Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MUC2	4583	broad.mit.edu	37	11	1094686	1094686	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:1094686C>T	uc001lsx.1	+	32	5789	c.5762C>T	c.(5761-5763)aCg>aTg	p.T1921M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1997						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCGGTACCACGACCGGGTCA	0.637000													56	88					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75923415	75923415	+	Silent	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr13:75923415C>A	uc001vjl.1	-	4	1646	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	TBC1D4_uc010aer.2_Silent_p.L433L|TBC1D4_uc010aes.2_Silent_p.L433L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	433	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGGCCTGTTTCAGAGTCAGCA	0.473000													22	19					2.52088e-20	2.80898e-20	1	1	0
RAPH1	65059	broad.mit.edu	37	2	204304798	204304798	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:204304798C>G	uc002vad.3	-	13	3340	c.3115G>C	c.(3115-3117)Gga>Cga	p.G1039R		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1039					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGAGAACTCCAGGAAGGTTG	0.552000													21	48					0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610299	76610299	+	RNA	SNP	A	A	G	rs62473743	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:76610299A>G	uc011kgn.1	+	0		c.161A>G			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CTGGCCCTGTATCAGGCCGCT	0.672000													3	79					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139707076	139707076	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr8:139707076C>T	uc003yvd.3	-	32	3086	c.2639G>A	c.(2638-2640)gGg>gAg	p.G880E	COL22A1_uc011ljo.2_Missense_Mutation_p.G180E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	880	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCGGTTCCCCAGGCAGGCC	0.602000										HNSCC(7;0.00092)			34	41					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072714	220072714	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:220072714C>T	uc002vka.3	+	3	560	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	ZFAND2B_uc010zkt.2_Silent_p.L130L|ZFAND2B_uc010fwd.1_Silent_p.L130L|ZFAND2B_uc002vjz.1_Silent_p.L130L|ZFAND2B_uc002vkb.1_Silent_p.L21L	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	130						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCATCCACTGGACCATGA	0.552000													82	33					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525076	9525076	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:9525076C>T	uc002wnl.2	-	8	2354	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	PAK7_uc002wnk.2_Silent_p.L603L|PAK7_uc002wnj.2_Silent_p.L603L|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	603	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGTGCCAACCAATGATTTCC	0.478000													23	50					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275620	35275620	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:35275620T>A	uc001ziw.3	-	2	370	c.16A>T	c.(16-18)Aat>Tat	p.N6Y	ZNF770_uc021siy.1_Missense_Mutation_p.N6Y	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTTTTAAATTGTTTTCAGCC	0.313000													21	30					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435382	18435382	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:18435382G>A	uc001rdt.3	+	1	483	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E123K|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	123					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.K122Q(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACGAATAAAGAATGCTCCTG	0.398000													5	27					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139235873	139235873	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:139235873G>T	uc003qii.3	-	14	2325	c.1746C>A	c.(1744-1746)gcC>gcA	p.A582A	REPS1_uc003qig.4_Silent_p.A555A|REPS1_uc011edr.2_Silent_p.A581A|REPS1_uc003qij.3_Silent_p.A491A|REPS1_uc003qik.3_Silent_p.A188A	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	582	Pro-rich.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CAGGAGGATGGGCAACAACTC	0.398000													27	28					1.99505e-19	2.18151e-19	1	1	0
NSRP1	84081	broad.mit.edu	37	17	28512533	28512533	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:28512533G>T	uc002heu.3	+	6	1546	c.1518G>T	c.(1516-1518)ggG>ggT	p.G506G	NSRP1_uc002hev.3_Silent_p.G452G|NSRP1_uc010wbl.2_Silent_p.G452G|NSRP1_uc010wbm.2_Silent_p.G452G|NSRP1_uc002hex.3_Silent_p.G452G	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	506					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGAGGAAGGGCAAGAGAAGG	0.433000													75	60					2.60632e-51	2.9896e-51	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1241763	1241763	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:1241763A>T	uc002qwq.3	+	9	952	c.823A>T	c.(823-825)Aac>Tac	p.N275Y	SNTG2_uc010ewi.3_Missense_Mutation_p.N148Y	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	275					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGTCTCAGCCAACATCAGGGA	0.547000													21	13					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113540317	113540317	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:113540317G>T	uc002tig.3	-	2	1032	c.72C>A	c.(70-72)tcC>tcA	p.S24S		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	24					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GATGATCAATGGAGGAACTGT	0.373000													23	80					3.85864e-22	4.34097e-22	1	1	0
FOXD2	2306	broad.mit.edu	37	1	47905224	47905224	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:47905224G>A	uc001crm.3	+	0	3536	c.1417G>A	c.(1417-1419)Ggg>Agg	p.G473R		NM_004474	NP_004465	O60548	FOXD2_HUMAN	Homo sapiens forkhead box D2 (FOXD2), mRNA.	473					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CTCGCATCCCGGGGACGCGCT	0.701000													16	12					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101347482	101347482	+	Missense_Mutation	SNP	C	C	T	rs61993318	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:101347482C>T	uc010txj.1	-	0	3703	c.3644G>A	c.(3643-3645)cGt>cAt	p.R1215H	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	1215								p.R1215H(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCGGTTCTGACGCAGGGCAGG	0.627000													56	108					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178567002	178567002	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:178567002G>A	uc003mjw.3	-	10	1766	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	555	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGGATGTCAGGTGTCAGCCA	0.607000													46	107					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491125	64491125	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:64491125G>C	uc010ssp.1	+	14	1839	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	SRGAP1_uc001srv.2_Missense_Mutation_p.E532Q	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	595	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTTCCTAAGGAAAGATTTAA	0.398000													12	22					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173454563	173454563	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:173454563A>G	uc001giy.1	+	2	367	c.316A>G	c.(316-318)Agg>Ggg	p.R106G		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	106	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	p.D105G(1)|p.R106M(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CATCGATGATAGGAATCGGGA	0.453000													36	49					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053588	65053588	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:65053588G>A	uc001xhl.1	+	8	798	c.702G>A	c.(700-702)aaG>aaA	p.K234K	PPP1R36_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	234																	AAGACTGGAAGTTCTTTGAGG	0.353000													10	32					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27958146	27958146	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:27958146T>C	uc002heo.1	-	14	3985	c.3985A>G	c.(3985-3987)Aca>Gca	p.T1329A	SSH2_uc010wbh.1_Missense_Mutation_p.T1356A	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1329					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTGTTGTTGTGAGTTGT	0.532000													27	82					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	T	C	rs79284655		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:32890639T>C	uc002edh.1	-	4	423	c.247A>G	c.(247-249)Aag>Gag	p.K83E	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ACCAGCGGCTTGTAGTACACA	0.627000													6	81					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384826	108384826	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:108384826C>T	uc001pkk.3	-	5	1519	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	EXPH5_uc010rvz.2_Missense_Mutation_p.G314R|EXPH5_uc010rvy.2_Missense_Mutation_p.G282R	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	470					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCTGTTCTCCGCTTCGTCCA	0.433000													24	68					0	0	1	0	0
FAM186A	121006	broad.mit.edu	37	12	50745783	50745783	+	Missense_Mutation	SNP	T	T	A	rs139509156	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:50745783T>A	uc001rwl.2	-	3	4970	c.4832A>T	c.(4831-4833)cAg>cTg	p.Q1611L	FAM186A_uc010smt.1_Missense_Mutation_p.Q1389L	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	Homo sapiens family with sequence similarity 186, member A (FAM186A), mRNA.	1611								p.Q1611L(1)									AGGGATCCCCTGAGCCTGCGC	0.677000													4	39					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019255	39019255	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:39019255A>T	uc002oit.3	+	74	11084	c.10954A>T	c.(10954-10956)Atg>Ttg	p.M3652L	RYR1_uc002oiu.3_Missense_Mutation_p.M3647L|RYR1_uc002oiv.1_Missense_Mutation_p.M567L|RYR1_uc010xuf.1_Missense_Mutation_p.M572L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3652					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCATGTAACATGTTCCTGGA	0.612000													67	111					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26901111	26901111	+	Missense_Mutation	SNP	C	C	T	rs145665688	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:26901111C>T	uc002hbp.3	-	6	918	c.773G>A	c.(772-774)cGt>cAt	p.R258H	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	258					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.R258H(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACAGTGCGACGCAGGGCAGT	0.602000													106	84					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447729	63447729	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:63447729G>A	uc001xfx.3	-	5	854	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNH5_uc001xfy.3_Missense_Mutation_p.T268M|KCNH5_uc001xfz.1_Missense_Mutation_p.T210M|KCNH5_uc001xga.3_Missense_Mutation_p.T210M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	268					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T268T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACGAAAGTCGTGTGAAAATT	0.423000													35	41					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725867	15725867	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:15725867G>C	uc003stc.3	-	0	442	c.161C>G	c.(160-162)cCc>cGc	p.P54R		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	54					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CTCTTCGTTGGGGTATCCCGC	0.572000													31	101					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669246	122669246	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:122669246T>C	uc009zxm.3	+	1	356	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	111										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGAGAGAATTGGCCATCCG	0.592000													71	95					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520587	23520587	+	Silent	SNP	G	G	A	rs77590981	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:23520587G>A	uc001bgn.3	-	0	636	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	42					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAAGGACCACGGCAAGGGAGA	0.577000													44	66					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929467	32929467	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:32929467T>C	uc001zgy.1	+	11	3215	c.2493T>C	c.(2491-2493)ctT>ctC	p.L831L	ARHGAP11A_uc010ubw.1_Silent_p.L642L|ARHGAP11A_uc010ubx.1_Silent_p.L642L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	831					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTCACCTCTTAAGTTTCAGC	0.388000													41	48					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812937	131812937	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:131812937G>A	uc002tsd.3	-	4	612	c.383C>T	c.(382-384)cCt>cTt	p.P128L		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	128										endometrium(3)|lung(2)	5						CACCGTTGCAGGCATGCCGTT	0.622000													128	74					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000													3	71					7.48243e-07	7.54693e-07	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141035313	141035313	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:141035313G>C	uc003llm.3	-	30	4063	c.3985C>G	c.(3985-3987)Cag>Gag	p.Q1329E	ARAP3_uc003lll.3_Missense_Mutation_p.Q280E|ARAP3_uc011dbe.2_Missense_Mutation_p.Q991E|ARAP3_uc003lln.3_Missense_Mutation_p.Q1160E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1329					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACCACTGGCTGCTGGTCATCG	0.617000													49	120					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129766960	129766960	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:129766960C>T	uc021zfb.1	+	44	6528	c.6423C>T	c.(6421-6423)gcC>gcT	p.A2141A	LAMA2_uc003qbn.3_Silent_p.A2139A|LAMA2_uc003qbo.3_Silent_p.A2139A	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2141	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAACAAGCCAATTCTGTAA	0.368000													14	20					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201719790	201719790	+	Silent	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:201719790T>G	uc002uwe.2	-	9	1258	c.1077A>C	c.(1075-1077)ccA>ccC	p.P359P	CLK1_uc010zhi.1_Silent_p.P401P|CLK1_uc002uwf.2_Silent_p.P133P|CLK1_uc002uwg.2_Silent_p.P208P	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	359	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGACATCACATGGTTGGGACC	0.348000													7	243					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17907127	17907127	+	Splice_Site	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:17907127G>T	uc001ban.3	+	2	196	c.37_splice	c.e2+1	p.G13_splice	ARHGEF10L_uc009vpe.1_Splice_Site_p.G13_splice|ARHGEF10L_uc001bao.3_Splice_Site_p.G13_splice|ARHGEF10L_uc001bap.3_Splice_Site_p.G13_splice	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	13					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCTGCCATAGGTACCGTACC	0.622000													24	42					7.01153e-11	7.32455e-11	1	1	0
VWA5B1	127731	broad.mit.edu	37	1	20662938	20662938	+	Missense_Mutation	SNP	A	A	G	rs10916769	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:20662938A>G	uc009vps.2	+	12	2097	c.1901A>G	c.(1900-1902)aAa>aGa	p.K634R	VWA5B1_uc001bdd.2_Missense_Mutation_p.K341R|VWA5B1_uc010odc.1_Missense_Mutation_p.K529R|VWA5B1_uc001bde.3_Non-coding_Transcript|VWA5B1_uc009vpt.2_Missense_Mutation_p.K110R	NM_001039500	NP_001034589	Q5TIE3	VW5B1_HUMAN	Homo sapiens von Willebrand factor A domain containing 5B1 (VWA5B1), mRNA.	634			K -> R (in dbSNP:rs10916769).			extracellular region				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						GGGCAGGCCAAAAATGCCCGG	0.572000													4	173					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148995	73148995	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr4:73148995C>T	uc003hgk.2	-	21	3513	c.3476G>A	c.(3475-3477)aGt>aAt	p.S1159N		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1159					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGCTGAACTGAGGTGGAC	0.498000													42	86					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57908473	57908473	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:57908473C>T	uc002qon.3	+	2	359	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	ZNF548_uc002qom.3_Missense_Mutation_p.L25F|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGGGCACCTTGATGAGGC	0.512000													95	156					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377935	31377935	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:31377935G>A	uc003tch.3	-	1	1301	c.948C>T	c.(946-948)taC>taT	p.Y316Y	NEUROD6_uc022abi.1_Silent_p.Y316Y	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	316					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y316Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATGTAAGTCGTAAGGGAAGT	0.453000													41	42					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144397926	144397926	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr8:144397926G>C	uc003yxz.3	-	11	1543	c.1524C>G	c.(1522-1524)caC>caG	p.H508Q	TOP1MT_uc011lkd.2_Missense_Mutation_p.H410Q|TOP1MT_uc011lke.2_Missense_Mutation_p.H410Q|TOP1MT_uc011lkf.2_Missense_Mutation_p.H303Q	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	508					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTTGGGCTTTGTGCTCAGCCC	0.662000													27	33					0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68941414	68941414	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:68941414G>T	uc002ewi.4	+	9	1748	c.1736G>T	c.(1735-1737)gGg>gTg	p.G579V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	579						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GAGCATCTCGGGGACTTGCTG	0.488000													31	75					1.00001e-27	1.13593e-27	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18975517	18975517	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:18975517C>T	uc003sui.3	+	21	2930	c.2889C>T	c.(2887-2889)gcC>gcT	p.A963A	HDAC9_uc003sue.3_Silent_p.A960A|HDAC9_uc003suh.3_Silent_p.A960A|HDAC9_uc003suj.3_Silent_p.A919A|HDAC9_uc003suk.3_Silent_p.A208A	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	960	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTCACAGCCATCTGTGATG	0.433000													39	112					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23728992	23728992	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:23728992C>G	uc003swo.4	+	2	433	c.344C>G	c.(343-345)cCc>cGc	p.P115R	FAM221A_uc003swq.4_Missense_Mutation_p.P115R|FAM221A_uc003swr.4_Missense_Mutation_p.P57R|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	115																	CTTTATGTCCCCTTGAATGGT	0.493000													21	65					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846267	20846267	+	Silent	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:20846267G>C	uc001vxe.3	-	38	5677	c.5637C>G	c.(5635-5637)gcC>gcG	p.A1879A	TEP1_uc010ahk.3_Silent_p.A1222A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.A1771A|TEP1_uc010tlh.1_Silent_p.A217A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1879					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCAGGGAAGGCAGCCAGCC	0.632000													31	59					0	0	1	0	0
C20orf62	140834	broad.mit.edu	37	20	43090810	43090810	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:43090810G>A	uc002xmb.3	-	1	293	c.228C>T	c.(226-228)aaC>aaT	p.N76N						RecName: Full=Uncharacterized protein C20orf62;											lung(1)	1						AGGTGACACCGTTTGGACTAA	0.502000													18	45					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138649177	138649177	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr9:138649177C>G	uc011mdq.2	+	8	783	c.709C>G	c.(709-711)Ccc>Gcc	p.P237A	KCNT1_uc011mdr.2_Missense_Mutation_p.P64A|KCNT1_uc010nbf.3_Missense_Mutation_p.P189A|KCNT1_uc004cgo.1_5'UTR	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	237						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGTTCATCCCCGTCTTTCT	0.667000													16	30					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241762	1241762	+	Silent	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:1241762C>A	uc002qwq.3	+	9	951	c.822C>A	c.(820-822)gcC>gcA	p.A274A	SNTG2_uc010ewi.3_Silent_p.A147A	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	274					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGGTCTCAGCCAACATCAGGG	0.552000													23	13					3.1745e-13	3.34609e-13	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118451949	118451949	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr5:118451949A>T	uc010jcl.1	+	6	842	c.661A>T	c.(661-663)Att>Ttt	p.I221F	DMXL1_uc003ksd.2_Missense_Mutation_p.I221F|DMXL1_uc021ycw.1_Missense_Mutation_p.I48F|DMXL1_uc003ksc.1_Missense_Mutation_p.I221F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	221			I -> M (in dbSNP:rs7700801).							breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCAAGGAGAAATTGACTTTTC	0.403000													18	57					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169686	207169686	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:207169686A>G	uc002vbp.2	+	4	684	c.434A>G	c.(433-435)cAg>cGg	p.Q145R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	145							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGAAGGGACAGCAGCAGCCC	0.423000													3	71					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514314	69514314	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:69514314C>T	uc001opf.3	-	2	829	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	123					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			ATCTCCTCCTCGAAAGCACAG	0.562000													4	84					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63537709	63537709	+	Silent	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:63537709A>T	uc011kdm.2	+	3	461	c.282A>T	c.(280-282)tcA>tcT	p.S94S		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAAACGATTCATTTCAAAAAG	0.378000													15	55					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676808	100676808	+	Missense_Mutation	SNP	A	A	G	rs71517134		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:100676808A>G	uc003uxp.1	+	2	2164	c.2111A>G	c.(2110-2112)gAg>gGg	p.E704G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	704	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)					GCCAGTTCTGAGGCTAGCACC	0.502000													46	153					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918079	50918079	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:50918079T>A	uc010eny.3	+	18	2475	c.2474T>A	c.(2473-2475)tTc>tAc	p.F825Y	POLD1_uc002psb.4_Missense_Mutation_p.F799Y|POLD1_uc002psc.4_Missense_Mutation_p.F799Y|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	799					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CAGGTCTACTTCCCATACCTG	0.642000								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	43					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1630298	1630298	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:1630298C>T	uc002ftj.2	+	0	2174	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCTCCTCCAGTCAAGCG	0.607000													26	9					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71779166	71779166	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:71779166T>G	uc010cgg.3	-	18	2194	c.1880A>C	c.(1879-1881)gAt>gCt	p.D627A	AP1G1_uc021tkz.1_Missense_Mutation_p.D415A|AP1G1_uc002fbb.3_Missense_Mutation_p.D650A|AP1G1_uc002faz.3_Missense_Mutation_p.D44A|AP1G1_uc021tky.1_Missense_Mutation_p.D630A	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	627					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCCAATAAATCATTGGCCTA	0.358000													52	27					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104432588	104432588	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr8:104432588A>C	uc003yln.3	+	1	900	c.623A>C	c.(622-624)aAa>aCa	p.K208T	DCAF13_uc003ylm.1_Intron	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	56					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTATTTGCAAAACCATTCCTT	0.453000													37	66					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40586008	40586008	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chrX:40586008T>C	uc004dex.4	-	2	478	c.338A>G	c.(337-339)gAa>gGa	p.E113G	MED14_uc010nhe.1_5'UTR	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	113					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			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCACATTTTTCCACTTTGCC	0.328000													3	46					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347236	48347236	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:48347236C>T	uc010rhv.2	+	0	744	c.744C>T	c.(742-744)taC>taT	p.Y248Y		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATCCTGTACTCCTTGAGGT	0.493000													26	199					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26597328	26597328	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:26597328A>T	uc003nii.3	+	0	158	c.118A>T	c.(118-120)Aag>Tag	p.K40*		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	40					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CTGTGGCAGCAAGAAACGGGT	0.627000													58	87					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764048	92764048	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:92764048A>T	uc003umh.1	-	4	2453	c.1237T>A	c.(1237-1239)Tac>Aac	p.Y413N	SAMD9L_uc003umj.1_Missense_Mutation_p.Y413N|SAMD9L_uc003umi.1_Missense_Mutation_p.Y413N|SAMD9L_uc010lfb.1_Missense_Mutation_p.Y413N|SAMD9L_uc003umk.1_Missense_Mutation_p.Y413N|SAMD9L_uc010lfc.1_Missense_Mutation_p.Y413N|SAMD9L_uc010lfd.1_Missense_Mutation_p.Y413N|SAMD9L_uc022ahh.1_Missense_Mutation_p.Y413N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	413										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTCATAGTATGAATTATCC	0.358000													5	17					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789010	67789010	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:67789010G>T	uc010rpy.2	+	7	732	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	ALDH3B1_uc001omz.3_Missense_Mutation_p.V206F|ALDH3B1_uc001ona.3_Missense_Mutation_p.V170F|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	207					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CCTGACACCTGTCACCCTGGA	0.622000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	113					0.00448238	0.00448238	1	1	0
KIT	3815	broad.mit.edu	37	4	55570036	55570036	+	Silent	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr4:55570036C>G	uc010igr.3	+	4	990	c.903C>G	c.(901-903)gtC>gtG	p.V301V	KIT_uc010igs.3_Silent_p.V301V	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	301	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAAATGTCACAACAACCT	0.348000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				47	77					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92953019	92953019	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:92953019A>T	uc003umo.3	+	20	2080	c.1952A>T	c.(1951-1953)tAt>tTt	p.Y651F	CCDC132_uc003ump.3_Missense_Mutation_p.Y621F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.Y371F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	651										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATGCAATATATACCTTTTTT	0.279000													6	18					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335495	124335495	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:124335495G>A	uc001uft.4	+	33	5834	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1937	AAA 1 (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)		CATGAACCCCGGCTACGCAGG	0.582000													41	32					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225422463	225422463	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:225422463T>G	uc010fwy.1	-	1	248	c.195A>C	c.(193-195)agA>agC	p.R65S	CUL3_uc010zls.1_Intron|CUL3_uc002vny.2_Missense_Mutation_p.R59S	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	59					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TATATGCATTTCTATAGAGCT	0.338000													18	8					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509696	125509696	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:125509696G>T	uc001uha.1	+	2	619	c.476G>T	c.(475-477)tGg>tTg	p.W159L	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	159						integral to membrane|mitochondrial outer membrane		p.W159S(2)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGCTTCTTCTGGATCGTGCGG	0.622000													31	36					1.30998e-17	1.41915e-17	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357347	118357347	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr10:118357347T>C	uc001lco.1	+	6	600	c.582T>C	c.(580-582)gaT>gaC	p.D194D	PNLIPRP1_uc001lcp.2_Silent_p.D194D|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	194					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TAGGGTTGGATCCTGTAGAAG	0.507000													43	70					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27473632	27473632	+	Missense_Mutation	SNP	C	C	T	rs143019604		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:27473632C>T	uc002dov.2	-	35	6140	c.6100G>A	c.(6100-6102)Gtg>Atg	p.V2034M	GTF3C1_uc002dou.3_Missense_Mutation_p.V2009M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	2034						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AACTCCAGCACGGCGACGGGC	0.667000													18	51					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643252	1643252	+	Silent	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:1643252A>G	uc009ycy.1	-	0	117	c.30T>C	c.(28-30)tgT>tgC	p.C10C	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	104						keratin filament		p.C24C(5)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		agccagagccacagcccccac	0.687000													5	27					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42289163	42289163	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr22:42289163C>A	uc003bbi.3	+	11	2420	c.2251C>A	c.(2251-2253)Cac>Aac	p.H751N	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.	751					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						TGGCCCCGAGCACAGTGCTGT	0.612000													31	33					3.3946e-10	3.48393e-10	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114487016	114487016	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr2:114487016A>C	uc002tku.1	-	10	1466	c.1052T>G	c.(1051-1053)gTa>gGa	p.V351G	SLC35F5_uc002tkt.3_Non-coding_Transcript	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	351					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTCTCTATCTACTTTTCTCTT	0.348000													66	35					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19640278	19640278	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:19640278G>T	uc002nmt.2	+	1	237	c.165G>T	c.(163-165)caG>caT	p.Q55H	YJEFN3_uc021uqv.1_Missense_Mutation_p.Q177H|YJEFN3_uc021uqw.1_Intron|YJEFN3_uc010ecf.2_Intron|YJEFN3_uc002nmu.2_Intron	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	55										NS(1)|breast(1)|lung(3)	5						GGGGAAGGCAGTCATGGCTAG	0.577000													28	107					1.36161e-19	1.50291e-19	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869309	36869309	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:36869309C>A	uc002xhy.1	-	2	1496	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	KIAA1755_uc002xhz.1_Missense_Mutation_p.E408D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	408										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCACCATATTCTCTGGGTTTC	0.577000													19	23					1.96292e-10	2.03241e-10	1	1	0
CYP27B1	1594	broad.mit.edu	37	12	58158227	58158227	+	Missense_Mutation	SNP	G	G	A	rs142446425		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:58158227G>A	uc001spz.1	-	5	1222	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	CYP27B1_uc001sqa.1_Missense_Mutation_p.A122V|CYP27B1_uc001sqb.1_3'UTR|CYP27B1_uc001sqc.1_3'UTR	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	357					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TGAGGGGTAGGCACTGGAGCC	0.597000													42	57					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031889	33031889	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:33031889G>A	uc001rlj.4	-	1	416	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	PKP2_uc001rlk.4_Missense_Mutation_p.R101C|PKP2_uc010skj.2_Missense_Mutation_p.R101C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGGGGAACGGCCTCCAACA	0.378000													4	48					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877442	10877442	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:10877442T>G	uc003mzn.4	-	1	346	c.274A>C	c.(274-276)Acc>Ccc	p.T92P	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	92					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCGGGCAGGGTGCAGGCCTGT	0.642000													4	50					0	0	1	0	0
CXorf64	100130613	broad.mit.edu	37	X	125955414	125955414	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chrX:125955414T>A	uc010nra.3	+	1	873	c.793T>A	c.(793-795)Ttt>Att	p.F265I		NM_001122716	NP_001116188	B1ATL7	CX064_HUMAN	Homo sapiens chromosome X open reading frame 64 (CXorf64), mRNA.	265	Pro-rich.																GCCTCTTCCTTTTGCTCCTCC	0.488000													43	11					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:42199308T>C	uc002xkv.3	+	5	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_uc002xkr.3_Missense_Mutation_p.F138L|SGK2_uc010ggm.3_Missense_Mutation_p.F138L|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.F138L	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	198	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627000													11	39					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52700004	52700004	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:52700004A>G	uc010snq.2	+	7	1320	c.1187A>G	c.(1186-1188)aAg>aGg	p.K396R	KRT86_uc009zmg.3_Missense_Mutation_p.K396R|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.K396R	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	396	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.S395S(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGAACTCCAAGCTGGGCCTG	0.637000											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	87					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50333366	50333366	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:50333366G>C	uc002ppw.2	+	6	773	c.710G>C	c.(709-711)gGc>gCc	p.G237A	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Missense_Mutation_p.G18A	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	237	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCAGCCCCAGGCCCCCTCCAG	0.642000													3	19					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156633	21156633	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr16:21156633G>A	uc010vbe.2	-	2	317	c.317C>T	c.(316-318)cCc>cTc	p.P106L	DNAH3_uc002die.2_Missense_Mutation_p.P77L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	106	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G105E(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)		GGAATCACTGGGTCCACGGTG	0.542000													91	248					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	135					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600607	232600607	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:232600607C>G	uc001hvg.3	-	6	2957	c.2799G>C	c.(2797-2799)agG>agC	p.R933S	SIPA1L2_uc001hvf.3_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	933					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I932I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAACAATTTCCCTGATGTCTT	0.408000													29	43					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525075	9525075	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr20:9525075C>A	uc002wnl.2	-	8	2355	c.1810G>T	c.(1810-1812)Gtt>Ttt	p.V604F	PAK7_uc002wnk.2_Missense_Mutation_p.V604F|PAK7_uc002wnj.2_Missense_Mutation_p.V604F|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	604	Protein kinase.		V -> I (in a metastatic melanoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity	p.V604I(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAGTGCCAACCAATGATTTC	0.478000													24	49					1.39806e-14	1.48702e-14	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769063	31769063	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:31769063C>T	uc002nsy.4	-	1	1701	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGGGATAGCCCCCCCAGCTA	0.557000													64	79					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883242	152883242	+	Silent	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:152883242T>G	uc021ozl.1	+	0	969	c.969T>G	c.(967-969)ccT>ccG	p.P323P	IVL_uc001fau.3_Silent_p.P323P	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	323	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aggggcagcctaagcatctgg	0.652000													6	145					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142606703	142606703	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr7:142606703G>A	uc003wby.1	-	13	2112	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	616					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R615C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597000													4	88					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:58385748G>A	uc002qqo.2	-	2	1282	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	337					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A337V(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353000													45	60					0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458294	45458294	+	RNA	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr12:45458294C>G	uc001rol.3	-	0		c.901G>C								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCAGGCACATCCCTCTGTTAC	0.458000													18	28					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835789	12835789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:12835789C>T	uc001aui.3	+	1	418	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	131										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTAAGAGACGAACAGCAGG	0.542000													46	71					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													33	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	C	rs28934573		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:7577559G>C	uc002gim.2	-	6	916	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TP53_uc002gig.1_Missense_Mutation_p.S241C|TP53_uc002gih.3_Missense_Mutation_p.S241C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109C|TP53_uc010cnf.1_Missense_Mutation_p.S109C|TP53_uc002gii.1_Missense_Mutation_p.S109C|TP53_uc010cni.1_Missense_Mutation_p.S241C|TP53_uc010cnh.1_Missense_Mutation_p.S241C|TP53_uc002gij.2_Missense_Mutation_p.S241C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148C|TP53_uc002gio.2_Missense_Mutation_p.S109C|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			57	18					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027153	119027153	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:119027153G>T	uc001pvs.3	+	6	1137	c.801G>T	c.(799-801)atG>atT	p.M267I	ABCG4_uc009zar.3_Missense_Mutation_p.M267I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	267	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTTTGAGATGTTTGACAAGG	0.577000													97	79					4.52927e-60	5.24678e-60	1	1	0
TAAR9	134860	broad.mit.edu	37	6	132859485	132859485	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:132859485C>T	uc011eci.2	+	0	59	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	19						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AGAACGTGAACGAATCCTGCA	0.458000													5	175					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1094686	1094686	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:1094686C>T	uc001lsx.1	+	32	5789	c.5762C>T	c.(5761-5763)aCg>aTg	p.T1921M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1997						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCGGTACCACGACCGGGTCA	0.637000													56	88					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75923415	75923415	+	Silent	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr13:75923415C>A	uc001vjl.1	-	4	1646	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	TBC1D4_uc010aer.2_Silent_p.L433L|TBC1D4_uc010aes.2_Silent_p.L433L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	433	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGGCCTGTTTCAGAGTCAGCA	0.473000													22	19					2.52088e-20	2.79397e-20	1	1	0
RAPH1	65059	broad.mit.edu	37	2	204304798	204304798	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:204304798C>G	uc002vad.3	-	13	3340	c.3115G>C	c.(3115-3117)Gga>Cga	p.G1039R		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1039					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGAGAACTCCAGGAAGGTTG	0.552000													21	48					0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610299	76610299	+	RNA	SNP	A	A	G	rs62473743	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:76610299A>G	uc011kgn.1	+	0		c.161A>G			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CTGGCCCTGTATCAGGCCGCT	0.672000													3	79					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139707076	139707076	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr8:139707076C>T	uc003yvd.3	-	32	3086	c.2639G>A	c.(2638-2640)gGg>gAg	p.G880E	COL22A1_uc011ljo.2_Missense_Mutation_p.G180E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	880	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCGGTTCCCCAGGCAGGCC	0.602000										HNSCC(7;0.00092)			34	41					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072714	220072714	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:220072714C>T	uc002vka.3	+	3	560	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	ZFAND2B_uc010zkt.2_Silent_p.L130L|ZFAND2B_uc010fwd.1_Silent_p.L130L|ZFAND2B_uc002vjz.1_Silent_p.L130L|ZFAND2B_uc002vkb.1_Silent_p.L21L	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	130						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGCATCCACTGGACCATGA	0.552000													82	33					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514314	69514314	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:69514314C>T	uc001opf.3	-	2	829	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	123					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			ATCTCCTCCTCGAAAGCACAG	0.562000													4	84					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128065	152128065	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:152128065C>T	uc001ezs.1	-	2	1575	c.1510G>A	c.(1510-1512)Gga>Aga	p.G504R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	504	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGCCTTGTCCGTCTGGCTGA	0.502000													7	230					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74716659	74716659	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:74716659G>T	uc002fdb.2	-	5	1287	c.846C>A	c.(844-846)gtC>gtA	p.V282V	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	282	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						AGTACTCCATGACAATGGAGA	0.572000													74	50					7.63117e-38	8.67475e-38	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35275620	35275620	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr15:35275620T>A	uc001ziw.3	-	2	370	c.16A>T	c.(16-18)Aat>Tat	p.N6Y	ZNF770_uc021siy.1_Missense_Mutation_p.N6Y	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTTTTAAATTGTTTTCAGCC	0.313000													21	30					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139235873	139235873	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr6:139235873G>T	uc003qii.3	-	14	2325	c.1746C>A	c.(1744-1746)gcC>gcA	p.A582A	REPS1_uc003qig.4_Silent_p.A555A|REPS1_uc011edr.2_Silent_p.A581A|REPS1_uc003qij.3_Silent_p.A491A|REPS1_uc003qik.3_Silent_p.A188A	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	582	Pro-rich.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CAGGAGGATGGGCAACAACTC	0.398000													27	28					1.99505e-19	2.17493e-19	1	1	0
NSRP1	84081	broad.mit.edu	37	17	28512533	28512533	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:28512533G>T	uc002heu.3	+	6	1546	c.1518G>T	c.(1516-1518)ggG>ggT	p.G506G	NSRP1_uc002hev.3_Silent_p.G452G|NSRP1_uc010wbl.2_Silent_p.G452G|NSRP1_uc010wbm.2_Silent_p.G452G|NSRP1_uc002hex.3_Silent_p.G452G	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	506					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGAGGAAGGGCAAGAGAAGG	0.433000													75	60					2.60632e-51	2.98828e-51	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1241763	1241763	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:1241763A>T	uc002qwq.3	+	9	952	c.823A>T	c.(823-825)Aac>Tac	p.N275Y	SNTG2_uc010ewi.3_Missense_Mutation_p.N148Y	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	275					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGTCTCAGCCAACATCAGGGA	0.547000													21	13					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113540317	113540317	+	Silent	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:113540317G>T	uc002tig.3	-	2	1032	c.72C>A	c.(70-72)tcC>tcA	p.S24S		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	24					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GATGATCAATGGAGGAACTGT	0.373000													23	80					3.85864e-22	4.3126e-22	1	1	0
RTL1	388015	broad.mit.edu	37	14	101347482	101347482	+	Missense_Mutation	SNP	C	C	T	rs61993318	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:101347482C>T	uc010txj.1	-	0	3703	c.3644G>A	c.(3643-3645)cGt>cAt	p.R1215H	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	1215								p.R1215H(2)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCGGTTCTGACGCAGGGCAGG	0.627000													56	108					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178567002	178567002	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr5:178567002G>A	uc003mjw.3	-	10	1766	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	555	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGGATGTCAGGTGTCAGCCA	0.607000													46	107					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491125	64491125	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:64491125G>C	uc010ssp.1	+	14	1839	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	SRGAP1_uc001srv.2_Missense_Mutation_p.E532Q	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	595	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTTCCTAAGGAAAGATTTAA	0.398000													12	22					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173454563	173454563	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:173454563A>G	uc001giy.1	+	2	367	c.316A>G	c.(316-318)Agg>Ggg	p.R106G		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	106	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	p.D105G(1)|p.R106M(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CATCGATGATAGGAATCGGGA	0.453000													36	49					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053588	65053588	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:65053588G>A	uc001xhl.1	+	8	798	c.702G>A	c.(700-702)aaG>aaA	p.K234K	PPP1R36_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	234																	AAGACTGGAAGTTCTTTGAGG	0.353000													10	32					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27958146	27958146	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:27958146T>C	uc002heo.1	-	14	3985	c.3985A>G	c.(3985-3987)Aca>Gca	p.T1329A	SSH2_uc010wbh.1_Missense_Mutation_p.T1356A	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1329					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTGTTGTTGTGAGTTGT	0.532000													27	82					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384826	108384826	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:108384826C>T	uc001pkk.3	-	5	1519	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	EXPH5_uc010rvz.2_Missense_Mutation_p.G314R|EXPH5_uc010rvy.2_Missense_Mutation_p.G282R	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	470					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCTGTTCTCCGCTTCGTCCA	0.433000													24	68					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195506692	195506692	+	Missense_Mutation	SNP	C	C	G	rs142466346	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr3:195506692C>G	uc021xjp.1	-	1	11915	c.11759G>C	c.(11758-11760)cGt>cCt	p.R3920P	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	694					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGACGGGTGGTGTC	0.587000													12	637					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355167	114355167	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:114355167A>G	uc002tkh.3	+	3	602	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GCTGCGCAGCATgaaggagcg	0.662000													14	74					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100865	85100865	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:85100865A>C	uc002fiu.3	+	1	408	c.188A>C	c.(187-189)cAc>cCc	p.H63P	KIAA0513_uc010voj.2_Missense_Mutation_p.H63P|KIAA0513_uc002fit.3_Missense_Mutation_p.H63P	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	63						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TCGCCCTCGCACCCGTCCTGG	0.627000													6	116					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019255	39019255	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr19:39019255A>T	uc002oit.3	+	74	11084	c.10954A>T	c.(10954-10956)Atg>Ttg	p.M3652L	RYR1_uc002oiu.3_Missense_Mutation_p.M3647L|RYR1_uc002oiv.1_Missense_Mutation_p.M567L|RYR1_uc010xuf.1_Missense_Mutation_p.M572L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3652					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCATGTAACATGTTCCTGGA	0.612000													67	111					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26901111	26901111	+	Missense_Mutation	SNP	C	C	T	rs145665688	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:26901111C>T	uc002hbp.3	-	6	918	c.773G>A	c.(772-774)cGt>cAt	p.R258H	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	258					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.R258H(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACAGTGCGACGCAGGGCAGT	0.602000													106	84					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447729	63447729	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:63447729G>A	uc001xfx.3	-	5	854	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNH5_uc001xfy.3_Missense_Mutation_p.T268M|KCNH5_uc001xfz.1_Missense_Mutation_p.T210M|KCNH5_uc001xga.3_Missense_Mutation_p.T210M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	268					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T268T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACGAAAGTCGTGTGAAAATT	0.423000													35	41					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725867	15725867	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:15725867G>C	uc003stc.3	-	0	442	c.161C>G	c.(160-162)cCc>cGc	p.P54R		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	54					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CTCTTCGTTGGGGTATCCCGC	0.572000													31	101					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669246	122669246	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:122669246T>C	uc009zxm.3	+	1	356	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	111										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGAGAGAATTGGCCATCCG	0.592000													71	95					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520587	23520587	+	Silent	SNP	G	G	A	rs77590981	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:23520587G>A	uc001bgn.3	-	0	636	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	42					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAAGGACCACGGCAAGGGAGA	0.577000													44	66					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929467	32929467	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr15:32929467T>C	uc001zgy.1	+	11	3215	c.2493T>C	c.(2491-2493)ctT>ctC	p.L831L	ARHGAP11A_uc010ubw.1_Silent_p.L642L|ARHGAP11A_uc010ubx.1_Silent_p.L642L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	831					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTCACCTCTTAAGTTTCAGC	0.388000													41	48					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812937	131812937	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:131812937G>A	uc002tsd.3	-	4	612	c.383C>T	c.(382-384)cCt>cTt	p.P128L		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	128										endometrium(3)|lung(2)	5						CACCGTTGCAGGCATGCCGTT	0.622000													128	74					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035313	141035313	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr5:141035313G>C	uc003llm.3	-	30	4063	c.3985C>G	c.(3985-3987)Cag>Gag	p.Q1329E	ARAP3_uc003lll.3_Missense_Mutation_p.Q280E|ARAP3_uc011dbe.2_Missense_Mutation_p.Q991E|ARAP3_uc003lln.3_Missense_Mutation_p.Q1160E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1329					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACCACTGGCTGCTGGTCATCG	0.617000													49	120					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													3	47					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129766960	129766960	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr6:129766960C>T	uc021zfb.1	+	44	6528	c.6423C>T	c.(6421-6423)gcC>gcT	p.A2141A	LAMA2_uc003qbn.3_Silent_p.A2139A|LAMA2_uc003qbo.3_Silent_p.A2139A	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2141	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAACAAGCCAATTCTGTAA	0.368000													14	20					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201719790	201719790	+	Silent	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:201719790T>G	uc002uwe.2	-	9	1258	c.1077A>C	c.(1075-1077)ccA>ccC	p.P359P	CLK1_uc010zhi.1_Silent_p.P401P|CLK1_uc002uwf.2_Silent_p.P133P|CLK1_uc002uwg.2_Silent_p.P208P	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	359	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGACATCACATGGTTGGGACC	0.348000													7	243					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17907127	17907127	+	Splice_Site	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:17907127G>T	uc001ban.3	+	2	196	c.37_splice	c.e2+1	p.G13_splice	ARHGEF10L_uc009vpe.1_Splice_Site_p.G13_splice|ARHGEF10L_uc001bao.3_Splice_Site_p.G13_splice|ARHGEF10L_uc001bap.3_Splice_Site_p.G13_splice	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	13					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCTGCCATAGGTACCGTACC	0.622000													24	42					7.01153e-11	7.34279e-11	1	1	0
VWA5B1	127731	broad.mit.edu	37	1	20662938	20662938	+	Missense_Mutation	SNP	A	A	G	rs10916769	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:20662938A>G	uc009vps.2	+	12	2097	c.1901A>G	c.(1900-1902)aAa>aGa	p.K634R	VWA5B1_uc001bdd.2_Missense_Mutation_p.K341R|VWA5B1_uc010odc.1_Missense_Mutation_p.K529R|VWA5B1_uc001bde.3_Non-coding_Transcript|VWA5B1_uc009vpt.2_Missense_Mutation_p.K110R	NM_001039500	NP_001034589	Q5TIE3	VW5B1_HUMAN	Homo sapiens von Willebrand factor A domain containing 5B1 (VWA5B1), mRNA.	634			K -> R (in dbSNP:rs10916769).			extracellular region				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						GGGCAGGCCAAAAATGCCCGG	0.572000													4	173					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148995	73148995	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr4:73148995C>T	uc003hgk.2	-	21	3513	c.3476G>A	c.(3475-3477)aGt>aAt	p.S1159N		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1159					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGCTGAACTGAGGTGGAC	0.498000													42	86					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57908473	57908473	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr19:57908473C>T	uc002qon.3	+	2	359	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	ZNF548_uc002qom.3_Missense_Mutation_p.L25F|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGGGCACCTTGATGAGGC	0.512000													95	156					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19640278	19640278	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr19:19640278G>T	uc002nmt.2	+	1	237	c.165G>T	c.(163-165)caG>caT	p.Q55H	YJEFN3_uc021uqv.1_Missense_Mutation_p.Q177H|YJEFN3_uc021uqw.1_Intron|YJEFN3_uc010ecf.2_Intron|YJEFN3_uc002nmu.2_Intron	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	55										NS(1)|breast(1)|lung(3)	5						GGGGAAGGCAGTCATGGCTAG	0.577000													28	107					1.36161e-19	1.49665e-19	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144397926	144397926	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr8:144397926G>C	uc003yxz.3	-	11	1543	c.1524C>G	c.(1522-1524)caC>caG	p.H508Q	TOP1MT_uc011lkd.2_Missense_Mutation_p.H410Q|TOP1MT_uc011lke.2_Missense_Mutation_p.H410Q|TOP1MT_uc011lkf.2_Missense_Mutation_p.H303Q	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	508					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTTGGGCTTTGTGCTCAGCCC	0.662000													27	33					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195514356	195514356	+	Silent	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr3:195514356A>G	uc021xjp.1	-	1	4251	c.4095T>C	c.(4093-4095)gaT>gaC	p.D1365D	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	856	AMOP.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGCATCAGTGACAT	0.572000													4	76					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506352	11506352	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:11506352G>T	uc001qzw.1	-	3	719	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	290	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGGGGCTGGTTGCCTCCT	0.602000													3	35					1	1	1	1	0
TMCO7	79613	broad.mit.edu	37	16	68941414	68941414	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:68941414G>T	uc002ewi.4	+	9	1748	c.1736G>T	c.(1735-1737)gGg>gTg	p.G579V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	579						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GAGCATCTCGGGGACTTGCTG	0.488000													31	75					1.00001e-27	1.12713e-27	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18975517	18975517	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:18975517C>T	uc003sui.3	+	21	2930	c.2889C>T	c.(2887-2889)gcC>gcT	p.A963A	HDAC9_uc003sue.3_Silent_p.A960A|HDAC9_uc003suh.3_Silent_p.A960A|HDAC9_uc003suj.3_Silent_p.A919A|HDAC9_uc003suk.3_Silent_p.A208A	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	960	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTCACAGCCATCTGTGATG	0.433000													39	112					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23728992	23728992	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:23728992C>G	uc003swo.4	+	2	433	c.344C>G	c.(343-345)cCc>cGc	p.P115R	FAM221A_uc003swq.4_Missense_Mutation_p.P115R|FAM221A_uc003swr.4_Missense_Mutation_p.P57R|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	115																	CTTTATGTCCCCTTGAATGGT	0.493000													21	65					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846267	20846267	+	Silent	SNP	G	G	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:20846267G>C	uc001vxe.3	-	38	5677	c.5637C>G	c.(5635-5637)gcC>gcG	p.A1879A	TEP1_uc010ahk.3_Silent_p.A1222A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.A1771A|TEP1_uc010tlh.1_Silent_p.A217A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1879					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCAGGGAAGGCAGCCAGCC	0.632000													31	59					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435382	18435382	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:18435382G>A	uc001rdt.3	+	1	483	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E123K|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	123					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.K122Q(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACGAATAAAGAATGCTCCTG	0.398000													5	27					0	0	1	0	0
DUSP3	1845	broad.mit.edu	37	17	41846983	41846983	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:41846983T>G	uc002ied.4	-	2	628	c.552A>C	c.(550-552)aaA>aaC	p.K184N	DUSP3_uc021tya.1_Non-coding_Transcript|DUSP3_uc002iee.4_3'UTR	NM_004090	NP_004081	P51452	DUS3_HUMAN	Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA.	184					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		TGCCCTAGGGTTTCAACTTCC	0.607000													6	66					0	0	1	0	0
C20orf62	140834	broad.mit.edu	37	20	43090810	43090810	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr20:43090810G>A	uc002xmb.3	-	1	293	c.228C>T	c.(226-228)aaC>aaT	p.N76N						RecName: Full=Uncharacterized protein C20orf62;											lung(1)	1						AGGTGACACCGTTTGGACTAA	0.502000													18	45					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3747716	3747716	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:3747716G>A	uc001aky.2	-	12	2089	c.1730C>T	c.(1729-1731)gCa>gTa	p.A577V	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	577						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGAAGAGTTTGCTTTCAATGG	0.473000													76	35					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350525	100350525	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:100350525G>A	uc003uwj.3	+	13	2962	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	ZAN_uc003uwk.3_Missense_Mutation_p.E933K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	933	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCACTGAAGAGACTACCAT	0.517000													6	103					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138649177	138649177	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr9:138649177C>G	uc011mdq.2	+	8	783	c.709C>G	c.(709-711)Ccc>Gcc	p.P237A	KCNT1_uc011mdr.2_Missense_Mutation_p.P64A|KCNT1_uc010nbf.3_Missense_Mutation_p.P189A|KCNT1_uc004cgo.1_5'UTR	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	237						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGTTCATCCCCGTCTTTCT	0.667000													16	30					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241762	1241762	+	Silent	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:1241762C>A	uc002qwq.3	+	9	951	c.822C>A	c.(820-822)gcC>gcA	p.A274A	SNTG2_uc010ewi.3_Silent_p.A147A	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	274					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGGTCTCAGCCAACATCAGGG	0.552000													23	13					3.1745e-13	3.35086e-13	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118451949	118451949	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr5:118451949A>T	uc010jcl.1	+	6	842	c.661A>T	c.(661-663)Att>Ttt	p.I221F	DMXL1_uc003ksd.2_Missense_Mutation_p.I221F|DMXL1_uc021ycw.1_Missense_Mutation_p.I48F|DMXL1_uc003ksc.1_Missense_Mutation_p.I221F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	221			I -> M (in dbSNP:rs7700801).							breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCAAGGAGAAATTGACTTTTC	0.403000													18	57					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169686	207169686	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:207169686A>G	uc002vbp.2	+	4	684	c.434A>G	c.(433-435)cAg>cGg	p.Q145R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	145							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGAAGGGACAGCAGCAGCCC	0.423000													3	71					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	C	G	rs148702086	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000													11	116					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63537709	63537709	+	Silent	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:63537709A>T	uc011kdm.2	+	3	461	c.282A>T	c.(280-282)tcA>tcT	p.S94S		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TAAACGATTCATTTCAAAAAG	0.378000													15	55					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676808	100676808	+	Missense_Mutation	SNP	A	A	G	rs71517134		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:100676808A>G	uc003uxp.1	+	2	2164	c.2111A>G	c.(2110-2112)gAg>gGg	p.E704G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	704	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)					GCCAGTTCTGAGGCTAGCACC	0.502000													46	153					0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631515	76631515	+	RNA	SNP	G	G	A	rs61737189	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:76631515G>A	uc011kgn.1	+	3		c.656G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.A7A(1)									TGTCCGCAGCGTCTGGATACA	0.617000													27	168					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918079	50918079	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr19:50918079T>A	uc010eny.3	+	18	2475	c.2474T>A	c.(2473-2475)tTc>tAc	p.F825Y	POLD1_uc002psb.4_Missense_Mutation_p.F799Y|POLD1_uc002psc.4_Missense_Mutation_p.F799Y|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	799					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CAGGTCTACTTCCCATACCTG	0.642000								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	43					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1630298	1630298	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:1630298C>T	uc002ftj.2	+	0	2174	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGGGCTCCTCCAGTCAAGCG	0.607000													26	9					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71779166	71779166	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:71779166T>G	uc010cgg.3	-	18	2194	c.1880A>C	c.(1879-1881)gAt>gCt	p.D627A	AP1G1_uc021tkz.1_Missense_Mutation_p.D415A|AP1G1_uc002fbb.3_Missense_Mutation_p.D650A|AP1G1_uc002faz.3_Missense_Mutation_p.D44A|AP1G1_uc021tky.1_Missense_Mutation_p.D630A	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	627					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCCAATAAATCATTGGCCTA	0.358000													52	27					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104432588	104432588	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr8:104432588A>C	uc003yln.3	+	1	900	c.623A>C	c.(622-624)aAa>aCa	p.K208T	DCAF13_uc003ylm.1_Intron	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	56					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTATTTGCAAAACCATTCCTT	0.453000													37	66					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473812	31473812	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:31473812G>A	uc010vfn.2	+	4	1353	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	ARMC5_uc010vfo.2_Missense_Mutation_p.R347Q|ARMC5_uc002ecc.3_Missense_Mutation_p.R315Q|ARMC5_uc002eca.4_Missense_Mutation_p.R315Q|ARMC5_uc002ecb.2_Missense_Mutation_p.R315Q|ARMC5_uc010vfp.2_Intron	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	315							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGCCTGATTCGGCCTGCACTG	0.652000													24	31					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988556	61988556	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:61988556T>A	uc002jda.1	-	0	63	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	CSHL1_uc002jcz.1_Missense_Mutation_p.M1L|CSHL1_uc002jdb.1_5'UTR|CSHL1_uc002jdc.1_Missense_Mutation_p.M1L|CSHL1_uc002jdd.1_Missense_Mutation_p.M1L|CSHL1_uc021ubn.1_5'Flank	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	1						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCTGCAGCCATTGCCGCTAGG	0.622000													286	239					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347236	48347236	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:48347236C>T	uc010rhv.2	+	0	744	c.744C>T	c.(742-744)taC>taT	p.Y248Y		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATCCTGTACTCCTTGAGGT	0.493000													26	199					0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236176	40236176	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:40236176A>C	uc001ceb.1	-	0	845	c.752T>G	c.(751-753)gTg>gGg	p.V251G	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	251					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GAAAGCCCCCACCTCCACGAT	0.532000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	88					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26597328	26597328	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr6:26597328A>T	uc003nii.3	+	0	158	c.118A>T	c.(118-120)Aag>Tag	p.K40*		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	40					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CTGTGGCAGCAAGAAACGGGT	0.627000													58	87					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764048	92764048	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:92764048A>T	uc003umh.1	-	4	2453	c.1237T>A	c.(1237-1239)Tac>Aac	p.Y413N	SAMD9L_uc003umj.1_Missense_Mutation_p.Y413N|SAMD9L_uc003umi.1_Missense_Mutation_p.Y413N|SAMD9L_uc010lfb.1_Missense_Mutation_p.Y413N|SAMD9L_uc003umk.1_Missense_Mutation_p.Y413N|SAMD9L_uc010lfc.1_Missense_Mutation_p.Y413N|SAMD9L_uc010lfd.1_Missense_Mutation_p.Y413N|SAMD9L_uc022ahh.1_Missense_Mutation_p.Y413N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	413										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTCATAGTATGAATTATCC	0.358000													5	17					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789010	67789010	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:67789010G>T	uc010rpy.2	+	7	732	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	ALDH3B1_uc001omz.3_Missense_Mutation_p.V206F|ALDH3B1_uc001ona.3_Missense_Mutation_p.V170F|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	207					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CCTGACACCTGTCACCCTGGA	0.622000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	113					0.00448238	0.00451634	1	1	0
CHST5	23563	broad.mit.edu	37	16	75564065	75564065	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:75564065G>A	uc002fej.1	-	4	557	c.236C>T	c.(235-237)tCg>tTg	p.S79L	CHST5_uc002fei.3_Missense_Mutation_p.S73L|CHST5_uc021tlk.1_Missense_Mutation_p.S73L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	73					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGATGAGCCCGAGCGCCACGA	0.667000													31	45					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55570036	55570036	+	Silent	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr4:55570036C>G	uc010igr.3	+	4	990	c.903C>G	c.(901-903)gtC>gtG	p.V301V	KIT_uc010igs.3_Silent_p.V301V	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	301	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAAATGTCACAACAACCT	0.348000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				47	77					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92953019	92953019	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:92953019A>T	uc003umo.3	+	20	2080	c.1952A>T	c.(1951-1953)tAt>tTt	p.Y651F	CCDC132_uc003ump.3_Missense_Mutation_p.Y621F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.Y371F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	651										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATGCAATATATACCTTTTTT	0.279000													6	18					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335495	124335495	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:124335495G>A	uc001uft.4	+	33	5834	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1937	AAA 1 (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)		CATGAACCCCGGCTACGCAGG	0.582000													41	32					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225422463	225422463	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:225422463T>G	uc010fwy.1	-	1	248	c.195A>C	c.(193-195)agA>agC	p.R65S	CUL3_uc010zls.1_Intron|CUL3_uc002vny.2_Missense_Mutation_p.R59S	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	59					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TATATGCATTTCTATAGAGCT	0.338000													18	8					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509696	125509696	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:125509696G>T	uc001uha.1	+	2	619	c.476G>T	c.(475-477)tGg>tTg	p.W159L	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	159						integral to membrane|mitochondrial outer membrane		p.W159S(2)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGCTTCTTCTGGATCGTGCGG	0.622000													31	36					1.30998e-17	1.41649e-17	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357347	118357347	+	Silent	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr10:118357347T>C	uc001lco.1	+	6	600	c.582T>C	c.(580-582)gaT>gaC	p.D194D	PNLIPRP1_uc001lcp.2_Silent_p.D194D|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	194					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TAGGGTTGGATCCTGTAGAAG	0.507000													43	70					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15316542	15316542	+	RNA	SNP	G	G	T	rs12953331		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr18:15316542G>T	uc002ktd.1	-	4		c.492C>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		gaacagagaagctgaacatac	0.378000													3	37					3.09899e-07	3.1463e-07	1	1	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	C	T	rs61737188	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:76631555C>T	uc011kgn.1	+	3		c.696C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.P21S(1)									GGCAATCGGGCCCCTGGCTGT	0.607000													12	157					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42289163	42289163	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr22:42289163C>A	uc003bbi.3	+	11	2420	c.2251C>A	c.(2251-2253)Cac>Aac	p.H751N	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.	751					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						TGGCCCCGAGCACAGTGCTGT	0.612000													31	33					3.3946e-10	3.49986e-10	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114487016	114487016	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:114487016A>C	uc002tku.1	-	10	1466	c.1052T>G	c.(1051-1053)gTa>gGa	p.V351G	SLC35F5_uc002tkt.3_Non-coding_Transcript	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	351					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTCTCTATCTACTTTTCTCTT	0.348000													66	35					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869309	36869309	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr20:36869309C>A	uc002xhy.1	-	2	1496	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	KIAA1755_uc002xhz.1_Missense_Mutation_p.E408D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	408										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCACCATATTCTCTGGGTTTC	0.577000													19	23					1.96292e-10	2.0396e-10	1	1	0
CYP27B1	1594	broad.mit.edu	37	12	58158227	58158227	+	Missense_Mutation	SNP	G	G	A	rs142446425		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:58158227G>A	uc001spz.1	-	5	1222	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	CYP27B1_uc001sqa.1_Missense_Mutation_p.A122V|CYP27B1_uc001sqb.1_3'UTR|CYP27B1_uc001sqc.1_3'UTR	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	357					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TGAGGGGTAGGCACTGGAGCC	0.597000													42	57					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031889	33031889	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:33031889G>A	uc001rlj.4	-	1	416	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	PKP2_uc001rlk.4_Missense_Mutation_p.R101C|PKP2_uc010skj.2_Missense_Mutation_p.R101C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGGGGAACGGCCTCCAACA	0.378000													4	48					0	0	1	0	0
CXorf64	100130613	broad.mit.edu	37	X	125955414	125955414	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chrX:125955414T>A	uc010nra.3	+	1	873	c.793T>A	c.(793-795)Ttt>Att	p.F265I		NM_001122716	NP_001116188	B1ATL7	CX064_HUMAN	Homo sapiens chromosome X open reading frame 64 (CXorf64), mRNA.	265	Pro-rich.																GCCTCTTCCTTTTGCTCCTCC	0.488000													43	11					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr20:42199308T>C	uc002xkv.3	+	5	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_uc002xkr.3_Missense_Mutation_p.F138L|SGK2_uc010ggm.3_Missense_Mutation_p.F138L|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.F138L	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	198	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627000													11	39					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52700004	52700004	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:52700004A>G	uc010snq.2	+	7	1320	c.1187A>G	c.(1186-1188)aAg>aGg	p.K396R	KRT86_uc009zmg.3_Missense_Mutation_p.K396R|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.K396R	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	396	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.S395S(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGAACTCCAAGCTGGGCCTG	0.637000											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	87					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156633	21156633	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr16:21156633G>A	uc010vbe.2	-	2	317	c.317C>T	c.(316-318)cCc>cTc	p.P106L	DNAH3_uc002die.2_Missense_Mutation_p.P77L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	106	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G105E(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)		GGAATCACTGGGTCCACGGTG	0.542000													91	248					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40586008	40586008	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chrX:40586008T>C	uc004dex.4	-	2	478	c.338A>G	c.(337-339)gAa>gGa	p.E113G	MED14_uc010nhe.1_5'UTR	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	113					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			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCACATTTTTCCACTTTGCC	0.328000													3	46					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	135					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974677	16974677	+	RNA	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:16974677C>T	uc010och.2	+	6		c.1137C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GTTGTACAGACGACGTGCGGC	0.697000													4	62					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195513530	195513530	+	Missense_Mutation	SNP	A	A	C	rs75544927		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr3:195513530A>C	uc021xjp.1	-	1	5077	c.4921T>G	c.(4921-4923)Tta>Gta	p.L1641V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	425	VWFD.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.N1637_T1652delNASSLSTGHATPLHVT(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATAATGAGGAAGCA	0.572000													10	556					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	A	C	rs151151026	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000													18	324					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525076	9525076	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr20:9525076C>T	uc002wnl.2	-	8	2354	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	PAK7_uc002wnk.2_Silent_p.L603L|PAK7_uc002wnj.2_Silent_p.L603L|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	603	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGTGCCAACCAATGATTTCC	0.478000													23	50					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835789	12835789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:12835789C>T	uc001aui.3	+	1	418	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	131										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTAAGAGACGAACAGCAGG	0.542000													46	71					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600607	232600607	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:232600607C>G	uc001hvg.3	-	6	2957	c.2799G>C	c.(2797-2799)agG>agC	p.R933S	SIPA1L2_uc001hvf.3_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	933					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I932I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAACAATTTCCCTGATGTCTT	0.408000													29	43					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525075	9525075	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr20:9525075C>A	uc002wnl.2	-	8	2355	c.1810G>T	c.(1810-1812)Gtt>Ttt	p.V604F	PAK7_uc002wnk.2_Missense_Mutation_p.V604F|PAK7_uc002wnj.2_Missense_Mutation_p.V604F|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	604	Protein kinase.		V -> I (in a metastatic melanoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity	p.V604I(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAGTGCCAACCAATGATTTC	0.478000													24	49					1.39806e-14	1.48753e-14	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769063	31769063	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr19:31769063C>T	uc002nsy.4	-	1	1701	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGGGATAGCCCCCCCAGCTA	0.557000													64	79					0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	123911	123911	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chrGL000209.1:123911G>A	uc010yie.2	+	4	720	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.E234K|KIR2DL2_uc002qum.3_Missense_Mutation_p.E237K	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	237					regulation of immune response	integral to membrane|plasma membrane	receptor activity										ACCAAGCTCCGAAACCGGTGA	0.502000													3	51					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883242	152883242	+	Silent	SNP	T	T	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:152883242T>G	uc021ozl.1	+	0	969	c.969T>G	c.(967-969)ccT>ccG	p.P323P	IVL_uc001fau.3_Silent_p.P323P	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	323	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aggggcagcctaagcatctgg	0.652000													6	145					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:1643049A>C	uc009ycy.1	-	1	257	c.170T>G	c.(169-171)gTc>gGc	p.V57G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	152	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682000													4	19					0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24520160	24520160	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:24520160A>C	uc010alc.3	+	9	829	c.829A>C	c.(829-831)Acc>Ccc	p.T277P	DHRS4_uc021rrd.1_Missense_Mutation_p.T146P|DHRS4_uc010tnu.2_Non-coding_Transcript|DHRS4_uc021rrg.1_Non-coding_Transcript|DHRS4_uc021rrh.1_Non-coding_Transcript|DHRS4_uc021rri.1_Non-coding_Transcript|DHRS4_uc021rrj.1_Non-coding_Transcript|LRRC16B_uc001wlj.2_5'Flank	NM_001082488	NP_001075957	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 1 (DHRS4L1), mRNA.	274						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGGTGGAGGAACCCCGTCCCG	0.597000													6	71					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142606703	142606703	+	Silent	SNP	G	G	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr7:142606703G>A	uc003wby.1	-	13	2112	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	616					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R615C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597000													4	88					0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458294	45458294	+	RNA	SNP	C	C	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:45458294C>G	uc001rol.3	-	0		c.901G>C								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCAGGCACATCCCTCTGTTAC	0.458000													18	28					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	C	rs28934573		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:7577559G>C	uc002gim.2	-	6	916	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TP53_uc002gig.1_Missense_Mutation_p.S241C|TP53_uc002gih.3_Missense_Mutation_p.S241C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109C|TP53_uc010cnf.1_Missense_Mutation_p.S109C|TP53_uc002gii.1_Missense_Mutation_p.S109C|TP53_uc010cni.1_Missense_Mutation_p.S241C|TP53_uc010cnh.1_Missense_Mutation_p.S241C|TP53_uc002gij.2_Missense_Mutation_p.S241C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148C|TP53_uc002gio.2_Missense_Mutation_p.S109C|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			57	18					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027153	119027153	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:119027153G>T	uc001pvs.3	+	6	1137	c.801G>T	c.(799-801)atG>atT	p.M267I	ABCG4_uc009zar.3_Missense_Mutation_p.M267I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	267	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTTTGAGATGTTTGACAAGG	0.577000													97	79					4.52927e-60	5.2382e-60	1	1	0
TAAR9	134860	broad.mit.edu	37	6	132859485	132859485	+	Silent	SNP	C	C	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr6:132859485C>T	uc011eci.2	+	0	59	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	19						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AGAACGTGAACGAATCCTGCA	0.458000													5	175					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150256865	150256882	+	In_Frame_Del	DEL	ATGGACAGGATCCAGCGT	ATGGACAGGATCCAGCGT	-	rs137955605	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:150256865_150256882delATGGACAGGATCCAGCGT	uc001euj.3	+	2	921_938	c.472_489delATGGACAGGATCCAGCGT	c.(472-489)atggacaggatccagcgtdel	p.MDRIQR158del	C1orf51_uc001euh.3_In_Frame_Del_p.MDRIQR158del|C1orf51_uc001eui.3_In_Frame_Del_p.MDRIQR70del	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	158								p.R163H(2)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGTGGCAATGGACAGGATCCAGCGTATTGTAGGTG	0.459													27	146	---	---	---	---					
PRUNE	58497	broad.mit.edu	37	1	151001408	151001408	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr1:151001408delA	uc001ewh.1	+	6	1057	c.921delA	c.(919-921)gcafs	p.A307fs	PRUNE_uc001ewi.1_Frame_Shift_Del_p.A125fs|PRUNE_uc010pco.1_Frame_Shift_Del_p.A75fs|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_Intron	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	307						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCATGTGGCACTCCAAACAA	0.502													43	72	---	---	---	---					
COL21A1	81578	broad.mit.edu	37	6	55925556	55925557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr6:55925556_55925557insA	uc003pcs.3	-	26	2621_2622	c.2389_2390insT	c.(2389-2391)tgcfs	p.C797fs	COL21A1_uc010jzz.3_Frame_Shift_Ins_p.C182fs|COL21A1_uc011dxg.2_Frame_Shift_Ins_p.C170fs|COL21A1_uc011dxh.2_Frame_Shift_Ins_p.C182fs|COL21A1_uc003pcr.3_Frame_Shift_Ins_p.C154fs	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	797					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACATCTGTGCAAACTTGTCGA	0.297													14	32	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64973409	64973409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr10:64973409delG	uc001jmn.3	-	7	2818	c.2518delC	c.(2518-2520)cagfs	p.Q840fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.Q621fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.Q552fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.Q658fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.Q658fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Frame_Shift_Del_p.Q552fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	840					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAGGTGACTGGTGCTGTAAC	0.473													7	313	---	---	---	---					
MUC5B	727897	broad.mit.edu	37	11	1271547	1271547	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:1271547delA	uc001lta.3	+	30	13496	c.13437delA	c.(13435-13437)ccafs	p.P4479fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4479	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGCACCCCACATGTGAGCA	0.647													7	633	---	---	---	---					
MRGPRX3	117195	broad.mit.edu	37	11	18159591	18159591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:18159591delG	uc021qek.1	+	0	842	c.842delG	c.(841-843)cgtfs	p.R281fs	MRGPRX3_uc001mnu.3_Frame_Shift_Del_p.R281fs	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	281				R -> L (in Ref. 2; AAL86879).		integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q280R(1)|p.R281C(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTAGGCAGCGTCAAAATAGG	0.517													26	39	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	uc001oqt.1	+	0	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)insGGCTGTGGCTCCGGCTGTGGG	p.29_30insGCGSGCG		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	29						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													17	65	---	---	---	---					
GALC	2581	broad.mit.edu	37	14	88454869	88454870	+	Splice_Site	INS	-	-	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:88454869_88454870insA	uc001xvt.3	-	2	303	c.196_splice	c.e2-1	p.A66_splice	GALC_uc010tvy.2_Intron|GALC_uc010tvx.2_Splice_Site_p.A40_splice|GALC_uc010tvz.1_Splice_Site_p.A10_splice|GALC_uc001xvu.2_Splice_Site_p.A66_splice	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	66					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGGTTGCCTAAAAAAAAAAG	0.351													18	20	---	---	---	---					
RIN3	79890	broad.mit.edu	37	14	93117951	93117952	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:93117951_93117952insT	uc001yap.3	+	5	709_710	c.557_558insT	c.(556-558)cctfs	p.P186fs	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Frame_Shift_Ins_p.P111fs|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	186					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCGCTGAATCCTCCACAAGAAA	0.629													24	16	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350131	101350136	+	In_Frame_Del	DEL	TCGTTG	TCGTTG	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:101350131_101350136delTCGTTG	uc010txj.1	-	0	1049_1054	c.990_995delCAACGA	c.(988-996)ctcaacgag>ctg	p.NE331del	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	331										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCTGATCTCCTCGTTGAGCCCCTGGC	0.563													14	32	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350138	101350138	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr14:101350138delG	uc010txj.1	-	0	1047	c.988delC	c.(988-990)ctcfs	p.L330fs	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	330										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTCGTTGAGCCCCTGGCAC	0.572													14	31	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55931987	55931988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:55931987_55931988insC	uc002adg.3	-	12	2224_2225	c.2176_2177insG	c.(2176-2178)cacfs	p.H726fs		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	726	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)		ATAGAGATGGTGGGGTGGTGGT	0.455													18	116	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55931988	55931989	+	In_Frame_Ins	INS	-	-	GGTGGT			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr15:55931988_55931989insGGTGGT	uc002adg.3	-	12	2223_2224	c.2175_2176insACCACC	c.(2173-2178)insACCACC	p.725_726insTT		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	725	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)		TAGAGATGGTGGGGTGGTGGTG	0.455													18	117	---	---	---	---					
SAMD14	201191	broad.mit.edu	37	17	48191564	48191565	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr17:48191564_48191565delTG	uc002iqf.3	-	8	1311_1312	c.1012_1013delCA	c.(1012-1014)cagfs	p.Q338fs	SAMD14_uc002iqe.3_Frame_Shift_Del_p.Q93fs|SAMD14_uc002iqg.3_Frame_Shift_Del_p.Q310fs	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	310	SAM.							p.Q338P(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ATCTGAAGACTGAGACAGCGTG	0.624													58	162	---	---	---	---					
TPM4	7171	broad.mit.edu	37	19	16199862	16199862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	c57ad711-a7d0-472f-adf1-7ab186da971b	g.chr19:16199862delG	uc002ndi.2	+	5	689	c.571delG	c.(571-573)ggtfs	p.G191fs	TPM4_uc002ndj.2_Frame_Shift_Del_p.G155fs|TPM4_uc002ndk.1_Frame_Shift_Del_p.G65fs	NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	155					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CAGAAAATGTGGTGACCTGGA	0.428			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	52	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150256865	150256882	+	In_Frame_Del	DEL	ATGGACAGGATCCAGCGT	ATGGACAGGATCCAGCGT	-	rs137955605	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr1:150256865_150256882delATGGACAGGATCCAGCGT	uc001euj.3	+	2	921_938	c.472_489delATGGACAGGATCCAGCGT	c.(472-489)atggacaggatccagcgtdel	p.MDRIQR158del	C1orf51_uc001euh.3_In_Frame_Del_p.MDRIQR158del|C1orf51_uc001eui.3_In_Frame_Del_p.MDRIQR70del	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	158								p.R163H(2)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGTGGCAATGGACAGGATCCAGCGTATTGTAGGTG	0.459													27	146	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241658528	241658528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr2:241658528delG	uc010fzk.3	-	46	5356	c.5109delC	c.(5107-5109)cccfs	p.P1703fs	KIF1A_uc002vzy.3_Frame_Shift_Del_p.P1602fs|KIF1A_uc002vzw.3_Frame_Shift_Del_p.P263fs|KIF1A_uc002vzx.3_Frame_Shift_Del_p.P329fs	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1602					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGTAGGCATAGGGGCGCCGCA	0.622													173	115	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964	byFrequency	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr5:118525523_118525524insG	uc010jcl.1	+	28	7437_7438	c.7256_7257insG	c.(7255-7257)gcgfs	p.A2419fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.A2419fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.A2246fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2419										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421													9	588	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141334867	141334868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr5:141334867_141334868insA	uc003llx.3	-	0	3760_3761	c.2549_2550insT	c.(2548-2550)ttcfs	p.F850fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	850					neuron recognition	integral to plasma membrane	calcium ion binding	p.L849F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGATGGTTGAAAAGGAGGTT	0.629													87	70	---	---	---	---					
COL21A1	81578	broad.mit.edu	37	6	55925556	55925557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr6:55925556_55925557insA	uc003pcs.3	-	26	2621_2622	c.2389_2390insT	c.(2389-2391)tgcfs	p.C797fs	COL21A1_uc010jzz.3_Frame_Shift_Ins_p.C182fs|COL21A1_uc011dxg.2_Frame_Shift_Ins_p.C170fs|COL21A1_uc011dxh.2_Frame_Shift_Ins_p.C182fs|COL21A1_uc003pcr.3_Frame_Shift_Ins_p.C154fs	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	797					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACATCTGTGCAAACTTGTCGA	0.297													14	32	---	---	---	---					
ACTL7B	10880	broad.mit.edu	37	9	111617059	111617060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr9:111617059_111617060insC	uc004bdi.3	-	0	1216_1217	c.1151_1152insG	c.(1150-1152)ggtfs	p.G384fs		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	384						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.G383G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGATGGAACCGCCGGTCCA	0.653													9	152	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64973409	64973409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr10:64973409delG	uc001jmn.3	-	7	2818	c.2518delC	c.(2518-2520)cagfs	p.Q840fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.Q621fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.Q552fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.Q658fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.Q658fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Frame_Shift_Del_p.Q552fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	840					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAGGTGACTGGTGCTGTAAC	0.473													7	313	---	---	---	---					
BMPR1A	657	broad.mit.edu	37	10	88676994	88676995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr10:88676994_88676995insG	uc001kdy.3	+	8	1327_1328	c.779_780insG	c.(778-780)gtgfs	p.V260fs		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	260	Protein kinase.				BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAAGTGGCGGTGAAAGTATTCT	0.465			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				11	157	---	---	---	---					
MRGPRX3	117195	broad.mit.edu	37	11	18159591	18159591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:18159591delG	uc021qek.1	+	0	842	c.842delG	c.(841-843)cgtfs	p.R281fs	MRGPRX3_uc001mnu.3_Frame_Shift_Del_p.R281fs	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	281				R -> L (in Ref. 2; AAL86879).		integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q280R(1)|p.R281C(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTAGGCAGCGTCAAAATAGG	0.517													26	39	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr11:124745490_124745491insG	uc001qbc.3	+	14	2499_2500	c.2330_2331insG	c.(2329-2331)gtgfs	p.V777fs	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	777	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													7	193	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573309	+	RNA	DEL	G	G	-	rs66804813		TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr12:9573309delG	uc021qut.1	-	10		c.2089delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagCCCCCATGGA	0.582													22	17	---	---	---	---					
RIN3	79890	broad.mit.edu	37	14	93117951	93117952	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:93117951_93117952insT	uc001yap.3	+	5	709_710	c.557_558insT	c.(556-558)cctfs	p.P186fs	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Frame_Shift_Ins_p.P111fs|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	186					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCGCTGAATCCTCCACAAGAAA	0.629													24	16	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350131	101350136	+	In_Frame_Del	DEL	TCGTTG	TCGTTG	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:101350131_101350136delTCGTTG	uc010txj.1	-	0	1049_1054	c.990_995delCAACGA	c.(988-996)ctcaacgag>ctg	p.NE331del	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	331										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCTGATCTCCTCGTTGAGCCCCTGGC	0.563													14	32	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350138	101350138	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr14:101350138delG	uc010txj.1	-	0	1047	c.988delC	c.(988-990)ctcfs	p.L330fs	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	330										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTCGTTGAGCCCCTGGCAC	0.572													14	31	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55931987	55931988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr15:55931987_55931988insC	uc002adg.3	-	12	2224_2225	c.2176_2177insG	c.(2176-2178)cacfs	p.H726fs		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	726	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)		ATAGAGATGGTGGGGTGGTGGT	0.455													18	116	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55931988	55931989	+	In_Frame_Ins	INS	-	-	GGTGGT			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr15:55931988_55931989insGGTGGT	uc002adg.3	-	12	2223_2224	c.2175_2176insACCACC	c.(2173-2178)insACCACC	p.725_726insTT		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	725	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)		TAGAGATGGTGGGGTGGTGGTG	0.455													18	117	---	---	---	---					
SAMD14	201191	broad.mit.edu	37	17	48191564	48191565	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A4-A57E-01A-11D-A26P-10	TCGA-A4-A57E-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2deb8f9a-9e0a-46d1-bcb5-902db3b5c8ac	fdbbad9e-ef1a-46be-acac-10ee00c02a06	g.chr17:48191564_48191565delTG	uc002iqf.3	-	8	1311_1312	c.1012_1013delCA	c.(1012-1014)cagfs	p.Q338fs	SAMD14_uc002iqe.3_Frame_Shift_Del_p.Q93fs|SAMD14_uc002iqg.3_Frame_Shift_Del_p.Q310fs	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	310	SAM.							p.Q338P(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ATCTGAAGACTGAGACAGCGTG	0.624													58	162	---	---	---	---					
