			GGTCGCAAACCTCACGGTGAT	0.542000														31			4		0	0	0.00024832	0	0
OR56A3	390083	broad.mit.edu	37	11	5968762	5968762	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:5968762C>T	uc010qzt.2	+	0	186	c.186C>T	c.(184-186)ccC>ccT	p.P62P		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q61L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCACCAGCCCCTGTACTACC	0.612000														82			13		0	0	0.00136819	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231208	42231208	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:42231208G>A	uc002orl.3	+	8	2202	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E	CEACAM5_uc002orj.1_Missense_Mutation_p.G693E	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	694						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ATCATGATTGGAGTGCTGGTT	0.478000														308			45		0	0	0.00361006	0	0
SCN2A	6326	broad.mit.edu	37	2	166234156	166234156	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:166234156G>A	uc002udc.3	+	22	4594	c.4304G>A	c.(4303-4305)cGa>cAa	p.R1435Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1435Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1435Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1435					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTGATTCACGAAATGTAAGT	0.269000														68			7		0	0	0.000274275	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22306590	22306590	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:22306590C>T	uc003svg.3	-	6	643	c.330G>A	c.(328-330)agG>agA	p.R110R		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TACCAGACTTCCTTGCTTTCA	0.393000														62			13		0	0	0.00185496	0	0
CELF3	11189	broad.mit.edu	37	1	151677575	151677575	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:151677575C>T	uc001eys.2	-	11	2134	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	CELF3_uc010pdh.2_Missense_Mutation_p.G233D|CELF3_uc021oyt.1_Missense_Mutation_p.G400D|CELF3_uc009wmy.3_Missense_Mutation_p.G397D|CELF3_uc001eyr.3_Missense_Mutation_p.G446D|CELF3_uc009wmx.2_Missense_Mutation_p.G446D	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	447	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	p.G447D(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GCGCTTCATGCCGATCTGGAA	0.642000														45			8		0	0	0.00307968	0	0
SCN11A	11280	broad.mit.edu	37	3	38924850	38924850	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:38924850G>C	uc021wvy.1	-	17	3292	c.3093C>G	c.(3091-3093)agC>agG	p.S1031R	SCN11A_uc010hhn.1_Missense_Mutation_p.S109R	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1031					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTGTCCACGCTACAGCATG	0.433000														63			7		0	0	0.00307968	0	0
CAMK1	8536	broad.mit.edu	37	3	9799255	9799255	+	Missense_Mutation	SNP	C	T	T	rs56033923	by1000genomes	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:9799255C>T	uc003bst.3	-	11	1266	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Silent_p.Q170Q	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	361			E -> K (in dbSNP:rs56033923).		cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGGGACAGTTCTGTGCCCGGC	0.682000														33			8		0	0	0.000442599	0	0
ST18	9705	broad.mit.edu	37	8	53092745	53092745	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:53092745C>T	uc003xqz.2	-	3	370	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E37K|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.E72K|ST18_uc003xrb.2_Missense_Mutation_p.E72K|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	72						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)				CTGCGGTCTTCTTGGCAGTCT	0.532000														150			18		0	0	0.000958276	0	0
UNC13C	440279	broad.mit.edu	37	15	54305845	54305845	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:54305845G>A	uc021smr.1	+	0	745	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	UNC13C_uc021sms.1_Missense_Mutation_p.E249K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	249					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)		GATCTTTAAGGAACTTCAGGG	0.468000														51			14		0	0	0.00244969	0	0
CHD5	26038	broad.mit.edu	37	1	6172219	6172219	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:6172219G>A	uc001amb.2	-	34	5232	c.5121C>T	c.(5119-5121)atC>atT	p.I1707I	CHD5_uc001alz.2_Silent_p.I564I|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1707					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)		CCCCGTCCGCGATGTTGAACA	0.517000														32			7		0	0	0.00198382	0	0
ZNF238	10472	broad.mit.edu	37	1	244217908	244217908	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:244217908C>T	uc001iad.4	+	1	1005	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	ZNF238_uc001iae.3_Silent_p.L269L|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	269					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GAGAAGCAACCTGGTGCAGGT	0.468000														50			7		0	0	0.000442599	0	0
TMEM43	79188	broad.mit.edu	37	3	14176677	14176677	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:14176677C>T	uc003byk.2	+	8	979	c.725C>T	c.(724-726)tCc>tTc	p.S242F	TMEM43_uc003byl.1_Missense_Mutation_p.S122F	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	242						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TTGCGTGTCTCCTTTTCCTAT	0.627000														19			4		0	0	0.000602214	0	0
MYO3A	53904	broad.mit.edu	37	10	26310516	26310516	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:26310516G>T	uc001isn.2	+	7	1030	c.670G>T	c.(670-672)Ggt>Tgt	p.G224C	MYO3A_uc009xko.1_Missense_Mutation_p.G224C|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G224C|MYO3A_uc001ism.2_Missense_Mutation_p.G224C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	224	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATTGAGCTGGGTGATGGAGA	0.488000														82			7		0.00198382	0.00601758	0.00198382	1	0
HHLA2	11148	broad.mit.edu	37	3	108070690	108070690	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:108070690C>T	uc003dwz.3	+	2	444	c.30C>T	c.(28-30)ttC>ttT	p.F10F	HHLA2_uc011bhl.2_Missense_Mutation_p.P34S|HHLA2_uc010hpu.3_Silent_p.F10F|HHLA2_uc003dwy.4_Silent_p.F10F	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	10						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGTCTTTCTTCCTCATTCTCA	0.358000														41			7		0	0	0.000274275	0	0
PSG3	5671	broad.mit.edu	37	19	43233378	43233378	+	Silent	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:43233378A>G	uc002oue.3	-	4	1272	c.1140T>C	c.(1138-1140)ttT>ttC	p.F380F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.F380F	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	380	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCTGGGGGATAAAGAGCTTTT	0.458000														179			20		0	0	0.00188189	0	0
CCDC3	83643	broad.mit.edu	37	10	12940532	12940532	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:12940532T>G	uc001ilq.1	-	2	831	c.697A>C	c.(697-699)Aag>Cag	p.K233Q	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.	233						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)			CGGCCCTTCTTACGCGCCTGC	0.667000														49			5		0	0	0.000602214	0	0
OR2A2	442361	broad.mit.edu	37	7	143807353	143807353	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:143807353G>A	uc011ktz.2	+	0	678	c.678G>A	c.(676-678)aaG>aaA	p.K226K		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	226					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)					CCATCCTGAAGATCCAGACAA	0.507000														83			11		0	0	0.000673444	0	0
HMGB2	3148	broad.mit.edu	37	4	174253977	174253977	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:174253977C>T	uc011ckc.1	-	2	586	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	HMGB2_uc003ita.3_Missense_Mutation_p.E156K|HMGB2_uc003itb.2_Missense_Mutation_p.E156K	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	156					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGTACCTTTTCATATTTCTCC	0.363000														173			11		0	0	0.000978159	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44360079	44360080	+	Silent	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:44360079_44360080CC>TT	uc001ckb.3	+	6	711_712	c.534_535CC>TT	c.(532-537)ttcctg>ttTTtg	p.178_179FL>FL	ST3GAL3_uc009vwu.1_Non-coding_Transcript|ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Silent_p.124_125FL>FL|ST3GAL3_uc001cka.3_Silent_p.93_94FL>FL|ST3GAL3_uc001ckc.3_Silent_p.109_110FL>FL|ST3GAL3_uc001ckd.3_Silent_p.163_164FL>FL|ST3GAL3_uc001cke.3_Silent_p.93_94FL>FL|ST3GAL3_uc001ckf.3_Silent_p.147_148FL>FL|ST3GAL3_uc001ckg.3_Silent_p.109_110FL>FL|ST3GAL3_uc001ckh.3_Silent_p.124_125FL>FL|ST3GAL3_uc001cki.3_Silent_p.109_110FL>FL|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_5'UTR|ST3GAL3_uc001ckm.3_Silent_p.108_109FL>FL|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Silent_p.93_94FL>FL|ST3GAL3_uc001ckp.3_Silent_p.108_109FL>FL|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Silent_p.93_94FL>FL|ST3GAL3_uc001ckr.3_Silent_p.62_63FL>FL|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Silent_p.109_110FL>FL|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Silent_p.78_79FL>FL|ST3GAL3_uc009vwy.3_Silent_p.15_16FL>FL|ST3GAL3_uc001ckl.3_Silent_p.109_110FL>FL	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	109					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CACCCATGTTCCTGGATGACTC	0.505000														175			24		0	0	6.4e-05	0	0
ZNF323	64288	broad.mit.edu	37	6	28294165	28294165	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:28294165G>A	uc003nlc.3	-	3	1388	c.999C>T	c.(997-999)ctC>ctT	p.L333L	ZNF323_uc003nld.3_Silent_p.L333L|ZNF323_uc010jra.3_Silent_p.L333L|ZNF323_uc003nla.3_Silent_p.L333L|ZNF323_uc003nlb.3_Silent_p.L174L|ZNF323_uc010jrb.3_Silent_p.L174L|ZNF323_uc021yrs.1_Silent_p.L333L|ZNF323_uc021yrt.1_Silent_p.L174L	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						ATGAGCTGAGGAGGAAAGCCT	0.502000														184			20		0	0	0.00229938	0	0
BRPF3	27154	broad.mit.edu	37	6	36168987	36168987	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:36168987C>T	uc003olv.4	+	1	1112	c.888C>T	c.(886-888)atC>atT	p.I296I	BRPF3_uc010jwb.3_Silent_p.I296I|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.I296I	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	296					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						CCATCTGGATCCCTGAAGTCT	0.547000														61			8		0	0	0.000673444	0	0
ZNF532	55205	broad.mit.edu	37	18	56586307	56586307	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:56586307C>T	uc010xeg.2	+	2	985	c.788C>T	c.(787-789)tCg>tTg	p.S263L	ZNF532_uc002lhp.3_Missense_Mutation_p.S261L|ZNF532_uc002lho.3_Missense_Mutation_p.S263L|ZNF532_uc002lhr.3_Missense_Mutation_p.S261L|ZNF532_uc002lhs.3_Missense_Mutation_p.S261L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGACAAAGTCGTCCTCCAAG	0.557000														44			8		0	0	0.000274275	0	0
UBASH3A	53347	broad.mit.edu	37	21	43857599	43857599	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr21:43857599G>A	uc002zbe.3	+	11	1478	c.1394_splice	c.e11-1	p.G465_splice	UBASH3A_uc002zbf.3_Splice_Site_p.G427_splice|UBASH3A_uc010gpe.3_Splice_Site_p.G427_splice|UBASH3A_uc010gpc.3_Splice_Site|UBASH3A_uc010gpd.3_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	465	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATTTTCCAGGGGACGCGCTAC	0.537000														44			9		0	0	0.000442599	0	0
HERC5	51191	broad.mit.edu	37	4	89415451	89415451	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:89415451G>A	uc003hrt.3	+	17	2566	c.2413G>A	c.(2413-2415)Gac>Aac	p.D805N	HERC5_uc011cdm.2_Missense_Mutation_p.D443N	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	805	HECT.				ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATCATTGGAAGACTTGAAAGA	0.393000														37			5		0	0	0.000602214	0	0
COL4A4	1286	broad.mit.edu	37	2	227967551	227967551	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:227967551A>G	uc021vxr.1	-	13	985	c.884T>C	c.(883-885)aTt>aCt	p.I295T	COL4A4_uc021vxs.1_Missense_Mutation_p.I295T	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	295	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)		TTTTGCCCCAATACCAGATTC	0.383000														143			19		0	0	0.00278032	0	0
BRWD3	254065	broad.mit.edu	37	X	79999689	79999689	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:79999689G>A	uc004edt.3	-	7	918	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	BRWD3_uc004edp.3_Missense_Mutation_p.R48C|BRWD3_uc004edq.3_5'UTR|BRWD3_uc010nmj.2_5'UTR|BRWD3_uc004edr.3_5'UTR|BRWD3_uc004eds.3_5'UTR|BRWD3_uc004edo.3_5'UTR|BRWD3_uc004edu.3_5'UTR|BRWD3_uc004edv.3_5'UTR|BRWD3_uc004edw.3_5'UTR|BRWD3_uc004edx.3_5'UTR|BRWD3_uc004edy.3_5'UTR|BRWD3_uc004edz.3_5'UTR|BRWD3_uc004eea.3_5'UTR|BRWD3_uc004eeb.3_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	219								p.R219C(2)|p.L218F(1)		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						GAGTGTCCACGAAGTGTAGCA	0.403000														36			11		0	0	0.00185496	0	0
DNAH9	1770	broad.mit.edu	37	17	11660968	11660968	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:11660968C>T	uc002gne.3	+	34	7022	c.6954C>T	c.(6952-6954)ttC>ttT	p.F2318F	DNAH9_uc010coo.3_Silent_p.F1612F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2318	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATTTTGTTCGACAAGTATC	0.473000														42			11		0	0	0.00244969	0	0
ATP10D	57205	broad.mit.edu	37	4	47525090	47525090	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:47525090C>T	uc003gxk.1	+	3	711	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ATP10D_uc003gxj.3_Missense_Mutation_p.L183F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	183					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						CTTTATTCGCCTCTCCTGCAA	0.393000														66			11		0	0	0.00136819	0	0
FER1L6	654463	broad.mit.edu	37	8	125082714	125082714	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:125082714G>A	uc003yqw.3	+	29	4047	c.3841G>A	c.(3841-3843)Gac>Aac	p.D1281N	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1281						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)			AAAGATATATGACGGTGATCT	0.418000														111			10		0	0	0.00185496	0	0
KIAA1841	84542	broad.mit.edu	37	2	61361297	61361297	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:61361297G>A	uc002say.3	+	20	2431	c.2054G>A	c.(2053-2055)gGc>gAc	p.G685D		NM_032506	NP_115895	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 2, mRNA.	0								p.D684D(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			cccagagacggcactgtgtct	0.403000														39			9		0	0	0.000442599	0	0
ANKS1A	23294	broad.mit.edu	37	6	35046409	35046409	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:35046409C>T	uc003ojx.4	+	13	2401	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	ANKS1A_uc011dst.2_Silent_p.L293L|ANKS1A_uc010jvp.2_Silent_p.L127L	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	753	SAM 1.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGAAGCTGCTCCAGGCGGCAC	0.647000														65			7		0	0	0.000442599	0	0
WIF1	11197	broad.mit.edu	37	12	65514233	65514233	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:65514233G>A	uc001ssk.3	-	1	627	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	84	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCATGGAATGGATATTGACAG	0.403000			T	HMGA2	pleomorphic salivary gland adenoma									109			15		0	0	0.00244969	0	0
EFCAB3	146779	broad.mit.edu	37	17	60472490	60472490	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:60472490C>T	uc010wpc.2	+	7	656	c.585C>T	c.(583-585)atC>atT	p.I195I	EFCAB3_uc002izu.2_Silent_p.I143I	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	143							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGTTTGAAATCCTATCAAGGC	0.388000														119			21		0	0	0.000720815	0	0
CD163L1	283316	broad.mit.edu	37	12	7585054	7585054	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:7585054G>A	uc010sge.2	-	3	780	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	CD163L1_uc001qsy.3_Missense_Mutation_p.H242Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	242	SRCR 2.					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						CTGCAGTCATGATTTCCCCAT	0.423000														52			10		0	0	0.000673444	0	0
ATG2A	23130	broad.mit.edu	37	11	64668062	64668062	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:64668062G>A	uc001obx.3	-	30	4483	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	ATG2A_uc001obw.3_Silent_p.S221S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1456							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGAGCAGCGGGAAGGGGAGC	0.662000														42			4		0	0	0.00024832	0	0
SCAF11	9169	broad.mit.edu	37	12	46320763	46320763	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:46320763G>A	uc001rox.3	-	10	3008	c.2721C>T	c.(2719-2721)tcC>tcT	p.S907S	SCAF11_uc001row.3_Silent_p.S592S|SCAF11_uc001roy.1_Silent_p.S981S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	907	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTGGGACCTGGATTTTTCTC	0.453000														99			7		0	0	0.000274275	0	0
OR5H2	79310	broad.mit.edu	37	3	98002486	98002486	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:98002486C>T	uc003dsj.1	+	0	755	c.755C>T	c.(754-756)tCt>tTt	p.S252F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCTCTTATCTGTCTCTTTA	0.393000														46			8		0	0	0.000442599	0	0
TAGAP	117289	broad.mit.edu	37	6	159457774	159457774	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:159457774G>A	uc003qrz.3	-	9	1613	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	TAGAP_uc011eft.2_Silent_p.F364F|TAGAP_uc003qsa.3_Silent_p.F249F	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	427					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)		GCACTGCAGGGAAGACCTCCT	0.572000														59			12		0	0	0.00136819	0	0
C2orf16	84226	broad.mit.edu	37	2	27800558	27800558	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:27800558G>A	uc002rkz.4	+	0	1170	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	373								p.E373D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGCAGGTAGAGAAAACTTTGC	0.463000														43			8		0	0	0.000274275	0	0
STRC	161497	broad.mit.edu	37	15	43893725	43893725	+	Missense_Mutation	SNP	G	A	A	rs147990592		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:43893725G>A	uc001zsf.3	-	23	4648	c.4570C>T	c.(4570-4572)Cgt>Tgt	p.R1524C	STRC_uc010bdl.3_Missense_Mutation_p.R751C|STRC_uc001zse.3_Missense_Mutation_p.R42C	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1524					sensory perception of sound	cell surface		p.R1524G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCTCAGGACGAAATCCCCGG	0.532000														26			7		0	0	0.000274275	0	0
RP1	6101	broad.mit.edu	37	8	55540655	55540655	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:55540655G>A	uc003xsd.1	+	3	4361	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1405					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)			TTGCCTAAGTGAAAAAGAAGC	0.318000														51			12		0	0	0.00136819	0	0
VSIG10	54621	broad.mit.edu	37	12	118517355	118517355	+	Silent	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:118517355A>G	uc001tws.3	-	3	1055	c.721T>C	c.(721-723)Ttg>Ctg	p.L241L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	241	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTAAGCTGCAACATGAACGAT	0.552000														65			14		0	0	0.00316338	0	0
ASXL1	171023	broad.mit.edu	37	20	31022685	31022685	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:31022685C>T	uc021wbw.1	+	12	2602	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	ASXL1_uc002wxs.3_Silent_p.L723L|ASXL1_uc010geb.3_Silent_p.L615L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	724					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCTGCCTTCTCTGAGAAAGGA	0.562000			"""F, N, Mis"""		"""MDS, CMML"""									26			4		0	0	0.000602214	0	0
PTPN21	11099	broad.mit.edu	37	14	88962767	88962767	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:88962767G>A	uc001xwv.4	-	9	1253	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	PTPN21_uc010twc.2_Nonsense_Mutation_p.Q104*|PTPN21_uc010atf.1_Nonsense_Mutation_p.Q308*	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	308	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGTTACACTGGTTTAGTCTG	0.333000														68			10		0	0	0.000673444	0	0
MFSD5	84975	broad.mit.edu	37	12	53647900	53647900	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:53647900C>T	uc001sch.2	+	1	1749	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	MFSD5_uc001sci.2_Silent_p.F427F|MFSD5_uc021qye.1_Silent_p.F427F	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	427					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGGACTCTTCACCGTGGTAA	0.542000														56			9		0	0	0.000442599	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152396	50152396	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:50152396G>A	uc001zxu.3	-	27	3716	c.3574C>T	c.(3574-3576)Ctg>Ttg	p.L1192L	ATP8B4_uc010ber.3_Silent_p.L1065L|ATP8B4_uc010ufd.2_Silent_p.L1002L|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Silent_p.L195L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1192					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)		TTGACTCACAGTTTCACTGTT	0.403000														115			23		0	0	0.000878237	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	171433	171434	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:171433_171434GG>AA	uc003jak.2	+	13	2906_2907	c.2856_2857GG>AA	c.(2854-2859)aaggag>aaAAag	p.E953K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	953	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ACCTGCTCAAGGAGGCCAGCTG	0.673000														25			5		0	0	6.4e-05	0	0
TRIM55	84675	broad.mit.edu	37	8	67066485	67066485	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:67066485G>A	uc003xvv.3	+	8	1666	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	TRIM55_uc003xvu.3_Silent_p.R480R|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	480						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.R480W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CGAATGTACGGAAGGCAGAAG	0.572000														36			5		0	0	0.00307968	0	0
SCN9A	6335	broad.mit.edu	37	2	167140996	167140996	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:167140996C>T	uc010fpl.3	-	12	2282	c.1941_splice	c.e12+1	p.E647_splice	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.E518E|SCN9A_uc002uds.1_Silent_p.E518E|SCN9A_uc002udt.1_Splice_Site_p.E518_splice	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	647						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)	CTATTATCACCTCTGGCAGAA	0.527000														17			4		0	0	0.00024832	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974902	32974902	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:32974902C>T	uc003ocr.3	-	3	780	c.704G>A	c.(703-705)gGc>gAc	p.G235D	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	235					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	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGACGGTGCCCACGAGGAA	0.627000														68			8		0	0	0.000274275	0	0
IDH1	3417	broad.mit.edu	37	2	209116179	209116179	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:209116179G>A	uc002vcs.3	-	2	343	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	IDH1_uc002vct.3_Missense_Mutation_p.P33S|IDH1_uc002vcu.3_Missense_Mutation_p.P33S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	33					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.P33S(2)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TCCACGTAGGGAAAAATGAGT	0.423000			Mis		gliobastoma									61			9		0	0	0.000274275	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347082	95347082	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:95347082C>T	uc010qnt.2	+	3	906	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	O3FAR1_uc010qnu.2_Missense_Mutation_p.L268F	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	284					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CACCCTCTTCCTCCTCATGGT	0.567000														94			14		0	0	0.00185496	0	0
ECE1	1889	broad.mit.edu	37	1	21551766	21551766	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:21551766C>T	uc001bek.2	-	16	2092	c.2017G>A	c.(2017-2019)Ggg>Agg	p.G673R	ECE1_uc001bem.2_Missense_Mutation_p.G657R|ECE1_uc001bej.2_Missense_Mutation_p.G661R|ECE1_uc001bei.2_Missense_Mutation_p.G670R|ECE1_uc010odl.1_Missense_Mutation_p.G673R	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	673					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TTGAGACCCCCGTTGTCGGCG	0.647000														49			5		0	0	0.00116845	0	0
UBAC2	337867	broad.mit.edu	37	13	100020040	100020041	+	Splice_Site	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:100020040_100020041GG>AA	uc010tiu.2	+	8	1209	c.874_splice	c.e8-1	p.G292_splice	UBAC2_uc001voa.4_Splice_Site_p.G270_splice|UBAC2_uc001vob.4_Splice_Site_p.G243_splice|UBAC2_uc010tiv.2_Splice_Site|UBAC2_uc001vod.3_Splice_Site_p.G157_splice|UBAC2_uc001voc.3_Splice_Site_p.G235_splice|UBAC2_uc010tiw.2_Splice_Site|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_Splice_Site_p.G74_splice	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	270						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCTTTTTAGGGAGGAATGAT	0.460000														73			9		0	0	6.4e-05	0	0
CHST4	10164	broad.mit.edu	37	16	71570929	71570929	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:71570929C>T	uc021tkt.1	+	0	349	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	CHST4_uc002fan.3_Missense_Mutation_p.P117S|CHST4_uc002fao.3_Missense_Mutation_p.P117S	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	117					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						GGAACCTGGTCCCCGGAGACA	0.592000														36			13		0	0	0.00244969	0	0
MOGAT3	346606	broad.mit.edu	37	7	100844110	100844110	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:100844110G>A	uc003uyc.3	-	0	193	c.26C>T	c.(25-27)cCc>cTc	p.P9L	MOGAT3_uc010lhr.3_Missense_Mutation_p.P9L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	9					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTGGTTGGGGGCTGCAGGGT	0.567000														21			7		0	0	0.000442599	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19187864	19187864	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:19187864A>G	uc001mpi.3	+	13	1511	c.1406A>G	c.(1405-1407)cAc>cGc	p.H469R	ZDHHC13_uc001mpj.3_Missense_Mutation_p.H339R	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	469					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GGCAACCATCACTATTACATA	0.313000														34			5		0	0	0.000602214	0	0
GLYATL1	92292	broad.mit.edu	37	11	58714518	58714518	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:58714518G>A	uc001nnh.2	+	3	199	c.149_splice	c.e3-1	p.E50_splice	GLYATL1_uc001nnf.3_Splice_Site|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Splice_Site|GLYATL1_uc001nnj.2_Splice_Site	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TATCTTTTCAGAGTTTCTTCT	0.388000														60			6		0	0	0.00198382	0	0
TRIM55	84675	broad.mit.edu	37	8	67066444	67066444	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:67066444G>A	uc003xvv.3	+	8	1625	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	TRIM55_uc003xvu.3_Missense_Mutation_p.G467R|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	467						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CGAAGGTCTGGGGCAAATAGG	0.562000														25			5		0	0	0.00116845	0	0
LY9	4063	broad.mit.edu	37	1	160783651	160783651	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:160783651C>T	uc001fwu.3	+	2	730	c.680C>T	c.(679-681)cCc>cTc	p.P227L	LY9_uc010pjs.1_Missense_Mutation_p.P227L|LY9_uc001fwv.3_Missense_Mutation_p.P227L|LY9_uc001fww.3_Missense_Mutation_p.P227L|LY9_uc001fwy.1_Missense_Mutation_p.P129L|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	227	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.P227P(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCCAGAACCCCGTCAGCCAG	0.547000														115			6		0	0	0.00307968	0	0
ROR1	4919	broad.mit.edu	37	1	64643408	64643408	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:64643408G>A	uc001dbj.2	+	8	2083	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	562	Protein kinase.		E -> D (in a breast cancer sample; somatic mutation).		transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.E562D(1)		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						GGATCTCCATGAGTTCCTCAT	0.488000														69			12		0	0	0.000978159	0	0
PCDH18	54510	broad.mit.edu	37	4	138452705	138452705	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:138452705C>T	uc003ihe.4	-	0	925	c.538G>A	c.(538-540)Gat>Aat	p.D180N	PCDH18_uc003ihf.4_Missense_Mutation_p.D173N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	180	Cadherin 2.				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)					TTAAAAAAATCATTGGCAGAG	0.483000														54			9		0	0	0.000274275	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415514	105415514	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:105415514C>T	uc010axc.1	-	6	6394	c.6274G>A	c.(6274-6276)Gac>Aac	p.D2092N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D1992N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2092						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)			CCCTTGATGTCCACCTGGGGG	0.617000														55			16		0	0	0.00400662	0	0
CD177	57126	broad.mit.edu	37	19	43858513	43858513	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:43858513C>T	uc002owi.3	+	2	390	c.348C>T	c.(346-348)tcC>tcT	p.S116S	CD177_uc021uvf.1_Silent_p.S116S|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	116					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCGTTAACTCCCTCCCGCTTT	0.672000														54			5		0	0	0.00116845	0	0
SULF2	55959	broad.mit.edu	37	20	46295078	46295078	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:46295078C>T	uc002xto.3	-	11	2061	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	SULF2_uc002xtr.3_Silent_p.K577K|SULF2_uc002xtq.3_Silent_p.K577K|SULF2_uc010zyd.2_5'Flank	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	577					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						CCCCACCATCCTTGTCATCTT	0.627000														59			8		0	0	0.00307968	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149026	142149026	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:142149026C>T	uc010lnw.1	-	1	327	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCTGAGAATCGATCAGGGAA	0.517000														64			9		0	0	0.000274275	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530455	109530455	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:109530455G>A	uc001tnx.2	-	1	530	c.137C>T	c.(136-138)cCa>cTa	p.P46L	ALKBH2_uc001tny.2_Missense_Mutation_p.P46L|ALKBH2_uc010sxj.1_Missense_Mutation_p.P46L|ALKBH2_uc009zvd.2_Missense_Mutation_p.P46L|ALKBH2_uc010sxk.1_Missense_Mutation_p.P46L	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	46					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TCCATTCCCTGGGGCCTCTCT	0.582000								Direct reversal of damage						114			20		0	0	0.00121646	0	0
OR5D16	390144	broad.mit.edu	37	11	55606700	55606700	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:55606700C>T	uc010rio.2	+	0	473	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S158F(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTCGCATGTTCCCTGACACTC	0.448000														47			7		0	0	0.00198382	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54925472	54925472	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:54925472C>T	uc003dhf.3	+	24	2289	c.2241C>T	c.(2239-2241)acC>acT	p.T747T	CACNA2D3_uc003dhg.1_Silent_p.T653T|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	747						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCAGCTCACCAATCAGTAAG	0.507000														29			11		0	0	0.000978159	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982503	7982503	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:7982503G>A	uc010sgh.2	-	3	507	c.486C>T	c.(484-486)ggC>ggT	p.G162G	SLC2A14_uc001qtk.3_Silent_p.G147G|SLC2A14_uc001qtl.3_Silent_p.G124G|SLC2A14_uc001qtm.3_Silent_p.G124G|SLC2A14_uc010sgg.2_Silent_p.G38G|SLC2A14_uc001qtn.3_Silent_p.G147G|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	147					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCAAGCGGCCCAGGATCA	0.532000														31			7		0	0	0.000442599	0	0
FAM92B	339145	broad.mit.edu	37	16	85141674	85141674	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:85141674G>A	uc021tma.1	-	2	443	c.287C>T	c.(286-288)cCc>cTc	p.P96L	FAM92B_uc021tlz.1_Missense_Mutation_p.P96L	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	96										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GAGCTTCAGGGGGTTGACCAC	0.642000														37			11		0	0	0.000978159	0	0
PTH2R	5746	broad.mit.edu	37	2	209292968	209292968	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:209292968C>T	uc010zjb.2	+	1	437	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	PTH2R_uc002vdb.3_Missense_Mutation_p.L40F	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	40						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)		GCAGATTGTCCTTGTGCTGAA	0.418000														46			7		0	0	0.000442599	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323701	44323701	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr21:44323701C>T	uc002zcm.3	+	2	645	c.579C>T	c.(577-579)tcC>tcT	p.S193S	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.	24					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)	CCTCTCATTCCTTTGAAAACA	0.517000														82			9		0	0	0.000442599	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127538	3127538	+	Missense_Mutation	SNP	G	A	A	rs114422732	by1000genomes	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:3127538G>A	uc021vzx.1	-	0	2179	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.R727W	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	727	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TAGCCAAGCCGAGCCAGCTGC	0.483000														70			17		0	0	0.00400662	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545066	60545066	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:60545066G>A	uc001vht.3	-	15	2098	c.1879C>T	c.(1879-1881)Cta>Tta	p.L627L	DIAPH3_uc001vhu.3_Silent_p.L364L|DIAPH3_uc001vhv.3_Silent_p.L205L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	627	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGATTGGTAGAGGAGGAGAA	0.458000														77			5		0	0	0.00116845	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961396	104961396	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:104961396G>A	uc004elz.1	+	6	1565	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	270	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			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						GCATTCTTCGGATTCAGTGGA	0.433000														55			15		0	0	0.00316338	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143107	18143107	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:18143107G>A	uc021wbb.1	+	5	1626	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	CSRP2BP_uc002wqk.3_Missense_Mutation_p.V269M|CSRP2BP_uc010zru.2_Missense_Mutation_p.V268M	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	397					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTCTGGGCCAGTGGTTGGGGT	0.532000														17			5		0	0	0.000602214	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798971	44798971	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:44798971C>T	uc003tlr.3	+	6	1028	c.905C>T	c.(904-906)tCc>tTc	p.S302F	ZMIZ2_uc003tlq.3_Missense_Mutation_p.S270F|ZMIZ2_uc003tls.3_Missense_Mutation_p.S302F|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	302	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGCCCCCTCCCCTTCCTAC	0.652000														38			8		0	0	0.000274275	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793650	65793650	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:65793650G>A	uc001ogt.3	-	0	339	c.201C>T	c.(199-201)caC>caT	p.H67H		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	67	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGGCTTGGTCGTGGAAGTCTT	0.607000														83			11		0	0	0.00136819	0	0
EYA2	2139	broad.mit.edu	37	20	45644851	45644851	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:45644851C>T	uc002xsm.3	+	4	704	c.330C>T	c.(328-330)tcC>tcT	p.S110S	EYA2_uc010ghp.3_Silent_p.S110S|EYA2_uc002xsq.3_Silent_p.S110S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	110					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGAACCATTCCCCTGGCCAGA	0.532000														117			14		0	0	0.00316338	0	0
ERCC3	2071	broad.mit.edu	37	2	128047347	128047347	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:128047347G>A	uc002toh.1	-	4	670	c.575C>T	c.(574-576)cCc>cTc	p.P192L	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Missense_Mutation_p.P128L|ERCC3_uc002tog.1_Missense_Mutation_p.P128L|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_3'UTR	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	192					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCGGATCACGGGGTCCTGGAG	0.532000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					81			19		0	0	0.00188189	0	0
RYR2	6262	broad.mit.edu	37	1	237936894	237936894	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:237936894C>T	uc001hyl.1	+	86	11841	c.11721C>T	c.(11719-11721)tcC>tcT	p.S3907S	RYR2_uc010pya.2_Silent_p.S322S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3907					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)			GGAATTTCTCCAAAGCTATCC	0.348000														49			4		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179599144	179599144	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:179599144G>A	uc021vsy.1	-	48	11900	c.11675C>T	c.(11674-11676)tCg>tTg	p.S3892L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S553L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4819							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)			ACTATTAAACGAAAAGATCTC	0.383000														176			41		0	0	0.0025221	0	0
CYB5R4	51167	broad.mit.edu	37	6	84627781	84627781	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:84627781C>T	uc003pkf.3	+	5	635	c.503C>T	c.(502-504)cCa>cTa	p.P168L		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	168	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	p.P168>?(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CCTAGTTATCCAAGGTATGCA	0.303000														82			9		0	0	0.000442599	0	0
ASB7	140460	broad.mit.edu	37	15	101169997	101169997	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:101169997C>T	uc002bwk.3	+	4	1336	c.567C>T	c.(565-567)atC>atT	p.I189I	ASB7_uc002bwj.3_Silent_p.I189I	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	189					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ACGCCGTGATCAAAAGCAATC	0.483000														32			5		0	0	0.00116845	0	0
PCLO	27445	broad.mit.edu	37	7	82390062	82390062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:82390062G>A	uc003uhx.2	-	23	15470	c.15181C>T	c.(15181-15183)Caa>Taa	p.Q5061*		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4984					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						ACCTTTTTTTGGGTAGAAATA	0.303000														23			4		0	0	0.00024832	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736900	12736900	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:12736900G>A	uc004cuz.2	+	15	4461	c.3955G>A	c.(3955-3957)Gaa>Aaa	p.E1319K	FRMPD4_uc011mij.2_Missense_Mutation_p.E1311K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1319					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						CAAGATTAAGGAAACCACAGG	0.453000														42			15		0	0	0.00316338	0	0
DRGX	644168	broad.mit.edu	37	10	50574314	50574314	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:50574314G>A	uc010qgq.2	-	5	654	c.654C>T	c.(652-654)gcC>gcT	p.A218A	DRGX_uc021pqd.1_Silent_p.A213A	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	218					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						AGTGCTCGCGGGCCTTCATGC	0.677000														73			8		0	0	0.000442599	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307945	46307945	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:46307945G>A	uc002pdm.3	-	2	1389	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	RSPH6A_uc002pdl.3_Silent_p.S142S	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	406						intracellular		p.S406F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCTTCCATACGGACTTAGGGA	0.647000														33			5		0	0	0.00116845	0	0
ALPP	250	broad.mit.edu	37	2	233245442	233245442	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:233245442C>T	uc002vsq.3	+	7	1140	c.975C>T	c.(973-975)ccC>ccT	p.P325P		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	325						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGAACCCCCGCGGCTTCT	0.647000														61			5		0	0	0.00307968	0	0
LUZP4	51213	broad.mit.edu	37	X	114540930	114540930	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:114540930G>A	uc004eqa.3	+	3	537	c.503G>A	c.(502-504)aGa>aAa	p.R168K	LUZP4_uc004eqb.3_Missense_Mutation_p.R86K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	168						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CACTTAGAGAGATCTCTTTCT	0.443000														43			16		0	0	0.00316338	0	0
PTPN13	5783	broad.mit.edu	37	4	87684145	87684145	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:87684145C>T	uc003hpz.3	+	23	4299	c.3819C>T	c.(3817-3819)acC>acT	p.T1273T	PTPN13_uc003hpy.3_Silent_p.T1273T|PTPN13_uc003hqa.3_Silent_p.T1254T|PTPN13_uc003hqb.3_Silent_p.T1082T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1273						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTGACCAAACCTGGCAGGAAT	0.478000														46			5		0	0	0.00116845	0	0
PTPRK	5796	broad.mit.edu	37	6	128561213	128561213	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:128561213C>T	uc003qbk.3	-	4	1027	c.660G>A	c.(658-660)ggG>ggA	p.G220G	PTPRK_uc010kfc.3_Silent_p.G220G|PTPRK_uc003qbj.3_Silent_p.G220G|PTPRK_uc011ebu.2_Silent_p.G220G|PTPRK_uc003qbl.1_Silent_p.G90G|PTPRK_uc011ebv.1_Silent_p.G220G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	220	Ig-like C2-type.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAGCATCTCTCCCTGTGGCAA	0.443000														58			6		0	0	0.00198382	0	0
KLKB1	3818	broad.mit.edu	37	4	187159439	187159439	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:187159439G>A	uc003iyy.3	+	5	589	c.518G>A	c.(517-519)gGa>gAa	p.G173E	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.G135E	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	173	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.P172P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TACAGTCCCGGAGGAACACCT	0.458000														51			6		0	0	0.00307968	0	0
PNPO	55163	broad.mit.edu	37	17	46022027	46022027	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:46022027G>A	uc002imo.3	+	2	462	c.309G>A	c.(307-309)ggG>ggA	p.G103G	PNPO_uc010wkz.2_Silent_p.G103G|PNPO_uc010wla.2_Silent_p.G8G|PNPO_uc010wlb.2_Silent_p.G103G	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	Homo sapiens pyridoxamine 5'-phosphate oxidase (PNPO), mRNA.	103					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	p.G103W(1)		endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	AGGGCTTCGGGAAAGATGGCT	0.502000														157			28		0	0	0.001512	0	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:96761854G>A	uc003htr.4	+	0	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483000														56			10		0	0	0.000673444	0	0
CEP128	145508	broad.mit.edu	37	14	81302605	81302605	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:81302605G>A	uc001xux.2	-	10	1172	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CEP128_uc010asz.2_Non-coding_Transcript|CEP128_uc001xuz.2_Missense_Mutation_p.S334F|CEP128_uc001xuy.1_Missense_Mutation_p.S192F	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	334						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTGTTGCTTGGAAATCTGAGA	0.403000														100			26		0	0	0.000878237	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	A	A	rs141686243		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:66963846G>A	uc003xvs.1	+	2	355	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(4)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000														72			10		0	0	0.000442599	0	0
GPR65	8477	broad.mit.edu	37	14	88477602	88477602	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:88477602C>T	uc021rxh.1	+	0	411	c.411C>T	c.(409-411)tcC>tcT	p.S137S	GPR65_uc001xvv.3_Silent_p.S137S	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	137					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TCAGCCTGTCCATCTGGATAT	0.408000														127			15		0	0	0.00400662	0	0
CD164L2	388611	broad.mit.edu	37	1	27709047	27709047	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:27709047C>T	uc001boc.3	-	1	275	c.199G>A	c.(199-201)Gac>Aac	p.D67N		NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN	Homo sapiens CD164 sialomucin-like 2 (CD164L2), mRNA.	67						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGCTCTGTCTCCCTCCACG	0.642000														32			8		0	0	0.000274275	0	0
ZNF831	128611	broad.mit.edu	37	20	57829603	57829603	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:57829603G>A	uc002yan.3	+	4	4839	c.4839G>A	c.(4837-4839)agG>agA	p.R1613R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1613						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGACGGTAGGAAACGTCAGG	0.493000														65			7		0	0	0.00198382	0	0
CENPJ	55835	broad.mit.edu	37	13	25484108	25484108	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:25484108C>T	uc001upt.4	-	3	938	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	229					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TATGTTTCTTCCTGGGTTGGG	0.473000														104			19		0	0	0.00121646	0	0
TDRD5	163589	broad.mit.edu	37	1	179620142	179620142	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:179620142C>T	uc010pnp.2	+	11	2459	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TDRD5_uc021pfm.1_Silent_p.F647F|TDRD5_uc001gnf.2_Silent_p.F647F|TDRD5_uc021pfn.1_Silent_p.F647F|TDRD5_uc001gnh.2_Silent_p.F202F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	647					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						ATGTCTATTTCCATCATGTCT	0.383000														103			13		0	0	0.00185496	0	0
LPPR2	64748	broad.mit.edu	37	19	11468409	11468409	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:11468409C>T	uc002mrf.2	+	2	436	c.60C>T	c.(58-60)ttC>ttT	p.F20F	LPPR2_uc002mre.2_Silent_p.F20F|LPPR2_uc010dxy.2_5'Flank|Prion_pknot_uc021uph.1_5'Flank	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	20						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						GCTTTGTCTTCGTGGAGGTGA	0.582000														16			4		0	0	0.00198382	0	0
GRIA4	2893	broad.mit.edu	37	11	105623907	105623907	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:105623907G>A	uc001pix.2	+	3	894	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	GRIA4_uc001piu.1_Missense_Mutation_p.E150K|GRIA4_uc001piw.2_Missense_Mutation_p.E150K|GRIA4_uc001piv.3_Missense_Mutation_p.E150K|GRIA4_uc009yxk.1_Missense_Mutation_p.E150K	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	150					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGATCACTACGAATGGAACTG	0.443000														69			21		0	0	0.00229938	0	0
STAT3	6774	broad.mit.edu	37	17	40467771	40467771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:40467771G>A	uc002hzl.1	-	23	2545	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S	STAT3_uc002hzk.1_3'UTR|STAT3_uc002hzm.1_Missense_Mutation_p.P768S|STAT3_uc010wgh.1_Missense_Mutation_p.P671S|STAT3_uc002hzn.1_Missense_Mutation_p.P769S|STAT3_uc021txs.1_5'Flank|AK092965_uc010cyf.1_3'UTR	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	769					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCTCACATGGGGGAGGTAGCG	0.557000									Hyperimmunoglobulin E Recurrent Infection Syndrome					56			8		0	0	0.000274275	0	0
TMEM71	137835	broad.mit.edu	37	8	133740055	133740055	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:133740055G>A	uc003ytn.3	-	5	837	c.608C>T	c.(607-609)tCg>tTg	p.S203L	TMEM71_uc003ytm.2_Missense_Mutation_p.S43L|TMEM71_uc003yto.3_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	222						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGAATGATCCGAACTATTCTC	0.438000														108			10		0	0	0.000442599	0	0
PROC	5624	broad.mit.edu	37	2	128186281	128186281	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:128186281C>A	uc002tol.3	+	8	1235	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	PROC_uc002tok.3_Missense_Mutation_p.S382Y|PROC_uc010yzi.2_Missense_Mutation_p.S438Y|PROC_uc010yzj.2_Missense_Mutation_p.S277Y|PROC_uc010yzk.2_Missense_Mutation_p.S437Y	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	382	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AACATGGTGTCTGAGAACATG	0.612000														98			17		3.41278e-10	1.04962e-09	0.000566183	1	0
SLC8A3	6547	broad.mit.edu	37	14	70635016	70635016	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:70635016C>T	uc001xly.3	-	1	878	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	SLC8A3_uc001xlw.3_Missense_Mutation_p.G42R|SLC8A3_uc001xlx.3_Missense_Mutation_p.G42R|SLC8A3_uc001xlz.3_Missense_Mutation_p.G42R|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	42					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGTTCTGCCCTGTGCTTGGC	0.562000														20			5		0	0	0.000602214	0	0
LCT	3938	broad.mit.edu	37	2	136566908	136566908	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:136566908C>T	uc002tuu.1	-	7	3020	c.3009G>A	c.(3007-3009)ctG>ctA	p.L1003L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1003	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCATTGATCAGCCTGTTGT	0.517000														44			5		0	0	0.000602214	0	0
EPO	2056	broad.mit.edu	37	7	100320727	100320727	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:100320727G>A	uc003uwi.3	+	4	734	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	EPO_uc011kkc.1_Missense_Mutation_p.G184R	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	185					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			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)	GCTGTACACAGGGGAGGCCTG	0.587000														59			6		0	0	0.00198382	0	0
ZNF382	84911	broad.mit.edu	37	19	37101568	37101568	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:37101568G>A	uc002oek.3	+	3	269	c.156G>A	c.(154-156)aaG>aaA	p.K52K	ZNF382_uc010efa.3_Silent_p.K3K|ZNF382_uc010efb.3_Silent_p.K51K|ZNF382_uc002oel.3_Silent_p.K52K	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	52	KRAB.|Mediates interaction with TRIM28 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACATGGCTAAGCCTGATATGA	0.378000														80			10		0	0	0.00136819	0	0
ZNF331	55422	broad.mit.edu	37	19	54080048	54080048	+	Silent	SNP	C	T	T	rs141196058		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:54080048C>T	uc002qbx.1	+	6	1668	c.234C>T	c.(232-234)tcC>tcT	p.S78S	ZNF331_uc002qby.1_Silent_p.S78S|ZNF331_uc002qbz.1_Silent_p.S78S|ZNF331_uc010eqr.1_Silent_p.S78S|ZNF331_uc002qca.1_Silent_p.S78S|ZNF331_uc021uzg.1_Silent_p.S78S|ZNF331_uc021uzh.1_Silent_p.S78S|ZNF331_uc002qcb.1_Silent_p.S78S|ZNF331_uc002qcc.1_Silent_p.S78S|ZNF331_uc002qcd.1_Silent_p.S78S	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S78S(2)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAGTAAATCCCTTGGCCGTA	0.393000			T	?	follicular thyroid adenoma									75			7		0	0	0.00198382	0	0
DNAH3	55567	broad.mit.edu	37	16	20975459	20975459	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:20975459G>A	uc010vbe.2	-	52	9747	c.9747C>T	c.(9745-9747)tcC>tcT	p.S3249S	DNAH3_uc010vbd.2_Silent_p.S684S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3249	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3249F(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)		TGTTACCCTTGGACATGGAGA	0.433000														133			25		0	0	0.00395357	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273351	145273351	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:145273351C>T	uc001emn.4	+	2	575	c.205C>T	c.(205-207)Cca>Tca	p.P69S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.P69S|NOTCH2NL_uc001emo.2_Missense_Mutation_p.P69S|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	69	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACATCTCATCCATGCTTTGT	0.552000														873			35		0	0	0.00128727	0	0
ADAM20	8748	broad.mit.edu	37	14	70990201	70990201	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:70990201G>A	uc021rvs.1	-	0	1424	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	ADAM20_uc001xme.3_Missense_Mutation_p.T475I	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	425	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTGCCGTATGGTTCCACAGTC	0.433000														120			22		0	0	0.00395357	0	0
FAT3	120114	broad.mit.edu	37	11	92592355	92592355	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:92592355G>A	uc001pdj.4	+	19	11542	c.11525G>A	c.(11524-11526)gGa>gAa	p.G3842E	FAT3_uc001pdi.4_Missense_Mutation_p.G282E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3842	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTTTGCTGGAAACAGTTAC	0.388000										TCGA Ovarian(4;0.039)				277			47		0	0	0.00361006	0	0
CER1	9350	broad.mit.edu	37	9	14720112	14720113	+	Missense_Mutation	DNP	GG	AA	AA	rs142384565		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:14720112_14720113GG>AA	uc003zlj.3	-	1	824_825	c.779_780CC>TT	c.(778-780)tcc>tTT	p.S260F		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	260					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTGGGATAAAGGAATCCTGGGA	0.465000														46			9		0	0	6.4e-05	0	0
ALMS1	7840	broad.mit.edu	37	2	73653612	73653612	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:73653612C>T	uc002sje.1	+	5	1380	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V	ALMS1_uc002sjf.1_Silent_p.V381V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	423					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						AGTCTGACGTCATTACTCTGG	0.403000														228			28		0	0	0.001512	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868501	22868501	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:22868501C>T	uc002zwe.3	-	1	1707	c.1454G>A	c.(1453-1455)gGg>gAg	p.G485E	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.G485E	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACGAGGGAACCCTTGCAGTTG	0.438000														73			14		0	0	0.00400662	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39976	39976	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrGL000218.1:39976G>A	uc011mfn.2	-	3	430	c.341C>T	c.(340-342)gCc>gTc	p.A114V	LOC100233156_uc003jah.2_Missense_Mutation_p.A114V					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GTCCTTGATGGCCTCCTTCAG	0.617000														17			4		0	0	0.00024832	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254516	61254516	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:61254516G>A	uc001nru.2	+	9	1063	c.931G>A	c.(931-933)Gag>Aag	p.E311K	PPP1R32_uc009ynq.2_Missense_Mutation_p.E291K	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	311																	GCTTGGCCGGGAGACTGTGGG	0.582000														105			17		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9083281	9083281	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:9083281G>A	uc002mkp.3	-	0	8738	c.8534C>T	c.(8533-8535)cCc>cTc	p.P2845L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2845	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						TATCCCTTTGGGTGCTGTTGA	0.507000														18			4		0	0	0.00024832	0	0
SULF1	23213	broad.mit.edu	37	8	70536203	70536203	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:70536203C>T	uc003xyg.2	+	13	2182	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	SULF1_uc010lza.1_Missense_Mutation_p.R541W|SULF1_uc003xyd.2_Missense_Mutation_p.R541W|SULF1_uc003xye.2_Missense_Mutation_p.R541W|SULF1_uc003xyf.2_Missense_Mutation_p.R541W|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	541					apoptosis|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	p.R541Q(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGTCCATACTCGGCAGACACG	0.413000														72			9		0	0	0.000673444	0	0
OR5H1	26341	broad.mit.edu	37	3	97851872	97851872	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:97851872G>A	uc011bgt.2	+	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTAACCACGGAATGTTTTCT	0.408000														163			16		0	0	0.00074312	0	0
FAM171B	165215	broad.mit.edu	37	2	187605078	187605078	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:187605078G>A	uc002ups.3	+	1	474	c.362G>A	c.(361-363)gGa>gAa	p.G121E	FAM171B_uc002upr.1_Missense_Mutation_p.G121E	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	121						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAAAGCAATGGAGCAGTGCTG	0.408000														61			6		0	0	0.00116845	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847107	40847107	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr21:40847107C>T	uc002yya.3	+	2	521	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SH3BGR_uc002yxz.3_Missense_Mutation_p.S45F	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	156					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ATTATTTATTCCTTCCTTGGT	0.373000														29			5		0	0	0.00116845	0	0
SPATA18	132671	broad.mit.edu	37	4	52945947	52945947	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:52945947C>T	uc003gzl.3	+	8	1495	c.1217C>T	c.(1216-1218)tCa>tTa	p.S406L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S374L|SPATA18_uc003gzk.1_Missense_Mutation_p.S406L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	406					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCCAAGATTTCATTCCCTCCT	0.438000														170			22		0	0	0.00332997	0	0
NACA2	342538	broad.mit.edu	37	17	59668329	59668330	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:59668329_59668330CC>TT	uc002izj.2	-	0	234_235	c.212_213GG>AA	c.(211-213)cgg>cAA	p.R71Q		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	71	NAC-A/B.				protein transport	cytoplasm|nucleus		p.R71R(2)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTTTCACTCCGACTCTGTTT	0.460000														172			23		0	0	6.4e-05	0	0
GRIK5	2901	broad.mit.edu	37	19	42546759	42546759	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:42546759C>T	uc002osj.1	-	10	1453	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	GRIK5_uc002osi.1_Missense_Mutation_p.G45E|GRIK5_uc010eib.1_Missense_Mutation_p.G392E	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	473						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCGGGCGCCCCGTACAGCCC	0.672000														49			4		0	0	0.00116845	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	T	T	rs144276666		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:29012269C>T	uc003nlw.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000														93			11		0	0	0.00136819	0	0
EAF2	55840	broad.mit.edu	37	3	121573544	121573544	+	Missense_Mutation	SNP	C	T	T	rs143406125		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:121573544C>T	uc003een.3	+	2	311	c.212C>T	c.(211-213)cCa>cTa	p.P71L	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	71	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GGTTCAACTCCACCAGTAACT	0.323000														55			6		0	0	0.00116845	0	0
HTR4	3360	broad.mit.edu	37	5	147889130	147889130	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:147889130G>A	uc021yfj.1	-	4	1012	c.965C>T	c.(964-966)gCc>gTc	p.A322V	HTR4_uc021yfg.1_Missense_Mutation_p.A322V|HTR4_uc021yfh.1_Missense_Mutation_p.A322V|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.A322V|HTR4_uc011dby.1_Missense_Mutation_p.A322V|HTR4_uc003lpn.3_Missense_Mutation_p.A322V|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.A322V	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	322					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GATGAGGAAGGCACGTCTAAA	0.502000														35			9		0	0	0.000274275	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215844	20215844	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:20215844C>T	uc010tkt.2	+	0	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGGGGATTTCCTACAGCAGG	0.458000														52			5		0	0	0.00116845	0	0
PNMT	5409	broad.mit.edu	37	17	37826222	37826222	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:37826222G>A	uc002hsi.1	+	2	651	c.429G>A	c.(427-429)aaG>aaA	p.K143K		NM_002686	NP_002677	P11086	PNMT_HUMAN	Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA.	143					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAGGATAAGGAGCGCCAGC	0.657000														46			4		0	0	0.000602214	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439446	42439446	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:42439446C>T	uc001zoz.3	-	12	1387	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Missense_Mutation_p.G64E|PLA2G4F_uc001zpa.3_Missense_Mutation_p.G183E|PLA2G4F_uc010bcr.3_Missense_Mutation_p.G183E|PLA2G4F_uc010bcs.3_Missense_Mutation_p.G219E	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	432	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGACAAAGCTCCCATCTTACT	0.627000														24			9		0	0	0.000673444	0	0
ZNF287	57336	broad.mit.edu	37	17	16469860	16469860	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:16469860C>T	uc021trd.1	-	2	1098	c.480G>A	c.(478-480)tgG>tgA	p.W160*	ZNF287_uc002gqi.2_Nonsense_Mutation_p.W160*	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	153					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)		AGTCATTTAGCCATCCTGTCT	0.443000														141			18		0	0	0.000958276	0	0
TTC7A	57217	broad.mit.edu	37	2	47287978	47287978	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:47287978C>T	uc010fbb.3	+	19	2663	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	TTC7A_uc002rvm.3_Silent_p.F707F|TTC7A_uc002rvo.3_Silent_p.F741F|TTC7A_uc010fbc.3_Silent_p.F387F|TTC7A_uc002rvp.3_Silent_p.F622F|TTC7A_uc002rvq.3_Silent_p.F481F|TTC7A_uc002rvr.3_Silent_p.F190F	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	741							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGGGCCTCTTCCCCACTTCTC	0.602000														59			13		0	0	0.00400662	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046428	69046428	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:69046428A>G	uc010fdg.3	+	8	1596	c.1177A>G	c.(1177-1179)Agg>Ggg	p.R393G	ARHGAP25_uc010yql.2_Missense_Mutation_p.R353G|ARHGAP25_uc002sev.3_Missense_Mutation_p.R386G|ARHGAP25_uc002sew.3_Missense_Mutation_p.R385G|ARHGAP25_uc002sex.3_Missense_Mutation_p.R386G	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	392					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCGAATTTCTAGGACAGACAG	0.537000														65			5		0	0	0.000602214	0	0
DLGAP3	58512	broad.mit.edu	37	1	35369961	35369961	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:35369961C>T	uc001byc.3	-	0	1024	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	342					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGGTATCCATCCCGGCCCTGG	0.622000														48			8		0	0	0.00307968	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466908	50466908	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:50466908G>A	uc001vdk.2	+	0	2364	c.2182G>A	c.(2182-2184)Gga>Aga	p.G728R						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AACCATGTTTGGAGCTTCTCC	0.517000														49			10		0	0	0.000978159	0	0
CPEB2	132864	broad.mit.edu	37	4	15009173	15009173	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:15009173G>A	uc003gnk.2	+	1	1907	c.1907G>A	c.(1906-1908)aGa>aAa	p.R636K	CPEB2_uc003gnl.2_Missense_Mutation_p.R636K|CPEB2_uc003gnm.2_Missense_Mutation_p.R636K|CPEB2_uc003gni.2_Missense_Mutation_p.R636K|CPEB2_uc003gnn.2_Missense_Mutation_p.R636K|CPEB2_uc003gnj.2_Missense_Mutation_p.R636K	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	199					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATGTGTTCAGAACAGACAAC	0.368000														49			7		0	0	0.00198382	0	0
COBL	23242	broad.mit.edu	37	7	51095552	51095552	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:51095552C>T	uc003tps.3	-	10	3597	c.3412G>A	c.(3412-3414)Gac>Aac	p.D1138N	COBL_uc003tpr.4_Missense_Mutation_p.D1081N|COBL_uc011kcl.2_Missense_Mutation_p.D1081N|COBL_uc003tpp.4_Missense_Mutation_p.D867N|COBL_uc003tpq.4_Missense_Mutation_p.D1022N|COBL_uc003tpo.4_Missense_Mutation_p.D623N	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1081										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CAAATACTGTCTGTTTCATTT	0.498000														90			11		0	0	0.00136819	0	0
SMPD2	6610	broad.mit.edu	37	6	109763198	109763198	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:109763198C>T	uc003pti.3	+	3	640	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	82					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		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;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GCAGTGGCCTCTGTGTCTTCT	0.517000														184			31		0	0	0.000953801	0	0
CCDC67	159989	broad.mit.edu	37	11	93088569	93088569	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:93088569T>C	uc001pdq.3	+	2	162	c.62T>C	c.(61-63)tTa>tCa	p.L21S	CCDC67_uc001pdo.1_Missense_Mutation_p.L21S|CCDC67_uc001pdp.3_Missense_Mutation_p.L21S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	21										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTTCAGGAATTAATGGAACAA	0.368000														75			16		0	0	0.00121646	0	0
UIMC1	51720	broad.mit.edu	37	5	176395770	176395770	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:176395770G>A	uc021yil.1	-	5	1153	c.986C>T	c.(985-987)cCt>cTt	p.P329L	UIMC1_uc021yim.1_Missense_Mutation_p.P329L|UIMC1_uc021yin.1_Missense_Mutation_p.P329L|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	329	AIR.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCAGAGAAGGAGGTCTAGG	0.448000														81			18		0	0	0.000566183	0	0
IGF2	3481	broad.mit.edu	37	11	2156739	2156739	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:2156739C>T	uc009yde.3	-	1	118	c.15G>A	c.(13-15)atG>atA	p.M5I	IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Missense_Mutation_p.M5I|IGF2_uc009ydf.3_Missense_Mutation_p.M61I|IGF2_uc021qcb.1_Missense_Mutation_p.M5I|IGF2_uc001lvh.3_Missense_Mutation_p.M5I|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	5					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCGACTTCCCCATTGGGATTC	0.637000														18			4		0	0	0.000602214	0	0
KCNH5	27133	broad.mit.edu	37	14	63174561	63174561	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:63174561C>T	uc001xfx.3	-	10	2683	c.2632G>A	c.(2632-2634)Gct>Act	p.A878T	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	878					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			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)		GCCTCCCCAGCCTTATCCAAA	0.502000														72			9		0	0	0.000442599	0	0
PRDM9	56979	broad.mit.edu	37	5	23524491	23524491	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:23524491C>T	uc003jgo.3	+	9	1181	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	333	SET.				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						TGGTGGCCTTCCAGTACCACA	0.537000										HNSCC(3;0.000094)				40			6		0	0	0.000274275	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508858	140508859	+	Silent	DNP	CC	TT	TT	rs113768660		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:140508858_140508859CC>TT	uc004cnp.2	+	5	800_801	c.726_727CC>TT	c.(724-729)atcctg>atTTtg	p.242_243IL>IL	ARRDC1_uc004cns.3_Silent_p.242_243IL>IL|ARRDC1_uc004cnx.2_Silent_p.117_118IL>IL			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	242								p.Q241R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		ACGAGCAGATCCTGGTGCCTGC	0.658000														68			10		0	0	6.4e-05	0	0
ZNF662	389114	broad.mit.edu	37	3	42956557	42956557	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:42956557C>T	uc003cmk.2	+	3	1256	c.1070C>T	c.(1069-1071)cCt>cTt	p.P357L	ZNF662_uc003cmi.2_Missense_Mutation_p.P331L|ZNF662_uc003cmj.2_Missense_Mutation_p.P223L	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGGGAGAAGCCTTACGAATGT	0.493000														39			5		0	0	0.00116845	0	0
C14orf39	317761	broad.mit.edu	37	14	60921826	60921826	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:60921826C>T	uc001xez.4	-	15	1506	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	C14orf39_uc010apo.3_Missense_Mutation_p.E177K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	466										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)		GATTCCTTTTCTGTTTGAACT	0.299000														67			5		0	0	0.00198382	0	0
KCNH2	3757	broad.mit.edu	37	7	150648860	150648860	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:150648860G>A	uc003wic.3	-	6	2022	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	KCNH2_uc003wib.3_Missense_Mutation_p.R201C|KCNH2_uc011kux.2_Missense_Mutation_p.R445C|KCNH2_uc003wid.3_Missense_Mutation_p.R201C|KCNH2_uc003wie.3_Missense_Mutation_p.R541C	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	541					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCTGAGTAGCGATCCAGCTTC	0.642000														23			4		0	0	0.00024832	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880155	30880155	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:30880155C>T	uc003nsa.1	+	10	1216	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank|VARS2_uc011dna.2_5'Flank|VARS2_uc011dnb.2_5'Flank|VARS2_uc011dnc.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	337			R -> Q (in dbSNP:rs3218820).		mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GATGCTCTATCGGTTCCCCAA	0.597000								Nucleotide excision repair (NER)						80			9		0	0	0.000978159	0	0
ATP8A2	51761	broad.mit.edu	37	13	26152961	26152961	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:26152961G>A	uc001uqk.3	+	20	1933	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	ATP8A2_uc010tdi.2_Silent_p.V557V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.V107V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	557					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGATAATGTGATTTTTGAGA	0.373000														32			5		0	0	0.00116845	0	0
BMP4	652	broad.mit.edu	37	14	54416795	54416795	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:54416795C>T	uc001xal.4	-	2	1369	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	BMP4_uc010aoh.3_Silent_p.L394L|BMP4_uc001xao.4_Silent_p.L394L|BMP4_uc001xan.4_Silent_p.L394L	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	394					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.V393V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GATAATTTTTCAGTACCACCT	0.473000														75			7		0	0	0.00307968	0	0
SCN11A	11280	broad.mit.edu	37	3	38936347	38936347	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:38936347G>A	uc021wvy.1	-	14	2711	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	838					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGGCGGAATCGATCCAGTGCT	0.453000														61			10		0	0	0.000442599	0	0
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:118074365G>A	uc001psk.2	-	5	724	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Missense_Mutation_p.R145C|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.R174C|AMICA1_uc010rxw.1_Missense_Mutation_p.R145C|AMICA1_uc010rxx.1_Missense_Mutation_p.R184C|AMICA1_uc001psl.1_Missense_Mutation_p.R140C	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	184	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R174G(1)|p.V183A(1)|p.R174C(1)		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)		TGGTAGTAACGAAATACAATC	0.502000														43			5		0	0	0.00116845	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296640	25296640	+	RNA	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:25296640C>T	uc001yxg.3	+	0		c.18C>T								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		ATGATGAGTCCCCTATAAAAA	0.473000														67			6		0	0	0.00307968	0	0
HYOU1	10525	broad.mit.edu	37	11	118922275	118922276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:118922275_118922276CC>TT	uc001puu.2	-	12	1593_1594	c.1400_1401GG>AA	c.(1399-1401)cgg>cAA	p.R467Q	HYOU1_uc001put.2_Missense_Mutation_p.R432Q|HYOU1_uc010ryu.1_Missense_Mutation_p.R487Q|HYOU1_uc010ryv.1_Missense_Mutation_p.R356Q|HYOU1_uc001pux.3_Missense_Mutation_p.R467Q|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Missense_Mutation_p.R467Q	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	467						endoplasmic reticulum lumen	ATP binding|protein binding	p.R467Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGAAGAGTACCCGTTTATTGTG	0.540000														44			7		0	0	6.4e-05	0	0
HAX1	10456	broad.mit.edu	37	1	154245824	154245824	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:154245824C>T	uc010peo.2	+	1	227	c.66C>T	c.(64-66)ccC>ccT	p.P22P	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_Silent_p.P22P|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	22	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	p.P22S(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAGAGATCCCTTTTTTGGAG	0.493000									Kostmann syndrome					74			13		0	0	0.00244969	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798623	55798623	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:55798623C>T	uc010riw.2	+	0	729	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTGTGCTTCCCACCTCATAG	0.448000														131			20		0	0	0.00152264	0	0
MYSM1	114803	broad.mit.edu	37	1	59139288	59139288	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:59139288C>T	uc009wab.2	-	10	1552	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	510					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACACCAGTTTCCCCATGGGTC	0.383000														50			6		0	0	0.00307968	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956692	88956692	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:88956692G>A	uc011khi.2	+	2	822	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	95						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAATTTGCTCGAAATGTAGCT	0.338000										HNSCC(36;0.09)				40			9		0	0	0.000274275	0	0
GRIK5	2901	broad.mit.edu	37	19	42558499	42558499	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:42558499C>T	uc002osj.1	-	7	1064	c.1029G>A	c.(1027-1029)ggG>ggA	p.G343G	GRIK5_uc010eib.1_Silent_p.G262G	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	343						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGAGGCTGGTCCCGTGGGGCC	0.652000														55			10		0	0	0.000673444	0	0
GRM8	2918	broad.mit.edu	37	7	126086239	126086239	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:126086239C>T	uc003vlr.2	-	8	2929	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G873E|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	873					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)	TCTGTCATTTCCTTTTTGGAT	0.438000										HNSCC(24;0.065)				120			21		0	0	0.00121646	0	0
RREB1	6239	broad.mit.edu	37	6	7248820	7248820	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:7248820C>T	uc003mxb.3	+	12	5340	c.4848C>T	c.(4846-4848)atC>atT	p.I1616I	RREB1_uc021yky.1_Silent_p.I1561I|RREB1_uc003mxc.3_Silent_p.I1561I|RREB1_uc010jnx.3_Silent_p.I1350I|RREB1_uc021ykz.1_Silent_p.I1295I|RREB1_uc021yla.1_3'UTR	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1561					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACCAGCGGATCCACCAGAAAG	0.557000														30			5		0	0	0.000602214	0	0
POLR2G	5436	broad.mit.edu	37	11	62532814	62532814	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:62532814C>T	uc001nva.3	+	4	446	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_002696	NP_002687	P62487	RPB7_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide G (POLR2G), mRNA.	112					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|RNA binding|protein binding			lung(3)	3						CCTTTCAGTCCATCCCTTCAG	0.463000														181			22		0	0	0.000878237	0	0
MED13	9969	broad.mit.edu	37	17	60060354	60060354	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:60060354G>A	uc002izo.3	-	15	3087	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1004					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGTGGATGGAGAAGGAAGA	0.507000														37			6		0	0	0.00307968	0	0
FAM220A	84792	broad.mit.edu	37	7	6370297	6370297	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:6370297T>A	uc003spu.3	-	1	957	c.489A>T	c.(487-489)gaA>gaT	p.E163D	FAM220A_uc021zzf.1_Missense_Mutation_p.E163D	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	163						nucleus											AACTTCCCATTTCCGGCACTT	0.607000														42			5		0	0	0.000602214	0	0
XKR6	286046	broad.mit.edu	37	8	10755821	10755821	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:10755821G>A	uc003wtk.1	-	2	1594	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	523						integral to membrane		p.L522F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACATCGGGGGGCAAAGGGATG	0.602000														29			7		0	0	0.00307968	0	0
OR1C1	26188	broad.mit.edu	37	1	247920941	247920941	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:247920941G>A	uc010pza.2	-	0	768	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A255A(1)|p.A255S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AATAGACGGCGATGGCTGTGC	0.522000														43			7		0	0	0.00198382	0	0
ZNF512B	57473	broad.mit.edu	37	20	62595261	62595261	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:62595261G>A	uc002yhl.1	-	8	1540	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCTTCAGGGCCACCTGTG	0.652000														36			7		0	0	0.00198382	0	0
PLG	5340	broad.mit.edu	37	6	161160173	161160173	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:161160173G>A	uc003qtm.4	+	15	2063	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	651	Peptidase S1.				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)	GCATGTTCAGGAAATAGAAGT	0.498000														77			12		0	0	0.000978159	0	0
NLRP13	126204	broad.mit.edu	37	19	56410191	56410191	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:56410191C>T	uc010ygg.2	-	9	2927	c.2902G>A	c.(2902-2904)Gga>Aga	p.G968R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	968							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)		AGCTTCACTCCATCATCCTGA	0.458000														77			9		0	0	0.000442599	0	0
ACR	49	broad.mit.edu	37	22	51178298	51178298	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:51178298C>T	uc003bnh.4	+	2	470	c.458C>T	c.(457-459)tCg>tTg	p.S153L	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.S153L	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	153	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCATTTCGTGTGGGCGC	0.547000														77			12		0	0	0.00136819	0	0
CDCP1	64866	broad.mit.edu	37	3	45135052	45135052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:45135052C>T	uc003com.3	-	5	1479	c.1344G>A	c.(1342-1344)tgG>tgA	p.W448*		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	448	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCAGCAGCTTCCAGGAGAAGT	0.597000														68			9		0	0	0.000442599	0	0
LIMCH1	22998	broad.mit.edu	37	4	41683077	41683077	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:41683077G>A	uc003gvz.4	+	25	4134	c.3717_splice	c.e25+1	p.M1239_splice	LIMCH1_uc003gwe.4_Splice_Site_p.M778_splice|LIMCH1_uc003gvu.4_Splice_Site_p.M855_splice|LIMCH1_uc003gvv.4_Splice_Site_p.M855_splice|LIMCH1_uc003gvw.4_Splice_Site_p.M854_splice|LIMCH1_uc003gvx.4_Splice_Site_p.M867_splice|LIMCH1_uc003gvy.4_Splice_Site_p.M683_splice|LIMCH1_uc003gwa.4_Splice_Site_p.M695_splice|LIMCH1_uc011byu.2_Splice_Site_p.M688_splice|LIMCH1_uc003gwc.4_Splice_Site_p.M700_splice|LIMCH1_uc003gwd.4_Splice_Site_p.M688_splice|LIMCH1_uc011byv.2_Splice_Site_p.M605_splice|LIMCH1_uc011byw.2_Splice_Site_p.M154_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	855					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						TGGGACAATGGTGAGACCACA	0.408000														103			8		0	0	0.000274275	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751639	33751639	+	Silent	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:33751639T>C	uc003jia.1	-	2	667	c.504A>G	c.(502-504)caA>caG	p.Q168Q	ADAMTS12_uc010iuq.1_Silent_p.Q168Q|ADAMTS12_uc003jib.1_Silent_p.Q168Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	168					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						CATGTGGTAGTTGGAAAAATC	0.383000										HNSCC(64;0.19)				88			8		0	0	0.00307968	0	0
DGKG	1608	broad.mit.edu	37	3	186006576	186006576	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:186006576G>A	uc003fqa.3	-	5	1004	c.467C>T	c.(466-468)tCc>tTc	p.S156F	DGKG_uc003fqb.3_Missense_Mutation_p.S156F|DGKG_uc003fqc.3_Missense_Mutation_p.S156F|DGKG_uc011brx.2_Missense_Mutation_p.S156F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	156	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TACCACTGGGGATTCCGAGCT	0.572000														197			18		0	0	0.00278032	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668540	94668540	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:94668540C>T	uc001dqj.4	-	9	1257	c.888G>A	c.(886-888)agG>agA	p.R296R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.R296R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	296					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			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)		TTTCATTTTTCCTTCCAAGTA	0.294000														88			8		0	0	0.000274275	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24470978	24470978	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:24470978C>T	uc010tcw.2	-	0	168	c.148G>A	c.(148-150)Ggt>Agt	p.G50S	C1QTNF9B_uc010tcv.1_Silent_p.R13R|C1QTNF9B_uc001uoz.1_Missense_Mutation_p.G50S|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.G50S	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	50	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCTTTGTCACCCTTCGCTCCG	0.532000														28			5		0	0	0.000274275	0	0
ALDH7A1	501	broad.mit.edu	37	5	125906538	125906538	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:125906538C>A	uc003ktx.3	-	7	901	c.709G>T	c.(709-711)Gtt>Ttt	p.V237F	ALDH7A1_uc011cxa.2_Missense_Mutation_p.V264F	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	237					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TCCTCCAGAACCTTGGCTATT	0.408000														147			18		1.00905e-13	3.11576e-13	0.00121646	1	0
SCN11A	11280	broad.mit.edu	37	3	38949515	38949515	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:38949515C>T	uc021wvy.1	-	9	1597	c.1398G>A	c.(1396-1398)agG>agA	p.R466R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	466					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAAGGACTTCCTTTTCTTAT	0.403000														80			12		0	0	0.000978159	0	0
C14orf135	64430	broad.mit.edu	37	14	60591538	60591538	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:60591538C>T	uc001xer.4	+	7	2469	c.1947C>T	c.(1945-1947)taC>taT	p.Y649Y	C14orf135_uc001xeq.2_Silent_p.Y649Y|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	883						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TATTAGGATACCCTGCTGTTG	0.413000														145			18		0	0	0.00074312	0	0
TRIM63	84676	broad.mit.edu	37	1	26384907	26384907	+	Missense_Mutation	SNP	C	T	T	rs61749355	byFrequency	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:26384907C>T	uc001bli.1	-	4	941	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	269	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCAGGCTCGTCCAGGGAC	0.552000														63			9		0	0	0.000274275	0	0
SCN10A	6336	broad.mit.edu	37	3	38770223	38770223	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:38770223C>T	uc003ciq.3	-	14	2450	c.2450G>A	c.(2449-2451)cGa>cAa	p.R817Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	817					sensory perception	voltage-gated sodium channel complex		p.R817*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATATTTTTTCGGTTGTTACG	0.537000														46			8		0	0	0.000274275	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049295	36049295	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:36049295G>A	uc003jjz.2	-	3	671	c.539C>T	c.(538-540)cCc>cTc	p.P180L	UGT3A2_uc011cos.2_Missense_Mutation_p.P146L|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	180						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAGACAAGGGGATTGGTAG	0.458000														34			9		0	0	0.000274275	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537552	28537552	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:28537552G>A	uc002hey.4	-	10	1974	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	477					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GGTGACCAGGGATCCAAAGAA	0.592000														47			8		0	0	0.00307968	0	0
DUSP23	54935	broad.mit.edu	37	1	159751976	159751976	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:159751976C>T	uc001ftz.1	+	2	328	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	DUSP23_uc001fua.1_Missense_Mutation_p.R101C|DUSP23_uc001fub.1_Missense_Mutation_p.R101C	NM_017823	NP_060293	Q9BVJ7	DUS23_HUMAN	Homo sapiens dual specificity phosphatase 23 (DUSP23), mRNA.	101	Tyrosine-protein phosphatase.					cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(1)	1	all_hematologic(112;0.0537)					GGGCTTTGGCCGCACTGGCAC	0.617000														45			5		0	0	0.00198382	0	0
SYTL4	94121	broad.mit.edu	37	X	99956480	99956480	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:99956480C>T	uc004egd.4	-	4	656	c.300G>A	c.(298-300)tgG>tgA	p.W100*	SYTL4_uc010nnc.3_Nonsense_Mutation_p.W100*|SYTL4_uc004ege.4_Nonsense_Mutation_p.W100*|SYTL4_uc004egf.4_Nonsense_Mutation_p.W100*|SYTL4_uc004egg.4_Nonsense_Mutation_p.W100*	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	100	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTTGCACCTCCAGGTACCAT	0.547000														32			13		0	0	0.00400662	0	0
TLR7	51284	broad.mit.edu	37	X	12906163	12906163	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:12906163T>C	uc004cvc.3	+	2	2675	c.2536T>C	c.(2536-2538)Tcc>Ccc	p.S846P		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	846					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|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-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTTCTCACTTTCCATATCTGT	0.443000														63			15		0	0	0.00400662	0	0
NCOA4	8031	broad.mit.edu	37	10	51585487	51585487	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:51585487C>T	uc001jis.4	+	7	1789	c.1586C>T	c.(1585-1587)aCt>aTt	p.T529I	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.T545I|NCOA4_uc010qhd.2_Missense_Mutation_p.T545I|NCOA4_uc010qhe.2_Missense_Mutation_p.T429I|NCOA4_uc010qhf.2_Missense_Mutation_p.T363I|NCOA4_uc001jit.3_Missense_Mutation_p.T529I|NCOA4_uc009xoo.3_Missense_Mutation_p.T529I	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	529					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCATGAATACTTCCTGGTGT	0.498000			T	RET	papillary thyroid									91			10		0	0	0.000442599	0	0
DENND3	22898	broad.mit.edu	37	8	142185557	142185557	+	Splice_Site	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:142185557A>G	uc003yvy.3	+	14	2573	c.2295_splice	c.e14+1	p.E765_splice	DENND3_uc010mep.3_Splice_Site_p.E726_splice|DENND3_uc003yvz.1_Missense_Mutation_p.E449G	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	765										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAATATAGAGGTAAGGACA	0.567000											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			7		0	0	0.00307968	0	0
NUP210L	91181	broad.mit.edu	37	1	153998161	153998161	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:153998161G>A	uc001fdw.3	-	29	4051	c.3979C>T	c.(3979-3981)Ctc>Ttc	p.L1327F	NUP210L_uc009woq.3_Missense_Mutation_p.L236F|NUP210L_uc010peh.2_Missense_Mutation_p.L1327F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1327						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AAACACTTGAGAACACGAGAA	0.468000														191			22		0	0	0.00229938	0	0
GHSR	2693	broad.mit.edu	37	3	172165933	172165933	+	Missense_Mutation	SNP	G	A	A	rs79053943	byFrequency	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:172165933G>A	uc003fib.2	-	0	314	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	GHSR_uc011bpv.2_Missense_Mutation_p.L91F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	91					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.L90L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGGAAGATGAGCAGATCGGAG	0.607000														31			5		0	0	0.00198382	0	0
BRAF	673	broad.mit.edu	37	7	140453135	140453136	+	Missense_Mutation	DNP	CA	TT	TT	rs121913377		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:140453135_140453136CA>TT	uc003vwc.4	-	14	1860_1861	c.1799_1800TG>AA	c.(1798-1800)gtg>gAA	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.V600V(2)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATCGAGATTTCACTGTAGCTAG	0.371000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					70			7		0	0	6.4e-05	0	0
ANKRD36	375248	broad.mit.edu	37	2	97860471	97860471	+	Missense_Mutation	SNP	C	T	T	rs150846613	by1000genomes	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:97860471C>T	uc010yva.2	+	38	2702	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	820										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGTGTCTTCTCGGAAAAAACC	0.338000														14			6		0	0	0.00307968	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883592	228883592	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:228883592C>T	uc002vpq.2	-	6	2025	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E660K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E660K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	660						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)		ACGACATTTTCTGAGCACAGG	0.433000														112			13		0	0	0.00316338	0	0
FCF1	51077	broad.mit.edu	37	14	75200829	75200829	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:75200829C>T	uc001xqh.3	+	6	555	c.504C>T	c.(502-504)atC>atT	p.I168I	FCF1_uc001xqf.1_Silent_p.I153I|FCF1_uc001xqi.3_Non-coding_Transcript	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.	168					rRNA processing	nucleolus		p.R167I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AAAGAAGAATCCGTAAGATTC	0.398000														47			5		0	0	0.000602214	0	0
STAC	6769	broad.mit.edu	37	3	36534657	36534657	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:36534657G>A	uc003cgh.1	+	5	741	c.702G>A	c.(700-702)gtG>gtA	p.V234V	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Silent_p.V173V	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	234					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAGATCTTGTGGAGGTTCCTG	0.483000														88			7		0	0	0.00307968	0	0
PDE10A	10846	broad.mit.edu	37	6	165792793	165792793	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:165792793G>A	uc003qun.3	-	18	2090	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.I545I|PDE10A_uc003quo.3_Silent_p.I625I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	615					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTTTGCGGATGATCTCAAGCA	0.418000														72			7		0	0	0.000442599	0	0
HABP2	3026	broad.mit.edu	37	10	115337887	115337887	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr10:115337887G>A	uc001lai.4	+	5	654	c.551G>A	c.(550-552)gGg>gAg	p.G184E	HABP2_uc021pyr.1_Missense_Mutation_p.G158E|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G173R	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	184	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CAGTTCAAGGGGAAATTCTGT	0.547000														51			14		0	0	0.00074312	0	0
PNPT1	87178	broad.mit.edu	37	2	55913524	55913524	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:55913524G>A	uc002rzf.2	-	2	331	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	93					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATAAACTGGGAAGGGGAAGG	0.378000														37			10		0	0	0.000978159	0	0
CENPN	55839	broad.mit.edu	37	16	81045558	81045558	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:81045558T>C	uc002ffy.4	+	1	804	c.14T>C	c.(13-15)gTt>gCt	p.V5A	CENPN_uc002ffw.4_Missense_Mutation_p.V5A|CENPN_uc002ffx.2_Missense_Mutation_p.V5A|CENPN_uc010vnl.1_Missense_Mutation_p.V5A|CENPN_uc010vnm.1_Missense_Mutation_p.V5A	NM_001100625	NP_001094095	Q96H22	CENPN_HUMAN	Homo sapiens centromere protein N (CENPN), transcript variant 1, mRNA.	5					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						GATGAGACTGTTGCTGAGTTC	0.368000														29			4		0	0	0.00116845	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	RNA	SNP	C	T	T	rs75189823	by1000genomes	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:96593025C>T	uc010yug.1	-	26		c.1888G>A			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000														42			5		0	0	0.000602214	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430298	41430298	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:41430298G>A	uc010ehg.1	+	0	129	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G41R|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						GCCCCTTTTGGGGAACCTTCT	0.577000														60			8		0	0	0.000274275	0	0
GIN1	54826	broad.mit.edu	37	5	102432371	102432371	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:102432371G>A	uc003koa.1	-	6	1250	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	GIN1_uc003kob.1_Missense_Mutation_p.P243S|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	390					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATGACACAAGGACCAACCCAT	0.393000														145			19		0	0	0.00395357	0	0
TTN	7273	broad.mit.edu	37	2	179418078	179418078	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:179418078A>T	uc021vsy.1	-	283	82070	c.81845T>A	c.(81844-81846)aTt>aAt	p.I27282N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I20977N|TTN_uc021vta.1_Missense_Mutation_p.I20910N|TTN_uc021vtb.1_Missense_Mutation_p.I20785N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28209	Fibronectin type-III 98.						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)			AGCTTTGGCAATAACAGAAGT	0.403000														211			23		0	0	0.00188189	0	0
DBN1	1627	broad.mit.edu	37	5	176886132	176886132	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:176886132G>A	uc003mgx.2	-	11	1381	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	DBN1_uc011dga.1_Missense_Mutation_p.P97S|DBN1_uc003mgy.2_Missense_Mutation_p.P365S|DBN1_uc010jkn.1_Missense_Mutation_p.P315S|DBN1_uc003mgz.1_Missense_Mutation_p.P348S	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	365					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)			GGCAGTGGTGGAGGCTGCGAG	0.677000														70			10		0	0	0.000978159	0	0
SREBF2	6721	broad.mit.edu	37	22	42271552	42271552	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:42271552C>T	uc003bbi.3	+	6	1379	c.1210C>T	c.(1210-1212)Cta>Tta	p.L404L	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	404	Interaction with LMNA (By similarity).				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						TGCAGAGCTTCTAAAGGGCAT	0.507000														160			30		0	0	0.00209593	0	0
LCA5	167691	broad.mit.edu	37	6	80223044	80223044	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:80223044G>A	uc003piy.3	-	3	1217	c.605C>T	c.(604-606)tCc>tTc	p.S202F	LCA5_uc003pix.3_Missense_Mutation_p.S202F|LCA5_uc011dyr.2_Missense_Mutation_p.S202F	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	202					protein transport	cilium axoneme|microtubule basal body	protein binding	p.F201C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTCTGTAAGGAAAATTTTGT	0.378000														69			12		0	0	0.000978159	0	0
CACNA1E	777	broad.mit.edu	37	1	181741317	181741317	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:181741317G>A	uc009wxt.3	+	36	5284	c.5089G>A	c.(5089-5091)Gat>Aat	p.D1697N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1697N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1678N|CACNA1E_uc001gox.1_Missense_Mutation_p.D923N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1697					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						CTGCGGCACCGATCTGGCCTA	0.557000														88			9		0	0	0.000673444	0	0
ODZ4	26011	broad.mit.edu	37	11	78380468	78380468	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:78380468G>A	uc001ozl.4	-	31	7385	c.6922C>T	c.(6922-6924)Cac>Tac	p.H2308Y	ODZ4_uc001ozk.4_Missense_Mutation_p.H533Y	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2308					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGCAGGTGGTGGCTGTGGCTG	0.602000														76			12		0	0	0.00136819	0	0
GABRA2	2555	broad.mit.edu	37	4	46312230	46312230	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:46312230G>A	uc011bzc.1	-	4	766	c.354C>T	c.(352-354)ttC>ttT	p.F118F	GABRA2_uc003gxc.3_Silent_p.F173F|GABRA2_uc010igc.2_Silent_p.F173F|GABRA2_uc003gxe.3_Silent_p.F173F			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	173					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.M117I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCCATTGGGAAATCCTCCA	0.378000														72			9		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179597660	179597660	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:179597660C>T	uc021vsy.1	-	51	12736	c.12511G>A	c.(12511-12513)Gag>Aag	p.E4171K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E832K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5098							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)			CTGATGATCTCCAAAGAGGCT	0.493000														34			6		0	0	0.00198382	0	0
TYROBP	7305	broad.mit.edu	37	19	36395500	36395500	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:36395500G>A	uc002ocm.3	-	4	394	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	TYROBP_uc002ocn.3_Missense_Mutation_p.L104F|TYROBP_uc021uta.1_Missense_Mutation_p.L94F|TYROBP_uc021utb.1_Missense_Mutation_p.L93F|TYROBP_uc021utc.1_Non-coding_Transcript	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	105					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTGTGTTGAGGTCGCTGTAG	0.532000														27			5		0	0	0.00198382	0	0
AKAP1	8165	broad.mit.edu	37	17	55193620	55193620	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:55193620C>T	uc010wnl.2	+	7	2712	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	AKAP1_uc002iux.3_Silent_p.I810I|AKAP1_uc021uak.1_Silent_p.I810I|AKAP1_uc010dcm.3_Silent_p.I810I	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	810	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCGGCAAATCAGGTGAGCGG	0.582000														59			10		0	0	0.000673444	0	0
CREBBP	1387	broad.mit.edu	37	16	3823809	3823810	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:3823809_3823810GG>AA	uc002cvv.3	-	12	2609_2610	c.2405_2406CC>TT	c.(2404-2406)tcc>tTT	p.S802F	CREBBP_uc002cvw.3_Missense_Mutation_p.S764F	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	802					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGCCCCGCTGGATGACGGGAA	0.604000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							57			7		0	0	6.4e-05	0	0
BRD8	10902	broad.mit.edu	37	5	137501622	137501622	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:137501622C>T	uc003lcf.1	-	10	1228	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	BRD8_uc011cyl.2_Silent_p.K170K|BRD8_uc021yea.1_Silent_p.K281K|BRD8_uc003lcg.3_Silent_p.K464K|BRD8_uc003lci.3_Silent_p.K394K|BRD8_uc011cym.2_Silent_p.K375K|BRD8_uc011cyn.1_Silent_p.K350K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	391					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAATTCTTCCTTCCCATCTA	0.438000														72			8		0	0	0.00307968	0	0
PODN	127435	broad.mit.edu	37	1	53542943	53542943	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:53542943C>T	uc001cuv.3	+	5	975	c.807C>T	c.(805-807)gtC>gtT	p.V269V	PODN_uc010onr.2_Silent_p.V250V|PODN_uc010ons.2_Intron|PODN_uc001cuw.3_Silent_p.V250V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	221					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACGTCGAGGTCCTCATCCTGT	0.632000														104			12		0	0	0.00136819	0	0
SLC38A11	151258	broad.mit.edu	37	2	165793875	165793875	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:165793875G>A	uc002ucw.2	-	5	765	c.434C>T	c.(433-435)tCa>tTa	p.S145L	SLC38A11_uc002ucu.2_Missense_Mutation_p.S123L|SLC38A11_uc002ucv.2_Missense_Mutation_p.S145L	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	145					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGGACCCAGTGAAATTGCCCT	0.358000														117			14		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	22	22657653	22657653	+	RNA	SNP	C	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:22657653C>A	uc021wml.1	+	26		c.1984C>A			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AATCGGGCCCCGATACTCAGG	0.498000														27			4		0.000602214	0.00183031	0.000602214	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12855615	12855615	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:12855615G>A	uc001auj.2	+	3	998	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	299								p.L298M(2)		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)		GGAGAACTTGGAATTAACTTA	0.463000														87			11		0	0	0.000978159	0	0
VWA7	80737	broad.mit.edu	37	6	31742303	31742303	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:31742303C>T	uc011dog.2	-	4	949	c.711G>A	c.(709-711)ccG>ccA	p.P237P	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	237						extracellular region											CTGGAGGTTTCGGGGGATGAG	0.542000														157			15		0	0	0.000566183	0	0
ADRA1A	148	broad.mit.edu	37	8	26628003	26628003	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:26628003G>A	uc003xfc.1	-	1	1500	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.A355V|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.A355V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A355V	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	355					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTAGCCCAGGGCATGTTTGGA	0.542000														145			23		0	0	0.00332997	0	0
NKAPL	222698	broad.mit.edu	37	6	28227579	28227579	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:28227579C>T	uc003nkt.3	+	0	482	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	144										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TCCAAAGTTCCCTCAGCTAGA	0.517000														145			19		0	0	0.00152264	0	0
STAB2	55576	broad.mit.edu	37	12	104111553	104111553	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:104111553C>T	uc001tjw.3	+	43	4803	c.4617C>T	c.(4615-4617)gcC>gcT	p.A1539A	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1539	EGF-like 13.				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	p.A1539P(1)		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						GACAGGCTGCCTGTAACTGTT	0.507000														156			16		0	0	0.000566183	0	0
CORIN	10699	broad.mit.edu	37	4	47647134	47647134	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:47647134G>A	uc003gxm.3	-	13	2014	c.1921C>T	c.(1921-1923)Cca>Tca	p.P641S	CORIN_uc011bzf.2_Missense_Mutation_p.P502S|CORIN_uc011bzg.2_Missense_Mutation_p.P574S|CORIN_uc011bzh.1_Missense_Mutation_p.P604S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	641	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGCAGTCTGGGAACCCATCG	0.388000														91			13		0	0	0.00400662	0	0
CRX	1406	broad.mit.edu	37	19	48339542	48339542	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:48339542G>A	uc002phq.4	+	2	347	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	CRX_uc010elm.1_Non-coding_Transcript	NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	48					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ACCTTCACCCGGAGCCAACTG	0.637000														35			10		0	0	0.000442599	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120522	193120522	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:193120522G>A	uc003ftd.3	-	29	3618	c.3510C>T	c.(3508-3510)acC>acT	p.T1170T	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1170					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAGAGTGGGAGGTTTGGTTTA	0.468000														49			6		0	0	0.00116845	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300737	103300737	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:103300737G>A	uc002tca.3	+	4	1509	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	456						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GTGTTTCCTCGGAAAAAATTG	0.433000														132			13		0	0	0.00316338	0	0
S1PR1	1901	broad.mit.edu	37	1	101705419	101705419	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:101705419G>A	uc021oqt.1	+	0	879	c.879G>A	c.(877-879)gcG>gcA	p.A293A	S1PR1_uc001dud.2_Silent_p.A293A|S1PR1_uc009weg.2_Silent_p.A293A	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	293					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.A293A(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTTCAGAGCGGAGTACTTCC	0.562000														151			26		0	0	0.00106085	0	0
CD244	51744	broad.mit.edu	37	1	160801166	160801166	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:160801166C>T	uc009wtq.3	-	8	1309	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	CD244_uc001fxa.3_Missense_Mutation_p.E357K|CD244_uc009wtr.3_Missense_Mutation_p.E265K|CD244_uc009wtp.3_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	362					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTCCAGCTCTTTGCGGCTC	0.473000														116			11		0	0	0.00400662	0	0
TRIT1	54802	broad.mit.edu	37	1	40312931	40312932	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:40312931_40312932GG>AA	uc021olz.1	-	7	980_981	c.966_967CC>TT	c.(964-969)gcccgg>gcTTgg	p.R323W	TRIT1_uc001ced.4_Missense_Mutation_p.R19W|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Missense_Mutation_p.R77W|TRIT1_uc001ceh.4_Missense_Mutation_p.R77W|TRIT1_uc009vvv.3_Intron|TRIT1_uc001cei.4_Missense_Mutation_p.R77W|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Missense_Mutation_p.R19W|TRIT1_uc001cek.3_Missense_Mutation_p.R19W|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.R241W|TRIT1_uc001cen.3_Missense_Mutation_p.R77W|TRIT1_uc001ceo.3_Missense_Mutation_p.R77W|TRIT1_uc001cep.3_Missense_Mutation_p.R77W	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	323	Interaction with substrate tRNA (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTTGTTTCCGGGCATATCTCT	0.391000														49			6		0	0	6.4e-05	0	0
OR10W1	81341	broad.mit.edu	37	11	58035019	58035019	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:58035019G>A	uc001nmq.1	-	0	714	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGCCAAGAGGAAGCAATCAG	0.537000														46			9		0	0	0.000673444	0	0
FSTL4	23105	broad.mit.edu	37	5	132648406	132648406	+	Nonsense_Mutation	SNP	G	A	A	rs148048628		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:132648406G>A	uc003kyn.1	-	5	885	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	223						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGTCAAATCGGAGGAGGTCA	0.527000														39			5		0	0	0.00116845	0	0
OR1E1	8387	broad.mit.edu	37	17	3301630	3301630	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:3301630G>A	uc002fvj.1	-	0	75	c.75C>T	c.(73-75)aaC>aaT	p.N25N		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CATAGCACAGGTTTTGCTGCT	0.517000														73			11		0	0	0.00244969	0	0
ILDR1	286676	broad.mit.edu	37	3	121712760	121712760	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:121712760G>A	uc003ees.3	-	6	1039	c.836C>T	c.(835-837)cCt>cTt	p.P279L	ILDR1_uc003eeq.3_Missense_Mutation_p.P247L|ILDR1_uc003eer.3_Missense_Mutation_p.P235L|ILDR1_uc010hrg.3_Missense_Mutation_p.P190L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	279						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)		GGCGATGGGAGGCTGATTGGT	0.542000														47			4		0	0	0.00116845	0	0
EPHA7	2045	broad.mit.edu	37	6	93967959	93967959	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:93967959C>T	uc003poe.3	-	10	2209	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	EPHA7_uc003pof.3_Silent_p.G651G|EPHA7_uc011eac.2_Silent_p.G652G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	656	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G656W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATCTCTTTTCCCTGGAAGTT	0.388000														120			18		0	0	0.00152264	0	0
IL1R2	7850	broad.mit.edu	37	2	102626224	102626224	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:102626224G>A	uc002tbm.3	+	2	497	c.268G>A	c.(268-270)Gac>Aac	p.D90N	IL1R2_uc002tbn.3_Missense_Mutation_p.D90N|IL1R2_uc002tbo.1_Missense_Mutation_p.D90N	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	90	Ig-like C2-type 1.				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)	GTGGGCCCAGGACGGTGCTCT	0.597000														156			14		0	0	0.000566183	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684702	169684702	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:169684702G>A	uc002ueg.3	+	3	498	c.232G>A	c.(232-234)Gga>Aga	p.G78R	NOSTRIN_uc002uef.3_Missense_Mutation_p.G78R|NOSTRIN_uc002ueh.3_5'UTR|NOSTRIN_uc010fpu.3_Missense_Mutation_p.G50R	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	78					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						GGCCTCAGAGGGAATGAAATC	0.473000														65			6		0	0	0.00198382	0	0
ITGB4	3691	broad.mit.edu	37	17	73748645	73748645	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:73748645C>T	uc002jpg.3	+	31	4282	c.4095C>T	c.(4093-4095)gtC>gtT	p.V1365V	ITGB4_uc002jph.3_Silent_p.V1365V|ITGB4_uc002jpi.4_Silent_p.V1365V|ITGB4_uc002jpj.3_Silent_p.V1365V	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1365					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCCAGCGTCTCCGATGACA	0.612000														56			5		0	0	0.00116845	0	0
HEY1	23462	broad.mit.edu	37	8	80677781	80677781	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:80677781T>C	uc003ybm.3	-	4	757	c.557A>G	c.(556-558)cAt>cGt	p.H186R	HEY1_uc010lzq.3_Missense_Mutation_p.H67R|HEY1_uc003ybl.3_Missense_Mutation_p.H190R	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 1 (HEY1), transcript variant 1, mRNA.	186					Notch signaling pathway|angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.H186H(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GTGCGGGTGATGTCCGAAGAC	0.692000			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			5		0	0	0.000602214	0	0
PRDM9	56979	broad.mit.edu	37	5	23518034	23518034	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:23518034C>T	uc003jgo.3	+	4	528	c.346C>T	c.(346-348)Cag>Tag	p.Q116*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	116					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						GCGTAAACACCAGAAGGTAAG	0.408000										HNSCC(3;0.000094)				110			16		0	0	0.000566183	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886589	228886589	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:228886589G>A	uc002vpq.2	-	5	582	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	SPHKAP_uc002vpp.2_Silent_p.L179L|SPHKAP_uc010zlx.1_Silent_p.L179L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	179						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)		AGACCAATCAGAAATTTGTTG	0.458000														57			9		0	0	0.000673444	0	0
AKAP13	11214	broad.mit.edu	37	15	86124260	86124260	+	Silent	SNP	C	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:86124260C>A	uc002blv.1	+	6	3131	c.2961C>A	c.(2959-2961)tcC>tcA	p.S987S	AKAP13_uc002blt.1_Silent_p.S987S|AKAP13_uc002blu.1_Silent_p.S987S|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	987					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						CGGGTGCATCCTCTGCCTTTC	0.498000														92			7		0.00307968	0.00932341	0.00307968	1	0
SELE	6401	broad.mit.edu	37	1	169698654	169698654	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:169698654C>T	uc001ggm.4	-	5	1033	c.876G>A	c.(874-876)tgG>tgA	p.W292*	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	292	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCTCGTTGTCCCAATTCCCAG	0.453000														82			5		0	0	0.00116845	0	0
PRDX5	25824	broad.mit.edu	37	11	64087253	64087253	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:64087253G>A	uc001nzu.3	+	1	347	c.219G>A	c.(217-219)ggG>ggA	p.G73G	TRMT112_uc001nzt.3_5'Flank|PRDX5_uc001nzv.3_Silent_p.G73G|PRDX5_uc001nzw.3_Intron	NM_012094	NP_036226	P30044	PRDX5_HUMAN	Homo sapiens peroxiredoxin 5 (PRDX5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	GGGAGCCAGGGAACAAGGTGA	0.597000														86			11		0	0	0.00244969	0	0
ZNF229	7772	broad.mit.edu	37	19	44934623	44934623	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:44934623C>T	uc002oze.1	-	5	767	c.333G>A	c.(331-333)gaG>gaA	p.E111E	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.E105E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CACCTGCCACCTCTTCCCAGA	0.443000														48			7		0	0	0.00198382	0	0
TNRC6A	27327	broad.mit.edu	37	16	24831512	24831512	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:24831512C>T	uc002dmm.3	+	21	5247	c.5133C>T	c.(5131-5133)acC>acT	p.T1711T	TNRC6A_uc010bxs.3_Silent_p.T1458T|TNRC6A_uc002dmn.3_Silent_p.T1409T|TNRC6A_uc002dmo.3_Silent_p.T1350T|TNRC6A_uc002dmr.3_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1711	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTACAAACACCTCTCTGGCTC	0.493000														100			8		0	0	0.000673444	0	0
MUC17	140453	broad.mit.edu	37	7	100679055	100679055	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:100679055G>A	uc003uxp.1	+	2	4411	c.4358G>A	c.(4357-4359)gGa>gAa	p.G1453E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1453	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)					CCTAGTGAAGGAAAGACTCCA	0.498000														173			25		0	0	0.00332997	0	0
EYA1	2138	broad.mit.edu	37	8	72123391	72123391	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:72123391C>T	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTC	0.358000														85			5		0	0	0.00198382	0	0
UNC13C	440279	broad.mit.edu	37	15	54306429	54306429	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:54306429G>A	uc021smr.1	+	0	1329	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	UNC13C_uc021sms.1_Silent_p.K443K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	443					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.K442delK(1)		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)		AAATCAAGAAGAACAATTGGC	0.418000														113			24		0	0	0.00332997	0	0
FCRL4	83417	broad.mit.edu	37	1	157556203	157556203	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:157556203C>T	uc001fqw.3	-	5	1026	c.890G>A	c.(889-891)gGg>gAg	p.G297E	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	297	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCCTGGCCCCCTGAGGGCTG	0.612000														45			5		0	0	0.00307968	0	0
AAMP	14	broad.mit.edu	37	2	219134700	219134700	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:219134700G>A	uc002vhl.3	-	0	194	c.110C>T	c.(109-111)cCg>cTg	p.P37L	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Missense_Mutation_p.P37L|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	37					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)		TGGGTCCGGCGGACCGGGATC	0.622000														95			16		0	0	0.00316338	0	0
ACACA	31	broad.mit.edu	37	17	35598957	35598957	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:35598957G>A	uc002hnm.3	-	22	3024	c.2833C>T	c.(2833-2835)Cta>Tta	p.L945L	ACACA_uc002hnk.3_Silent_p.L867L|ACACA_uc002hnl.3_Silent_p.L887L|ACACA_uc002hnn.3_Silent_p.L945L|ACACA_uc002hno.3_Silent_p.L982L|ACACA_uc010cuz.3_Silent_p.L945L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	945					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGCTATCTAGGATGTTTGCA	0.423000														58			6		0	0	0.00116845	0	0
FAM70A	55026	broad.mit.edu	37	X	119438286	119438286	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chrX:119438286G>A	uc004eso.4	-	1	346	c.119C>T	c.(118-120)tCc>tTc	p.S40F	FAM70A_uc004esp.4_Missense_Mutation_p.S40F|FAM70A_uc010nqo.3_Missense_Mutation_p.S40F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	40						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						AATTAACACGGACACAATAAG	0.443000														37			12		0	0	0.00136819	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672557	77672557	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:77672557G>A	uc021rks.1	-	55	8999	c.8732C>T	c.(8731-8733)tCc>tTc	p.S2911F	MYCBP2_uc010aev.3_Missense_Mutation_p.S2277F|MYCBP2_uc001vkg.1_Missense_Mutation_p.S396F|MYCBP2_uc010aew.3_Missense_Mutation_p.S259F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2873					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)		AGATCCAGGGGAATCTGTAGA	0.468000														56			7		0	0	0.00198382	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741500	81741500	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:81741500C>T	uc001szo.2	-	17	2205	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E608K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E583K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E682K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E682K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E664K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E682K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E249K|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	608										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTCTATTTTCAATTTCTTCA	0.418000														87			7		0	0	0.000274275	0	0
OR4C15	81309	broad.mit.edu	37	11	55322146	55322146	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:55322146C>T	uc010rig.2	+	0	364	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	68					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						CCTGTCCTTCCTGGATGCGTG	0.473000										HNSCC(20;0.049)				145			17		0	0	0.00074312	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498078	118498078	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:118498078C>T	uc001ptr.2	+	6	892	c.539C>T	c.(538-540)cCc>cTc	p.P180L	PHLDB1_uc010ryh.1_Missense_Mutation_p.P179L|PHLDB1_uc001pts.3_Missense_Mutation_p.P180L|PHLDB1_uc001ptt.3_Missense_Mutation_p.P180L|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'UTR|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	180										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACACGGGGACCCTCTGCCTGT	0.542000														42			8		0	0	0.000274275	0	0
APOA4	337	broad.mit.edu	37	11	116691864	116691864	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:116691864G>A	uc001pps.1	-	2	1014	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACCCGGCGTCGGAACTCCTCC	0.652000														260			37		0	0	0.00170553	0	0
PIWIL4	143689	broad.mit.edu	37	11	94353025	94353025	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:94353025G>A	uc001pfa.3	+	17	2479	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	756	Piwi.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCACTGTTGTGGATTCAGAAG	0.443000														63			11		0	0	0.000978159	0	0
MYH6	4624	broad.mit.edu	37	14	23865537	23865537	+	Silent	SNP	C	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:23865537C>G	uc001wjv.3	-	19	2456	c.2385G>C	c.(2383-2385)cgG>cgC	p.R795R		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	795	IQ.		R -> Q (in CMH14; late onset).		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)		TGAGCTGGCCCCGGGCTTGGG	0.587000														49			8		0	0	0.00307968	0	0
FLG2	388698	broad.mit.edu	37	1	152327551	152327551	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:152327551G>T	uc001ezw.4	-	2	2784	c.2711C>A	c.(2710-2712)tCa>tAa	p.S904*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	904	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)			GTATTGTCCTGAGCCAGTCCC	0.483000														273			48		1.54707e-10	4.76755e-10	0.00361006	1	0
MUC17	140453	broad.mit.edu	37	7	100677629	100677629	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:100677629C>T	uc003uxp.1	+	2	2985	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	978	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)					AACCTCGACTCCTAGTGAAGG	0.507000														182			24		0	0	0.00278032	0	0
NPAS4	266743	broad.mit.edu	37	11	66191942	66191943	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:66191942_66191943CC>TT	uc001ohx.1	+	6	1757_1758	c.1581_1582CC>TT	c.(1579-1584)gcccat>gcTTat	p.H528Y	NPAS4_uc010rpc.1_Missense_Mutation_p.H318Y	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	528					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						GCAGCCCTGCCCATGAACAGCT	0.589000														137			12		0	0	6.4e-05	0	0
AXDND1	126859	broad.mit.edu	37	1	179462017	179462017	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:179462017G>A	uc001gmo.3	+	19	2706	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.M731I|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	773										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TAACAGCAATGGCTCTGAGTA	0.373000														55			10		0	0	0.000673444	0	0
UGP2	7360	broad.mit.edu	37	2	64085049	64085049	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:64085049C>T	uc010ypx.2	+	2	268	c.261C>T	c.(259-261)atC>atT	p.I87I	UGP2_uc002scl.3_Silent_p.I67I|UGP2_uc002scm.3_Silent_p.I78I	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	78					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GGGGAAAAATCCAGAGACCCC	0.408000														193			9		0	0	0.000274275	0	0
TMEM99	147184	broad.mit.edu	37	17	38991348	38991348	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:38991348C>T	uc021txc.1	+	2	879	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	TMEM99_uc002hvj.1_Missense_Mutation_p.H194Y|TMEM99_uc021txd.1_Missense_Mutation_p.H194Y|TMEM99_uc021txe.1_Missense_Mutation_p.H194Y	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	194						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TACTAGTTTTCATGACTTCTG	0.388000														63			8		0	0	0.00307968	0	0
LILRB4	11006	broad.mit.edu	37	19	55175697	55175697	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:55175697G>A	uc002qgp.3	+	3	778	c.416G>A	c.(415-417)aGc>aAc	p.S139N	LILRB4_uc002qgq.3_Missense_Mutation_p.S139N|LILRB4_uc010ers.1_Missense_Mutation_p.S52N|LILRB4_uc010ert.3_Missense_Mutation_p.S180N|LILRB4_uc010eru.3_Missense_Mutation_p.S168N	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	139	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCAGGAAAGAGCGTGACCCTG	0.572000														54			16		0	0	0.00316338	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651359	117651359	+	Silent	SNP	C	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:117651359C>A	uc001prh.1	-	1	395	c.393G>T	c.(391-393)ccG>ccT	p.P131P	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	71	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCGGATGTGCGGCACGTCGT	0.667000														104			7		0.000157383	0.000480221	0.00307968	1	0
MST1R	4486	broad.mit.edu	37	3	49940718	49940718	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:49940718G>A	uc003cxy.4	-	0	589	c.325C>T	c.(325-327)Cca>Tca	p.P109S	MST1R_uc011bdc.2_Missense_Mutation_p.P109S|MST1R_uc011bdd.2_Missense_Mutation_p.P109S|MST1R_uc011bde.1_Missense_Mutation_p.P109S|MST1R_uc011bdf.1_Missense_Mutation_p.P109S|MST1R_uc011bdg.2_Missense_Mutation_p.P109S	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	109	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)		TGGGGTCCTGGGCCACAGGCT	0.677000														43			7		0	0	0.00198382	0	0
SZT2	23334	broad.mit.edu	37	1	43896717	43896717	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:43896717C>T	uc001cjk.2	+	31	4785	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1624						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGACTTTGCCCCTGGAAGTGG	0.617000														43			5		0	0	0.00116845	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	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														54			8		0	0	0.000673444	0	0
DZIP1	22873	broad.mit.edu	37	13	96293836	96293836	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:96293836C>T	uc001vmk.3	-	4	1162	c.310G>A	c.(310-312)Gag>Aag	p.E104K	DZIP1_uc001vml.3_Missense_Mutation_p.E104K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	104					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGGCACTTCTCGTCTTCCAGC	0.602000														66			12		0	0	0.00185496	0	0
FAM129A	116496	broad.mit.edu	37	1	184792371	184792371	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:184792371C>T	uc001gra.3	-	7	1109	c.915G>A	c.(913-915)ctG>ctA	p.L305L	FAM129A_uc001grb.1_Silent_p.L68L|FAM129A_uc009wyh.1_Silent_p.L133L|FAM129A_uc009wyi.1_Silent_p.L103L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	305					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						TCGTTCCTTCCAGGCCCTTTG	0.448000														52			13		0	0	0.00185496	0	0
STAC	6769	broad.mit.edu	37	3	36527639	36527639	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:36527639G>A	uc003cgh.1	+	4	624	c.585G>A	c.(583-585)aaG>aaA	p.K195K	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Silent_p.K134K	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	195					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTGGCAATAAGGTGGACCCTG	0.582000														131			18		0	0	0.00229938	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417110	20417110	+	Silent	SNP	C	T	T	rs144012929		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:20417110C>T	uc001bcx.3	+	9	1298	c.435C>T	c.(433-435)ctC>ctT	p.L145L	PLA2G5_uc001bcy.3_Silent_p.L114L	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	114					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.L114L(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		ACCGGAAGCTCGTCTACTGCC	0.567000														78			7		0	0	0.00198382	0	0
BTNL8	79908	broad.mit.edu	37	5	180335744	180335744	+	Missense_Mutation	SNP	G	A	A	rs139672035		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:180335744G>A	uc003mmp.3	+	1	442	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	BTNL8_uc003mmq.3_Missense_Mutation_p.G70R|BTNL8_uc010jll.3_Missense_Mutation_p.G70R|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	70	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACAGGGACGGGAAGGACCA	0.532000														158			19		0	0	0.00152264	0	0
ZNF667	63934	broad.mit.edu	37	19	56952847	56952847	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:56952847T>C	uc002qne.3	-	6	2308	c.1517A>G	c.(1516-1518)aAg>aGg	p.K506R	ZNF667_uc010etl.3_Missense_Mutation_p.K288R|ZNF667_uc002qnd.3_Missense_Mutation_p.K506R|ZNF667_uc010etm.3_Missense_Mutation_p.K449R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCTGAAGGCCTTCCCACACTG	0.463000														39			3		0	0	0.00024832	0	0
SPACA1	81833	broad.mit.edu	37	6	88768451	88768451	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:88768451G>A	uc003pmn.3	+	3	502	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	129						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ACCAATTTCAGAAAGTCTTGA	0.318000														49			9		0	0	0.000274275	0	0
FBXO9	26268	broad.mit.edu	37	6	52957291	52957292	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:52957291_52957292CC>TT	uc021zas.1	+	6	799_800	c.748_749CC>TT	c.(748-750)ccg>TTg	p.P250L	FBXO9_uc021zao.1_Missense_Mutation_p.P130L|FBXO9_uc021zap.1_Missense_Mutation_p.P130L|FBXO9_uc021zaq.1_Missense_Mutation_p.P240L|FBXO9_uc021zar.1_Missense_Mutation_p.P130L	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA.	250						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TAAACTTGTTCCGTACACGTCC	0.421000														125			12		0	0	6.4e-05	0	0
NPY1R	4886	broad.mit.edu	37	4	164246583	164246583	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:164246583G>A	uc003iqm.2	-	2	1492	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.R100W	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	343					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R343W(2)|p.R343L(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393000														90			6		0	0	0.00116845	0	0
PPP4R1	9989	broad.mit.edu	37	18	9557295	9557296	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:9557295_9557296GG>AA	uc002koe.1	-	14	2231_2232	c.2113_2114CC>TT	c.(2113-2115)cca>TTa	p.P705L	PPP4R1_uc002kof.2_Missense_Mutation_p.P122L|PPP4R1_uc010wzo.1_Missense_Mutation_p.P551L|PPP4R1_uc002kod.1_Missense_Mutation_p.P688L	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	705					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATTAAAAATTGGAACCAGATCT	0.366000														226			28		0	0	6.4e-05	0	0
POT1	25913	broad.mit.edu	37	7	124469352	124469352	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:124469352G>A	uc003vlm.3	-	15	2151	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Intron|POT1_uc003vlo.3_Missense_Mutation_p.S386F	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	517					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATCAACCAGGGAATTTAGATT	0.303000														85			6		0	0	0.00307968	0	0
ZNF2	7549	broad.mit.edu	37	2	95845936	95845936	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:95845936C>T	uc002suf.3	+	3	655	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	ZNF2_uc002sug.3_Nonsense_Mutation_p.Q23*|ZNF2_uc010yue.2_Intron|ZNF2_uc010fhs.3_Intron	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q65Q(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGTGATTTTCCAATTGAAGAG	0.463000														96			13		0	0	0.00244969	0	0
ZMYM4	9202	broad.mit.edu	37	1	35864582	35864582	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:35864582C>T	uc001byt.3	+	21	3451	c.3371C>T	c.(3370-3372)tCa>tTa	p.S1124L	ZMYM4_uc009vuu.3_Missense_Mutation_p.S1092L|ZMYM4_uc001byu.3_Missense_Mutation_p.S800L|ZMYM4_uc009vuv.3_Missense_Mutation_p.S863L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1124					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGGCTGATTCAGAATTGAAG	0.433000														63			6		0	0	0.00116845	0	0
ZEB2	9839	broad.mit.edu	37	2	145147437	145147437	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:145147437G>C	uc002tvu.3	-	9	3748	c.3226C>G	c.(3226-3228)Cac>Gac	p.H1076D	ZEB2_uc010zbm.2_Missense_Mutation_p.H1052D|ZEB2_uc002tvv.3_Missense_Mutation_p.H1070D|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1076						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAATACCTGTGATTCATGTGC	0.592000														49			5		0	0	0.000602214	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756415	56756415	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:56756415C>T	uc010rjp.2	+	0	27	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GCACTGAAGTCACTGAATTCT	0.403000														136			24		0	0	0.000720815	0	0
SACS	26278	broad.mit.edu	37	13	23904564	23904564	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:23904564G>A	uc001uon.2	-	9	14040	c.13451C>T	c.(13450-13452)gCt>gTt	p.A4484V	SACS_uc001uoo.2_Missense_Mutation_p.A4337V|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.	4484	HEPN.				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)		TGCAATCAAAGCTAACTTGGT	0.408000														135			17		0	0	0.00074312	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:57354177G>A	uc003xsz.2	-	1	539	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_uc003xta.3_Missense_Mutation_p.S153F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(2)		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)			CAGGTCTGAGGAATTGGCCAG	0.527000														76			19		0	0	0.00074312	0	0
DNM3	26052	broad.mit.edu	37	1	172348277	172348277	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:172348277C>T	uc001gie.3	+	17	2189	c.2013C>T	c.(2011-2013)atC>atT	p.I671I	DNM3_uc001gif.3_Silent_p.I667I|DNM3_uc001gih.1_Silent_p.I27I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	677	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACAAATGTATCCGAGATCTAA	0.398000														24			5		0	0	0.00116845	0	0
HAVCR1	26762	broad.mit.edu	37	5	156459882	156459882	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:156459882C>T	uc010jij.1	-	7	1154	c.969G>A	c.(967-969)aaG>aaA	p.K323K	HAVCR1_uc011ddl.1_Intron|HAVCR1_uc003lwi.2_Silent_p.K323K|HAVCR1_uc021ygj.1_Silent_p.K323K	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	318					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGAACCTCCTTTTTGAAGA	0.338000														221			40		0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179413377	179413377	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:179413377C>T	uc021vsy.1	-	287	85497	c.85272G>A	c.(85270-85272)ggG>ggA	p.G28424G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G22119G|TTN_uc021vta.1_Silent_p.G22052G|TTN_uc021vtb.1_Silent_p.G21927G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29351	Fibronectin type-III 107.						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)			GGGTATATTTCCCTGCATCAT	0.468000														114			15		0	0	0.00400662	0	0
STRA6	64220	broad.mit.edu	37	15	74473698	74473698	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:74473698G>A	uc002axj.3	-	16	2099	c.1739C>T	c.(1738-1740)gCc>gTc	p.A580V	STRA6_uc002axi.3_Missense_Mutation_p.A350V|STRA6_uc010ulh.2_Missense_Mutation_p.A579V|STRA6_uc002axk.3_Missense_Mutation_p.A541V|STRA6_uc002axl.3_Missense_Mutation_p.A473V|STRA6_uc010bji.3_Missense_Mutation_p.A541V|STRA6_uc021sqg.1_Missense_Mutation_p.A556V|STRA6_uc002axm.3_Missense_Mutation_p.A541V|STRA6_uc002axn.3_Missense_Mutation_p.A532V|STRA6_uc010uli.2_Missense_Mutation_p.A578V	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	541					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AAGGTGGATGGCGTTGTAGAG	0.632000														27			4		0	0	0.00024832	0	0
EPSTI1	94240	broad.mit.edu	37	13	43462503	43462503	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr13:43462503G>A	uc001uyw.1	-	12	1192	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D	EPSTI1_uc001uyx.1_3'UTR	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGACTGCACGGTCAAGTGTGT	0.428000														41			15		0	0	0.00316338	0	0
FOXN2	3344	broad.mit.edu	37	2	48586237	48586237	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:48586237C>T	uc002rwh.1	+	3	904	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	197					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TAAACCCAATCTTATCCAGGC	0.353000														63			5		0	0	0.000602214	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121818	12121818	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:12121818A>G	uc003nac.3	+	3	1969	c.1790A>G	c.(1789-1791)cAg>cGg	p.Q597R	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	597					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGGACCTTCAGGTGACAAAC	0.507000														77			10		0	0	0.00185496	0	0
CHD5	26038	broad.mit.edu	37	1	6202348	6202348	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:6202348G>A	uc001amb.2	-	14	2387	c.2276C>T	c.(2275-2277)tCc>tTc	p.S759F	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	759	Helicase ATP-binding.				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)		GATGATGGTGGAGAGGGGCGC	0.642000														43			7		0	0	0.00307968	0	0
OR4K5	79317	broad.mit.edu	37	14	20388883	20388883	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:20388883C>T	uc010tkw.2	+	0	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCATTGTGCTGGGAAATCT	0.403000														113			15		0	0	0.00400662	0	0
MUC16	94025	broad.mit.edu	37	19	9088334	9088334	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:9088334G>A	uc002mkp.3	-	0	3685	c.3481C>T	c.(3481-3483)Cct>Tct	p.P1161S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1161	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						TTGGGAGTAGGAGAAGAAGGA	0.488000														68			12		0	0	0.00244969	0	0
OSM	5008	broad.mit.edu	37	22	30659972	30659972	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:30659972C>T	uc003ahb.3	-	2	700	c.659G>A	c.(658-660)cGg>cAg	p.R220Q		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	220					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCTGTGTCTCCGGCTCCGGTT	0.657000														53			7		0	0	0.000274275	0	0
FGR	2268	broad.mit.edu	37	1	27943786	27943786	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:27943786C>T	uc001boj.3	-	3	596	c.450G>A	c.(448-450)ggG>ggA	p.G150G	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Silent_p.G150G|FGR_uc001bol.3_Silent_p.G150G|FGR_uc001bom.3_Silent_p.G150G	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	150	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATCCTTTCTCCCAATCTTTC	0.572000														43			8		0	0	0.000442599	0	0
LILRB3	11025	broad.mit.edu	37	19	54802724	54802724	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:54802724C>T	uc002qfd.3	-	4	809	c.717G>A	c.(715-717)ggG>ggA	p.G239G	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.G175G	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	238	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGCTTCTCCCCAGGGGCCA	0.597000														28			5		0	0	0.00198382	0	0
DNAH2	146754	broad.mit.edu	37	17	7722089	7722089	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:7722089C>T	uc002giu.1	+	68	10679	c.10665C>T	c.(10663-10665)atC>atT	p.I3555I	DNAH2_uc010cnm.1_Silent_p.I493I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3555	AAA 5 (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)				AGGATGAGATCCTGCGGTGAG	0.632000														38			6		0	0	0.00116845	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471612	61471612	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:61471612C>T	uc002ljl.3	+	7	982	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	SERPINB7_uc002ljm.3_Silent_p.L296L|SERPINB7_uc010xet.2_Silent_p.L279L|SERPINB7_uc010dqg.3_Silent_p.L296L	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	296					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.L296L(2)|p.G295G(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGCCCTAGGGCTGAAAGATAT	0.393000														51			6		0	0	0.00198382	0	0
C18orf25	147339	broad.mit.edu	37	18	43843018	43843018	+	Silent	SNP	T	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:43843018T>A	uc002lbw.3	+	4	1528	c.1149T>A	c.(1147-1149)gcT>gcA	p.A383A	C18orf25_uc002lbx.3_Silent_p.A322A	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	383										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AGACTTGGGCTTCACCAGCAG	0.493000														36			5		0	0	0.000602214	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566864	45566864	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:45566864C>T	uc010dnv.3	-	2	1117	c.681G>A	c.(679-681)agG>agA	p.R227R	ZBTB7C_uc002ldb.3_Silent_p.R205R|ZBTB7C_uc010dnu.3_Silent_p.R214R|ZBTB7C_uc010dnw.3_Silent_p.R205R|ZBTB7C_uc010dnx.1_Silent_p.R205R|ZBTB7C_uc010dny.1_Silent_p.R205R|ZBTB7C_uc010dnz.1_Silent_p.R227R|ZBTB7C_uc010doi.1_Silent_p.R205R|ZBTB7C_uc010doj.1_Silent_p.R214R|ZBTB7C_uc010dok.1_Silent_p.R254R|ZBTB7C_uc010dol.1_Silent_p.R214R|ZBTB7C_uc010doa.1_Silent_p.R227R|ZBTB7C_uc010dob.1_Silent_p.R205R|ZBTB7C_uc010doc.1_Silent_p.R214R|ZBTB7C_uc010dod.1_Silent_p.R227R|ZBTB7C_uc010doe.1_Silent_p.R205R|ZBTB7C_uc010dof.1_Silent_p.R205R|ZBTB7C_uc010dog.1_Silent_p.R205R|ZBTB7C_uc010doh.1_Silent_p.R214R|ZBTB7C_uc010dom.1_Silent_p.R214R|ZBTB7C_uc010don.1_Silent_p.R213R|ZBTB7C_uc010dop.1_Silent_p.R205R|ZBTB7C_uc010doq.1_Silent_p.R214R|ZBTB7C_uc010dor.1_Silent_p.R227R|ZBTB7C_uc010dos.1_Silent_p.R205R|ZBTB7C_uc010dot.1_Silent_p.R205R|ZBTB7C_uc010doo.1_Silent_p.R205R|ZBTB7C_uc010dou.1_Silent_p.R214R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	205						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGGGAAGTCCCTGGGGGTGT	0.572000														66			12		0	0	0.00185496	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471374	146471374	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr7:146471374G>A	uc003weu.2	+	1	625	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	37	F5/8 type C.				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)			AAAATGTGATGAGCCACTTGT	0.443000										HNSCC(39;0.1)				28			10		0	0	0.00185496	0	0
DIXDC1	85458	broad.mit.edu	37	11	111855995	111855995	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr11:111855995G>A	uc001pml.3	+	8	1252	c.955G>A	c.(955-957)Gag>Aag	p.E319K	DIXDC1_uc001pmm.3_Missense_Mutation_p.E108K|DIXDC1_uc001pmn.3_Missense_Mutation_p.E26K	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	320					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGATGAACAGGAGAGGCCCTT	0.443000														16			4		0	0	0.000602214	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722800	145722800	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr8:145722800C>T	uc003zdd.3	+	1	1136	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F	AK094577_uc003zde.1_Missense_Mutation_p.R105K|PPP1R16A_uc003zdf.3_Missense_Mutation_p.L75F	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	75						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGTGTTGTCCTTCTGGAGGC	0.657000														22			7		0	0	0.00307968	0	0
ZBED2	79413	broad.mit.edu	37	3	111312476	111312476	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr3:111312476C>T	uc003dxy.3	-	1	1474	c.573G>A	c.(571-573)atG>atA	p.M191I	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.M191I	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	191							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCTTCCACTTCATCTCCAGGA	0.557000														56			7		0	0	0.00307968	0	0
WSCD1	23302	broad.mit.edu	37	17	6023963	6023963	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:6023963G>A	uc010cli.3	+	8	2089	c.1710G>A	c.(1708-1710)agG>agA	p.R570R	WSCD1_uc002gcn.3_Silent_p.R570R|WSCD1_uc002gco.3_Silent_p.R570R|WSCD1_uc010clj.3_Silent_p.R261R	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	570						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCTGCCCAGGGAGTATGTGC	0.652000														45			10		0	0	0.000978159	0	0
PTPRT	11122	broad.mit.edu	37	20	40790122	40790122	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr20:40790122C>T	uc002xkg.3	-	16	2736	c.2552G>A	c.(2551-2553)cGc>cAc	p.R851H	PTPRT_uc010ggj.3_Missense_Mutation_p.R870H|PTPRT_uc010ggi.3_Missense_Mutation_p.R54H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	851					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	p.R873H(1)		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)				GTCACAGGTGCGGTAGGGATG	0.592000														55			6		0	0	0.00198382	0	0
KIF5A	3798	broad.mit.edu	37	12	57969485	57969486	+	Silent	DNP	CC	TT	TT			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr12:57969485_57969486CC>TT	uc001sor.1	+	16	2176_2177	c.1968_1969CC>TT	c.(1966-1971)cacctg>caTTtg	p.656_657HL>HL	KIF5A_uc010srr.1_Silent_p.567_568HL>HL	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	656					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAAGCGGCACCTGGAAGAGTC	0.554000														137			17		0	0	6.4e-05	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377721	125377721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr9:125377721G>A	uc011lyy.2	+	0	705	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W235*(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AGGGCAGGTGGAAAACCTTTT	0.552000														70			14		0	0	0.00185496	0	0
DDX52	11056	broad.mit.edu	37	17	35988707	35988707	+	Missense_Mutation	SNP	C	T	T	rs146312035	byFrequency	TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:35988707C>T	uc002hoi.2	-	5	801	c.757G>A	c.(757-759)Gag>Aag	p.E253K	DDX52_uc002hoh.2_Missense_Mutation_p.E145K	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	253	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TTTATTAACTCTCTGTGAATC	0.313000														71			7		0	0	0.00307968	0	0
GPR98	84059	broad.mit.edu	37	5	89949582	89949582	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr5:89949582C>T	uc003kju.3	+	19	4287	c.4191C>T	c.(4189-4191)tcC>tcT	p.S1397S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1397					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.S1397S(2)		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)		TGACACTTTCCCTTCATTATA	0.373000														24			5		0	0	0.000602214	0	0
SALL3	27164	broad.mit.edu	37	18	76752127	76752127	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr18:76752127G>A	uc002lmt.3	+	1	136	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GAGCCGCAGCGGGGGCGAGGA	0.706000														13			4		0	0	0.00024832	0	0
OVGP1	5016	broad.mit.edu	37	1	111957374	111957374	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr1:111957374G>A	uc001eba.3	-	10	1805	c.1749C>T	c.(1747-1749)gtC>gtT	p.V583V	OVGP1_uc001eaz.3_Silent_p.V545V|OVGP1_uc010owb.2_Silent_p.V231V	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	583					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTCAGGGGTGACTGATATGT	0.517000														82			14		0	0	0.00244969	0	0
ZNF292	23036	broad.mit.edu	37	6	87969747	87969747	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:87969747C>T	uc003plm.4	+	7	6441	c.6400C>T	c.(6400-6402)Cat>Tat	p.H2134Y		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTGATTCTCCATTACCAGGC	0.418000														68			14		0	0	0.00244969	0	0
C4orf21	55345	broad.mit.edu	37	4	113524759	113524759	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr4:113524759G>A	uc003iau.3	-	9	3108	c.2897C>T	c.(2896-2898)cCa>cTa	p.P966L	C4orf21_uc003iaw.3_Missense_Mutation_p.P966L	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	966										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGTGCTATCTGGAAACTGACT	0.413000														80			7		0	0	0.00307968	0	0
TAAR9	134860	broad.mit.edu	37	6	132859650	132859650	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:132859650G>A	uc011eci.2	+	1	221	c.219G>A	c.(217-219)ctG>ctA	p.L73L		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	74						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTGCGTCGCTGGCCTGTGCTG	0.498000														73			7		0	0	0.00307968	0	0
MUC16	94025	broad.mit.edu	37	19	9064628	9064628	+	Silent	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr19:9064628C>T	uc002mkp.3	-	2	23022	c.22818G>A	c.(22816-22818)agG>agA	p.R7606R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7608	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7605P(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						AGGCAGAAATCCTGGGGATGG	0.478000														41			10		0	0	0.000673444	0	0
CRYM	1428	broad.mit.edu	37	16	21273358	21273358	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr16:21273358C>T	uc002dim.3	-	8	1093	c.795_splice	c.e8+1	p.G265_splice	CRYM_uc010bwq.1_Splice_Site|CRYM_uc002dil.3_Splice_Site_p.G223_splice	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	265					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	AGGGCCTCACCCCTGACAGCA	0.572000														46			7		0	0	0.00198382	0	0
UNC79	57578	broad.mit.edu	37	14	93954060	93954060	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:93954060C>T	uc001ybv.1	+	1	223	c.140C>T	c.(139-141)tCa>tTa	p.S47L	UNC79_uc001ybs.1_Missense_Mutation_p.S47L|UNC79_uc001ybu.1_Missense_Mutation_p.S47L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	224						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCTCTGCATCATCCATGCTA	0.388000														111			13		0	0	0.00316338	0	0
MYO15A	51168	broad.mit.edu	37	17	18029750	18029750	+	Silent	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr17:18029750G>A	uc021trm.1	+	3	4065	c.3846G>A	c.(3844-3846)cgG>cgA	p.R1282R	MYO15A_uc021trl.1_Silent_p.R1282R	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1282	Myosin head-like.				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)					ACAACGGACGGGCCCTGGGAG	0.627000														34			5		0	0	0.000602214	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651976	84651976	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr15:84651976G>A	uc002bjz.4	+	20	3820	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1199E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1199	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCAGGATTGGAAATACAGTA	0.413000														135			20		0	0	0.00121646	0	0
IL36G	56300	broad.mit.edu	37	2	113742450	113742450	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:113742450G>A	uc002tio.1	+	4	403	c.334G>A	c.(334-336)Gag>Aag	p.E112K	IL36G_uc010fkr.1_Missense_Mutation_p.E77K	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	112					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.P111P(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGGCCAACCCGAGCCCGTGAA	0.493000														121			25		0	0	0.00127121	0	0
MIR663B	100313824	broad.mit.edu	37	2	133014651	133014652	+	Splice_Site	INS	-	C	C	rs150907057		TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr2:133014651_133014652insC	uc021vpu.1	-	1		c.1_splice	c.e1-1		ANKRD30BL_uc002ttj.3_Intron					Homo sapiens microRNA 663b (MIR663B), microRNA.																		GGCCCTCGGCACCACCGAGACC	0.678													---	6	---	---	3	---					
MBOAT1	154141	broad.mit.edu	37	6	20102606	20102606	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr6:20102606delT	uc003ncx.1	-	12	1604	c.1399delA	c.(1399-1401)atafs	p.I467fs	MBOAT1_uc011dji.1_Frame_Shift_Del_p.I318fs	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	467					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AATAGTATTATCAGGAGACTT	0.353													---	90	---	---	9	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	4	---	---	4	---					
MYO18B	84700	broad.mit.edu	37	22	26317359	26317360	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-BF-A1PX-01A-12D-A19A-08	TCGA-BF-A1PX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aed7006f-6ea1-4251-b6a2-17919eae8030	c341afa8-58ab-493f-a0fd-4d44754effff	g.chr22:26317359_26317360insAA	uc003abz.1	+	33	5750_5751	c.5500_5501insAA	c.(5500-5502)gagfs	p.E1834fs	MYO18B_uc003aca.1_Frame_Shift_Ins_p.E1715fs|MYO18B_uc010guy.1_Frame_Shift_Ins_p.E1716fs|MYO18B_uc010guz.1_Frame_Shift_Ins_p.E1714fs|MYO18B_uc011aka.1_Frame_Shift_Ins_p.E988fs|MYO18B_uc011akb.1_Frame_Shift_Ins_p.E1347fs	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1834	Tail.					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						GGAGGAGCTGGAGAAAGTGCAC	0.574													---	4	---	---	2	---