Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM135B	51059	broad.mit.edu	37	8	139180256	139180256	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:139180256C>T	uc003yuy.3	-	11	1311	c.1140G>A	c.(1138-1140)cgG>cgA	p.R380R	FAM135B_uc003yux.3_Silent_p.R281R|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	380								p.R380Q(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCGAGTTCCGGATATCCA	0.602000										HNSCC(54;0.14)				104			20		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83866963	83866963	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:83866963T>C	uc011dyy.2	+	34	6900	c.6640T>C	c.(6640-6642)Ttt>Ctt	p.F2214L	DOPEY1_uc003pjs.1_Missense_Mutation_p.F2223L|DOPEY1_uc010kbl.1_Missense_Mutation_p.F2214L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2223					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTGTTCCTGTTTTTCAGAGT	0.388000														99			14		0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224822295	224822295	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:224822295C>T	uc002vnr.4	+	0	175	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	36					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAGGGATTCCGCGCCGCCTT	0.682000														46			19		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030179	40030179	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:40030179C>T	uc001cdl.2	-	9	2267	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	PABPC4_uc010oiv.1_Missense_Mutation_p.G457R|PABPC4_uc001cdm.2_Missense_Mutation_p.G457R	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	457					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACGAGGCCCAGACTGGCGT	0.542000														64			115		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766812	17766812	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:17766812G>A	uc021uqk.1	-	9	1205	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	388					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGCCACTGGGGCCTTGTCCTC	0.657000														6			4		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022871	76022871	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:76022871T>C	uc010kbe.3	-	5	3216	c.2686A>G	c.(2686-2688)Agt>Ggt	p.S896G	FILIP1_uc003phy.1_Missense_Mutation_p.S893G|FILIP1_uc003phz.3_Missense_Mutation_p.S794G|FILIP1_uc003pia.3_Missense_Mutation_p.S893G|FILIP1_uc003pib.1_Missense_Mutation_p.S645G	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	893										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGCCCTGGACTGGAATTTGTT	0.532000														120			32		0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939005	150939005	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150939005G>A	uc003wjs.3	-	6	836	c.735C>T	c.(733-735)gaC>gaT	p.D245D	SMARCD3_uc003wjt.3_Silent_p.D232D|SMARCD3_uc003wju.3_Silent_p.D232D|SMARCD3_uc011kvh.1_Silent_p.D245D|SMARCD3_uc010lqa.1_Silent_p.D245D	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	245					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACACTCAGGTCCCCAGGCC	0.637000														13			19		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687762	60687762	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:60687762C>T	uc002sae.1	-	3	2513	c.2285G>A	c.(2284-2286)aGa>aAa	p.R762K	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.R728K|BCL11A_uc002sad.1_Missense_Mutation_p.R610K|BCL11A_uc002saf.1_Missense_Mutation_p.R728K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	762					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGTGTGGCTTCTCCTGTGGAC	0.557000			T	IGH@	B-CLL									144			43		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226562	56226562	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:56226562G>A	uc002qly.3	-	5	2388	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	787						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGTCACAGGAGACAGAGGT	0.507000														47			10		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160894	52160894	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:52160894G>A	uc003jou.3	+	4	888	c.474G>A	c.(472-474)gtG>gtA	p.V158V	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	158					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCAAGTCGTGAATTCCATTG	0.393000														82			19		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102954760	102954760	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:102954760C>T	uc002tbu.1	+	1	307	c.36C>T	c.(34-36)ctC>ctT	p.L12L	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.L12L	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	12					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCACAATTCTCATGTATTCCA	0.308000														107			37		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43896935	43896935	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:43896935G>A	uc001zsf.3	-	19	4118	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F	STRC_uc010bdl.3_Missense_Mutation_p.S574F|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1347					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTGAGATGGGACAGCAGGAT	0.557000														79			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585327	82585327	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:82585327T>C	uc003uhx.2	-	4	5231	c.4942A>G	c.(4942-4944)Act>Gct	p.T1648A	PCLO_uc003uhv.2_Missense_Mutation_p.T1648A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1579					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGACTTTTAGTTTCTCTGTAT	0.393000														253			41		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121023744	121023744	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:121023744C>T	uc010rzo.2	+	11	4260	c.4260C>T	c.(4258-4260)atC>atT	p.I1420I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1420	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGCTGCATCCTGCCCCACA	0.612000														22			6		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733449	152733449	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:152733449C>T	uc001fal.1	+	1	1443	c.1385C>T	c.(1384-1386)cCa>cTa	p.P462L	KPRP_uc021ozf.1_Missense_Mutation_p.P462L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	462	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCACGTCCATGCCTGCAG	0.632000														120			81		0	0	1	0	0
ASIP	434	broad.mit.edu	37	20	32856836	32856836	+	Missense_Mutation	SNP	C	T	T	rs143170739		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:32856836C>T	uc002xah.1	+	2	272	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S		NM_001672	NP_001663	P42127	ASIP_HUMAN	Homo sapiens agouti signaling protein (ASIP), mRNA.	88					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						GCCCCGGACCCCCCTATCTGC	0.701000														15			4		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417713	70417713	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:70417713C>T	uc002lkw.3	-	8	1409	c.1125G>A	c.(1123-1125)agG>agA	p.R375R	NETO1_uc002lky.2_Silent_p.R375R	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	375					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGTCTGATTTCCTTTGGACAT	0.453000														87			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719166	13719166	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13719166G>A	uc003jfd.2	-	71	12366	c.12324C>T	c.(12322-12324)ttC>ttT	p.F4108F	DNAH5_uc003jfc.2_Silent_p.F276F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4108	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCATCCATGAAATCAAGTC	0.443000									Kartagener syndrome					67			15		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109773146	109773146	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:109773146C>T	uc004bcz.3	+	12	7645	c.7356C>T	c.(7354-7356)caC>caT	p.H2452H	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.H2361H|ZNF462_uc004bda.3_Silent_p.H2360H|ZNF462_uc011lvz.2_Silent_p.H409H|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2452			H -> L (in dbSNP:rs10217192).		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGAAATCCACCCAAAAGAGA	0.388000														42			4		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40702500	40702500	+	Splice_Site	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:40702500T>C	uc001rmg.4	+	29	4310	c.4189_splice	c.e29+2	p.G1397_splice	LRRK2_uc009zjw.3_Splice_Site_p.G235_splice|LRRK2_uc001rmi.3_Splice_Site_p.G230_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1397	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTTTGCAGGTATTTCTTTCT	0.368000														76			5		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052842	49052842	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:49052842C>T	uc003gyv.3	+	14	2179	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	CWH43_uc011bzl.2_Missense_Mutation_p.S639F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	666					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGAGAAGTTTCTGAGAAAATT	0.393000														45			19		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381927	108381927	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:108381927C>T	uc001pkk.3	-	5	4418	c.4307G>A	c.(4306-4308)gGa>gAa	p.G1436E	EXPH5_uc010rvz.2_Missense_Mutation_p.G1280E|EXPH5_uc010rvy.2_Missense_Mutation_p.G1248E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1436					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)		TTGGGAATTTCCAATATTAAC	0.398000														118			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141055537	141055537	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141055537C>T	uc002tvj.1	-	84	13778	c.12806_splice	c.e84-1	p.G4269_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4269	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTGGGTCTCCCTATTGGAA	0.398000										TSP Lung(27;0.18)				185			32		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40116370	40116370	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:40116370G>A	uc002xka.1	-	13	2114	c.1936C>T	c.(1936-1938)Cca>Tca	p.P646S	CHD6_uc002xkd.2_Missense_Mutation_p.P624S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	646	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AACTGTGATGGCTCCAGAAAA	0.438000														129			16		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736023	28736023	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:28736023G>A	uc002kwn.3	-	3	716	c.454C>T	c.(454-456)Cca>Tca	p.P152S	DSC1_uc002kwm.3_Missense_Mutation_p.P152S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	152	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACGTGTTGTGGAAATGGACCC	0.398000														62			18		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911458	130911458	+	Silent	SNP	G	A	A	rs13413763	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:130911458G>A	uc002tqq.2	-	16	2976	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	SMPD4_uc002tqo.2_Silent_p.S141S|SMPD4_uc002tqp.2_Silent_p.S348S|SMPD4_uc010yzy.2_Silent_p.S358S|SMPD4_uc010yzz.2_Silent_p.S273S|SMPD4_uc002tqs.2_Silent_p.S477S|SMPD4_uc002tqr.2_Silent_p.S580S|SMPD4_uc010zaa.2_Silent_p.S467S|SMPD4_uc010zab.2_Silent_p.S507S|SMPD4_uc002tqt.2_Silent_p.S458S|SMPD4_uc010zac.2_Silent_p.S350S|SMPD4_uc010zad.2_Silent_p.S245S	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	570					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTCGGAGATGGACTTGGCTG	0.632000														70			11		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168409	142168409	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:142168409G>A	uc011kry.1	-	1	480	c.314C>T	c.(313-315)tCg>tTg	p.S105L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ATACAGGGCCGAGTCGTCCAG	0.512000														185			16		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077734	53077734	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:53077734C>T	uc003xqz.2	-	6	1412	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	ST18_uc011ldq.1_Missense_Mutation_p.G66E|ST18_uc011ldr.1_Missense_Mutation_p.G384E|ST18_uc011lds.1_Missense_Mutation_p.G324E|ST18_uc003xra.2_Missense_Mutation_p.G419E|ST18_uc003xrb.2_Missense_Mutation_p.G419E	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	419						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGACCCCTTCCTGTGCATCC	0.408000														205			35		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:16266988C>T	uc010gqp.2	-	8	1513	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	487								p.R487K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000														270			20		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141528506	141528506	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141528506C>T	uc002tvj.1	-	33	6542	c.5570G>A	c.(5569-5571)aGg>aAg	p.R1857K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1857	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATACAAGTCCTTGTAGTTTC	0.373000										TSP Lung(27;0.18)				119			17		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887074	27887074	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:27887074C>T	uc002rlk.4	+	0	737	c.455C>T	c.(454-456)cCc>cTc	p.P152L	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	152						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GCCCGGGCTCCCCCCTACCAA	0.652000														93			16		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127686	117127686	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:117127686C>T	uc003pxj.1	-	2	1204	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.R394R	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	394					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACGAAGTTCCTTTCTATAG	0.443000														84			12		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159514625	159514625	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:159514625C>T	uc003ipz.3	+	2	523	c.260C>T	c.(259-261)cCt>cTt	p.P87L	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Missense_Mutation_p.P6L|RXFP1_uc010iqo.3_Missense_Mutation_p.P87L|RXFP1_uc011cjb.2_Missense_Mutation_p.P6L|RXFP1_uc011cjc.2_Missense_Mutation_p.P6L|RXFP1_uc011cjd.2_Missense_Mutation_p.P6L|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.P87L|RXFP1_uc010iqm.3_Intron|RXFP1_uc011cjf.2_Intron|RXFP1_uc010iqn.3_Missense_Mutation_p.P6L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	87						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCCCAATATCCTTTTGAGGCA	0.318000														34			14		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112761501	112761501	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:112761501G>A	uc002thk.1	+	12	1929	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	MERTK_uc002thl.1_Missense_Mutation_p.E427K	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	603	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTCTGTAATGGAAGGAAATCT	0.473000														124			16		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139789	40139789	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:40139789A>G	uc003ayg.3	-	6	1970	c.1719T>C	c.(1717-1719)ctT>ctC	p.L573L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	573										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGATGACATTAAGTTCTTGGA	0.428000														80			20		0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71671826	71671826	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:71671826C>T	uc001ora.3	+	2	472	c.132C>T	c.(130-132)caC>caT	p.H44H	RNF121_uc001ord.3_5'UTR|RNF121_uc001orb.3_Silent_p.H12H|RNF121_uc009yst.3_Silent_p.H12H	NM_018320	NP_060790	Q9H920	RN121_HUMAN	Homo sapiens ring finger protein 121 (RNF121), transcript variant 1, mRNA.	44						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						ATGCCAAGCACCGTGGCCATG	0.562000														116			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582476	179582476	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179582476G>A	uc021vsy.1	-	83	21618	c.21393C>T	c.(21391-21393)ttC>ttT	p.F7131F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F3792F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8058	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCAACTGGGAAGCCTAGAG	0.418000														47			14		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893038	76893038	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76893038G>A	uc001oyb.2	+	23	3218	c.2946G>A	c.(2944-2946)ctG>ctA	p.L982L	MYO7A_uc010rsl.2_Silent_p.L982L|MYO7A_uc010rsm.1_Silent_p.L971L|MYO7A_uc001oyc.2_Silent_p.L982L|MYO7A_uc001oyd.3_Silent_p.L322L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.L193L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	982					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGGACCTGGATGCAGCCC	0.602000														138			10		0	0	1	0	0
C2orf56	55471	broad.mit.edu	37	2	37475402	37475402	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:37475402G>A	uc002rqa.4	+	9	1310	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	C2orf56_uc002rqc.4_Missense_Mutation_p.R314K|C2orf56_uc010ynk.2_Missense_Mutation_p.R341K|C2orf56_uc010ynl.2_Missense_Mutation_p.R385K|C2orf56_uc010fah.3_Non-coding_Transcript	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	Homo sapiens chromosome 2 open reading frame 56 (C2orf56), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	412					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13		all_hematologic(82;0.21)				CCTCATCAGAGACTTCAAGGT	0.423000														115			47		0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357450	114357450	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:114357450G>A	uc010nqe.3	-	18	2004	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	LRCH2_uc004epz.3_Missense_Mutation_p.S641F	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	658	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTTAACCTGGATTCAAGATT	0.328000														35			5		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040990	147040990	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:147040990C>T	uc010jgo.1	-	1	296	c.148G>A	c.(148-150)Gag>Aag	p.E50K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E50K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E8K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E50K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	50						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTCTTCTCTCTTTCAAGC	0.498000														101			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235891	3235891	+	Missense_Mutation	SNP	G	A	A	rs137882293		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3235891G>A	uc004crg.4	-	5	5988	c.5831C>T	c.(5830-5832)tCg>tTg	p.S1944L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1944	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACGGTGACCGAAAGCAAGAC	0.552000														85			17		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57599031	57599031	+	Splice_Site	SNP	C	T	T	rs138595744		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:57599031C>T	uc001snd.3	+	73	11801	c.11335_splice	c.e73+1	p.D3779_splice		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3779					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTGCAGCATCGGTGAGGCCC	0.672000														91			10		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042492	74042492	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:74042492G>A	uc002sjr.1	+	2	1263	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	381										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCCTAATAGGAAATCAAGAT	0.458000														37			23		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156281454	156281454	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:156281454G>A	uc003ios.3	-	6	1180	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	MAP9_uc011cin.2_Nonsense_Mutation_p.Q281*|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Nonsense_Mutation_p.Q305*	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	306					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GCAGTCACTTGACTTTCCTTG	0.368000														110			22		0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186502861	186502861	+	Silent	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:186502861T>C	uc003fqs.3	+	3	358	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L	EIF4A2_uc003fqu.3_Silent_p.L108L|EIF4A2_uc003fqv.3_Intron|EIF4A2_uc003fqw.3_Intron|EIF4A2_uc011bsb.2_5'Flank|SNORA81_uc010hyv.2_5'Flank|SNORA63_uc010hyw.1_5'Flank|EIF4A2_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	107	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGCACTAGTATTGGCCCCCAC	0.453000			T	BCL6	NHL									213			53		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63667606	63667606	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:63667606G>A	uc011kdn.2	+	0	26	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GGACCCCCTGGAAGCCGAGAA	0.572000														82			11		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779421	31779421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:31779421C>T	uc001zfq.3	-	9	1419	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	OTUD7A_uc001zfr.3_Nonsense_Mutation_p.W449*	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	442	Catalytic (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGATCCGGATCCACGTCACGT	0.572000														49			18		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012422	140012422	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140012422G>A	uc003lgi.2	-	1	526	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CD14_uc003lgj.2_Silent_p.F49F|CD14_uc021yej.1_Silent_p.F49F|CD14_uc021yek.1_Silent_p.F49F|CD14_uc021yel.1_5'UTR	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	49					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACACTGGAAGGCTTCGG	0.597000														57			10		0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138824642	138824642	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:138824642G>A	uc003vus.2	+	3	355	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	TTC26_uc003vuq.2_Missense_Mutation_p.E81K|TTC26_uc011kqm.1_Missense_Mutation_p.E81K|TTC26_uc003vur.4_Missense_Mutation_p.E81K|TTC26_uc011kqn.1_Missense_Mutation_p.E81K|TTC26_uc011kqo.1_Missense_Mutation_p.E50K|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.E81K	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	81							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCAGGAATACGAAAATGCTAC	0.383000														72			7		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160124975	160124975	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160124975C>T	uc001fve.4	+	2	827	c.348C>T	c.(346-348)gcC>gcT	p.A116A	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	116					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACTGGGGCCATTCTCTGCT	0.507000														35			43		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637738	158637738	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158637738C>T	uc001fst.1	-	14	2147	c.1948G>A	c.(1948-1950)Ggt>Agt	p.G650S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	650					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGTGACCACCCTCAATCATC	0.468000														97			93		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360981	107360981	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:107360981G>A	uc011lvp.2	-	0	714	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCAGGTAGAGGAAGGTTTGC	0.413000														137			25		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543667	141543667	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:141543667G>A	uc010ioj.3	-	20	3755	c.3483C>T	c.(3481-3483)tcC>tcT	p.S1161S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1161						intracellular	Rab GTPase activator activity|calcium ion binding	p.S1160C(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGAGGACATGGAGCTGTCGT	0.632000														91			18		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109366	58109366	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:58109366G>C	uc003djj.2	+	20	3838	c.3673G>C	c.(3673-3675)Gcc>Ccc	p.A1225P	FLNB_uc010hne.2_Missense_Mutation_p.A1225P|FLNB_uc003djk.2_Missense_Mutation_p.A1225P|FLNB_uc010hnf.2_Missense_Mutation_p.A1225P|FLNB_uc003djl.2_Missense_Mutation_p.A1056P|FLNB_uc003djm.2_Missense_Mutation_p.A1056P	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1225	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTGGAGCCCGCCGTGGACAC	0.517000														102			26		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34647846	34647846	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:34647846G>A	uc010ucc.2	+	7	2019	c.1637G>A	c.(1636-1638)gGg>gAg	p.G546E	C15orf55_uc010ucd.2_Missense_Mutation_p.G536E|C15orf55_uc001zif.3_Missense_Mutation_p.G518E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	518						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CAGGGGGCTGGGGGCGCCGCT	0.587000			T	"""BRD3, BRD4"""	lethal midline carcinoma									114			40		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037323	220037323	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:220037323G>A	uc002vju.4	-	7	1370	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Silent_p.F406F	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	406					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CTGGGAAAACGAAAGACTTGA	0.542000														139			32		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903793	4903793	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4903793C>T	uc010qyp.2	+	0	745	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCTATGTCCTGATCCTCCG	0.433000														70			25		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800117	27800117	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:27800117G>A	uc002rkz.4	+	0	729	c.678G>A	c.(676-678)gaG>gaA	p.E226E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	226										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAACTCCAGAGAAAAGCTACC	0.448000														88			38		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952509	120952509	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:120952509C>T	uc003eec.4	+	11	1298	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	STXBP5L_uc011bji.2_Silent_p.L386L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	386					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAAGATCTCATTGTAGTTG	0.279000														50			9		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115454118	115454118	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:115454118G>A	uc001efr.3	+	17	1653	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E482K|SYCP1_uc009wgw.3_Missense_Mutation_p.E482K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	482					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGATTTGGAAATACAGTT	0.299000														19			15		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359740	101359740	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:101359740G>A	uc001pgk.4	-	3	1646	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRPC6_uc009ywy.3_Intron|TRPC6_uc009ywz.1_Intron	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	407					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGACCACAAGGAACTTGACCG	0.478000														122			11		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128384852	128384852	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:128384852C>T	uc002top.3	+	31	4402	c.4349C>T	c.(4348-4350)tCt>tTt	p.S1450F	MYO7B_uc002tor.1_Missense_Mutation_p.S303F	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1450	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGGAACTCTCTTTCCCAGAG	0.597000														25			9		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692178	116692178	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:116692178C>T	uc001pps.1	-	2	700	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGTAAGGCGTCCCTTGAGCTC	0.632000														334			49		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66949187	66949187	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:66949187G>A	uc002eql.3	-	5	713	c.519C>T	c.(517-519)gcC>gcT	p.A173A	CDH16_uc010cdy.3_Silent_p.A173A|CDH16_uc021tjx.1_Silent_p.A173A|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	173	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGGAAGGCTGGGCTGGAGCCT	0.647000														72			10		0	0	1	0	0
PPBP	5473	broad.mit.edu	37	4	74853792	74853792	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:74853792G>A	uc003hhj.3	-	0	116	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	10					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACTGTTACAGGAAGGGGTGGT	0.522000														116			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464105	50464105	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:50464105C>T	uc021vhh.1	-	16	4289	c.3368G>A	c.(3367-3369)gGg>gAg	p.G1123E	NRXN1_uc010fbp.3_Missense_Mutation_p.G88E|NRXN1_uc002rxb.4_Missense_Mutation_p.G795E|NRXN1_uc021vhg.1_Missense_Mutation_p.G1163E|NRXN1_uc021vhi.1_Missense_Mutation_p.G1159E|NRXN1_uc021vhj.1_Missense_Mutation_p.G1119E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1123					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATATGTCGTCCCAGCTGGAAA	0.403000														92			27		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772685	27772685	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:27772685C>T	uc001zbg.2	+	7	1226	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	324					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCGTGTGCTTCCTGTTTGTCT	0.557000														52			7		0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107147220	107147220	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:107147220G>A	uc004enl.3	+	3	1422	c.849G>A	c.(847-849)atG>atA	p.M283I	MID2_uc004enk.3_Missense_Mutation_p.M283I	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	283						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAAAACTTATGGAAGAATGTG	0.433000														78			16		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718808	108718808	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:108718808C>T	uc022cch.1	-	0	443	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.A120T	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	120					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AATCCTGAGGCCATCTGGTGG	0.493000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		385			73		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803421	20803421	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:20803421C>T	uc001reh.2	+	13	2852	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C	PDE3A_uc021qwa.1_Missense_Mutation_p.R616C	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	938	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D937H(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGAAAATGATCGTCTACTGGT	0.323000														46			30		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661749	40661749	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:40661749C>T	uc001zlk.1	+	7	3525	c.3436C>T	c.(3436-3438)Cgc>Tgc	p.R1146C		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1146					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAAGGCAGGCCGCCCACGACC	0.647000														91			12		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853581	23853581	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:23853581G>A	uc001uom.2	+	4	624	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	SGCG_uc009zzv.2_Missense_Mutation_p.E157K|SGCG_uc009zzw.2_Missense_Mutation_p.E157K	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	157					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATGAGAAGGAAGTTGTGGT	0.393000														45			6		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815907	56815907	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:56815907G>A	uc001slf.2	-	19	2675	c.2507C>T	c.(2506-2508)gCc>gTc	p.A836V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	836					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GTCCTTATTGGCGAGGTACAG	0.537000														104			29		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319138	70319138	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:70319138C>T	uc001oqc.3	-	21	5300	c.5188G>A	c.(5188-5190)Gaa>Aaa	p.E1730K	SHANK2_uc010rqn.2_Missense_Mutation_p.E1206K|SHANK2_uc001opz.3_Missense_Mutation_p.E1201K|BC127192_uc009ysn.1_Missense_Mutation_p.S13F|SHANK2_uc001opy.3_Missense_Mutation_p.E132K|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1417					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTAGACTTTCCAGCCAATCG	0.483000														293			49		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080596	42080596	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:42080596C>T	uc002yyq.1	-	1	597	c.145G>A	c.(145-147)Gca>Aca	p.A49T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	49	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGATGCCTGCTGCGGGGCAG	0.592000														171			28		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409047	4409047	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4409047G>A	uc001qmo.3	+	4	1047	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	248					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGCTTGCCAGGAGCAGATTGA	0.517000			T	IGL@	"""NHL,CLL"""									91			9		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32949635	32949635	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:32949635C>T	uc001mty.3	+	2	330	c.63C>T	c.(61-63)ctC>ctT	p.L21L	QSER1_uc001mtz.1_Silent_p.L21L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	21										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAACTACTCTCTTACCACAAT	0.413000														95			19		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346709	102346709	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:102346709C>T	uc010utr.2	+	0	787	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTTCCATTTCCCACATCACA	0.368000														100			22		0	0	1	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24382742	24382742	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:24382742C>T	uc011mjx.2	+	0	1865	c.1865C>T	c.(1864-1866)gCt>gTt	p.A622V		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						GGAGCCCAGGCTTTGGGGAGC	0.592000														42			6		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26312962	26312962	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:26312962C>T	uc001isn.2	+	8	1103	c.743C>T	c.(742-744)cCa>cTa	p.P248L	MYO3A_uc009xko.1_Missense_Mutation_p.P248L|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P248L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	248	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATCCACCCCCAAAACTAAGG	0.388000														103			23		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36775284	36775284	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:36775284C>T	uc002xhr.3	-	5	794	c.694G>A	c.(694-696)Gat>Aat	p.D232N	TGM2_uc010zvx.2_Missense_Mutation_p.D151N|TGM2_uc010zvy.2_Missense_Mutation_p.D172N|TGM2_uc002xhs.1_Missense_Mutation_p.D208N|TGM2_uc002xht.3_Missense_Mutation_p.D232N|TGM2_uc002xhu.3_Missense_Mutation_p.D232N	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	232					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCCTGGTCATCGTTGCAGTTG	0.657000														39			20		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17688074	17688074	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:17688074G>A	uc002zmk.1	-	1	641	c.429C>T	c.(427-429)atC>atT	p.I143I	CECR1_uc010gqu.1_Silent_p.I143I|CECR1_uc011agi.1_Silent_p.I101I|CECR1_uc011agj.1_Silent_p.I101I	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	143	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGAACTGCATGATCCCCCTTG	0.527000														130			18		0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482447	152482447	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:152482447G>A	uc022chs.1	-	0	564	c.564C>T	c.(562-564)atC>atT	p.I188I	MAGEA1_uc004fhf.2_Silent_p.I188I	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	188	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCATGATCTGATTAT	0.542000														176			64		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661284	176661284	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:176661284C>T	uc001gkz.3	+	5	3618	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	818					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACAACTTCACTCCTAACC	0.473000											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			90		0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95414916	95414916	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:95414916G>A	uc004asl.1	-	3	508	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	77					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GTAGCTGAACGACCTCCTGTA	0.363000														106			22		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509365	65509365	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:65509365C>T	uc003xvj.2	-	5	1559	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	452					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAAAAAATCGGCCTGGACA	0.343000														64			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586690	179586690	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179586690C>T	uc021vsy.1	-	74	19193	c.18968G>A	c.(18967-18969)gGa>gAa	p.G6323E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2984E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7250	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGTGTTTCCCACACATGT	0.428000														250			81		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106815992	106815992	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:106815992C>T	uc021ser.1	-	558		c.15735G>A								Parts of antibodies, mostly variable regions.																		CCACGCCTCCCCCAGACTCCA	0.557000														104			12		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75692404	75692404	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:75692404G>A	uc002bai.3	-	11	2090	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	SIN3A_uc002baj.3_Missense_Mutation_p.R611C|SIN3A_uc010uml.2_Missense_Mutation_p.R611C	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	611	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding	p.R611G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTTCACAACGATAAATATGT	0.438000														207			28		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72954801	72954801	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:72954801G>A	uc002jmj.4	-	9	1356	c.1207C>T	c.(1207-1209)Ctc>Ttc	p.L403F	C17orf28_uc010wrs.2_Missense_Mutation_p.L202F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	403						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGAAGAAGAGGATGGGGACA	0.612000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			8		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43585437	43585437	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:43585437C>T	uc002lbp.4	-	5	511	c.415G>A	c.(415-417)Gat>Aat	p.D139N	PSTPIP2_uc002lbq.4_Missense_Mutation_p.D139N	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	139						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGACTCACATCCATGGTTTTC	0.313000														8			3		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976804	106976804	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:106976804G>A	uc001kyi.1	+	18	2885	c.2658G>A	c.(2656-2658)gcG>gcA	p.A886A	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	886	PKD.					integral to membrane	neuropeptide receptor activity	p.A886V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATAAGAGTGCGGGGATCTTCC	0.527000														50			38		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616450	77616450	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:77616450G>A	uc003yau.2	+	1	514	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	ZFHX4_uc003yat.1_Missense_Mutation_p.E43K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E43K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTGACAGGGAAAACAGCTC	0.502000										HNSCC(33;0.089)				71			18		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590103	141590103	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:141590103C>T	uc010ioj.3	-	8	1828	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	519	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCACGCATGCTCTCCGGGAT	0.607000														43			9		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728174	20728174	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:20728174G>A	uc002npa.3	-	3	1015	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	279					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTATCTTA	0.413000														65			10		0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309706	37309706	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:37309706C>T	uc021utk.1	-	4	1969	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.A514T|ZNF790_uc021utl.1_Missense_Mutation_p.A514T|ZNF790_uc021utm.1_Missense_Mutation_p.A514T	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A514A(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGAGAAAGGCTTTTCCACAT	0.403000														104			39		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216099	55216099	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:55216099G>A	uc003pcm.1	+	4	505	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	140						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATGTGTAGGGGATGTGGTC	0.473000														263			37		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99681554	99681554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:99681554G>A	uc002szg.4	-	13	1880	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	TSGA10_uc002szh.4_Nonsense_Mutation_p.R418*|TSGA10_uc002szi.4_Nonsense_Mutation_p.R418*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R418*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	418					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGGCTTTTCGAAGTTGTTCC	0.363000														110			28		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783747	33783747	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:33783747G>A	uc002rox.3	+	17	2341	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	RASGRP3_uc010ync.2_Missense_Mutation_p.E572K|RASGRP3_uc002roy.3_Missense_Mutation_p.E571K	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	572					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCGCAGGATGAGGTGTTTGA	0.498000														50			28		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32030149	32030149	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:32030149G>A	uc003nzl.2	-	19	7155	c.6953C>T	c.(6952-6954)tCc>tTc	p.S2318F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2380	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTGAGGGAGTCAGGGGT	0.617000														29			6		0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452580	64452580	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:64452580T>A	uc011kdr.2	-	1	1419	c.825A>T	c.(823-825)ttA>ttT	p.L275F	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.L275F	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	275						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gttgggcgaataaattactgg	0.498000														112			17		0	0	1	0	0
SNORD114-31	767612	broad.mit.edu	37	14	101459613	101459613	+	RNA	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:101459613G>A	uc001yjv.3	+	0		c.41G>A								Homo sapiens small nucleolar RNA, C/D box 114-31 (SNORD114-31), small nucleolar RNA.																		AGTCATGGAGGATGAATACTA	0.363000														125			24		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929400	121929400	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:121929400G>A	uc004bkc.2	-	7	2704	c.2248C>T	c.(2248-2250)Ctc>Ttc	p.L750F		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	750					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTGTTTGAGGATCTCCGTG	0.502000														146			75		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51418793	51418793	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:51418793G>A	uc011bds.2	+	52	5919	c.5896G>A	c.(5896-5898)Gac>Aac	p.D1966N		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1966						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATCCCTCAGGACCCCATGGA	0.677000														95			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495927	179495927	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179495927C>T	uc021vsy.1	-	185	36369	c.36144G>A	c.(36142-36144)gtG>gtA	p.V12048V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.V5743V|TTN_uc021vta.1_Silent_p.V5676V|TTN_uc021vtb.1_Silent_p.V5551V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12975	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTCACTGGTGCAT	0.373000														34			10		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675200	167675200	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:167675200T>A	uc010jjd.3	+	26	7229	c.7229T>A	c.(7228-7230)cTg>cAg	p.L2410Q	ODZ2_uc003lzr.4_Missense_Mutation_p.L2180Q|ODZ2_uc003lzt.4_Missense_Mutation_p.L1783Q|ODZ2_uc010jje.3_Missense_Mutation_p.L1674Q	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TATGACCCCCTGACCAAGCTG	0.532000														99			22		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848075	7848075	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7848075G>A	uc001qte.3	-	0	286	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	84					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.L83V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGAAAGCGAAGTACATTC	0.483000														101			13		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995253	140995253	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:140995253C>T	uc004fbt.3	+	3	2387	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S347F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	688							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGATTCCCTGTCTCCT	0.572000										HNSCC(15;0.026)				113			56		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36363479	36363479	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36363479G>A	uc002oce.3	+	6	1083	c.945G>A	c.(943-945)atG>atA	p.M315I	APLP1_uc010xsz.2_Missense_Mutation_p.M276I|APLP1_uc002ocf.3_Missense_Mutation_p.M315I|APLP1_uc002ocg.3_Missense_Mutation_p.M218I|APLP1_uc010xta.2_Missense_Mutation_p.M309I	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	315	Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCCAAGATGGACCTGGAGG	0.557000														126			26		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905426	905426	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:905426C>T	uc010dkg.3	+	1	158	c.39C>T	c.(37-39)gtC>gtT	p.V13V	ADCYAP1_uc010dkh.3_Silent_p.V13V	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	13					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.V13V(2)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCCTGCTGGTCTATGGGATAA	0.637000														114			16		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55025540	55025540	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:55025540C>T	uc001sgi.1	-	3	375	c.337G>A	c.(337-339)Gga>Aga	p.G113R		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	113					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AATTGTTTTCCACCTGGCACG	0.473000														236			28		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108002	17108002	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:17108002G>A	uc002nfb.3	-	10	1187	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	338						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.P385S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCTCTGCACGGGGGTGGAGT	0.642000														43			9		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994771	994771	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:994771C>T	uc021qss.1	+	18	6224	c.5581C>T	c.(5581-5583)Cca>Tca	p.P1861S	WNK1_uc001qio.4_Missense_Mutation_p.P1601S|WNK1_uc021qst.1_Missense_Mutation_p.P1853S|WNK1_uc001qip.4_Missense_Mutation_p.P1354S|WNK1_uc001qir.4_Missense_Mutation_p.P774S	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1601					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCTAGTATCCCACCCTTGGT	0.488000														251			41		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815720	152815720	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:152815720G>A	uc004fht.1	+	9	1925	c.1799G>A	c.(1798-1800)gGg>gAg	p.G600E	ATP2B3_uc004fhs.1_Missense_Mutation_p.G600E	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	600					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGCAAGGGGGCCTCAGAG	0.547000														68			44		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726944	63726944	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:63726944C>T	uc003tsx.3	+	4	1202	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S310S(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTCATCCCTCACTTACCACA	0.423000														59			29		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166721	100166721	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:100166721C>T	uc001tge.2	-	7	1524	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.G335G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	369						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCATTTTTCCCAAGTTCTT	0.408000														68			5		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109535458	109535458	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:109535458C>T	uc010agk.2	+	12	2099	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	MYO16_uc001vqt.1_Missense_Mutation_p.P471S|MYO16_uc001vqu.1_Missense_Mutation_p.P271S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	471	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGCTGCCTCCTCACCTCTT	0.562000														248			36		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189579	62189579	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:62189579G>A	uc003dlb.3	+	11	2829	c.2110G>A	c.(2110-2112)Ggg>Agg	p.G704R	PTPRG_uc003dlc.3_Missense_Mutation_p.G704R	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	704					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R703R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATGTCCCGCGGGGACCGATT	0.542000														105			25		0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44573541	44573541	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:44573541C>T	uc002xqs.3	+	10	1354	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	PCIF1_uc002xqt.3_5'UTR	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	347						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CAGTGTGGCCCCCACGTCTCG	0.607000														47			4		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98353964	98353964	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:98353964G>A	uc002syd.1	+	10	1525	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	ZAP70_uc002sye.1_Missense_Mutation_p.E330K|ZAP70_uc002syf.1_Missense_Mutation_p.E133K	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	440	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAATGTGGCCGAGCTGCTGCA	0.617000														75			5		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135469994	135469994	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:135469994G>A	uc004ezu.1	+	15	8163	c.7872G>A	c.(7870-7872)acG>acA	p.T2624T	GPR112_uc010nsb.1_Silent_p.T2419T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2624					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTACAAACGATCTTGTTTA	0.398000														150			59		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777534	141777534	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141777534C>T	uc002tvj.1	-	11	2899	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	643					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGACATTTCACCCTCTAAA	0.373000										TSP Lung(27;0.18)				92			33		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721311	150721311	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150721311G>A	uc011kvc.2	-	0	276	c.200C>T	c.(199-201)tCc>tTc	p.S67F	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	67	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGGAGGGGAAAATGAGGA	0.632000														21			3		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105439016	105439016	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:105439016G>A	uc003dwc.3	-	9	1604	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	CBLB_uc011bhi.2_Missense_Mutation_p.P450S|CBLB_uc003dwd.2_Missense_Mutation_p.P428S|CBLB_uc003dwe.2_Missense_Mutation_p.P428S|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	428					NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCATCTCTTGGATCAAAGGGG	0.483000			Mis S		AML									37			18		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953166	70953166	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:70953166G>A	uc001swb.4	-	15	4047	c.4017C>T	c.(4015-4017)tcC>tcT	p.S1339S	PTPRB_uc010sto.2_Silent_p.S1249S|PTPRB_uc010stp.2_Silent_p.S1249S|PTPRB_uc001swc.4_Silent_p.S1557S|PTPRB_uc001swa.4_Silent_p.S1469S|PTPRB_uc001swd.4_Silent_p.S1556S|PTPRB_uc009zrr.2_Silent_p.S1436S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1339	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAGTTTTCCAGGAATCACCAC	0.403000														205			77		0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286268	79286268	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:79286268G>A	uc010nmg.1	+	8	1355	c.1221G>A	c.(1219-1221)atG>atA	p.M407I	TBX22_uc004edi.1_Missense_Mutation_p.M287I|TBX22_uc004edj.1_Missense_Mutation_p.M407I	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	407					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.M407L(1)|p.L406L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCCACTCATGATGGAAGTGC	0.443000														210			94		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182007	128182008	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:128182007_128182008GG>AA	uc003ekk.1	-	2	1742_1743	c.81_82CC>TT	c.(79-84)gccctt>gcTTtt	p.L28F	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.L28F	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	28	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGCCAACGAAGGGCCAGCTTGC	0.574000														248			33		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3664862	3664862	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:3664862G>A	uc002lyj.2	-	2	266	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PIP5K1C_uc010xhq.2_Silent_p.G59G|PIP5K1C_uc010xhr.2_Silent_p.G59G	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	59					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CACCTCGATGGCCCAACTTCT	0.632000														98			15		0	0	1	0	0
GJB7	375519	broad.mit.edu	37	6	87994566	87994566	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:87994566C>T	uc003plo.2	-	2	411	c.65G>A	c.(64-66)tGg>tAg	p.W22*	GJB7_uc021zcj.1_Nonsense_Mutation_p.W22*	NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	Homo sapiens gap junction protein, beta 7, 25kDa (GJB7), mRNA.	22					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CAGCCAAATCCATCCAGTCCC	0.468000														93			12		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264798	123264798	+	Silent	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:123264798T>C	uc003vku.1	+	7	919	c.627T>C	c.(625-627)ttT>ttC	p.F209F	ASB15_uc003vkv.1_Silent_p.F209F|ASB15_uc003vkw.1_Silent_p.F209F	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	209					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGATGGATTTGGAGTCACAC	0.488000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			15		0	0	1	0	0
UQCRH	7388	broad.mit.edu	37	1	46775949	46775949	+	Silent	SNP	G	A	A	rs148062188	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:46775949G>A	uc001cpp.3	+	2	263	c.204G>A	c.(202-204)acG>acA	p.T68T	UQCRH_uc001cpq.3_Non-coding_Transcript	NM_006004	NP_005995	P07919	QCR6_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase hinge protein (UQCRH), nuclear gene encoding mitochondrial protein, mRNA.	68					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity	p.T68M(1)		large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGATTGCACGGAGGAGCTCT	0.527000														181			8		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27423917	27423917	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:27423917G>A	uc010eyv.1	-	16	2035	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	SLC5A6_uc002rjd.3_Silent_p.S571S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	571					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	ACGGAAGGAGGGACAGGAGCT	0.577000														54			9		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133494345	133494345	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:133494345A>T	uc003epu.2	+	19	3484	c.1756A>T	c.(1756-1758)Acc>Tcc	p.T586S	TF_uc011blt.2_Missense_Mutation_p.T459S|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.T586S	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	586	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCTTGATGGTACCAGGAAACC	0.502000														242			34		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123102893	123102893	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123102893C>T	uc001ucv.3	+	57	6197	c.6034C>T	c.(6034-6036)Ccc>Tcc	p.P2012S	KNTC1_uc010taf.2_Missense_Mutation_p.P937S	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	2012					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCACAGGTTCCCTACTTCAG	0.443000														29			5		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582534	55582534	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:55582534T>C	uc010qhy.1	-	34	5368	c.4973A>G	c.(4972-4974)gAa>gGa	p.E1658G	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1653G|PCDH15_uc021pqz.1_Missense_Mutation_p.E1628G|PCDH15_uc010qhv.1_Missense_Mutation_p.E1648G|PCDH15_uc010qhw.1_Missense_Mutation_p.E1611G|PCDH15_uc010qhx.1_Missense_Mutation_p.E1582G|PCDH15_uc010qhz.1_Missense_Mutation_p.E1653G|PCDH15_uc010qia.1_Missense_Mutation_p.E1631G|PCDH15_uc001jju.1_Missense_Mutation_p.E1651G|PCDH15_uc010qib.1_Missense_Mutation_p.E1628G	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1651					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCAACTGTTCTGTTCCTTC	0.408000										HNSCC(58;0.16)				116			29		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:71275406C>T	uc003twb.4	-	5	964	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000														183			18		0	0	1	0	0
CSDA	8531	broad.mit.edu	37	12	10856686	10856686	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:10856686A>G	uc001qyt.3	-	6	1085	c.842T>C	c.(841-843)gTt>gCt	p.V281A	CSDA_uc001qyu.3_Missense_Mutation_p.V212A	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	281					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					ATTTCGATGAACCGGTCCCTG	0.507000														91			25		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444813	54444813	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:54444813C>T	uc002qcr.2	+	3	609	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	CACNG7_uc010era.2_Missense_Mutation_p.H172Y	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	172					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCAGTATTTTCATTATCGCTA	0.532000														116			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455005	179455005	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179455005G>A	uc021vsy.1	-	252	53968	c.53743C>T	c.(53743-53745)Cgt>Tgt	p.R17915C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11610C|TTN_uc021vta.1_Missense_Mutation_p.R11543C|TTN_uc021vtb.1_Missense_Mutation_p.R11418C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18842	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACATCACGACAAGTAACA	0.433000														160			23		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718274	103718274	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:103718274C>T	uc001vpy.4	-	0	923	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	109					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGAGGCAGTTCCTCCAGGGCA	0.507000														155			15		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49714371	49714371	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:49714371C>T	uc010hkw.1	+	9	1313	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	APEH_uc003cxf.3_Missense_Mutation_p.P305S	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	305					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTCTTCTCCCCGGCTGAG	0.587000														104			51		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500130	220500130	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:220500130C>T	uc002vmo.4	+	12	2174	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	SLC4A3_uc002vmp.4_Silent_p.F628F|SLC4A3_uc010fwm.3_Silent_p.F178F|SLC4A3_uc010fwn.1_Silent_p.F137F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	628					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCTGCTTTCCAGCGAGAGC	0.617000														71			24		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31919251	31919251	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31919251G>A	uc003nyj.4	+	16	2367	c.2089_splice	c.e16+1	p.G697_splice	CFB_uc011dor.2_Splice_Site_p.G1199_splice	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	697	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACTTGCAGAGGTGAGAGAATG	0.532000														223			64		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:133053841C>T	uc003ytg.2	-	2	227	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	OC90_uc011lix.1_Missense_Mutation_p.R92Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	92	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527000														55			9		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129198697	129198697	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:129198697C>T	uc003eml.3	+	13	1779	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	IFT122_uc003emm.3_Missense_Mutation_p.R474C|IFT122_uc003emn.3_Missense_Mutation_p.R415C|IFT122_uc003emo.3_Missense_Mutation_p.R363C|IFT122_uc003emp.3_Missense_Mutation_p.R324C|IFT122_uc010htc.3_Missense_Mutation_p.R466C|IFT122_uc011bky.2_Missense_Mutation_p.R265C|IFT122_uc011bla.2_Missense_Mutation_p.R265C|IFT122_uc003emr.3_Missense_Mutation_p.R265C|IFT122_uc011bkx.1_Missense_Mutation_p.R314C|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_5'Flank	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	474					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTCTCTCATTCGTTACATCAA	0.562000														101			16		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078759	27078759	+	Silent	SNP	A	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:27078759A>C	uc001mre.1	+	3	599	c.231A>C	c.(229-231)acA>acC	p.T77T	BBOX1_uc009yih.1_Silent_p.T77T|BBOX1_uc001mrg.1_Silent_p.T77T|BBOX1_uc021qfd.1_Silent_p.T77T	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	77					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGTACATCACATGGCCCGATG	0.388000														92			18		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369571	56369571	+	Missense_Mutation	SNP	C	T	T	rs147621156		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:56369571C>T	uc002qmd.4	+	2	1234	c.812C>T	c.(811-813)cCg>cTg	p.P271L	NLRP4_uc002qmf.3_Missense_Mutation_p.P196L|NLRP4_uc010etf.3_Missense_Mutation_p.P102L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	271	NACHT.						ATP binding	p.P271L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGATGCTCCCGGAGGCCTCC	0.582000														77			39		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188012	140188012	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140188012G>A	uc003lhi.2	+	0	1341	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.D414N|PCDHAC2_uc011daa.2_Missense_Mutation_p.D414N	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	428	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D414Y(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCCCTGGACCGCGAGAG	0.617000														195			31		0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93684979	93684979	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:93684979C>T	uc001ybm.4	+	6	944	c.708C>T	c.(706-708)ctC>ctT	p.L236L	UBR7_uc001ybn.4_Silent_p.L160L|UBR7_uc010auq.3_Silent_p.L85L	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 7 (putative) (UBR7), transcript variant 2, mRNA.	236							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATAGTACCCTCAAAGAGGATG	0.448000														95			16		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176710809	176710809	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:176710809C>T	uc003mfr.4	+	19	6169	c.6031C>T	c.(6031-6033)Ccc>Tcc	p.P2011S	NSD1_uc003mft.4_Missense_Mutation_p.P1742S|NSD1_uc011dfx.2_Missense_Mutation_p.P1659S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2011	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGATGCTGGTCCCAAAGGAAA	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				114			24		0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55035750	55035750	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:55035750C>T	uc004dua.4	-	10	1765	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	ALAS2_uc004dub.4_Missense_Mutation_p.V530M|ALAS2_uc004dud.4_Missense_Mutation_p.V506M	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	543					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGCAGCCCCACCGCAGTCCAA	0.542000														10			6		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501792	28501792	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:28501792G>A	uc003nll.2	+	4	516	c.514G>A	c.(514-516)Gac>Aac	p.D172N	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	172					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TATATCCTGGGACCCTGTAAA	0.493000														147			85		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953426	8953426	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:8953426C>T	uc002mko.2	+	0	158	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	24	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCTTGAGCACCTCAATCCCTT	0.448000														62			7		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123344339	123344339	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123344339C>T	uc001udj.1	+	23	2486	c.2427C>T	c.(2425-2427)cgC>cgT	p.R809R	HIP1R_uc001udk.1_Silent_p.R74R	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	809	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCAGGCACGCCACGCCAGCT	0.677000														47			40		0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89790379	89790379	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:89790379C>A	uc003ujx.3	+	2	545	c.345C>A	c.(343-345)aaC>aaA	p.N115K	STEAP1_uc010lem.3_Missense_Mutation_p.N115K	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	115					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TGGTCATCAACAAAGTCTTGC	0.388000														135			14		1.3612e-06	1.36899e-06	1	1	0
VCX	26609	broad.mit.edu	37	X	7811962	7811962	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:7811962C>T	uc004crz.3	+	2	745	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	176	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCACTGAGTCAGGAGAGCGA	0.582000														353			14		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242614	126242614	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126242614T>C	uc003ifj.4	+	0	5048	c.5048T>C	c.(5047-5049)aTt>aCt	p.I1683T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1683	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCTTTACTATTGGACGACAT	0.448000														208			31		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448053	24448053	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:24448053C>T	uc001biq.2	-	6	1170	c.967G>A	c.(967-969)Gag>Aag	p.E323K	IL22RA1_uc010oeg.1_Missense_Mutation_p.E255K|IL22RA1_uc009vrb.2_Missense_Mutation_p.E187K|IL22RA1_uc010oeh.2_Missense_Mutation_p.E323K	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	323						integral to membrane	interferon receptor activity	p.S322S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TAGGTGATCTCGGACAGGCTA	0.642000														106			6		0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91502983	91502983	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:91502983A>G	uc003ulc.1	-	2	1201	c.1125T>C	c.(1123-1125)acT>acC	p.T375T	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Silent_p.T355T|MTERF_uc010leu.1_Silent_p.T355T	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	375					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TGATGTTTAAAGTACTCAAGT	0.323000														37			52		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203807618	203807618	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:203807618C>T	uc002uzo.2	+	3	514	c.234C>T	c.(232-234)ttC>ttT	p.F78F	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Silent_p.F78F|ALS2CR8_uc010zhy.1_Silent_p.F78F|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Intron|ALS2CR8_uc010zib.1_Intron|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Silent_p.F78F	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	78										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CAGAGCAATTCCATCTAGTGG	0.413000														127			25		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169325	138169325	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:138169325C>T	uc002tva.1	+	12	2749	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.R807*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGCCTCACCGAGGACTGCG	0.483000														138			35		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706738	189706738	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:189706738G>A	uc011bsk.2	-	3	1301	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	LEPREL1_uc003fsg.3_Missense_Mutation_p.L124F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	305					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCAGAGGAAGAAAATTCTCG	0.493000														138			46		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489529	149489529	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:149489529C>T	uc010lpk.3	+	36	5673	c.5673C>T	c.(5671-5673)gaC>gaT	p.D1891D		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1894	EGF-like 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCAAGACGGACGGCCCC	0.697000														30			3		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895174	36895174	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:36895174G>A	uc022abv.1	-	21	2876	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	ELMO1_uc003tfi.2_Silent_p.F242F|ELMO1_uc003tfj.2_Silent_p.F242F|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.F626F|ELMO1_uc003tfk.2_Silent_p.F722F|ELMO1_uc010kxg.2_Silent_p.F722F	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	722					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGTCATAGACGAAGTCATAGT	0.542000														111			39		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432914	111432914	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:111432914C>T	uc003dya.3	+	2	1375	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PLCXD2_uc003dxz.3_Missense_Mutation_p.P269S	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	269					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GATCCTCACCCCCAGAGTGAA	0.537000														65			30		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762039	96762039	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:96762039T>A	uc003htr.4	+	0	801	c.738T>A	c.(736-738)ttT>ttA	p.F246L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	246					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGGGCAATTTTATCCCTGGGC	0.443000														72			37		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894560	166894560	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166894560C>T	uc002udo.4	-	16	2899	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	SCN1A_uc010fpk.3_Missense_Mutation_p.G863E|SCN1A_uc021vsb.1_Missense_Mutation_p.G880E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	891						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTAAATTTCCCAGAGCCCC	0.443000														93			33		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78506102	78506102	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:78506102G>T	uc004akc.2	+	0	543	c.5G>T	c.(4-6)gGc>gTc	p.G2V	PCSK5_uc004ajy.2_Missense_Mutation_p.G2V|PCSK5_uc004ajz.3_Missense_Mutation_p.G2V|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	2				G -> D (in Ref. 1; AAC50643).	anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGACCATGGGCTGGGGGAGC	0.726000														17			11		3.86212e-05	3.87787e-05	1	1	0
CDK8	1024	broad.mit.edu	37	13	26959389	26959389	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:26959389C>T	uc001uqr.1	+	5	579	c.556C>T	c.(556-558)Cct>Tct	p.P186S	CDK8_uc001uqs.1_Missense_Mutation_p.P186S|CDK8_uc001uqt.1_Missense_Mutation_p.P13S	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	186	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		ACCTTTGAAGCCTTTAGCAGA	0.363000														65			8		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850750	207850750	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:207850750G>A	uc001hga.4	+	1	235	c.114G>A	c.(112-114)ccG>ccA	p.P38P	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	38	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAATGTCCCGGAATGGCTTC	0.398000														72			75		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569605	76569605	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:76569605G>A	uc002fex.1	+	16	3067	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	CNTNAP4_uc002feu.1_Silent_p.G972G|CNTNAP4_uc002fev.1_Silent_p.G837G|CNTNAP4_uc010chb.1_Silent_p.G900G	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	973	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCAATGGAGGGAAATGCAGAG	0.498000														31			5		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:33560122C>T	uc001rll.1	-	2	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_uc009zju.1_Missense_Mutation_p.E37K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000														90			22		0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33799159	33799159	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:33799159C>T	uc003ztj.4	+	4	947	c.896C>T	c.(895-897)aCc>aTc	p.T299I	PRSS3_uc003zti.4_Missense_Mutation_p.T256I|PRSS3_uc022bfu.1_Missense_Mutation_p.T235I|PRSS3_uc003ztl.4_Missense_Mutation_p.T242I	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	299	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ATTAAGGACACCATCGCTGCC	0.562000														131			15		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500616	90500616	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:90500616C>T	uc004app.4	+	3	1249	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	FAM75E1_uc004apo.1_Missense_Mutation_p.P217L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	405						integral to membrane											ACCCTAAATCCCTTCTGGAAC	0.562000														91			13		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44945382	44945382	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:44945382C>T	uc003coc.4	+	8	1051	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	326					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.F326L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCAGGAATTTCCATGTGTGGA	0.592000														166			41		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572699	38572699	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:38572699C>T	uc002ohk.3	+	2	1003	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	165					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTCCTCCCCCTTCGGCAC	0.716000														70			21		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689011	43689011	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:43689011C>T	uc002ovu.3	-	1	484	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G118E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	118	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTGTAGGATCCTGCGTCTTC	0.448000														507			92		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095241	130095241	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130095241G>A	uc010htj.1	+	2	723	c.229G>A	c.(229-231)Gag>Aag	p.E77K	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	77	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTACAGCGACGAGTTTCACAG	0.483000														41			18		0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870954	61870954	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:61870954C>T	uc002yej.3	+	5	1067	c.894C>T	c.(892-894)tcC>tcT	p.S298S	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Silent_p.S280S	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	298					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCTTCCTGTCCTAGGCCAGGT	0.731000														16			7		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351714	123351714	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123351714C>T	uc001udl.3	-	3	910	c.807G>A	c.(805-807)caG>caA	p.Q269Q		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	269	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCGGGGGTCTCTGAGGGAGAG	0.672000														20			14		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113039	234113039	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:234113039C>T	uc010zmo.2	+	24	3309	c.3156C>T	c.(3154-3156)ccC>ccT	p.P1052P	INPP5D_uc010zmp.2_Silent_p.P1051P	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1081	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCCCGCGCCCCGGCTGCGCT	0.726000														33			4		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686829	85686829	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:85686829G>A	uc003yct.4	+	2	445	c.311G>A	c.(310-312)gGa>gAa	p.G104E	RALYL_uc003ycq.4_Missense_Mutation_p.G91E|RALYL_uc003ycr.4_Missense_Mutation_p.G91E|RALYL_uc003ycs.4_Missense_Mutation_p.G91E|RALYL_uc010lzy.3_Missense_Mutation_p.G91E|RALYL_uc003ycu.4_Missense_Mutation_p.G18E	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	91							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AACATGGCAGGAGAGCCCAAA	0.338000														13			4		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044895	43044895	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:43044895C>T	uc001zqo.2	-	13	2988	c.2549G>A	c.(2548-2550)gGa>gAa	p.G850E	TTBK2_uc010bcy.2_Missense_Mutation_p.G781E	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	850					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTGAAGTTCCAACTGTCAG	0.378000														115			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414358	41414358	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:41414358G>A	uc002yyq.1	-	31	6078	c.5626C>T	c.(5626-5628)Ccc>Tcc	p.P1876S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1876					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGGTTTGGGGGGAGATGCA	0.567000														114			11		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890456	215890456	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:215890456G>A	uc002vew.3	-	10	1448	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	ABCA12_uc002vev.3_Missense_Mutation_p.L92F|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	410					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCATTGCGAAGAAAAGATTTT	0.323000														54			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545809	82545809	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:82545809A>G	uc003uhx.2	-	6	11782	c.11493T>C	c.(11491-11493)cgT>cgC	p.R3831R	PCLO_uc003uhv.2_Silent_p.R3831R|PCLO_uc010lec.3_Silent_p.R796R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACATGTAATCACGATCCTCAG	0.468000														223			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068203	9068203	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9068203C>T	uc002mkp.3	-	2	19447	c.19243G>A	c.(19243-19245)Gaa>Aaa	p.E6415K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6417	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGGCTTTTCAGTGCCTTGG	0.493000														150			38		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78734856	78734856	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:78734856C>T	uc003kfy.3	-	4	1607	c.504G>A	c.(502-504)caG>caA	p.Q168Q	HOMER1_uc010jab.3_Silent_p.Q168Q|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	168					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GCAATGCATTCTGAGTTGGTT	0.393000														98			19		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558793	228558793	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:228558793G>A	uc009xez.1	+	93	20358	c.20314G>A	c.(20314-20316)Gac>Aac	p.D6772N	OBSCN_uc001hsr.1_Missense_Mutation_p.D1401N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6772					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCCCACCCGACAGCCCCTC	0.662000														34			9		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035824	36035824	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:36035824C>T	uc003jjz.2	-	6	1680	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G	UGT3A2_uc011cos.2_Silent_p.G482G|UGT3A2_uc011cot.2_Silent_p.G214G	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	516						integral to membrane	glucuronosyltransferase activity	p.R515H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTCTGGCCCCACGCAGCC	0.577000														43			17		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120260703	120260703	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:120260703G>A	uc001txj.2	-	8	1088	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	CIT_uc001txi.2_Silent_p.G344G	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	344	Protein kinase.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTCTTTCTGGCCGCACAACA	0.393000														97			31		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45461956	45461956	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:45461956C>T	uc003jok.3	-	2	1028	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	335						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACAACCATTTCATTTAAAGAC	0.398000														48			8		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216267	11216267	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:11216267G>A	uc002mqk.4	+	3	872	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	LDLR_uc010xlk.2_Missense_Mutation_p.E229K|LDLR_uc010xll.2_Missense_Mutation_p.E188K|LDLR_uc021upc.1_Missense_Mutation_p.E108K|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.E82K|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	229	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ATCTGACGAGGAAAACTGCGG	0.637000														51			4		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281920	125281920	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:125281920C>T	uc011lyw.2	+	0	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCCAGCTGTCCTTTTGTGCTG	0.493000														65			22		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538501	152538502	+	Nonsense_Mutation	DNP	GG	AA	AA	rs140473829		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:152538501_152538502GG>AA	uc021oyz.1	-	0	183_184	c.183_184CC>TT	c.(181-186)caccga>caTTga	p.R62*	LCE3E_uc001faa.3_Nonsense_Mutation_p.R62*	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	62					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCGGCATCGGTGGTGGCGCC	0.678000														73			86		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52815970	52815970	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:52815970C>T	uc003dfs.3	+	6	732	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.F92F|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	234					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ATGTGCTGTTCCGTCCCACCG	0.517000														135			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088237	9088237	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9088237G>A	uc002mkp.3	-	0	3782	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1193	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTAAGTTGGGCATGTTCCA	0.473000														180			41		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247692	149247692	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:149247692C>T	uc002twm.4	+	11	4789	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.F522F|MBD5_uc002twp.3_Silent_p.F314F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1264						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGAAAATTTCAGGTATAATA	0.408000														85			19		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516175	140516175	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140516175G>A	uc003liq.3	+	0	1376	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGAATGATCTCCCCTT	0.478000														78			17		0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138023745	138023745	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:138023745G>A	uc003esg.3	-	8	789	c.761C>T	c.(760-762)cCc>cTc	p.P254L	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Missense_Mutation_p.P169L|NME9_uc003ese.1_Missense_Mutation_p.P193L	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	254	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCCACATTGGGGTCACGGGG	0.592000														132			79		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55204123	55204123	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:55204123A>T	uc003jql.3	+	10	1577	c.1385A>T	c.(1384-1386)gAg>gTg	p.E462V	IL31RA_uc003jqk.3_Missense_Mutation_p.E462V|IL31RA_uc011cqj.2_Missense_Mutation_p.E320V|IL31RA_uc003jqm.3_Missense_Mutation_p.E443V|IL31RA_uc003jqn.3_Missense_Mutation_p.E462V|IL31RA_uc010iwa.1_Missense_Mutation_p.E430V|IL31RA_uc021xyq.1_Missense_Mutation_p.E443V|IL31RA_uc003jqo.3_Missense_Mutation_p.E320V	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	430	Fibronectin type-III 5.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCAAGGTGGAGAACATTGGC	0.483000														60			19		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41420006	41420006	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:41420006G>A	uc002xkg.3	-	2	499	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PTPRT_uc010ggj.3_Silent_p.F105F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	105	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGTAGTAATGGAAGTCGATGC	0.562000														46			18		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681119	100681119	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:100681119C>T	uc003uxp.1	+	2	6475	c.6422C>T	c.(6421-6423)tCa>tTa	p.S2141L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2141	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)					GAAGTCAGTTCATCTCCTATA	0.502000														671			78		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286079	48286079	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:48286079C>T	uc010rht.2	+	0	667	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCTGCACTTCCTGAGAAGCCA	0.527000														89			12		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745001	84745001	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:84745001C>T	uc021pvc.1	+	9	1830	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	NRG3_uc010qlz.1_Silent_p.I576I|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.I577I|NRG3_uc001kcp.2_Silent_p.I380I|NRG3_uc001kcq.2_Silent_p.I227I|NRG3_uc021pvd.1_Silent_p.I356I|NRG3_uc021pve.1_Silent_p.I381I|NRG3_uc021pvf.1_Silent_p.I227I|NRG3_uc021pvg.1_Silent_p.I405I|NRG3_uc021pvh.1_Silent_p.I189I|NRG3_uc021pvi.1_Silent_p.I407I|NRG3_uc021pvk.1_Silent_p.I117I|NRG3_uc001kcr.2_Silent_p.I251I|NRG3_uc021pvl.1_Silent_p.I227I	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	601					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.W600S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGCCCATCATCCCTTCAGTGG	0.468000														142			88		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310661	57310661	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57310661G>A	uc021qjh.1	+	0	548	c.546G>A	c.(544-546)agG>agA	p.R182R		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	182										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGCCAGAGGAAAGAGTGCA	0.552000														20			10		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779774	50779774	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:50779774C>T	uc021vhh.1	-	7	2631	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V	NRXN1_uc002rxb.4_Silent_p.V242V|NRXN1_uc021vhg.1_Silent_p.V610V|NRXN1_uc021vhi.1_Silent_p.V606V|NRXN1_uc021vhj.1_Silent_p.V566V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	570	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCCATCATTCACTTTCTTCA	0.458000														128			47		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004158	34004158	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:34004158G>A	uc003oir.4	-	7	2092	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	GRM4_uc011dsn.2_Missense_Mutation_p.P530S|GRM4_uc010jvh.3_Missense_Mutation_p.P577S|GRM4_uc010jvi.3_Missense_Mutation_p.P269S|GRM4_uc003oio.3_Missense_Mutation_p.P269S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.P437S|GRM4_uc003oiq.3_Missense_Mutation_p.P444S|GRM4_uc011dsm.2_Missense_Mutation_p.P408S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	577					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGATGATGGGGATGGGCCGG	0.632000														31			28		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95728975	95728975	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:95728975G>A	uc003kls.2	-	13	2231	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	PCSK1_uc010jbi.2_Silent_p.S354S|PCSK1_uc021ybq.1_Silent_p.S617S	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	664					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATGGCCTGGGAAGGGGCTC	0.557000														95			24		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237690	126237691	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126237690_126237691GG>AA	uc003ifj.4	+	0	124_125	c.124_125GG>AA	c.(124-126)ggg>AAg	p.G42K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	42					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGGTCCACGGGGCCGAGCCG	0.629000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062037	9062037	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9062037G>A	uc002mkp.3	-	2	25613	c.25409C>T	c.(25408-25410)tCa>tTa	p.S8470L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8472	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTCTGGTGATATGGTGAA	0.498000														241			36		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021239	142021239	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:142021239G>A	uc011krr.1	+	1	404	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.Q73Q					SubName: Full=V_segment translation product; Flags: Fragment;																		GTGAGACACAGAGAAACAAAG	0.537000														55			5		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115346520	115346520	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:115346520G>A	uc003kro.3	+	13	2340	c.2176G>A	c.(2176-2178)Gtc>Atc	p.V726I	AQPEP_uc003krp.3_Intron|AQPEP_uc003krs.3_Intron|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	726					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATGGCATACAGTCTTGGTAAA	0.303000														23			3		0	0	1	0	0
FAM22A	728118	broad.mit.edu	37	10	88994203	88994204	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:88994203_88994204GG>AA	uc001kek.3	+	6	2758_2759	c.2375_2376GG>AA	c.(2374-2376)tgg>tAA	p.W792*	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	Homo sapiens family with sequence similarity 22, member A (FAM22A), mRNA.	792																	CCAGAAAAGTGGGGACCCCAGG	0.599000			T	YWHAE	edometrial stromal sarcoma									36			7		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137650103	137650103	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:137650103C>T	uc004cfe.3	+	17	2278	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	632	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCGGGGTTTCGACGGCCTGG	0.627000														76			15		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:115998159G>A	uc003ibu.3	-	1	713	c.34C>T	c.(34-36)Cga>Tga	p.R12*	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	12			R -> Q (in dbSNP:rs35181627).			Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCAATGTTCGAAAACTTCTC	0.343000														23			9		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158450041	158450041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:158450041G>A	uc003qqx.2	+	2	574	c.468G>A	c.(466-468)tgG>tgA	p.W156*	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Nonsense_Mutation_p.W156*|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Nonsense_Mutation_p.W105*|SYNJ2_uc010kjo.1_Nonsense_Mutation_p.W105*|SYNJ2_uc021zhl.1_Non-coding_Transcript	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	156	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCTCTGAATGGGGGAACTCCT	0.617000														67			27		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20598128	20598128	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:20598128C>T	uc003gpr.1	+	31	3615	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	SLIT2_uc003gps.1_Silent_p.I1129I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1137	EGF-like 6.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCAGTGTATCGTCAGAATAA	0.408000														88			17		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122756609	122756609	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:122756609C>T	uc004etu.3	-	30	3817	c.3785_splice	c.e30+1	p.S1262_splice	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Splice_Site_p.S83_splice	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1262					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTGTTCCTACCTGTTAGAGCC	0.383000														46			10		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823896	70823896	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70823896G>A	uc004eae.2	+	7	1270	c.769G>A	c.(769-771)Gac>Aac	p.D257N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	257	Asp/Ser-rich.					nucleus		p.D257N(2)|p.D256N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.557000														228			12		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48627463	48627463	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:48627463A>C	uc002ird.3	+	7	1121	c.980A>C	c.(979-981)gAc>gCc	p.D327A	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.D267A|SPATA20_uc002irf.3_Missense_Mutation_p.D311A|SPATA20_uc010wmv.1_Missense_Mutation_p.D337A|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	311					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGCATCCGGGACCATGTGGGG	0.632000														199			17		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553632	50553632	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50553632C>T	uc003bjj.3	+	7	1299	c.1216C>T	c.(1216-1218)Cct>Tct	p.P406S	MOV10L1_uc003bjk.4_Missense_Mutation_p.P406S|MOV10L1_uc011arp.2_Missense_Mutation_p.P386S|MOV10L1_uc011arq.1_Missense_Mutation_p.P167S|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	406					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGGCTTGTCCCTCCAGGGGG	0.478000														217			33		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509642	23509642	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:23509642G>A	uc003jgo.3	+	2	315	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	45	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAGATGGGAGACTGGGAGAA	0.433000										HNSCC(3;0.000094)				153			26		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167835597	167835597	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:167835597C>T	uc003lzu.3	+	6	899	c.806C>T	c.(805-807)tCg>tTg	p.S269L	WWC1_uc003lzv.3_Missense_Mutation_p.S269L|WWC1_uc011den.2_Missense_Mutation_p.S269L|WWC1_uc003lzw.3_Missense_Mutation_p.S68L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	269					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGGAGAGTTCGAGTTTCCCG	0.597000														161			38		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331756	20331756	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:20331756C>T	uc002dgv.3	-	5	778	c.695G>A	c.(694-696)aGg>aAg	p.R232K	GP2_uc002dgw.3_Missense_Mutation_p.R229K|GP2_uc002dgx.3_Missense_Mutation_p.R85K|GP2_uc002dgy.3_Missense_Mutation_p.R82K	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	232	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTTGATCTCCCTGGGCCCACA	0.542000														45			10		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154021	41154021	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:41154021G>A	uc003jmk.2	-	14	2391	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	C6_uc003jml.1_Silent_p.S727S	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	727	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTAGCTCAATGGATTCACCAA	0.473000														68			25		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:31754406G>A	uc002rnw.1	-	4	737	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	223					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000														48			19		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054287	21054287	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:21054287G>A	uc010sil.2	+	12	1816	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	SLCO1B3_uc001rek.3_Missense_Mutation_p.G584E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G584E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	584					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTTGCAGGAGGAATTCTAGCT	0.363000														141			23		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807084	233807084	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:233807084G>A	uc010pxo.1	+	2	987	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	273						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCATGAGCTGAAAAAATTCA	0.448000														90			26		0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524461	27524461	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:27524461C>A	uc022bez.1	+	0	127	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K	MOB3B_uc003zqn.3_Intron|IFNK_uc003zqp.3_Missense_Mutation_p.Q43K	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	Homo sapiens interferon, kappa (IFNK), mRNA.	43					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		AGTCACCTGGCAAAATCTGAG	0.423000														91			24		3.08376e-08	3.10393e-08	1	1	0
GHR	2690	broad.mit.edu	37	5	42718780	42718780	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:42718780G>A	uc021xxv.1	+	9	1329	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	GHR_uc003jmt.3_Missense_Mutation_p.E391K|GHR_uc003jmu.3_Missense_Mutation_p.E391K|GHR_uc003jmv.2_Missense_Mutation_p.E391K|GHR_uc021xxw.1_Missense_Mutation_p.E391K|GHR_uc021xxx.1_Missense_Mutation_p.E391K|GHR_uc021xxy.1_Missense_Mutation_p.E391K|GHR_uc021xxz.1_Missense_Mutation_p.E391K|GHR_uc021xya.1_Missense_Mutation_p.E391K|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.E204K|GHR_uc021xyd.1_Missense_Mutation_p.E369K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	391					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGCTGTTGTGAACCTGACAT	0.473000														140			26		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073478	73073478	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:73073478G>A	uc001otu.3	+	14	4716	c.4695_splice	c.e14-1	p.R1565_splice		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1565					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTTCTCGCAGGGAGCCTCCTC	0.736000														14			16		0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124908153	124908153	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:124908153C>T	uc001lhc.1	+	0	516	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	87					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CATCCCTTTTCCTTGCCTGGG	0.716000														37			10		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146513	70146513	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:70146513G>A	uc003hej.3	+	0	297	c.295G>A	c.(295-297)Gac>Aac	p.D99N	UGT2B28_uc010ihr.3_Missense_Mutation_p.D99N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	99					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S98L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAGATGGTCAGACATTCAAAA	0.323000														160			23		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913500	87913500	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:87913500C>T	uc022agz.1	-	2	308	c.85G>A	c.(85-87)Gat>Aat	p.D29N	STEAP4_uc003ujs.3_Missense_Mutation_p.D29N|STEAP4_uc010lek.3_Missense_Mutation_p.D29N	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	29					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G28R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTCCAAAATCACCAGTTCCA	0.393000														85			42		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50375234	50375234	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:50375234G>A	uc001nhe.2	+	3		c.126_splice	c.e3-1		LOC646813_uc001nhf.1_Intron|LOC646813_uc001nhg.1_Splice_Site|LOC646813_uc001nhh.1_5'Flank|LOC646813_uc010rib.1_5'Flank					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TGTTTTAATAGACTGACTTCC	0.323000														38			6		0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787906	27787906	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:27787906T>A	uc001ric.2	+	3	505	c.128T>A	c.(127-129)aTg>aAg	p.M43K	PPFIBP1_uc001rhy.1_Missense_Mutation_p.M43K|PPFIBP1_uc001rhz.2_Missense_Mutation_p.M43K|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.2_Missense_Mutation_p.M43K|PPFIBP1_uc001ria.3_Missense_Mutation_p.M43K|PPFIBP1_uc001rid.2_Intron	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	43					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTCCATTCATGGGAAGTTTG	0.443000														160			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230000	140230000	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140230000G>A	uc003lhu.2	+	0	2644	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.T640T	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	651	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAAACGGACGCACCGC	0.672000														91			18		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43655067	43655067	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:43655067C>T	uc004dfz.4	-	6	863	c.687G>A	c.(685-687)gtG>gtA	p.V229V	MAOB_uc011mkx.2_Silent_p.V213V|MAOB_uc011mky.2_Silent_p.V213V	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	229					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCTCCAGCTTCACTCGGTCTC	0.468000														89			48		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779602	133779602	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:133779602C>T	uc004bzz.3	-	6	1480	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	FIBCD1_uc011mcc.2_Missense_Mutation_p.R412H	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	412	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTGGCAGTTGCGGTACCACCA	0.632000														105			21		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127518608	127518608	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:127518608A>G	uc003kus.3	+	23	3438	c.3274A>G	c.(3274-3276)Atc>Gtc	p.I1092V	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.I1076V	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	1092					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTAGGAGATATCAATACCAA	0.323000														20			3		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368527	111368527	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:111368527G>A	uc003vfy.3	-	53	6108	c.5839C>T	c.(5839-5841)Ccg>Tcg	p.P1947S	DOCK4_uc011kml.2_Missense_Mutation_p.P783S|DOCK4_uc011kmm.2_Missense_Mutation_p.P771S|DOCK4_uc003vfw.3_Missense_Mutation_p.P1314S|DOCK4_uc003vfx.3_Missense_Mutation_p.P1902S|DOCK4_uc003vfv.3_Missense_Mutation_p.P215S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1902	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACGCTGTACGGGGGCGGAGTC	0.721000														45			36		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888901	38888901	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:38888901C>T	uc021wvy.1	-	25	4859	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1554					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCAGGGAATCCCAACCTGCT	0.468000														95			24		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41158845	41158845	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:41158845G>A	uc003jmk.2	-	12	2109	c.1899C>T	c.(1897-1899)gtC>gtT	p.V633V	C6_uc003jml.1_Silent_p.V633V	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	633					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGGAAGATCGACCTCTTTCA	0.403000														49			21		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488907	17488907	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:17488907C>T	uc002zlw.3	-	0	206	c.98G>A	c.(97-99)gGa>gAa	p.G33E	GAB4_uc010gqs.1_Missense_Mutation_p.G33E	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	33										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGTGCTTCCGCCGGCGGG	0.677000														12			4		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883076	228883076	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:228883076C>T	uc002vpq.2	-	6	2541	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E832K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E832K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	832						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATATATTTCCTTGGAGGAT	0.488000														157			25		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349481	89349481	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:89349481C>A	uc002fmx.1	-	8	3930	c.3469G>T	c.(3469-3471)Gag>Tag	p.E1157*	ANKRD11_uc002fmy.1_Nonsense_Mutation_p.E1157*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.E1157*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.E1114*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1157	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCATAGGCCTCCCGTCCTTCC	0.617000														181			24		5.35356e-11	5.3974e-11	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206305377	206305378	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:206305377_206305378CC>AT	uc002var.2	+	19	3232_3233	c.3025_3026CC>AT	c.(3025-3027)cca>ATa	p.P1009I	PARD3B_uc002vao.2_Intron|PARD3B_uc002vap.2_Missense_Mutation_p.P947I|PARD3B_uc002vaq.2_Missense_Mutation_p.P940I	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1009					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCCATACCATCCACTGGTTCCA	0.431000														37			18		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160934	8160934	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:8160934C>T	uc002mjf.3	-	43	5587	c.5570G>A	c.(5569-5571)gGa>gAa	p.G1857E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1857	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCCCATTTCCACAAGGCTG	0.572000														69			8		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841841	5841841	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5841841G>A	uc010qzp.2	+	0	276	c.276G>A	c.(274-276)aaG>aaA	p.K92K	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAACCTCAAGGAGATTGACT	0.522000														169			23		0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97613200	97613200	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:97613200G>A	uc003ppb.3	-	20	3409	c.3143C>T	c.(3142-3144)cCt>cTt	p.P1048L	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.P1008L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	1048					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGCAAAACAGGATGTTGTCC	0.368000														80			16		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659245	121659245	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:121659245G>A	uc003eep.2	+	20	2076	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	SLC15A2_uc011bjn.1_Missense_Mutation_p.M610I	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	641					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTCTAGCATGAAATCTGTGC	0.498000														73			24		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047150	132047150	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:132047150C>T	uc010htp.2	+	1	250	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	ACPP_uc003eon.3_Missense_Mutation_p.P54S|ACPP_uc003eop.4_Missense_Mutation_p.P54S	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	54						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGACACCTTTCCCACTGACCC	0.473000														117			19		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934508	113934508	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:113934508C>T	uc001pop.3	+	1	750	c.486C>T	c.(484-486)tcC>tcT	p.S162S	ZBTB16_uc001poo.1_Silent_p.S162S|ZBTB16_uc001poq.3_Silent_p.S162S	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	162					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGAAGCATTCCAGCGAGGAGA	0.587000														115			12		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866323	139866323	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:139866323G>A	uc004fbg.1	-	0	401	c.209C>T	c.(208-210)tCg>tTg	p.S70L	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	70	23 X 6 AA approximate repeats.							p.S70S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CATAGCTTCCGAAAAATCCAG	0.453000														193			32		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554514	4554514	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4554514C>T	uc001qmr.1	-	0	267	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	75					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TAGCCACTTTCCCAGTTCACC	0.657000														132			13		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908863	123908863	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:123908863G>A	uc001pzq.1	-	0	846	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAACAGGGTTGAAAAGAGGAG	0.488000														101			10		0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202888910	202888910	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:202888910G>A	uc001gyo.1	-	2	522	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLHL12_uc001gyn.1_5'Flank|KLHL12_uc010pqc.1_Missense_Mutation_p.P146S|KLHL12_uc009xah.1_Missense_Mutation_p.P108S	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	108					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGGCTGCAGGAAGCAGTTCT	0.383000														80			29		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68715390	68715390	+	Missense_Mutation	SNP	G	A	A	rs150886543		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:68715390G>A	uc001stz.2	-	5	956	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Missense_Mutation_p.R229C	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	274						nucleus		p.R274C(4)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AATTTTAAACGATCGTCTATT	0.308000														9			18		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740925	71740925	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:71740925C>T	uc002llf.2	-	9	1384	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.G359E	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	359										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAGGGTTTCCCATGTTCATC	0.463000														170			25		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128015297	128015297	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:128015297G>A	uc002toh.1	-	14	2319	c.2224C>T	c.(2224-2226)Cgg>Tgg	p.R742W	ERCC3_uc002toe.1_Missense_Mutation_p.R497W|ERCC3_uc002tof.1_Missense_Mutation_p.R678W|ERCC3_uc002tog.1_Missense_Mutation_p.R678W	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	742					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCAAAGCGCCGAGATGCCTGC	0.488000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					96			37		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307608	39307608	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:39307608G>A	uc021wwc.1	-	1	529	c.489C>T	c.(487-489)atC>atT	p.I163I	CX3CR1_uc021wwa.1_Silent_p.I131I|CX3CR1_uc021wwb.1_Silent_p.I131I|CX3CR1_uc003cjl.3_Silent_p.I131I|CX3CR1_uc021wwd.1_Silent_p.I131I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	131					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGGCCAGGACGATGGCCAGGT	0.537000														122			58		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577428	9577428	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9577428C>T	uc002mlp.1	-	9	2405	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R626Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R732Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGTGTGAATTCGCACATGATT	0.398000														110			29		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849381	73849381	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:73849381G>A	uc003xzb.3	+	2	2379	c.1791G>A	c.(1789-1791)atG>atA	p.M597I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	597					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGTGGACATGAAGAGCACCT	0.572000														137			22		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870103	4870103	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4870103G>A	uc010qyo.2	-	0	336	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAAGACATGGATAAAAACCA	0.567000														113			12		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121435391	121435391	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:121435391C>T	uc001tzg.3	+	6	1447	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	HNF1A_uc021rex.1_Missense_Mutation_p.P71L|HNF1A_uc021rey.1_Missense_Mutation_p.P24L|HNF1A_uc021rez.1_Missense_Mutation_p.P57L|HNF1A_uc001tzf.3_Missense_Mutation_p.P475L|HNF1A_uc010szn.2_Missense_Mutation_p.P475L|HNF1A_uc021rfa.1_Missense_Mutation_p.P475L|HNF1A_uc021rfb.1_Missense_Mutation_p.P347L|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	475					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCAGCAGCCGCTCATGCCA	0.662000									Hepatic Adenoma, Familial Clustering of					28			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735963	140735963	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140735963G>A	uc003ljq.2	+	0	1196	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.G399E	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	401	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aagaCCTATGGAAATTATTAT	0.433000														10			3		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36216413	36216413	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36216413C>T	uc021usv.1	+	11	3676	c.3676C>T	c.(3676-3678)Cac>Tac	p.H1226Y	MLL2_uc021usu.1_Missense_Mutation_p.H40Y	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1405					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.G1226V(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGACCCATTCCACCCATTCTG	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				229			84		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55890553G>A	uc001nii.1	+	0	705	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000														115			36		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163476	47163476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:47163476G>A	uc003cqv.3	-	2	2703	c.2617C>T	c.(2617-2619)Cag>Tag	p.Q873*	SETD2_uc003cqs.3_Nonsense_Mutation_p.Q884*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGAAGACTCTGAAGAGATGAA	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma									125			32		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37626066	37626066	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:37626066C>T	uc003onu.1	-	2	1516	c.337G>A	c.(337-339)Ggc>Agc	p.G113S		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	113	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCCCCACGCCGTTCTCAGCC	0.662000														32			20		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219548	26219548	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:26219548G>A	uc003abz.1	+	12	2848	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	MYO18B_uc003aca.1_Silent_p.L747L|MYO18B_uc010guy.1_Silent_p.L747L|MYO18B_uc010guz.1_Silent_p.L747L|MYO18B_uc011aka.1_Silent_p.L20L|MYO18B_uc011akb.1_Silent_p.L379L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	866	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATGAGGAGCTGAACACGGCCA	0.567000														243			34		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416373	54416373	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:54416373C>T	uc003jpo.2	-	9	1398	c.1221G>A	c.(1219-1221)atG>atA	p.M407I	CDC20B_uc003jpn.2_Missense_Mutation_p.M407I|CDC20B_uc010ivu.2_Intron	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	407										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GACACCAATCCATGGCCTTTA	0.488000														82			15		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434032	72434032	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:72434032G>A	uc004ebi.3	-	0	679	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	99					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTTCAACAAAGTCTGTATCTA	0.443000														95			47		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541374	55541374	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55541374G>A	uc010ril.2	+	0	461	c.461G>A	c.(460-462)gGg>gAg	p.G154E		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TATACATGGGGGATAGTGTGC	0.403000														199			42		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591801	38591801	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:38591801C>T	uc002ohk.3	+	5	2473	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	655	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGTTCCTCTCCCTCATCGGC	0.592000														11			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222473	140222473	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140222473C>T	uc003lhs.2	+	0	1567	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.L523L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGCTGGACCACGA	0.677000														188			51		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2185559	2185559	+	Silent	SNP	G	A	A	rs118175546	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:2185559G>A	uc001lvq.3	-	13	1510	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	TH_uc001lvp.3_Silent_p.I493I|TH_uc001lvr.3_Silent_p.I466I|TH_uc010qxj.2_Silent_p.I470I|TH_uc001lvs.3_Silent_p.I372I|TH_uc001lvt.3_Silent_p.I376I	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	497					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAGCACGTCGATGGCCAGCG	0.667000														47			11		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901717	166901717	+	Missense_Mutation	SNP	G	A	A	rs141188608		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166901717G>A	uc002udo.4	-	11	1725	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SCN1A_uc010fpk.3_Missense_Mutation_p.R500W|SCN1A_uc021vsb.1_Missense_Mutation_p.R500W	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	500						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R500Q(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCTTCCTCCGATTTCTTCTT	0.468000														291			46		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921627	213921627	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:213921627C>T	uc002vem.3	-	3	505	c.336G>A	c.(334-336)ctG>ctA	p.L112L	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Silent_p.L59L|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Intron|IKZF2_uc002vel.3_Intron|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Intron|IKZF2_uc002ven.3_Intron	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGTCACATTTCAGTTTACCAT	0.493000														85			28		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845343	53845343	+	Silent	SNP	C	T	T	rs34734703		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:53845343C>T	uc003dgv.4	+	47	6559	c.6396C>T	c.(6394-6396)gaC>gaT	p.D2132D	CACNA1D_uc003dgu.4_Silent_p.D2152D|CACNA1D_uc003dgy.4_Silent_p.D2108D|CACNA1D_uc003dgw.4_Silent_p.D1799D|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2132					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCTACAGGACTTTGGTCCTG	0.607000														112			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534098	152534098	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:152534098T>A	uc021vrb.1	-	31	3784	c.3755A>T	c.(3754-3756)aAc>aTc	p.N1252I	NEB_uc002txu.3_Missense_Mutation_p.N1252I|NEB_uc021vrc.1_Missense_Mutation_p.N1252I|NEB_uc010fnx.3_Missense_Mutation_p.N1252I|NEB_uc021vrd.1_Missense_Mutation_p.N1252I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1252					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGCTTCGTGTTCTGTTTTGC	0.418000														95			21		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487113	51487113	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:51487113G>A	uc004dpl.3	+	0	633	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	131					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGTTACCATGGAACTTTCAGA	0.512000														37			7		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21530063	21530063	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:21530063C>T	uc002kuq.3	+	71	9668	c.9582C>T	c.(9580-9582)atC>atT	p.I3194I	LAMA3_uc002kur.3_Silent_p.I3138I|LAMA3_uc002kus.4_Silent_p.I1585I|LAMA3_uc002kut.4_Silent_p.I1529I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3194	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTGGGATCCTAATACACA	0.463000														67			8		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128475388	128475388	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:128475388G>A	uc003vnz.4	+	1	570	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	FLNC_uc003voa.4_Missense_Mutation_p.A121T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	121	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGACAGCAAGGCCATCGTGGA	0.637000														160			11		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76257161	76257161	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76257161G>A	uc001oxl.3	+	19	3737	c.3594G>A	c.(3592-3594)gcG>gcA	p.A1198A	C11orf30_uc001oxm.3_Silent_p.A1100A|C11orf30_uc010rsb.2_Silent_p.A1213A|C11orf30_uc010rsc.2_Silent_p.A1199A|C11orf30_uc001oxn.3_Silent_p.A1199A|C11orf30_uc010rsd.2_Silent_p.A1107A|C11orf30_uc010rse.2_Silent_p.A445A|C11orf30_uc001oxp.3_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1198					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGGATGGCGAATTCCACTC	0.517000														160			34		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56393405	56393405	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:56393405C>T	uc002ivx.4	-	15	2948	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	BZRAP1_uc010dcs.3_Missense_Mutation_p.D633N|BZRAP1_uc010wnt.2_Missense_Mutation_p.D693N	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	693	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCCTCATCCATGTTGCCA	0.507000														93			50		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556195	123556195	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:123556195C>T	uc010nqy.3	-	23	4462	c.4398G>A	c.(4396-4398)ggG>ggA	p.G1466G	ODZ1_uc011muj.2_Silent_p.G1465G|ODZ1_uc004euj.3_Silent_p.G1459G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1459					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGTAGATCTCCCCATTGGTGG	0.493000														126			21		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313521	99313521	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:99313521C>T	uc003uru.3	-	6	633	c.530G>A	c.(529-531)gGg>gAg	p.G177E	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	177					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G177G(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GCTGTAGGCCCCAAAGACGCT	0.463000														244			20		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924600	153924600	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:153924600G>A	uc021pab.1	-	9	1050	c.891C>T	c.(889-891)gcC>gcT	p.A297A	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	297					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCTAGGGTAGGCTGTCTCTT	0.627000														65			91		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284194	159284194	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:159284194G>A	uc010piu.2	-	0	256	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGATTCAAGAGACCAGAAAGC	0.498000														92			67		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189018259	189018259	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:189018259A>G	uc011cle.1	-	6	998	c.776T>C	c.(775-777)tTa>tCa	p.L259S	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.L184S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	184	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TATGTGGCATAAACTCAGGTC	0.493000														136			20		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310490	26310490	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:26310490C>T	uc001isn.2	+	7	1004	c.644C>T	c.(643-645)tCc>tTc	p.S215F	MYO3A_uc009xko.1_Missense_Mutation_p.S215F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.S215F|MYO3A_uc001ism.2_Missense_Mutation_p.S215F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	215	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GACACTTGGTCCCTGGGTATC	0.458000														94			24		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880969	64880969	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:64880969C>T	uc001ocv.3	+	2	1166	c.569C>T	c.(568-570)cCg>cTg	p.P190L	TM7SF2_uc001oct.3_Missense_Mutation_p.P169L|TM7SF2_uc010rny.2_Missense_Mutation_p.P53L|TM7SF2_uc001ocu.3_Missense_Mutation_p.P169L|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	169					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGCAATCCGATTTACGAC	0.537000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		287			73		0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38066101	38066101	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:38066101G>A	uc010cwj.3	-	3	615	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	GSDMB_uc010cwi.3_5'Flank|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Intron|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.L162L|GSDMB_uc002hth.3_Silent_p.L162L|GSDMB_uc010wem.2_Silent_p.L162L	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	162						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						ACCGTCTCCAGAGTTTCTGTC	0.453000														103			14		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43004409	43004409	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:43004409G>A	uc010wji.2	-	13	2424	c.2323C>T	c.(2323-2325)Cca>Tca	p.P775S	KIF18B_uc002iht.3_Missense_Mutation_p.P784S|KIF18B_uc010wjh.2_Missense_Mutation_p.P772S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GAAGATGTTGGCTTGGGGCCC	0.617000														16			3		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377986	31377986	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:31377986G>A	uc003tch.3	-	1	1250	c.897C>T	c.(895-897)ccC>ccT	p.P299P	NEUROD6_uc022abi.1_Silent_p.P299P	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	299					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGCCCAAGGGGACCCCTGG	0.473000														87			15		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6549450	6549450	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:6549450C>T	uc001iji.1	-	2	510	c.426G>A	c.(424-426)ctG>ctA	p.L142L	PRKCQ_uc001ijj.2_Silent_p.L109L|PRKCQ_uc009xim.2_Silent_p.L109L|PRKCQ_uc009xin.2_Silent_p.L73L|PRKCQ_uc010qax.2_Intron	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	109					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTGAGGTTTCAGCTCTAACT	0.468000														171			94		0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926428	50926428	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50926428C>T	uc003bll.1	+	3	405	c.291C>T	c.(289-291)ttC>ttT	p.F97F	MIOX_uc003blm.1_Silent_p.F97F|MIOX_uc003bln.1_Silent_p.F97F	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	97					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAACTCCTTCCATGCCTTCC	0.627000														69			14		0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593309	1593309	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:1593309G>A	uc010itg.1	-	1	228	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		GCCCCGAGCCGATTGGCACCA	0.582000														69			10		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98453599	98453600	+	Nonsense_Mutation	DNP	CA	AG	AG			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:98453599_98453600CA>AG	uc002syh.4	-	7	973_974	c.744_745TG>CT	c.(742-747)agtgga>agCTga	p.G249*	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	249						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGGTCTCCTCCACTAGAGTACA	0.441000														74			21		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228401903	228401903	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:228401903G>C	uc009xez.1	+	3	1331	c.1287G>C	c.(1285-1287)aaG>aaC	p.K429N	OBSCN_uc001hsn.3_Missense_Mutation_p.K429N|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	429	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCTCGGAAGACGGCGGTGC	0.701000														128			26		0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153657425	153657425	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:153657425G>A	uc004flf.1	+	1	254	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	BC009467_uc004fld.4_5'Flank|ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.E25K	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	65					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACACTCATGAAGGCCACAT	0.622000														108			15		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333576	44333576	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:44333576C>T	uc002xpc.3	-	0	83	c.55G>A	c.(55-57)Gat>Aat	p.D19N	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TAACCAAAATCCCAAAGCAAA	0.507000														240			73		0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:139094905C>T	uc003qie.3	+	0	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000														164			57		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131203653	131203653	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:131203653G>A	uc004ewk.1	+	6	1046	c.745G>A	c.(745-747)Gag>Aag	p.E249K	MST4_uc004ewl.1_Missense_Mutation_p.E172K|MST4_uc011mux.1_Missense_Mutation_p.E271K|MST4_uc010nrj.1_Missense_Mutation_p.E249K|MST4_uc004ewm.1_Intron	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	249	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTCTTTTAAGGAGTTTATTGA	0.338000														29			7		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40948140	40948140	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:40948140G>A	uc002ibj.3	+	17	3500	c.3432_splice	c.e17-1	p.K1144_splice	WNK4_uc010wgx.2_Splice_Site_p.K808_splice|CCDC56_uc010wgz.1_Silent_p.L40L|CNTD1_uc002ibm.4_5'Flank|CNTD1_uc010wha.2_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1144					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCATCCTCAGGCACTTGTCA	0.547000														95			14		0	0	1	0	0
LOC200726	200726	broad.mit.edu	37	2	207509254	207509254	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:207509254C>T	uc010fuh.1	+	1	469	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		CCCAACTCTTCTGGGACATCT	0.483000														50			15		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	865586	865586	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:865586G>A	uc003jbq.3	-	14	1803	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	BRD9_uc003jbl.3_Missense_Mutation_p.P430S|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.P493S|BRD9_uc003jbo.3_Missense_Mutation_p.P450S	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	546							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TTGGACGACGGCCGAGAGCCG	0.657000														97			12		0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31827643	31827644	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31827643_31827644GG>AA	uc003nxq.4	-	5	1256_1257	c.1100_1101CC>TT	c.(1099-1101)ccc>cTT	p.P367L		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	367						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	AATAGCCACTGGGGCCTGGCCA	0.594000														109			48		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102284087	102284087	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:102284087C>T	uc003knt.3	+	7	954	c.581C>T	c.(580-582)cCt>cTt	p.P194L	PAM_uc003knw.3_Missense_Mutation_p.P194L|PAM_uc003kns.3_Missense_Mutation_p.P194L|PAM_uc003knu.3_Missense_Mutation_p.P194L|PAM_uc011cuz.2_Missense_Mutation_p.P97L|PAM_uc003knv.3_Missense_Mutation_p.P194L	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	194	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGCAGACAGCCTTTAATTGCT	0.313000														64			16		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66410003	66410003	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:66410003G>A	uc021xzk.1	+	11	1855	c.1547G>A	c.(1546-1548)aGg>aAg	p.R516K	MAST4_uc003jus.3_Missense_Mutation_p.R327K|MAST4_uc003jut.2_Missense_Mutation_p.R327K|MAST4_uc003juu.1_Missense_Mutation_p.R337K|MAST4_uc011cra.1_Missense_Mutation_p.R310K|MAST4_uc003juv.2_Missense_Mutation_p.R322K|MAST4_uc003juw.3_Missense_Mutation_p.R322K	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	519						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACATTCCCAGGTACATCATT	0.468000														38			5		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112520	248112520	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:248112520C>T	uc001idt.1	+	0	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(4)|p.R121S(2)|p.D120G(1)|p.R121L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCTATGATCGTTACATTGC	0.443000														197			66		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147796027	147796027	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:147796027C>T	uc003ikx.4	-	7	968	c.718G>A	c.(718-720)Ggg>Agg	p.G240R	TTC29_uc003ikw.4_Missense_Mutation_p.G214R|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.G214R	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	214							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATATCCGCCCCTGTGTCAAT	0.458000														54			7		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7079044	7079044	+	Silent	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:7079044T>C	uc001mfb.1	+	6	2751	c.2428T>C	c.(2428-2430)Tta>Cta	p.L810L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	810					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGTGAGGCCTTAAGACATCC	0.388000														132			44		0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617584	86617584	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:86617584G>A	uc022bjb.1	+	0	1683	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	RMI1_uc004anq.4_Missense_Mutation_p.M561I|RMI1_uc004anr.4_Missense_Mutation_p.M561I|RMI1_uc004anp.4_Missense_Mutation_p.M561I|RMI1_uc004ans.4_Missense_Mutation_p.M561I	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	561					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TACCAGAAATGAAACAGTCAA	0.373000														128			8		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														15			3		0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109486497	109486497	+	Silent	SNP	G	A	A	rs138361021		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:109486497G>A	uc021ora.1	-	3	533	c.522C>T	c.(520-522)ttC>ttT	p.F174F	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Silent_p.F124F|CLCC1_uc001dwf.1_Silent_p.F174F|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Silent_p.F174F	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	174						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGGAATCTTCGAATCGCCACT	0.363000														35			30		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161969941	161969941	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:161969941G>A	uc021zhu.1	-	9	1260	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Missense_Mutation_p.P152L|PARK2_uc010kkd.3_Missense_Mutation_p.P152L|PARK2_uc003qtx.4_Missense_Mutation_p.P343L|PARK2_uc021zhs.1_Intron|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Missense_Mutation_p.P315L|PARK2_uc003qtz.4_Missense_Mutation_p.P194L|PARK2_uc021zhv.1_Missense_Mutation_p.P264L|PARK2_uc021zhw.1_Missense_Mutation_p.P152L|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Intron|PARK2_uc010kke.1_Missense_Mutation_p.P362L|PARK2_uc011egf.2_Missense_Mutation_p.P17L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	343					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.P343Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637000														112			41		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823599	35823599	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:35823599C>T	uc010edt.3	+	2	268	c.184C>T	c.(184-186)Cct>Tct	p.P62S	CD22_uc010edu.3_Missense_Mutation_p.P62S|CD22_uc010edv.3_Missense_Mutation_p.P62S|CD22_uc002nzb.4_Missense_Mutation_p.P62S|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	62	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTTCCACAATCCTGAGTATAA	0.517000														89			16		0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209910	209910	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:209910C>T	uc001lof.3	+	2	961	c.636C>T	c.(634-636)ctC>ctT	p.L212L	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.L212L|RIC8A_uc001loh.3_Silent_p.L205L	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	212						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCCACGCTCCTTCCTTCCC	0.597000														50			44		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886368	57886368	+	Silent	SNP	G	A	A	rs138832584		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57886368G>A	uc001nml.1	-	0	549	c.549C>T	c.(547-549)ccC>ccT	p.P183P	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183P(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCTTCAGCAGGGGTGGGAGGT	0.483000														45			22		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771345	143771345	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:143771345C>T	uc011ktx.2	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCACAGAGTTCCTCCTACTGG	0.478000														169			14		0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6765953	6765953	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:6765953G>A	uc001qpw.4	-	1	90	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	ING4_uc001qpy.4_Missense_Mutation_p.L17F|ING4_uc001qpx.4_Missense_Mutation_p.L17F|ING4_uc009zes.3_Missense_Mutation_p.L17F|ING4_uc009zet.3_Intron|ING4_uc009zeu.3_Non-coding_Transcript|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Missense_Mutation_p.L17F	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	17					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TCAAAGGGAAGGTTTTCAATA	0.423000														65			44		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36103547	36103547	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:36103547G>A	uc004ddk.1	+	4	719	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	178						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CATTTGAGTGGAAAAATGCCA	0.378000														84			33		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782298	10782298	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:10782298C>T	uc003wtk.1	-	1	834	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	269						integral to membrane		p.R268Q(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGTGTTCCTTCCGCCGCTGGC	0.592000														104			21		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155688	151155688	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:151155688C>T	uc011bod.2	-	5	6661	c.6661G>A	c.(6661-6663)Gat>Aat	p.D2221N	IGSF10_uc011bob.2_Missense_Mutation_p.D248N|IGSF10_uc011boc.2_Missense_Mutation_p.D200N	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2221	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGTGTCATCCCCACTGGGA	0.423000														178			58		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372477	175372477	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:175372477C>T	uc001gkp.1	-	1	856	c.775G>A	c.(775-777)Gag>Aag	p.E259K	TNR_uc009wwu.1_Missense_Mutation_p.E259K|TNR_uc010pmz.1_Missense_Mutation_p.E259K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	259	Cys-rich.|EGF-like 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCAGTCCTCGCCAGTGTAG	0.627000														54			34		0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	6820506	6820506	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:6820506C>T	uc003sqw.1	+	13	1867	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	RSPH10B_uc010ktk.1_Silent_p.A532A|RSPH10B_uc011jxc.2_Intron|RSPH10B_uc010ktl.2_Intron	NM_173565	NP_001093167	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	532										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTCCAAATGCCTGCCAGATAA	0.393000														175			9		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9579864	9579864	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9579864C>T	uc002mlp.1	-	9	740	c.530_splice	c.e9-1	p.E177_splice	ZNF560_uc010dwr.1_Splice_Site_p.E71_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	177	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTTTCCATTCTGAAATAAAA	0.289000														29			7		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543007	28543007	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:28543007G>A	uc003nlo.3	-	2	2093	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	492	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCAGTGTGATGAGTTGTTAGT	0.438000														95			72		0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647334	32647334	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:32647334G>A	uc002hib.3	+	1	578	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_005623	NP_005614	P80075	CCL8_HUMAN	Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA.	41					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGATCAATAGGAAAATTCCTA	0.448000														50			8		0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230861559	230861559	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:230861559G>A	uc010fxi.1	+	2	321	c.298G>A	c.(298-300)Gat>Aat	p.D100N	FBXO36_uc002vqa.3_Missense_Mutation_p.D100N|FBXO36_uc002vqb.3_Missense_Mutation_p.D69N	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	Homo sapiens F-box protein 36 (FBXO36), mRNA.	100	F-box.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTCTCAGACGATTTGCTCCT	0.358000														209			25		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23522723	23522723	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:23522723G>A	uc001wil.3	-	6	1468	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CDH24_uc010akf.3_Missense_Mutation_p.S403F|CDH24_uc001win.3_Missense_Mutation_p.S403F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	403	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCTGGCAGGGGAGTCCAGGTC	0.632000														26			6		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34242240	34242240	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:34242240C>G	uc021wcr.1	-	0	1005	c.1005G>C	c.(1003-1005)ttG>ttC	p.L335F	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.L335F|RBM12_uc002xds.3_Missense_Mutation_p.L335F|RBM12_uc002xdr.3_Missense_Mutation_p.L335F|RBM12_uc021wcq.1_Missense_Mutation_p.L335F	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	335	RRM 1.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATGATCTTTCAACAAATGCA	0.393000														155			46		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225110	158225110	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158225110C>T	uc001frt.3	+	1	828	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	99					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGAGGGAATTCGTAGATACGC	0.468000														41			47		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188223985	188223985	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:188223985G>A	uc010frt.3	-	9	1179	c.796C>T	c.(796-798)Cct>Tct	p.P266S	CALCRL_uc002upv.4_Missense_Mutation_p.P266S	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	266						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATACAAGCAGGAATCAGTGGA	0.234000														24			6		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371384	31371384	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:31371384C>T	uc002ebt.3	+	6	772	c.705C>T	c.(703-705)gtC>gtT	p.V235V	ITGAX_uc002ebu.1_Silent_p.V235V|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	235	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCAAAATGTCGTGTGAGTCC	0.552000														98			23		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79373445	79373445	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:79373445G>A	uc003hlb.2	+	46	7140	c.6700G>A	c.(6700-6702)Gaa>Aaa	p.E2234K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2233					cell communication	integral to membrane|plasma membrane	metal ion binding	p.E2234K(1)|p.E2235K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGCCTACAGAATTGATCTA	0.473000														81			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697599	152697600	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:152697599_152697600CC>AA	uc021zhb.1	-	55	9463_9464	c.9240_9241GG>TT	c.(9238-9243)ttggtt>ttTTtt	p.3080_3081LV>FF	SYNE1_uc003qot.4_Missense_Mutation_p.3087_3088LV>FF|SYNE1_uc003qou.4_Missense_Mutation_p.3080_3081LV>FF|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Missense_Mutation_p.158_159LV>FF|SYNE1_uc010kjb.1_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3080					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCATTAACCAACCACTGCT	0.376000										HNSCC(10;0.0054)				69			36		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113357440	113357440	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:113357440G>A	uc001tuc.3	+	5	1293	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	OAS1_uc001tud.3_3'UTR|OAS1_uc009zwf.3_Intron	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	0					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ttgatccagagaggacaaagc	0.502000														13			12		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028887	37028887	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:37028887G>A	uc004ddl.2	+	0	2456	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	802										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCTGGAGCCTCCCAA	0.592000														81			28		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455871	76455871	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:76455871G>A	uc010dhp.2	-	59	9773	c.9648C>T	c.(9646-9648)gcC>gcT	p.A3216A	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCACTTGAAGGCCTTCAGGC	0.602000														65			26		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210777	166210777	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166210777G>A	uc002udc.3	+	16	3285	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	SCN2A_uc002udd.3_Missense_Mutation_p.E999K|SCN2A_uc002ude.3_Missense_Mutation_p.E999K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	999					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E999K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGATGATAACGAAATGAATAA	0.388000														259			99		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113384616	113384616	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:113384616C>T	uc001tug.3	+	3	792	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	235	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGACCATCTTCGCCTGGGAGC	0.587000														17			14		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904019	5904019	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:5904019G>A	uc002wmg.3	+	3	1535	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	CHGB_uc010zqz.2_Missense_Mutation_p.G93D	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	410						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGAGAGGGGCCTTGAGCCG	0.522000														116			48		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183521106	183521106	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:183521106A>G	uc003fly.2	+	25	3760	c.3565A>G	c.(3565-3567)Aaa>Gaa	p.K1189E		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1189					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACATTGGAAAAAGGAGAGC	0.488000														17			8		0	0	1	0	0
RAB11A	8766	broad.mit.edu	37	15	66169674	66169674	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:66169674C>T	uc002apk.3	+	1	172	c.45C>T	c.(43-45)gtC>gtT	p.V15V	RAB11A_uc010ujk.2_Silent_p.V15V	NM_004663	NP_004654	P62491	RB11A_HUMAN	Homo sapiens RAB11A, member RAS oncogene family (RAB11A), transcript variant 1, mRNA.	15					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TTCCAGTTGTCCTTATTGGAG	0.383000														25			7		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36293156	36293156	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36293156G>A	uc002obx.1	-	9	1381	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	455					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCATCCAGAGGAATGCCC	0.542000														127			21		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129817091	129817091	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:129817091G>A	uc001qfm.3	-	4	701	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	PRDM10_uc001qfj.3_Silent_p.L71L|PRDM10_uc001qfk.3_Silent_p.L71L|PRDM10_uc001qfl.3_Silent_p.L71L|PRDM10_uc010sbx.2_Silent_p.L71L|PRDM10_uc001qfn.3_Silent_p.L157L|PRDM10_uc009zct.1_Silent_p.L189L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGTCATCCAGATCCGTGTCC	0.597000														45			65		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563223	55563223	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55563223C>T	uc010rim.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTACTTTTTCCTTAGTCACC	0.368000														76			34		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88726698	88726698	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:88726698G>A	uc002bme.2	-	4	652	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	NTRK3_uc002bmh.2_Missense_Mutation_p.R116W|NTRK3_uc002bmf.2_Missense_Mutation_p.R116W|NTRK3_uc021sua.1_Missense_Mutation_p.R116W|NTRK3_uc010upl.1_Missense_Mutation_p.R18W|NTRK3_uc010bnh.1_Missense_Mutation_p.R116W|NTRK3_uc002bmg.3_Missense_Mutation_p.R116W	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	116					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAATGCTCCGAAGTCCTGAG	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				124			59		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047137	19047137	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:19047137G>A	uc002dfp.2	+	6	1127	c.997G>A	c.(997-999)Gag>Aag	p.E333K	TMC7_uc010vao.1_Intron|TMC7_uc002dfq.3_Missense_Mutation_p.E333K|TMC7_uc010vap.2_Missense_Mutation_p.E223K	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	333						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTGCGGTACGAGCTCCGAGT	0.552000														59			18		0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55473528	55473528	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:55473528G>A	uc002ryn.3	-	10	1788	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	MTIF2_uc010yox.2_Missense_Mutation_p.P20S|MTIF2_uc002ryo.3_Missense_Mutation_p.P351S	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	351					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	p.D350Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGACCATTGGGATCTGCTTTC	0.388000														109			59		0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95568590	95568590	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:95568590T>C	uc001pfu.3	-	14	2049	c.1796A>G	c.(1795-1797)gAa>gGa	p.E599G	MTMR2_uc001pfv.3_Missense_Mutation_p.E527G|MTMR2_uc001pfs.3_Missense_Mutation_p.E527G|MTMR2_uc001pft.3_Missense_Mutation_p.E527G	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	599						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAAGAAGTTCTTTGTATCT	0.413000														87			6		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193096512	193096512	+	Missense_Mutation	SNP	C	T	T	rs143752942	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:193096512C>T	uc011bsq.2	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTTCTCTTCCATCTGAACTC	0.463000														151			40		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38813385	38813385	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:38813385C>T	uc021yzh.1	+	35	4990	c.4881C>T	c.(4879-4881)atC>atT	p.I1627I	DNAH8_uc003ooe.2_Silent_p.I1410I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.I1410I(2)|p.R1627H(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGGATATCGAAGCCAAGC	0.383000														91			14		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49994111	49994111	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:49994111C>T	uc002pny.3	+	4	354	c.332C>T	c.(331-333)cCc>cTc	p.P111L	RPL13A_uc002pnz.3_Missense_Mutation_p.P50L|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	111					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ATCCCACCGCCCTACGACAAG	0.572000														103			15		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890126	55890126	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55890126C>T	uc001nii.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTATATTTCCTTCACGGGC	0.423000														554			90		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1475206	1475206	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:1475206C>T	uc004cps.3	+	6	1058	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.R159C	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	237						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCGCAAATTTCGCTATGAGCT	0.463000														100			21		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377896	49377896	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:49377896A>G	uc002pky.4	+	1	1675	c.1406A>G	c.(1405-1407)cAt>cGt	p.H469R		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	469	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCAGACCCACATCCCTCCCAC	0.567000														111			26		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254945	51254946	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:51254945_51254946CC>TT	uc021vhh.1	-	0	1387_1388	c.466_467GG>AA	c.(466-468)ggg>AAg	p.G156K	NRXN1_uc021vhg.1_Missense_Mutation_p.G156K|NRXN1_uc021vhi.1_Missense_Mutation_p.G156K|NRXN1_uc021vhj.1_Missense_Mutation_p.G156K|NRXN1_uc021vhk.1_Missense_Mutation_p.G156K	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	156	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.K155K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGCAGCCCCCCGACGAAAAGG	0.663000														27			9		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106737219	106737219	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:106737219G>A	uc001kyi.1	+	3	1149	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	308						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGCAAGAGGACTGGGTGCT	0.458000														48			15		0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492051	87492051	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:87492051G>A	uc003kjc.3	-	11	1566	c.1441C>T	c.(1441-1443)Cac>Tac	p.H481Y	TMEM161B_uc011cty.2_Missense_Mutation_p.H470Y|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Missense_Mutation_p.H272Y	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	481						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGATACTGGTGATAGAAAAGC	0.378000														33			9		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101504229	101504229	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:101504229G>A	uc010svm.1	+	22	2769	c.2197G>A	c.(2197-2199)Gca>Aca	p.A733T	ANO4_uc001thw.2_Missense_Mutation_p.A698T|ANO4_uc001thx.2_Missense_Mutation_p.A733T|ANO4_uc001thy.2_Missense_Mutation_p.A253T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	733						chloride channel complex	chloride channel activity	p.G733R(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTTCCCCTAGCACCACTTCT	0.383000										HNSCC(74;0.22)				122			22		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120387884	120387884	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:120387884G>A	uc003vjj.1	+	5	2830	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	622					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TACTCAGGAGGAAATATTGTC	0.423000														80			6		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475216	31475216	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31475216C>T	uc003ntn.4	+	4	1048	c.932C>T	c.(931-933)cCa>cTa	p.P311L	MICB_uc011dnm.2_Missense_Mutation_p.P279L|MICB_uc003nto.4_Missense_Mutation_p.P268L	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	311					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACAGACTTTCCATATGTTTCT	0.463000														82			14		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122218820	122218820	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:122218820C>T	uc001ubb.3	-	3	484	c.429G>A	c.(427-429)cgG>cgA	p.R143R	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.4_Silent_p.R143R	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	143					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CCCGGAGCTTCCGCAGCTGCT	0.652000														39			5		0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44385092	44385092	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:44385092A>T	uc003bej.3	+	12	1374	c.1177A>T	c.(1177-1179)Aca>Tca	p.T393S	SAMM50_uc011aqd.2_Missense_Mutation_p.T183S|SAMM50_uc003bek.3_Missense_Mutation_p.T198S|SAMM50_uc021wqy.1_Non-coding_Transcript	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	393					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTTTTCCGAACACACTTCTT	0.488000														139			28		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303236	7303236	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7303236C>T	uc001qss.3	+	13	2916	c.2378C>T	c.(2377-2379)tCc>tTc	p.S793F	CLSTN3_uc001qsr.3_Missense_Mutation_p.S781F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	781					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TTCCGGCTTTCCTGCTCGGAA	0.557000														109			34		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807734	86807734	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:86807734C>T	uc002blz.1	+	9	1274	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	AGBL1_uc002bma.1_Silent_p.S129S|AGBL1_uc002bmb.1_Silent_p.S92S	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	398					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTGCAATCCAATAGTCTCA	0.483000														86			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974717	20974717	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:20974717C>T	uc010vbe.2	-	52	10489	c.10489G>A	c.(10489-10491)Gga>Aga	p.G3497R	DNAH3_uc010vbd.2_Missense_Mutation_p.G932R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3497	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACAGCTTTCCCATATGTTCA	0.488000														63			7		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110845216	110845216	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:110845216G>A	uc001vqw.4	-	22	1548	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	476	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R476R(2)|p.R476W(2)|p.R470W(1)|p.R470R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAGGCCCCCGATATCCGTCT	0.498000														98			32		0	0	1	0	0
NPVF	64111	broad.mit.edu	37	7	25266532	25266532	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:25266532G>A	uc003sxo.3	-	1	299	c.252C>T	c.(250-252)tcC>tcT	p.S84S		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	84					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGTTGGCGAAGGAGTGTGGCA	0.428000														226			31		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653399	19653399	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:19653399C>T	uc002ykw.3	-	21	2657	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	876	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343000														187			28		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52960700	52960700	+	Missense_Mutation	SNP	G	A	A	rs143324533		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:52960700G>A	uc003gzl.3	+	11	1849	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.R492Q	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	524					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGATGTCTCGAAGTCGGAGT	0.343000														48			31		0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48649519	48649519	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:48649519G>A	uc004dkq.4	+	1	94	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	1					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(16)|p.M1I(12)|p.M1V(4)|p.M1N(2)|p.M1R(1)|p.M1T(1)|p.M1L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GAGGCTCCATGGAGTTCCCTG	0.587000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									13			8		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825495	4825495	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4825495G>A	uc021qcs.1	-	0	116	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACAGCCACAGCATACGTGGC	0.512000														49			10		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35445942	35445942	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:35445942C>T	uc002hnm.3	-	54	7039	c.6848G>A	c.(6847-6849)gGt>gAt	p.G2283D	ACACA_uc002hnk.3_Missense_Mutation_p.G2205D|ACACA_uc002hnl.3_Missense_Mutation_p.G2225D|ACACA_uc002hnn.3_Missense_Mutation_p.G2283D|ACACA_uc002hno.3_Missense_Mutation_p.G2320D|ACACA_uc010cuy.3_Missense_Mutation_p.G928D|ACACA_uc010wdb.2_Missense_Mutation_p.G321D|ACACA_uc010wdc.2_Missense_Mutation_p.G409D	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2283					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGAGTGAACACCATCCTCCTC	0.483000														176			84		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314064	54314064	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:54314064G>A	uc002qcj.4	-	2	1069	c.849C>T	c.(847-849)atC>atT	p.I283I	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.I283I|NLRP12_uc002qci.4_Silent_p.I283I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.I283I	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	283	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGAACTCGGATGAGCTCCT	0.592000														54			11		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657121	81657121	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:81657121G>A	uc001szo.2	-	30	3762	c.3601C>T	c.(3601-3603)Cct>Tct	p.P1201S	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.P1100S|PPFIA2_uc021rbh.1_Missense_Mutation_p.P1096S|PPFIA2_uc021rbi.1_Missense_Mutation_p.P1195S|PPFIA2_uc021rbj.1_Missense_Mutation_p.P1180S|PPFIA2_uc021rbk.1_Missense_Mutation_p.P1186S|PPFIA2_uc021rbl.1_Missense_Mutation_p.P1201S|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.P737S|PPFIA2_uc021rbf.1_Missense_Mutation_p.P387S	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1101										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCACGAGGAGGAAACTGCCTT	0.438000														44			19		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138774	138774	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrGL000213.1:138774C>T	uc011mfl.1	-	0	562	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	172			E -> Q.			plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TACCTCTTTTCCTTGTCCCTC	0.582000														33			10		0	0	1	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288233	36288233	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:36288233C>T	uc010wdk.1	+	4	503	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	TBC1D3_uc002hoo.2_Missense_Mutation_p.R107W|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.R27W|TBC1D3_uc010cvf.1_Missense_Mutation_p.R107W|TBC1D3_uc002hoq.2_Missense_Mutation_p.R107W|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	107	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGAACATCCGGGGCCCGAT	0.552000														578			36		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154474134	154474134	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:154474134G>A	uc001ffb.3	-	0	393	c.369C>T	c.(367-369)tcC>tcT	p.S123S	SHE_uc001ffc.3_Non-coding_Transcript|TDRD10_uc001ffd.3_5'Flank|TDRD10_uc009wow.3_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	123								p.N122D(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTGGCCCGGGAGTTTTTGC	0.682000														22			15		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99155400	99155400	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:99155400G>A	uc002syy.3	+	8	1019	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	INPP4A_uc010yvj.1_Missense_Mutation_p.R209Q|INPP4A_uc010yvk.2_Missense_Mutation_p.R209Q|INPP4A_uc002syx.3_Missense_Mutation_p.R209Q|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	209					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.R209*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTAGGAATCCGATCCAAATAC	0.453000														29			3		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595812	3595812	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:3595812G>A	uc002lyg.2	-	2	1293	c.906C>T	c.(904-906)atC>atT	p.I302I	TBXA2R_uc021umv.1_Silent_p.I302I	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	302					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGGGGTCCAGGATCTGGTTCC	0.692000														17			4		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805905	70805905	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:70805905G>A	uc003kbp.1	+	16	3249	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	BDP1_uc003kbn.1_Missense_Mutation_p.E996K|BDP1_uc003kbo.3_Missense_Mutation_p.E996K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	996	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCCCCAAGGGAAAATGGCCC	0.463000														87			22		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355450	10355450	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:10355450C>T	uc002gmn.3	-	26	3657	c.3546G>A	c.(3544-3546)ctG>ctA	p.L1182L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1182					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGACTCTTCCAGGTCCCTGC	0.577000														208			31		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51020221	51020221	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:51020221A>G	uc003bmv.3	-	2	622	c.404T>C	c.(403-405)cTg>cCg	p.L135P	CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Intron|CHKB_uc003bmu.3_Missense_Mutation_p.L14P|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	135					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACTCCGTACAGCTGGGGCCC	0.622000														121			37		0	0	1	0	0
MT1G	4495	broad.mit.edu	37	16	56701977	56701977	+	Splice_Site	SNP	T	A	A	rs78780944	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:56701977T>A	uc002eju.1	-	1	1	c.-71_splice	c.e1-1		MT1G_uc002ejv.1_Splice_Site|MT1H_uc002ejw.3_5'Flank	NM_005950	NP_005941	P13640	MT1G_HUMAN	Homo sapiens metallothionein 1G (MT1G), mRNA.								metal ion binding|protein binding			kidney(2)|large_intestine(1)|lung(2)	5						GAAGGCGGAGTGGAGCCCAAC	0.672000														42			4		0	0	1	0	0
IGLL3P	91353	broad.mit.edu	37	22	25716053	25716053	+	RNA	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:25716053G>A	uc021wnj.1	+	2		c.535G>A								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						AATGTTCATAGGTTCCCAGCC	0.632000														46			18		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172634262	172634262	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:172634262G>A	uc003fin.4	-	8	1532	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	450					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAGGATGCAGGAAAACTCCCC	0.473000														185			79		0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11135392	11135392	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:11135392A>G	uc004cul.2	+	3	438	c.258A>G	c.(256-258)ccA>ccG	p.P86P	HCCS_uc004cuk.3_Silent_p.P86P|HCCS_uc004cuj.3_Silent_p.P86P	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	86					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	p.M85I(1)		kidney(1)|large_intestine(3)|lung(3)	7						TTTAGATGCCACCACCAAATC	0.368000														128			50		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158813902C>T	uc001fsz.1	+	3	760	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	187					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAACACTTCGTTTACTCCG	0.493000														157			29		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676310	11676310	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:11676310C>T	uc021zzo.1	-	1	721	c.469G>A	c.(469-471)Gag>Aag	p.E157K	THSD7A_uc021zzn.1_Missense_Mutation_p.E157K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	157						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACGCTATCTCCCTCACCTGA	0.502000										HNSCC(18;0.044)				64			19		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57908737	57908737	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:57908737G>A	uc001sog.3	+	17	2254	c.2100_splice	c.e17-1	p.R700_splice	MARS_uc001sof.1_Splice_Site|MARS_uc010srq.1_Splice_Site_p.R466_splice|MARS_uc001soh.1_Splice_Site_p.R95_splice	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	700					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCTTCCCAGGATCCGGGATG	0.507000														65			59		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680245	95680245	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:95680245C>T	uc003ygq.4	+	9	1183	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	ESRP1_uc003ygr.4_Missense_Mutation_p.P334S|ESRP1_uc003ygs.4_Missense_Mutation_p.P334S|ESRP1_uc003ygt.4_Missense_Mutation_p.P334S|ESRP1_uc003ygu.4_Missense_Mutation_p.P334S|ESRP1_uc003ygv.3_Missense_Mutation_p.P174S|ESRP1_uc003ygw.3_Missense_Mutation_p.P174S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	334	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCGGGGGCTCCCTTTCACGGC	0.507000														78			11		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33510488	33510488	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:33510488C>T	uc002hja.3	+	18	2519	c.2422C>T	c.(2422-2424)Ctg>Ttg	p.L808L	UNC45B_uc002hjb.3_Silent_p.L806L|UNC45B_uc002hjc.3_Silent_p.L806L|UNC45B_uc010cto.3_Silent_p.L727L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	808					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCGGCTGAAGCTGGTGGTGCT	0.572000														47			11		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510515	5510515	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5510515C>T	uc010qzg.2	+	0	601	c.579C>T	c.(577-579)gcC>gcT	p.A193A	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCTGTGCCAACATCACTG	0.517000														220			45		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64568397	64568397	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:64568397G>A	uc001obh.3	-	8	729	c.637C>T	c.(637-639)Cct>Tct	p.P213S	MAP4K2_uc001obi.3_Missense_Mutation_p.P213S	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	213	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGGAACAGAGGGGGCTGCAGC	0.647000														80			14		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072405	234072405	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:234072405G>A	uc010zmo.2	+	10	1359	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	INPP5D_uc010zmp.2_Silent_p.Q401Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	431					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAAGGGGCAGGGAAAGACGC	0.567000														169			55		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456128	65456128	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:65456128G>A	uc003dmn.3	-	4	1315	c.789C>T	c.(787-789)ctC>ctT	p.L263L	MAGI1_uc003dmm.3_Silent_p.L263L|MAGI1_uc003dmo.3_Silent_p.L263L|MAGI1_uc003dmp.3_Silent_p.L263L|MAGI1_uc010hny.2_Silent_p.L148L|MAGI1_uc021xac.1_Silent_p.L264L|MAGI1_uc003dmr.3_Silent_p.L264L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	263	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGTTTCTTGGAGAGTGTGCT	0.448000														118			14		0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959221	70959221	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:70959221C>T	uc002asr.3	-	15	3906	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	UACA_uc010uke.2_Missense_Mutation_p.E1159K|UACA_uc002asq.3_Missense_Mutation_p.E1255K|UACA_uc010bin.1_Missense_Mutation_p.E1243K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1268						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCAGATATTTCCTTCTTTTTG	0.353000														103			39		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832854	113832854	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:113832854C>T	uc002tiu.3	+	4	447	c.372C>T	c.(370-372)ggC>ggT	p.G124G	IL1F10_uc002tiv.3_Silent_p.G124G|IL1F10_uc002tiw.3_Silent_p.G116G	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	124						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCTGTGTGGCCCGGCAGAGC	0.597000														176			25		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482815	76482815	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:76482815G>A	uc002fex.1	+	4	1042	c.903G>A	c.(901-903)cgG>cgA	p.R301R	CNTNAP4_uc002feu.1_Silent_p.R297R|CNTNAP4_uc002fev.1_Silent_p.R210R|CNTNAP4_uc010chb.1_Silent_p.R273R|CNTNAP4_uc002few.2_Silent_p.R273R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	298	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCCATGCACGGGGAGAATTCA	0.413000														27			3		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4043500	4043500	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:4043500C>T	uc002cvx.3	-	3	2435	c.1896G>A	c.(1894-1896)tcG>tcA	p.S632S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	632					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATTCCGCACGAAGGGCAGG	0.552000														76			7		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63679852	63679852	+	Silent	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:63679852T>C	uc011kdn.2	+	3	423	c.423T>C	c.(421-423)ggT>ggC	p.G141G		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ACAAAGGAGGTTATAATGACC	0.299000														33			25		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975448	183975448	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:183975448C>T	uc003fni.4	+	1	422	c.384C>T	c.(382-384)ctC>ctT	p.L128L	ECE2_uc003fnh.4_Silent_p.L128L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	128	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGTGGTGCTCGAGAAGGGCA	0.612000														57			36		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428411	56428411	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:56428411G>A	uc001sjb.1	+	8	1213	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	IKZF4_uc010sqa.1_Missense_Mutation_p.G305S|IKZF4_uc001sjc.1_Missense_Mutation_p.G352S|IKZF4_uc001sjd.1_Missense_Mutation_p.G250S|IKZF4_uc009zoi.1_Missense_Mutation_p.G307S|IKZF4_uc001sje.1_Missense_Mutation_p.G311S	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	352					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I351M(1)		NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACTCGGGTGGCTATGAAAA	0.567000														159			19		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917300	26917300	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:26917300G>A	uc001wqa.3	-	5	1809	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NOVA1_uc001wpy.3_Silent_p.F463F|NOVA1_uc001wpz.3_Silent_p.F439F	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	466	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCCAGGTACGAATTCTCCTT	0.423000														49			16		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108332	168108332	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:168108332G>A	uc002udx.3	+	8	10519	c.10430G>A	c.(10429-10431)aGa>aAa	p.R3477K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3302K|XIRP2_uc010fpq.3_Missense_Mutation_p.R3255K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3302					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGAAGTAAGAAAAAATTTT	0.433000														102			15		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111141831	111141831	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:111141831G>A	uc001vqx.3	+	34	3536	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1083	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.E1083D(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGTATGGCGAGATTGGCGC	0.512000														129			15		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280068	66280068	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:66280068G>A	uc003hcy.3	-	6	1814	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	EPHA5_uc003hcx.3_Nonsense_Mutation_p.R472*|EPHA5_uc003hcz.3_Nonsense_Mutation_p.R541*|EPHA5_uc011cah.2_Nonsense_Mutation_p.R541*|EPHA5_uc011cai.2_Nonsense_Mutation_p.R541*|EPHA5_uc003hda.2_Nonsense_Mutation_p.R541*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	541	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTACGTGCTCGAATTTGGAAG	0.433000										TSP Lung(17;0.13)				111			76		0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426737	47426737	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:47426737C>T	uc011mlp.2	+	9	1176	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	ARAF_uc011mln.2_Non-coding_Transcript|ARAF_uc011mlo.2_Missense_Mutation_p.R194W|ARAF_uc004dic.1_Missense_Mutation_p.R109W	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	328	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GTTTCGAGGGCGGTGGCATGG	0.617000														39			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227189	21227189	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:21227189C>T	uc002red.3	-	27	12167	c.12039G>A	c.(12037-12039)atG>atA	p.M4013I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4013					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTTCATCCATATCCATGC	0.532000														92			28		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99901387	99901387	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:99901387C>T	uc004egb.3	+	1	548	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	23					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.T22K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCAGTGACACCAACATGGTAT	0.453000														133			20		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874951	80874951	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:80874951C>T	uc010ysh.2	+	17	2821	c.2816C>T	c.(2815-2817)tCg>tTg	p.S939L	CTNNA2_uc010yse.2_Missense_Mutation_p.S891L|CTNNA2_uc010ysf.2_Missense_Mutation_p.S891L|CTNNA2_uc010ysg.2_Missense_Mutation_p.S846L|CTNNA2_uc010ysi.2_Missense_Mutation_p.S523L|CTNNA2_uc010ysj.2_Missense_Mutation_p.S220L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	939					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAACACATTTCGCCTGTACAG	0.403000														223			59		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396376	22396376	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:22396376C>T	uc001mqk.3	+	8	1530	c.1117C>T	c.(1117-1119)Cta>Tta	p.L373L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	373					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAGATTTTCTAAGAAGCAA	0.388000														178			62		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88721186	88721186	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:88721186A>G	uc002flg.1	-	7	934	c.927T>C	c.(925-927)aaT>aaC	p.N309N	MVD_uc002flf.1_Silent_p.N178N	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	309					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGATCACGGCATTGGGGCCCG	0.612000														41			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141274532	141274532	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:141274532C>T	uc002tvj.1	-	49	9047	c.8075G>A	c.(8074-8076)gGa>gAa	p.G2692E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2692	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATGCATCTTCCACTAGGACA	0.328000										TSP Lung(27;0.18)				54			14		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1517262	1517262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:1517262C>T	uc003skn.2	-	34	4963	c.4862G>A	c.(4861-4863)tGg>tAg	p.W1621*		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1621					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CATTTCCAGCCAGTCCACTAG	0.692000														14			4		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62255041	62255041	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:62255041G>A	uc002agz.3	-	32	3433	c.3342C>T	c.(3340-3342)tcC>tcT	p.S1114S	VPS13C_uc002aha.3_Silent_p.S1071S|VPS13C_uc002ahb.2_Silent_p.S1114S|VPS13C_uc002ahc.2_Silent_p.S1071S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1114					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAGAAAGGGAGGAATCCAGTC	0.343000														51			4		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258333	56258333	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:56258333C>T	uc001nix.1	-	0	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGATTAATTTCATTGGGGCCA	0.498000														113			18		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2616640	2616640	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:2616640A>T	uc002wgf.1	+	17	2390	c.2375A>T	c.(2374-2376)aAa>aTa	p.K792I	TMC2_uc002wgg.1_Missense_Mutation_p.K776I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	792						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGAGGAAGAAAATCCAAGTG	0.458000														66			10		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244685	77244685	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:77244685C>T	uc001syk.1	+	16	1982	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	607					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGCCTCTTTCGTCCTGTTAT	0.418000														163			29		0	0	1	0	0
RNASE4	6038	broad.mit.edu	37	14	21167970	21167970	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:21167970G>A	uc021rol.1	+	0	440	c.440G>A	c.(439-441)gGt>gAt	p.G147D	RNASE4_uc001vxy.4_Missense_Mutation_p.G147D|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.G147D	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	147					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CACTTTGACGGTTAGATGCCA	0.512000														122			50		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417170	150417170	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150417170C>T	uc003whq.3	+	2	218	c.78C>T	c.(76-78)tcC>tcT	p.S26S	GIMAP1-GIMAP5_uc022apw.1_Silent_p.S26S	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGCAGGAGTCCACGCGGAGGC	0.552000														495			43		0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														20			4		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120072035	120072035	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:120072035G>A	uc003icp.4	+	2	298	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	29							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGATGTTGATGGCATGGACCT	0.373000														90			60		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:22383340C>T	uc001yuc.1	+	6	1849	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.R290C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATACCCTTCGCAACCAGGA	0.413000														246			13		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021632	132021632	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:132021632G>A	uc002tsn.2	+	14	2656	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.G468G|POTEE_uc002tsl.2_Silent_p.G450G|POTEE_uc010fmy.1_Silent_p.G332G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	868	Actin-like.						ATP binding										TCTATGAGGGGAATGCCCTCC	0.617000														105			29		0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27462185	27462185	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:27462185C>T	uc001itm.3	+	8	2866	c.2263C>T	c.(2263-2265)Cat>Tat	p.H755Y	MASTL_uc001itl.3_Missense_Mutation_p.H754Y|MASTL_uc009xkw.2_Missense_Mutation_p.H754Y|MASTL_uc009xkx.2_Intron	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	755	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGGGCCCATGGTAAGGC	0.438000														163			75		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337129	57337129	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:57337129C>T	uc004dvc.3	+	2	528	c.379C>T	c.(379-381)Cct>Tct	p.P127S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	127						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CCTTGGGGTTCCTTTGACAGT	0.408000										HNSCC(52;0.14)				54			24		0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30516869	30516869	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:30516869C>T	uc001msr.3	-	2	631	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MPPED2_uc001msq.3_Silent_p.K170K|MPPED2_uc009yji.3_Silent_p.K44K	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	170					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TCCTGAATCCCTTCACTGTTA	0.408000														69			16		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246934	57246934	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:57246934G>A	uc003pdx.3	+	6	748	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PRIM2_uc003pdw.3_Missense_Mutation_p.E221K	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	221					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATCCTGAATGAATTTAGAGC	0.393000														86			5		0	0	1	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927470	14927470	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:14927470G>A	uc009zia.3	+	0	201	c.66G>A	c.(64-66)gcG>gcA	p.A22A	H2AFJ_uc001rch.4_Non-coding_Transcript	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	Homo sapiens H2A histone family, member J (H2AFJ), transcript variant 1, mRNA.	22					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CCTCCCGCGCGGGCCTGCAGT	0.677000														65			9		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50717097	50717097	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50717097G>A	uc003bkv.4	-	28	4668	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	PLXNB2_uc003bkt.1_Silent_p.I317I|PLXNB2_uc003bku.1_Silent_p.I510I	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1525					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCCGACAGGATCTGCGCTG	0.652000														28			7		0	0	1	0	0
PLEKHB1	58473	broad.mit.edu	37	11	73366936	73366936	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:73366936T>C	uc001oua.3	+	5	910	c.479T>C	c.(478-480)gTt>gCt	p.V160A	PLEKHB1_uc001oub.3_Intron|PLEKHB1_uc001ouc.3_Missense_Mutation_p.V141A|PLEKHB1_uc001oud.3_Intron|PLEKHB1_uc009ytq.3_Intron	NM_021200	NP_001123506	Q9UF11	PKHB1_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1 (PLEKHB1), transcript variant 1, mRNA.	160					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CCCTGTAAGGTTGAGAGGCGG	0.652000														64			9		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596868	72596868	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:72596868G>A	uc003pga.3	+	0	219	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	48	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGAAGAGGAGGAAAAAGAAGA	0.597000														9			3		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89869877	89869877	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:89869877G>A	uc002bns.4	-	8	1960	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	POLG_uc002bnr.4_Missense_Mutation_p.P560S	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	560					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGCCGCTTGGGCAGGAGCTCT	0.622000								DNA polymerases (catalytic subunits)						62			33		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269396	150269396	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150269396G>A	uc003whl.3	+	2	320	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.E94K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	80							GTP binding	p.E80*(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGGAAACAGAACTTGTCGT	0.488000														95			14		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018251	51018251	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:51018251A>G	uc003bmv.3	-	8	1154	c.936T>C	c.(934-936)ttT>ttC	p.F312F	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Silent_p.F103F|CHKB_uc003bmu.3_Silent_p.F191F	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	312					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AATGACGAATAAAATGCAACT	0.488000														146			44		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47306864	47306864	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:47306864G>C	uc004dhs.4	-	3	2498	c.2431C>G	c.(2431-2433)Cat>Gat	p.H811D	ZNF41_uc004dhu.4_Missense_Mutation_p.H803D|ZNF41_uc004dht.4_Missense_Mutation_p.H683D|ZNF41_uc004dhv.4_Missense_Mutation_p.H779D|ZNF41_uc004dhw.4_Missense_Mutation_p.H771D|ZNF41_uc004dhy.4_Missense_Mutation_p.H769D|ZNF41_uc004dhx.4_Missense_Mutation_p.H769D|ZNF41_uc011mlm.2_Missense_Mutation_p.H683D	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	811						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCCACTATGCATTTTCTGG	0.403000														104			50		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123509272	123509272	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:123509272C>T	uc003vlc.3	+	2	1583	c.945C>T	c.(943-945)ttC>ttT	p.F315F	HYAL4_uc011knz.2_Silent_p.F315F	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	315					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTATTTTTCCTTTCTAAGG	0.378000														55			5		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455039	84455039	+	Missense_Mutation	SNP	G	A	A	rs144169256		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:84455039G>A	uc001vlk.3	-	0	1490	c.604C>T	c.(604-606)Cct>Tct	p.P202S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	202						integral to membrane		p.P202S(2)|p.P202H(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAATACCAGGGATTTGCTCC	0.542000														74			27		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131247677	131247677	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:131247677G>A	uc004bvc.3	+	12	1602	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	ODF2_uc011maz.2_Missense_Mutation_p.E442K|ODF2_uc011mbc.2_Missense_Mutation_p.E361K|ODF2_uc022boj.1_Missense_Mutation_p.E467K|ODF2_uc004bva.3_Missense_Mutation_p.E486K|ODF2_uc004bvb.3_Missense_Mutation_p.E418K|ODF2_uc011mbd.2_Missense_Mutation_p.E442K|ODF2_uc011mbe.2_Missense_Mutation_p.E437K|ODF2_uc010myc.3_Missense_Mutation_p.E385K|ODF2_uc011mbf.2_Missense_Mutation_p.E423K|ODF2_uc004bvd.4_Missense_Mutation_p.E442K|ODF2_uc004bve.3_Missense_Mutation_p.E423K|BC094874_uc004bvg.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	442					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATCCACTCTGGAATCCTGGAG	0.502000														19			6		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166895983	166895983	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166895983G>T	uc002udo.4	-	15	2766	c.2539C>A	c.(2539-2541)Ctt>Att	p.L847I	SCN1A_uc010fpk.3_Missense_Mutation_p.L819I|SCN1A_uc021vsb.1_Missense_Mutation_p.L836I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	847						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCGAGTCCAAGTTCTACCAGG	0.348000														63			8		0.0477658	0.0478046	1	1	0
NEK5	341676	broad.mit.edu	37	13	52684496	52684496	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:52684496A>G	uc001vge.3	-	6	587	c.447T>C	c.(445-447)ggT>ggC	p.G149G		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	149	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTTGCTATACCAAAGTCCC	0.318000														76			29		0	0	1	0	0
C2orf18	54978	broad.mit.edu	37	2	26997180	26997180	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:26997180C>T	uc002rhp.1	+	1	215	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	C2orf18_uc002rhq.1_Missense_Mutation_p.S21F|C2orf18_uc010eyo.1_Intron|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	47						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCAGCATCCCTTCCTCCA	0.622000														81			29		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060506	8060506	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:8060506C>T	uc001mfy.3	+	0	327	c.86C>T	c.(85-87)cCc>cTc	p.P29L	TUB_uc010rbk.2_Intron	NM_003320	NP_003311	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 1, mRNA.	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTCCCTGGCCCATGGGATCT	0.557000														114			54		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145628356	145628356	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:145628356C>T	uc003ijs.2	+	5	1781	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	367						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.Y366C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTGTACATCATTCTTGGTG	0.433000														101			15		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41570923	41570923	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:41570923C>T	uc002idu.1	+	6	1046	c.974C>T	c.(973-975)tCc>tTc	p.S325F	DHX8_uc010wif.1_Missense_Mutation_p.S234F|DHX8_uc010wig.2_Missense_Mutation_p.S325F	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	325	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAAGTGCTGTCCTTCACTGGG	0.552000														95			50		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640777	179640777	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179640777G>A	uc021vsy.1	-	27	6039	c.5814C>T	c.(5812-5814)gtC>gtT	p.V1938V	TTN_uc021vsz.1_Silent_p.V1892V|TTN_uc021vta.1_Silent_p.V1892V|TTN_uc021vtb.1_Silent_p.V1892V|TTN_uc002unb.2_Silent_p.V1938V|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1938							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1892V(3)|p.V1938V(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTAAGGACAGACCTAA	0.453000														237			79		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691977	106691977	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:106691977C>T	uc021ser.1	-	1156		c.25016G>A								Parts of antibodies, mostly variable regions.																		ACACTGGACACCTGCAAACAG	0.522000														287			26		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18264850	18264850	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:18264850G>A	uc004cyl.2	-	12	1826	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P557S|SCML2_uc011miz.1_Missense_Mutation_p.P491S|SCML2_uc010nfc.2_Missense_Mutation_p.P293S	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	557					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTACAGGCAGGATTCAAATAA	0.423000														121			55		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909164	123909164	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:123909164G>A	uc001pzq.1	-	0	545	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)|p.P181Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTTCAGGATGGGCGGTGCGTC	0.537000														417			51		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268655	92268655	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:92268655G>A	uc001xzu.4	-	3	603	c.412C>T	c.(412-414)Cct>Tct	p.P138S	TC2N_uc001xzt.4_Missense_Mutation_p.P138S|TC2N_uc010auc.3_Missense_Mutation_p.P138S|TC2N_uc001xzv.4_Missense_Mutation_p.P138S	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	138						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTCAAATCAGGTGAAATGTGC	0.428000														99			27		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82333695	82333695	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:82333695G>A	uc004ald.3	+	15	2323	c.1474G>A	c.(1474-1476)Gac>Aac	p.D492N	TLE4_uc004alc.3_Missense_Mutation_p.D467N|TLE4_uc010mpr.3_Missense_Mutation_p.D346N|TLE4_uc004ale.3_Missense_Mutation_p.D104N|TLE4_uc011lsq.2_Missense_Mutation_p.D435N|TLE4_uc010mps.3_Missense_Mutation_p.D391N|TLE4_uc004alf.3_Missense_Mutation_p.D406N	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTTCCACCCGACGCCCTCAT	0.562000														80			14		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414348	22414348	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:22414348C>T	uc001yuf.3	+	0	887	c.647C>T	c.(646-648)gCt>gTt	p.A216V	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GAAGTGAAAGCTTCCATGAAA	0.353000														139			19		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547161	37547161	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:37547161C>T	uc002xje.3	+	10	1745	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	PPP1R16B_uc010ggc.3_Missense_Mutation_p.P477L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	519					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCAAGGCCCCCTTGATCGGA	0.607000														66			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538490	55538490	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:55538490C>T	uc003xsd.1	+	3	2196	c.2048C>T	c.(2047-2049)tCc>tTc	p.S683F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	683					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAATAAATTCCAGGTATCAA	0.338000														53			10		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058175	43058175	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:43058175C>T	uc002xma.3	+	9	1384	c.1295C>T	c.(1294-1296)aCc>aTc	p.T432I	HNF4A_uc002xlu.3_Missense_Mutation_p.T400I|HNF4A_uc002xlv.3_Missense_Mutation_p.T410I|HNF4A_uc010ggq.3_Missense_Mutation_p.T425I|HNF4A_uc002xlz.3_Missense_Mutation_p.T422I	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	432					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCTGAGACCCCACAGCCC	0.612000														204			62		0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80975499	80975499	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:80975499C>T	uc003hlz.4	-	6	1326	c.563G>A	c.(562-564)aGa>aAa	p.R188K	ANTXR2_uc003hly.4_Missense_Mutation_p.R188K|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.R188K	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	188	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						ATCAGCAATTCTTTCAAGCTT	0.368000									Juvenile Hyaline Fibromatosis					67			31		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805042	7805042	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:7805042C>T	uc001aoi.3	+	16	4537	c.4330C>T	c.(4330-4332)Cta>Tta	p.L1444L	CAMTA1_uc010nzv.1_Silent_p.L531L|CAMTA1_uc001aok.4_Silent_p.L487L|CAMTA1_uc001aoj.3_Silent_p.L400L|CAMTA1_uc009vmf.3_Silent_p.L48L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCCAGTTATCTAGCGGATGC	0.527000			T	WWTR1	epitheliod hemangioendothelioma									70			34		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383009	31383009	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:31383009C>T	uc002ebt.3	+	16	2131	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	ITGAX_uc002ebu.1_Silent_p.P688P	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	688					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.S687I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCTGAGTCCCCGTGCCACCT	0.617000														69			9		0	0	1	0	0
MMGT1	93380	broad.mit.edu	37	X	135047232	135047232	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:135047232G>A	uc011mvw.1	-	4	624	c.542C>T	c.(541-543)tCc>tTc	p.S181F	MMGT1_uc022cet.1_Missense_Mutation_p.S86F|MMGT1_uc004ezi.1_Missense_Mutation_p.S116F	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	Homo sapiens membrane magnesium transporter 1 (MMGT1), mRNA.	116						Golgi membrane|early endosome membrane|endoplasmic reticulum membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGTGTTAGAGGACAATGCATC	0.378000														308			50		0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5140227	5140227	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:5140227A>G	uc002cyo.2	-	5	649	c.600T>C	c.(598-600)aaT>aaC	p.N200N	FAM86A_uc002cyp.2_Silent_p.N166N	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	200										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGAGAAGGACATTCCCTCGGA	0.617000														78			33		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775435	128775435	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:128775435G>A	uc010fmd.2	-	2	377	c.245C>T	c.(244-246)tCc>tTc	p.S82F	SAP130_uc002tpp.2_Missense_Mutation_p.S82F|SAP130_uc002tpq.1_Missense_Mutation_p.S56F	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	82	Poly-Ser.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAGCTGCTGGAACTCATGTG	0.512000														84			33		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72502751	72502751	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:72502751G>A	uc002aty.2	-	3	599	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKM2_uc010bit.1_Silent_p.Y110Y|PKM2_uc010uki.2_Silent_p.Y179Y|PKM2_uc002atx.2_Silent_p.Y105Y|PKM2_uc002atw.2_Silent_p.Y105Y|PKM2_uc010ukj.2_Silent_p.Y90Y|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Silent_p.Y140Y|PKM2_uc010biu.1_Silent_p.Y126Y	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	105					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	CAACGGGCCGGTAGAGGATGG	0.557000														107			38		0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149719	202149719	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:202149719G>A	uc002uxr.1	+	8	1192	c.983G>A	c.(982-984)gGa>gAa	p.G328E	CASP8_uc002uxq.1_Missense_Mutation_p.G313E|CASP8_uc002uxp.1_Missense_Mutation_p.G345E|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.G387E|CASP8_uc002uxw.1_Missense_Mutation_p.G313E|CASP8_uc010ftf.2_Missense_Mutation_p.G244E	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	328					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGCACTGATGGACAGGAGGCC	0.468000										HNSCC(4;0.00038)				167			64		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22192442	22192442	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22192442G>A	uc021rpa.1	+	1	345	c.217G>A	c.(217-219)Gat>Aat	p.D73N	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		CATCACAGGGGATAACCTGGT	0.463000														84			37		0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158523177	158523177	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:158523177C>T	uc003fcl.2	+	2	470	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MFSD1_uc011bow.2_Intron|MFSD1_uc003fcm.2_Intron|MFSD1_uc003fcn.2_Intron	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	81					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCACGAAATTCATGCTGCTGT	0.333000														318			31		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532368	47532368	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:47532368G>A	uc002zia.1	+	2	673	c.591G>A	c.(589-591)aaG>aaA	p.K197K	COL6A2_uc002zhz.1_Silent_p.K197K|COL6A2_uc002zhy.1_Silent_p.K197K	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	197	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGAACCTGAAGGAGCAGGGCC	0.697000														33			5		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				26			12		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048139	86048139	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:86048139C>T	uc003ycw.3	+	13	2478	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	LRRCC1_uc022awx.1_Missense_Mutation_p.S664L|LRRCC1_uc010maa.2_Missense_Mutation_p.S458L|LRRCC1_uc003ycy.3_Missense_Mutation_p.S737L	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	757					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCAAGGAATCACTAATATTT	0.353000														93			14		0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24024370	24024370	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:24024370G>A	uc004dba.4	-	2	697	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	147	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGACTCCCTCGATGTTTACGC	0.438000														148			17		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840152	150840152	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:150840152C>T	uc004fev.4	+	12	1670	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	446						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGCCTCTCCCACATCCCA	0.498000														114			63		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76886494	76886494	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76886494C>T	uc001oyb.2	+	17	2443	c.2171C>T	c.(2170-2172)aCc>aTc	p.T724I	MYO7A_uc010rsl.2_Missense_Mutation_p.T724I|MYO7A_uc010rsm.1_Missense_Mutation_p.T713I|MYO7A_uc001oyc.2_Missense_Mutation_p.T724I|MYO7A_uc001oyd.3_Missense_Mutation_p.T64I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	724	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATAGGCAAAACCAAGATCTTT	0.617000														124			105		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110497534	110497534	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:110497534G>A	uc004epc.2	-	2	454	c.263C>T	c.(262-264)tCc>tTc	p.S88F	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	88	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGCCAAACAGGAAAATGCAGA	0.463000														123			47		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61891073	61891073	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:61891073A>T	uc002eog.2	-	3	1572	c.617T>A	c.(616-618)gTt>gAt	p.V206D	CDH8_uc002eoh.3_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATACTATAAACCAACTTTGC	0.378000														81			26		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208369	58208369	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:58208369G>A	uc001vhq.1	+	0	2581	c.1689G>A	c.(1687-1689)ttG>ttA	p.L563L	PCDH17_uc010aec.1_Silent_p.L563L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.H562H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCGCACTTGGAGAGCAACG	0.617000														72			11		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691585	41691585	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:41691585C>T	uc003gvz.4	+	29	4625	c.4208C>T	c.(4207-4209)cCt>cTt	p.P1403L	LIMCH1_uc003gwe.4_Missense_Mutation_p.P916L|LIMCH1_uc003gvu.4_Missense_Mutation_p.P1019L|LIMCH1_uc003gvv.4_Missense_Mutation_p.P993L|LIMCH1_uc003gvw.4_Missense_Mutation_p.P992L|LIMCH1_uc003gvx.4_Missense_Mutation_p.P1005L|LIMCH1_uc003gvy.4_Missense_Mutation_p.P821L|LIMCH1_uc003gwa.4_Missense_Mutation_p.P833L|LIMCH1_uc011byu.2_Missense_Mutation_p.P852L|LIMCH1_uc003gwc.4_Missense_Mutation_p.P838L|LIMCH1_uc003gwd.4_Missense_Mutation_p.P826L|LIMCH1_uc011byv.2_Missense_Mutation_p.P769L|LIMCH1_uc011byw.2_Missense_Mutation_p.P292L	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1019					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTGGGCTTCCTTTGGGTAAA	0.403000														84			17		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380613	147380613	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:147380613C>T	uc021ovm.1	+	0	531	c.531C>T	c.(529-531)atC>atT	p.I177I	GJA8_uc001epu.2_Silent_p.I177I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	177					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGTTCCGGATCCTGCCTCTGT	0.577000														85			72		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782742	115782742	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:115782742G>A	uc003krx.4	-	19	3420	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	SEMA6A_uc010jck.3_Missense_Mutation_p.S887F|SEMA6A_uc011cwe.2_Missense_Mutation_p.S266F|SEMA6A_uc003krv.4_Missense_Mutation_p.S314F|SEMA6A_uc003krw.4_Missense_Mutation_p.S364F|SEMA6A_uc010jcj.3_Missense_Mutation_p.S431F	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	887					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGACCCAGGGAGGCCTCCCG	0.592000														146			32		0	0	1	0	0
BC029534	0	broad.mit.edu	37	6	25261443	25261443	+	RNA	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:25261443G>C	uc003nex.4	-	0		c.193C>G								Homo sapiens cDNA clone IMAGE:5297808.																		GGCCAGAACCGTCATCTTCCA	0.398000														9			6		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350096	100350096	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:100350096C>T	uc003uwj.3	+	13	2533	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	ZAN_uc003uwk.3_Missense_Mutation_p.P790S|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.	790	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)			ACCCACCATTCCCACAGAAAA	0.527000														183			17		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945676	7945676	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7945676G>A	uc009zfy.1	+	1	498	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	94					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V93A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCCGGTCAAGAAACAGAAGA	0.473000														61			38		0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61766969	61766969	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:61766969C>G	uc002jbg.3	+	10	1256	c.937C>G	c.(937-939)Cgc>Ggc	p.R313G	MAP3K3_uc002jbe.3_Missense_Mutation_p.R344G|MAP3K3_uc002jbf.3_Missense_Mutation_p.R344G|MAP3K3_uc002jbh.3_Missense_Mutation_p.R340G|MAP3K3_uc010wpo.2_Missense_Mutation_p.R228G|MAP3K3_uc010wpp.2_Missense_Mutation_p.R309G	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	313					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCCTCCAGCCGCTCCCTGAG	0.597000														19			4		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55791485	55791485	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:55791485G>A	uc002rzc.3	-	14	2916	c.2224C>T	c.(2224-2226)Cca>Tca	p.P742S	SMEK2_uc002rzb.3_Missense_Mutation_p.P657S|SMEK2_uc002rzd.3_Missense_Mutation_p.P710S|SMEK2_uc002ryz.3_Missense_Mutation_p.P169S|SMEK2_uc002rza.3_Missense_Mutation_p.P526S	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	742						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAATTATCTGGAAAATCATCT	0.348000														44			37		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784355	160784355	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160784355G>A	uc001fwu.3	+	3	926	c.876G>A	c.(874-876)gaG>gaA	p.E292E	LY9_uc010pjs.1_Silent_p.E292E|LY9_uc001fwv.3_Silent_p.E292E|LY9_uc001fww.3_Silent_p.E292E|LY9_uc001fwy.1_Silent_p.E194E|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	292	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAGCAAAGAGAGGGAAGAAG	0.547000														75			56		0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103431143	103431143	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:103431143G>A	uc004elw.3	+	3	881	c.570G>A	c.(568-570)gtG>gtA	p.V190V	FAM199X_uc004elx.3_Silent_p.V7V	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	190										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCACATAGGTGGAATATATTG	0.343000														75			16		0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46919221	46919221	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:46919221G>C	uc010wlr.2	+	1	231	c.152G>C	c.(151-153)cGt>cCt	p.R51P	CALCOCO2_uc010wlq.2_Intron|CALCOCO2_uc010wls.2_Missense_Mutation_p.R51P|CALCOCO2_uc002iof.3_Missense_Mutation_p.R51P|CALCOCO2_uc010wlp.2_Missense_Mutation_p.R51P	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	51					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTCATCCCTCGTCGAAAGGAT	0.433000														100			12		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457953	45457953	+	RNA	SNP	C	T	T	rs141588874	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:45457953C>T	uc001rol.3	-	0		c.1242G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AGGAATTTCTCTTTCAGCTTT	0.428000														86			23		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948005	133948005	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:133948005G>A	uc003ytw.3	+	24	4978	c.4937G>A	c.(4936-4938)cGa>cAa	p.R1646Q	TG_uc010mdw.3_Missense_Mutation_p.R405Q|TG_uc011ljb.2_Missense_Mutation_p.R79Q	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1646					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCAGAAACGAGATGCACTG	0.458000														54			9		0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112738393	112738393	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:112738393G>A	uc003dzr.3	-	0	163	c.102C>T	c.(100-102)gcC>gcT	p.A34A	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.A33A|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	34						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ACTCACCAAGGGCCGCGCCGG	0.721000														24			6		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709246	77709246	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:77709246G>A	uc001xtf.2	+	15	1400	c.1188_splice	c.e15-1	p.W396_splice	TMEM63C_uc010asq.1_Splice_Site_p.W396_splice	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	396						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTTCCCCAGGAAACACCTGT	0.547000														66			15		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032689	55032689	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55032689T>C	uc010rid.2	+	1	444	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	104						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAAGATGTTCTGTGAAGTGGA	0.537000														97			17		0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758545	99758545	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:99758545G>A	uc003utt.3	-	2	1484	c.467C>T	c.(466-468)tCc>tTc	p.S156F	C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.S94F|GAL3ST4_uc003utu.3_Missense_Mutation_p.S156F	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	156					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGGACAATGGAAAAAAAGAA	0.522000														101			7		0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172738	38172738	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:38172738G>A	uc002htp.3	+	4	427	c.313_splice	c.e4-1	p.A105_splice	CSF3_uc002hto.3_Splice_Site_p.A102_splice|CSF3_uc002htq.3_Splice_Site_p.A98_splice|CSF3_uc021tww.1_Splice_Site_p.A66_splice|CSF3_uc021twx.1_Splice_Site_p.A69_splice|CSF3_uc010wep.2_Splice_Site_p.A62_splice	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	105					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGTCTCACAGGCAGGCTGCTT	0.622000														160			87		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967066	96967066	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:96967066G>A	uc001kke.3	+	3	630	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	C10orf129_uc009xuu.1_Missense_Mutation_p.A79T	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	169					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGAAGCTATGGCCCCAGTTGT	0.498000														100			22		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920414	4920414	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4920414G>A	uc001qng.3	+	0	2073	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	KCNA6_uc021qtr.1_Missense_Mutation_p.D403N	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	403						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D402D(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATGACGATTCGCTTTT	0.572000										HNSCC(72;0.22)				93			58		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506297	11506297	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:11506297C>T	uc001qzw.1	-	3	774	c.737G>A	c.(736-738)gGa>gAa	p.G246E	PRB1_uc001qzu.1_Missense_Mutation_p.G114E|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	308	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)			TTTGTTGCCTCCTTGTGGGGG	0.612000														318			54		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372145	76372145	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:76372145G>A	uc001oxq.4	-	2	735	c.492C>T	c.(490-492)ctC>ctT	p.L164L	LRRC32_uc001oxr.4_Silent_p.L164L|LRRC32_uc010rsf.2_Silent_p.L164L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	164						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTGGCGGGTGAGGCGAGTCA	0.647000														95			7		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823866	70823866	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70823866G>A	uc004eae.2	+	7	1240	c.739G>A	c.(739-741)Gac>Aac	p.D247N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	247	Asp/Ser-rich.					nucleus		p.D247N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.552000														297			53		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107170364	107170364	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:107170364C>T	uc021ser.1	-	42		c.2602G>A								Parts of antibodies, mostly variable regions.																		CAGGTCCAGTCCATGGTGATG	0.493000														115			7		0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845063	32845063	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:32845063C>T	uc002nte.3	+	2	1599	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	ZNF507_uc002ntc.2_Missense_Mutation_p.R443C|ZNF507_uc010xrn.1_Missense_Mutation_p.R443C|ZNF507_uc002ntd.3_Missense_Mutation_p.R443C	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGATGTTTATCGTGCTGATAA	0.448000														151			23		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148583260	148583260	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:148583260G>A	uc003ewm.3	+	2	121	c.69_splice	c.e2-1	p.R23_splice		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	23					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTCCACAAAGGGAGAAGGTGT	0.398000														67			41		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191208	6191208	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:6191208G>A	uc010qzy.2	-	0	349	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCTAACAGGATAGCTGAC	0.493000														95			11		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387354	70387354	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70387354C>T	uc004dzd.2	+	6	1741	c.1407C>T	c.(1405-1407)acC>acT	p.T469T	NLGN3_uc004dzb.3_Silent_p.T449T|NLGN3_uc011mps.2_Silent_p.T429T|NLGN3_uc004dzc.3_Silent_p.T332T|NLGN3_uc004dze.3_Silent_p.T267T	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	469					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCCTGAGACCCGCCGTAAAA	0.562000														46			20		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7565729	7565729	+	Silent	SNP	C	T	T	rs148395326		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:7565729C>T	uc003mxp.1	+	6	1194	c.915C>T	c.(913-915)atC>atT	p.I305I	DSP_uc003mxq.1_Silent_p.I305I|DSP_uc021yle.1_Silent_p.I305I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	305	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		I -> F (in dbSNP:rs17604693).		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACACCAACATCGCTCAGAAAC	0.547000														49			36		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049212	42049212	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:42049212A>G	uc001cgz.4	-	3	2470	c.1257T>C	c.(1255-1257)ttT>ttC	p.F419F	HIVEP3_uc001cha.4_Silent_p.F419F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	419	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACACTTGCCAAAGATGATCT	0.607000														92			5		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976793	10976793	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:10976793G>A	uc003bvz.3	+	12	1688	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	552					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTGGGGCTATGGCATTGGCTG	0.562000														185			29		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169515827	169515827	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:169515827C>T	uc001ggg.1	-	10	1760	c.1615G>A	c.(1615-1617)Gca>Aca	p.A539T	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	539	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGTCTGCTGCCCTCTGGAGG	0.438000														56			79		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742068	41742068	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:41742068G>A	uc003azw.3	+	13	1737	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	523					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCATCAGGAGGAGATCGACG	0.607000														208			57		0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954158	64954158	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:64954158G>A	uc001xhf.3	-	2	974	c.791C>T	c.(790-792)tCc>tTc	p.S264F	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Missense_Mutation_p.S264F	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	264						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAATGGCAGGGATCCAGACAC	0.473000														161			24		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145636515	145636515	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:145636515C>T	uc003ijs.2	+	9	2291	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	537						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CACTCTGTCTCGGCACTAGTG	0.418000														103			18		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645671	51645671	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:51645671G>T	uc002pvv.1	+	0	114	c.45G>T	c.(43-45)agG>agT	p.R15S	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R15S|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R15S	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	15					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.E14D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGGGAGAGGGTGGAAGGAC	0.602000														37			5		0.000602214	0.000603686	1	1	0
SEC31B	25956	broad.mit.edu	37	10	102256891	102256891	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:102256891C>T	uc001krc.1	-	17	2238	c.2136_splice	c.e17+1	p.Q712_splice	SEC31B_uc010qpo.1_Splice_Site_p.Q711_splice|SEC31B_uc001krd.1_Splice_Site_p.Q249_splice|SEC31B_uc001krf.1_Splice_Site_p.Q249_splice|SEC31B_uc001kre.1_Splice_Site_p.Q249_splice|SEC31B_uc001krg.1_Splice_Site_p.Q281_splice	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	712					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAAGGGGTACCTGCAGAGCC	0.597000														44			9		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175431	117175431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:117175431C>T	uc003vjd.3	+	5	841	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	237	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCCTTTTTCAGGCTGGGCT	0.433000									Cystic Fibrosis					211			19		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183030	102183030	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:102183030G>A	uc003dvt.1	+	6	844	c.744G>A	c.(742-744)atG>atA	p.M248I	ZPLD1_uc003dvs.1_Missense_Mutation_p.M232I|ZPLD1_uc011bhg.1_Missense_Mutation_p.M232I	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	232	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGTTTTAATGGATTATTGCT	0.318000														75			18		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69185919	69185919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:69185919G>A	uc003hdx.3	-	11	1959	c.1606C>T	c.(1606-1608)Cga>Tga	p.R536*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.R518*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	536	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCTTCTGGTCGACGCCTACAC	0.363000														51			14		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140424	139140424	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:139140424C>T	uc021xrw.1	-	4	1022	c.742G>A	c.(742-744)Ggc>Agc	p.G248S		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	248					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACTTACCAGCCAGCATATGCA	0.428000														102			8		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57272840	57272840	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:57272840C>T	uc002elb.3	+	14	1962	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_uc002elc.3_Missense_Mutation_p.R562C|RSPRY1_uc002eld.3_Missense_Mutation_p.R562C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	562						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418000														67			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753560	13753560	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13753560C>T	uc003jfd.2	-	62	10696	c.10654G>A	c.(10654-10656)Gcc>Acc	p.A3552T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3552					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTCCGGGCTTTCATTTCC	0.408000									Kartagener syndrome					106			36		0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751942	26751942	+	Missense_Mutation	SNP	G	A	A	rs141345172		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:26751942G>A	uc001bmj.3	+	2	491	c.377G>A	c.(376-378)gGa>gAa	p.G126E	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	126					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CGGCCAAAAGGAAAGAGCATG	0.512000														164			38		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39577662	39577662	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39577662C>T	uc002hwp.1	-	5	1245	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	400	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GTGGCAATCTCGTTCTCCAAC	0.557000														79			14		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575771	12575771	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:12575771G>A	uc002mtv.4	-	3	1126	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF709_uc002mtw.4_Missense_Mutation_p.S290F|ZNF709_uc002mtx.4_Missense_Mutation_p.S322F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTTCTAAAGGAACTAGGAAA	0.373000														72			14		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117964916	117964916	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:117964916C>T	uc001two.2	-	12	1779	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	604					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGATTTCCTTCCAAGCT	0.443000														189			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923423	9923423	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:9923423G>A	uc010uym.2	-	9	2174	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	GRIN2A_uc002czo.4_Missense_Mutation_p.P622S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P465S|GRIN2A_uc002czr.4_Missense_Mutation_p.P622S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	622					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCTTTAGGATTCTGGACA	0.488000														74			39		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515201	56515201	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:56515201C>T	uc002qmj.3	+	1	182	c.182C>T	c.(181-183)tCc>tTc	p.S61F	NLRP5_uc002qmi.3_Missense_Mutation_p.S61F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	61	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCTTTTCCAGCTACGGG	0.433000														90			40		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452086	74452086	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:74452086A>G	uc002sko.1	-	23	3177	c.3175T>C	c.(3175-3177)Ttc>Ctc	p.F1059L	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.F1043L|SLC4A5_uc010ffc.1_Missense_Mutation_p.F962L|SLC4A5_uc002skp.1_Missense_Mutation_p.F941L|SLC4A5_uc002sks.1_Silent_p.I950I	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1059						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAAAGATGAAATCCAGAAGC	0.468000														100			28		0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611495	37611495	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:37611495G>A	uc003xke.4	+	11	997	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	294	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCAACAGCAAGATTTACTTTG	0.428000														68			30		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25261734	25261734	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:25261734C>T	uc002wup.3	+	10	1498	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	463					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACTCGGAGATCGTGAAACAGT	0.607000														156			23		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348335	26348335	+	Silent	SNP	C	T	T	rs138691912	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:26348335C>T	uc003abz.1	+	37	6166	c.5916C>T	c.(5914-5916)atC>atT	p.I1972I	MYO18B_uc003aca.1_Silent_p.I1853I|MYO18B_uc010guy.1_Silent_p.I1854I|MYO18B_uc010guz.1_Silent_p.I1852I|MYO18B_uc011aka.1_Silent_p.I1126I|MYO18B_uc011akb.1_Silent_p.I1485I|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1972	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCGGTCATCTGTGACCTAG	0.517000														26			7		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945447	4945447	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4945447G>A	uc010qyr.2	-	0	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCCCCAAGATAACTGTCA	0.502000														52			23		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129833587	129833587	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:129833587G>A	uc021zfb.1	+	62	9042	c.8937G>A	c.(8935-8937)ggG>ggA	p.G2979G	LAMA2_uc003qbn.3_Silent_p.G2977G|LAMA2_uc003qbo.3_Silent_p.G2973G|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2979	Laminin G-like 5.				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	p.L2978L(1)		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)		TTCTTCTGGGGATCAGTAGTC	0.363000														135			22		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102335094	102335094	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:102335094C>T	uc004eju.3	-	10	1049	c.978G>A	c.(976-978)aaG>aaA	p.K326K	NXF3_uc010noi.1_Silent_p.K176K	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	326						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGGTAACCTCTTGTGGGCTT	0.547000														243			132		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56191271	56191271	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:56191271G>A	uc002lhj.4	-	6	5739	c.5525C>T	c.(5524-5526)tCc>tTc	p.S1842F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1842	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GATGGCAAAGGAAACAGTGGA	0.433000														48			8		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604452	64604452	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:64604452C>T	uc001obs.4	-	9	1245	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	415					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTTCCGCTCCAGGGCAGCCC	0.622000														51			7		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617353	182617353	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:182617353C>T	uc010pnw.1	-	5	537	c.279G>A	c.(277-279)aaG>aaA	p.K93K	RGS8_uc001gpn.1_Silent_p.K93K|RGS8_uc001gpm.1_Silent_p.K111K	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	93	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						ACCTGGTCTTCTTGAACTCCT	0.552000														178			247		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196514	207196514	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:207196514G>A	uc001hfd.2	-	3	854	c.595C>T	c.(595-597)Cct>Tct	p.P199S	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	199						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TCTGGCGGAGGGATGAGCACC	0.662000														93			88		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30806793	30806793	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:30806793G>A	uc010xbr.1	-	14	1762	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	C18orf34_uc010dme.1_Silent_p.L54L|C18orf34_uc002kxn.2_Silent_p.L540L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.L540L|C18orf34_uc002kxp.3_Silent_p.L540L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	540										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CACCTTGAGTGAGTTTTTTCA	0.284000														52			14		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231587	230231587	+	Splice_Site	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:230231587A>G	uc002vpv.3	-	12	2249	c.2102_splice	c.e12+1	p.R701_splice		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	701					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCCACAGCCAACCTGGCATGC	0.527000														90			26		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10182060	10182060	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:10182060C>T	uc004csy.4	+	10	2346	c.1916C>T	c.(1915-1917)tCc>tTc	p.S639F	CLCN4_uc011mid.2_Missense_Mutation_p.S545F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	639	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGGTGGTCTCCAGAGACTCC	0.562000														39			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637909	179637909	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179637909C>T	uc021vsy.1	-	32	8007	c.7782G>A	c.(7780-7782)atG>atA	p.M2594I	TTN_uc021vsz.1_Missense_Mutation_p.M2548I|TTN_uc021vta.1_Missense_Mutation_p.M2548I|TTN_uc021vtb.1_Missense_Mutation_p.M2548I|TTN_uc002unb.2_Missense_Mutation_p.M2594I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2594							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCATCATATTTAGAA	0.313000														49			14		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506480	11506480	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:11506480C>T	uc001qzw.1	-	3	591	c.554G>A	c.(553-555)gGa>gAa	p.G185E	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.	247	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)			TTTCTTGCCTCCTTGTGGGGG	0.597000														188			51		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762074	43762074	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:43762074G>A	uc001zrs.3	-	10	1504	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	TP53BP1_uc010udp.2_Silent_p.S452S|TP53BP1_uc001zrq.4_Silent_p.S457S|TP53BP1_uc001zrr.4_Silent_p.S457S|TP53BP1_uc010udq.1_Silent_p.S457S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	452					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGAGGCTGGGATGGGATAG	0.428000								Other conserved DNA damage response genes						111			38		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145093099	145093099	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:145093099C>T	uc003qkt.3	+	57	8644	c.8552C>T	c.(8551-8553)tCc>tTc	p.S2851F		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2851	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTTTCAATCCCTTGGTAAG	0.269000														99			12		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684069	3684069	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:3684069G>A	uc002wja.3	-	4	1003	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P335S|SIGLEC1_uc002wjc.3_Missense_Mutation_p.P246S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	335	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCCAGGATGGGACCTGCTGGG	0.607000														85			16		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55182893	55182893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:55182893G>A	uc010wnl.2	+	2	350	c.68G>A	c.(67-69)tGg>tAg	p.W23*	AKAP1_uc002iux.3_Nonsense_Mutation_p.W23*|AKAP1_uc021uak.1_Nonsense_Mutation_p.W23*|AKAP1_uc010dcm.3_Nonsense_Mutation_p.W23*|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	23					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTCGGCTGGTGGTGGTTTTTC	0.567000														59			10		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161292770	161292770	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:161292770C>T	uc010jiw.3	+	4	699	c.231C>T	c.(229-231)ttC>ttT	p.F77F	GABRA1_uc010jix.3_Silent_p.F77F|GABRA1_uc010jiy.3_Silent_p.F77F|GABRA1_uc003lyx.4_Silent_p.F77F|GABRA1_uc010jiz.3_Silent_p.F77F|GABRA1_uc010jja.3_Silent_p.F77F|GABRA1_uc010jjb.3_Silent_p.F77F	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	77					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCACCAGTTTCGGACCCGTTT	0.378000														132			34		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122218799	122218799	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:122218799C>T	uc001ubb.3	-	3	505	c.450G>A	c.(448-450)ctG>ctA	p.L150L	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.4_Silent_p.L150L	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	150					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TGATGGGCTCCAGCTGGGCGG	0.662000														34			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744698	140744698	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140744698G>A	uc003lju.2	+	0	801	c.801G>A	c.(799-801)acG>acA	p.T267T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.T267T	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	267	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGCCACGGATCCAGATG	0.498000														80			17		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516172	51516172	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:51516172G>A	uc010ric.2	+	0	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCATCAGGAAATTGTGTA	0.348000														45			12		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130502	52130502	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:52130502C>T	uc002pxe.3	-	7	1422	c.1283_splice	c.e7-1	p.G428_splice		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	428					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTCGATCTCCCTGCAGAAAAG	0.562000														47			10		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014329	168014329	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:168014329T>C	uc001gew.3	+	13	2244	c.1891T>C	c.(1891-1893)Ttc>Ctc	p.F631L	DCAF6_uc001gex.3_Missense_Mutation_p.F708L|DCAF6_uc010plk.2_Missense_Mutation_p.F677L|DCAF6_uc001gev.3_Missense_Mutation_p.F651L|DCAF6_uc001gey.3_Missense_Mutation_p.F504L|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	631					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGAGCCTCAGTTCCAAACAGA	0.468000														37			62		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442215	145442215	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:145442215C>T	uc003lnt.3	+	9	2379	c.2141C>T	c.(2140-2142)aCc>aTc	p.T714I	SH3RF2_uc011dbl.1_Missense_Mutation_p.T714I|SH3RF2_uc003lnu.3_Missense_Mutation_p.T205I|SH3RF2_uc011dbn.1_Missense_Mutation_p.T205I|SH3RF2_uc011dbo.2_Missense_Mutation_p.T171I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	714							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGCCACAACCCTGGTGTCC	0.552000														57			9		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951558	119951558	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:119951558C>T	uc010inb.3	+	3	1824	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	SYNPO2_uc010ina.3_Missense_Mutation_p.S543L|SYNPO2_uc003icm.4_Missense_Mutation_p.S543L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S471L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	543						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.S543L(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGAAGAGTCGGTAAGAACG	0.517000														72			45		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891347	44891347	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44891347C>T	uc010xxa.2	-	3	1124	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.G354R	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GACCTAAATCCAAACCCTTTC	0.488000														84			17		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997061	31997061	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:31997061G>A	uc011dpd.2	+	27	3673	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N	C4B_uc011dpe.2_Missense_Mutation_p.D1208N	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1208					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGCCCCTGCGGACCTGCGGGG	0.647000														71			11		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346526	89346526	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:89346526G>A	uc002fmx.1	-	8	6885	c.6424C>T	c.(6424-6426)Ccc>Tcc	p.P2142S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2142S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2142S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2099S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2142	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCTGCAGGGGAAGCTCCGGC	0.662000														44			10		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365769	36365769	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:36365769C>T	uc002oce.3	+	9	1480	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	APLP1_uc010xsz.2_Nonsense_Mutation_p.Q409*|APLP1_uc002ocf.3_Nonsense_Mutation_p.Q448*|APLP1_uc002ocg.3_Nonsense_Mutation_p.Q351*|APLP1_uc010xta.2_Nonsense_Mutation_p.Q442*	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	448	Collagen-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATGCGCTTCCAGGTGCTCAC	0.612000														22			15		0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915730	23915730	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:23915730G>A	uc002zxd.3	-	2	483	c.365C>T	c.(364-366)tCc>tTc	p.S122F	IGLL1_uc002zxe.3_Silent_p.V83V	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	122	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CTCCTCAGAGGACGGCGGGAA	0.592000														64			14		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1192649	1192649	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1192649G>A	uc001adp.3	-	3	403	c.214C>T	c.(214-216)Cct>Tct	p.P72S	UBE2J2_uc001adm.3_Missense_Mutation_p.P37S|UBE2J2_uc001ado.3_Missense_Mutation_p.P88S|UBE2J2_uc001adq.3_Missense_Mutation_p.P20S|UBE2J2_uc001adr.3_Missense_Mutation_p.P20S	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	72					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGTTTGAAAGGAAATTCTCTG	0.507000														36			20		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179761	103179761	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:103179761C>T	uc022ajr.1	-	44	7104	c.6944G>A	c.(6943-6945)gGa>gAa	p.G2315E	RELN_uc022ajq.1_Missense_Mutation_p.G2315E|RELN_uc010liz.3_Missense_Mutation_p.G2315E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2315					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAATATTTCCTCCAATAAG	0.373000														44			20		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45188718	45188718	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:45188718C>T	uc002xsf.2	-	12	1792	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	SLC13A3_uc010ghn.2_Silent_p.S553S|SLC13A3_uc010zxx.2_Silent_p.S486S|SLC13A3_uc010zxw.2_Silent_p.S534S|SLC13A3_uc002xsg.2_Silent_p.S537S|SLC13A3_uc010gho.2_Silent_p.S502S|SLC13A3_uc002xse.2_Silent_p.S75S|SLC13A3_uc010ghm.2_Silent_p.S171S|SLC13A3_uc010zxv.2_Silent_p.S169S	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	584						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGACATTGACCGAGTACATAT	0.562000														139			24		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174649	207174649	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:207174649G>A	uc002vbp.2	+	4	5647	c.5397G>A	c.(5395-5397)agG>agA	p.R1799R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1799							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						ATTCTGTAAGGAACCTGAAAA	0.408000														47			18		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971080	28971080	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:28971080C>T	uc002kwr.2	+	6	859	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	DSG4_uc002kwq.2_Missense_Mutation_p.R242W	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	242	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R242L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCTCAGATCGGGATGGAGC	0.408000														70			7		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22217771	22217771	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22217771T>C	uc010aiq.1	+	1	201	c.122T>C	c.(121-123)aTa>aCa	p.I41T	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.I37T					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		AGCTCCGTTATAAACTGCACT	0.448000														48			21		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35604908	35604908	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:35604908C>T	uc011dte.1	-	2	336	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	FKBP5_uc003okx.2_Missense_Mutation_p.E45K|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.E45K|FKBP5_uc003okz.2_Missense_Mutation_p.E45K	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	45	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ATCGGCGTTTCCTCACCATTC	0.343000														45			25		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604090	95604090	+	Missense_Mutation	SNP	G	A	A	rs149396482		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:95604090G>A	uc001tdp.4	-	1	1194	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	324					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.R324C(2)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CGTAACAGACGAGCAGTTCGT	0.413000														154			46		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1480265	1480265	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:1480265C>T	uc003skj.4	-	7	1914	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	MICALL2_uc003ski.4_Silent_p.A76A	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	589						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCTTCAGATTCGCTCTCCATC	0.622000														70			15		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814487	42814487	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:42814487C>T	uc002oti.3	+	2	1044	c.666C>T	c.(664-666)gtC>gtT	p.V222V	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Silent_p.V222V|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	222										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CTGATCAAGTCCCAGAGCAGG	0.562000														104			22		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291907	61291907	+	Silent	SNP	G	A	A	rs144339707		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:61291907G>A	uc001nrv.3	-	5	772	c.720C>T	c.(718-720)atC>atT	p.I240I	SYT7_uc009ynr.3_Silent_p.I315I	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	240						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTTAAGGGGGATGGACACCT	0.567000														41			11		0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70329108	70329108	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:70329108G>A	uc004dyw.2	-	4	819	c.727C>T	c.(727-729)Cca>Tca	p.P243S	CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Missense_Mutation_p.P4L|IL2RG_uc004dyx.2_Missense_Mutation_p.P53S	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	243					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CAGTGGATTGGGTGGCTCCAT	0.522000									Severe Combined Immunodeficiency, X-linked					93			15		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60986000	60986000	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:60986000G>A	uc002ycw.2	-	13	2126	c.1929C>T	c.(1927-1929)ccC>ccT	p.P643P		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	643										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TTGGGCTCCCGGGCCCCTCAG	0.662000														103			46		0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145912223	145912223	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:145912223C>T	uc010huy.3	-	8	1294	c.965G>A	c.(964-966)aGa>aAa	p.R322K	PLSCR4_uc010huz.3_Missense_Mutation_p.R322K|PLSCR4_uc003evt.4_Missense_Mutation_p.R322K|PLSCR4_uc010hva.3_Missense_Mutation_p.R232K|PLSCR4_uc003evu.4_Missense_Mutation_p.R217K	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	322					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGGTGGAGATCTTTCAAAATA	0.328000														62			37		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455971	138455971	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:138455971C>T	uc003vuf.3	-	1	260	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ATP6V0A4_uc003vug.3_Missense_Mutation_p.E8K|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.E8K	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	8					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATCTCCTCGCTTCGAAAC	0.443000														369			34		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76137122	76137122	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:76137122C>T	uc002jup.2	+	15	2492	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	TMC8_uc002juq.2_Missense_Mutation_p.P481S	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	704						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTGCGTTCCCCTTGCCCTGG	0.756000														19			5		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840434	47840434	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:47840434C>T	uc003tny.2	-	53	8040	c.8006G>A	c.(8005-8007)cGa>cAa	p.R2669Q	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2669					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGCAGAAATCGGTGCAGGTG	0.552000														83			20		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092709	40092709	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:40092709G>A	uc001cdp.3	-	4	508	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	HEYL_uc010oiw.2_Missense_Mutation_p.L125F	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	153	Orange.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TAGCTGTTGAGGTGGGAGAGA	0.632000														47			47		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781188	126781188	+	Missense_Mutation	SNP	G	A	A	rs138372925		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:126781188G>A	uc003kuh.4	+	20	2893	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MEGF10_uc003kui.4_Missense_Mutation_p.R844Q	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438000														95			16		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096619	107096619	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:107096619G>A	uc003dwi.1	+	0	432	c.185G>A	c.(184-186)gGa>gAa	p.G62E		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	62								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTTATGACGGAAAAATGAAT	0.368000														151			38		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993787	144993787	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:144993787G>A	uc003zaf.1	-	31	10783	c.10613C>T	c.(10612-10614)cCc>cTc	p.P3538L	PLEC_uc003zab.1_Missense_Mutation_p.P3401L|PLEC_uc003zac.1_Missense_Mutation_p.P3405L|PLEC_uc003zad.2_Missense_Mutation_p.P3401L|PLEC_uc003zae.1_Missense_Mutation_p.P3369L|PLEC_uc003zag.1_Missense_Mutation_p.P3379L|PLEC_uc003zah.2_Missense_Mutation_p.P3387L|PLEC_uc003zaj.2_Missense_Mutation_p.P3428L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3538	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTTCCGCACGGGGTCCACCAG	0.692000														24			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429924	179429924	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179429924G>A	uc021vsy.1	-	274	73456	c.73231C>T	c.(73231-73233)Cca>Tca	p.P24411S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P18106S|TTN_uc021vta.1_Missense_Mutation_p.P18039S|TTN_uc021vtb.1_Missense_Mutation_p.P17914S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25338	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCGAACTGGGCCAACTGGA	0.438000														99			45		0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217784272	217784272	+	Nonsense_Mutation	SNP	A	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:217784272A>C	uc001hlf.1	-	3	1073	c.977T>G	c.(976-978)tTa>tGa	p.L326*	GPATCH2_uc001hlg.4_Nonsense_Mutation_p.L326*	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	326						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGAACCAGTTAAGATACTTTC	0.453000														41			44		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783821	10783821	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:10783821C>G	uc001qys.2	-	4	795	c.274G>C	c.(274-276)Gtg>Ctg	p.V92L		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	92						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AAGTTTTCCACGGATGTCTCC	0.547000										HNSCC(73;0.22)				120			18		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968370	28968370	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:28968370G>A	uc002kwr.2	+	3	392	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	DSG4_uc002kwq.2_Missense_Mutation_p.R86Q	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	86	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATAACATACCGGATTTCTGGA	0.403000														57			9		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480915	57480915	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:57480915G>A	uc009vzx.1	-	11	1405	c.1085C>T	c.(1084-1086)cCg>cTg	p.P362L	DAB1_uc001cyt.1_Missense_Mutation_p.P360L|DAB1_uc001cyq.1_Missense_Mutation_p.P360L|DAB1_uc001cyr.1_Missense_Mutation_p.P276L|DAB1_uc009vzw.1_Missense_Mutation_p.P344L|DAB1_uc001cys.1_Missense_Mutation_p.P362L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	395					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCGGCTGGCGGAAACTGCCC	0.652000														73			58		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52551645	52551645	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:52551645C>T	uc002lfr.3	+	3	564	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	107					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		AACAGAGCTTCTTAAATGTCA	0.468000														96			13		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459659	142459659	+	Missense_Mutation	SNP	G	A	A	rs111033564		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:142459659G>A	uc003wak.2	+	2	252	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E19K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	79	Peptidase S1.		E -> K (in PCTT; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect; dbSNP:rs28934902).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCACAACATCGAAGTCCTGGA	0.547000														261			159		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123265710	123265710	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:123265710G>A	uc001udc.3	+	3	392	c.230_splice	c.e3-1	p.G77_splice	CCDC62_uc010tah.2_Splice_Site|CCDC62_uc001ude.3_Splice_Site	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	77						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTTCCCTCAGGTGAACTACA	0.353000														77			11		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567248	45567248	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:45567248G>A	uc010dnv.3	-	2	733	c.297C>T	c.(295-297)atC>atT	p.I99I	ZBTB7C_uc002ldb.3_Silent_p.I77I|ZBTB7C_uc010dnu.3_Silent_p.I86I|ZBTB7C_uc010dnw.3_Silent_p.I77I|ZBTB7C_uc010dnx.1_Silent_p.I77I|ZBTB7C_uc010dny.1_Silent_p.I77I|ZBTB7C_uc010dnz.1_Silent_p.I99I|ZBTB7C_uc010doi.1_Silent_p.I77I|ZBTB7C_uc010doj.1_Silent_p.I86I|ZBTB7C_uc010dok.1_Silent_p.I126I|ZBTB7C_uc010dol.1_Silent_p.I86I|ZBTB7C_uc010doa.1_Silent_p.I99I|ZBTB7C_uc010dob.1_Silent_p.I77I|ZBTB7C_uc010doc.1_Silent_p.I86I|ZBTB7C_uc010dod.1_Silent_p.I99I|ZBTB7C_uc010doe.1_Silent_p.I77I|ZBTB7C_uc010dof.1_Silent_p.I77I|ZBTB7C_uc010dog.1_Silent_p.I77I|ZBTB7C_uc010doh.1_Silent_p.I86I|ZBTB7C_uc010dom.1_Silent_p.I86I|ZBTB7C_uc010don.1_Silent_p.I85I|ZBTB7C_uc010dop.1_Silent_p.I77I|ZBTB7C_uc010doq.1_Silent_p.I86I|ZBTB7C_uc010dor.1_Silent_p.I99I|ZBTB7C_uc010dos.1_Silent_p.I77I|ZBTB7C_uc010dot.1_Silent_p.I77I|ZBTB7C_uc010doo.1_Silent_p.I77I|ZBTB7C_uc010dou.1_Silent_p.I86I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	77	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGACAAAGTCGATCTCATAGA	0.582000														35			9		0	0	1	0	0
FXYD6-FXYD2	100533181	broad.mit.edu	37	11	117693355	117693355	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:117693355C>T	uc001prl.3	-	1	169	c.103G>A	c.(103-105)Gga>Aga	p.G35R	FXYD6-FXYD2_uc021qqy.1_Intron|FXYD6-FXYD2_uc021qqz.1_Intron|FXYD6-FXYD2_uc001prj.2_Intron|FXYD6-FXYD2_uc001prk.1_Intron					Homo sapiens FXYD domain containing ion transport regulator 2 (FXYD2), transcript variant a, mRNA.																		GGAAGGGGTCCTGAGGGCTCA	0.672000														3			8		0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84164717	84164717	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:84164717G>A	uc002fhk.2	-	2	394	c.210C>T	c.(208-210)gcC>gcT	p.A70A	HSDL1_uc010vnv.1_Silent_p.A70A	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	70	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CGCTGACAACGGCCCATCTTC	0.433000														136			51		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39377300	39377300	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:39377300C>T	uc003jlx.3	-	11	2120	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	DAB2_uc003jlw.3_Missense_Mutation_p.G509E	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	530					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.P529P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATCATGGCTCCCGGAGCCAT	0.517000														93			18		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734858	15734858	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:15734858G>A	uc002nbi.3	+	9	1130	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CYP4F8_uc010xoj.2_Missense_Mutation_p.E169K	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	357					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTGCCGGCAGGAGGTGCAAGA	0.582000														61			20		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839962	25839962	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:25839962C>T	uc001isj.3	+	5	1522	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	488						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R488G(2)|p.R488H(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGATGGGCTCGTCTTCTCGG	0.393000														92			43		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51486939	51486939	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:51486939C>T	uc004dpl.3	+	0	459	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	73					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GCCGTCCTTCCTGCGGGGCCC	0.667000														32			5		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357204	149357204	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:149357204G>A	uc003ilj.4	-	1	1172	c.809C>T	c.(808-810)tCc>tTc	p.S270F	NR3C2_uc003ilk.4_Missense_Mutation_p.S270F|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	270	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGAAATTGAGGATTTCATGCT	0.488000														107			18		0	0	1	0	0
BC042855	0	broad.mit.edu	37	12	64790381	64790381	+	RNA	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:64790381G>A	uc001srx.3	+	4		c.902G>A								Homo sapiens mRNA; cDNA DKFZp434A0326 (from clone DKFZp434A0326).																		TACTGCTAAAGGAAACTGGCA	0.463000														11			3		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134107411	134107411	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:134107411C>T	uc003ytw.3	+	41	7404	c.7363C>T	c.(7363-7365)Cgc>Tgc	p.R2455C	TG_uc010mdw.3_Missense_Mutation_p.R1214C|TG_uc011ljb.2_Missense_Mutation_p.R824C|TG_uc011ljc.2_Missense_Mutation_p.R588C|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2455			R -> H (in dbSNP:rs2272707).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTCCTGCCTCCGCCAGAAGCC	0.522000														166			25		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183380	13183380	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:13183380C>T	uc010obg.2	-	1	736	c.493G>A	c.(493-495)Gga>Aga	p.G165R		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	165						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CCCCGCTTTCCACTCTTAGAA	0.498000														809			36		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66131214	66131214	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:66131214C>T	uc002jgq.3	+	5		c.10337C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		AGCTCCTCTTCGGGGATCTTG	0.577000														17			3		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762408	43762408	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:43762408G>A	uc002owd.4	-	4	1288	c.1189C>T	c.(1189-1191)Cat>Tat	p.H397Y	PSG9_uc002owe.4_Missense_Mutation_p.H304Y|PSG9_uc010xwm.2_Missense_Mutation_p.H304Y|PSG9_uc002owf.4_Missense_Mutation_p.H211Y|PSG9_uc002owg.2_Missense_Mutation_p.H304Y	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	397	Ig-like C2-type 3.		H -> R (in dbSNP:rs2072285).		female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAGTTATGAACAGAGCAA	0.433000														370			52		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5594150	5594150	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:5594150G>A	uc002mcd.3	-	14	2171	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	653	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCTCATGGAAGGCCTCGAGGC	0.711000														34			4		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692215	31692215	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:31692215G>A	uc011kae.2	+	13	2997	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q	CCDC129_uc011kad.1_Silent_p.Q979Q|CCDC129_uc003tcj.1_Silent_p.Q969Q|CCDC129_uc003tci.1_Silent_p.Q820Q|CCDC129_uc003tck.1_Silent_p.Q877Q	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	969										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAATGGGCAGACTTCATGTT	0.502000														31			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473519	179473519	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179473519C>T	uc021vsy.1	-	222	44740	c.44515G>A	c.(44515-44517)Gaa>Aaa	p.E14839K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8534K|TTN_uc021vta.1_Missense_Mutation_p.E8467K|TTN_uc021vtb.1_Missense_Mutation_p.E8342K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15766	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTTTCCAAAGTGTAG	0.363000														63			28		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701244	81701244	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:81701244C>T	uc001kbh.3	-	5	620	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	193	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCTGGACTTCCCTGGGGACCC	0.507000														60			25		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102201934	102201934	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:102201934C>T	uc002bxm.3	-	15	2108	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	TARSL2_uc002bxl.3_Missense_Mutation_p.E230K|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	685					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATAGTTTTCTGAAAGAATG	0.294000														66			11		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332146	107332146	+	Missense_Mutation	SNP	G	A	A	rs150858980		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:107332146G>A	uc011lvo.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233E(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCACTGAAGGAAAACATAAG	0.418000														84			15		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39552705	39552705	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39552705C>T	uc002hwn.3	-	2	608	c.555G>A	c.(553-555)gaG>gaA	p.E185E	KRT31_uc010cxn.3_Silent_p.E185E	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	185	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGAGCAGCTCCTCCTTCAGGG	0.562000														47			20		0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114483038	114483038	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:114483038G>A	uc002tku.1	-	11	1581	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC35F5_uc002tkt.3_Non-coding_Transcript	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	389					transport	integral to membrane		p.F389F(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TGGGAAACTCGAAGTCCTCAA	0.358000														58			29		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642777	91642777	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:91642777A>T	uc004efk.2	+	4	4033	c.3188A>T	c.(3187-3189)gAa>gTa	p.E1063V	PCDH11X_uc004efl.2_Missense_Mutation_p.E1053V|PCDH11X_uc010nmv.2_Intron|PCDH11X_uc004efm.2_Missense_Mutation_p.E1063V|PCDH11X_uc004efn.2_Missense_Mutation_p.E1053V|PCDH11X_uc004efo.2_Missense_Mutation_p.E1026V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1063					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGCTCTCAGGAAAGCAGCAGT	0.493000														136			18		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757303	757303	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:757303G>A	uc002lpo.3	+	1	440	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	119										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGACAAGGAGATGAAGA	0.667000														34			6		0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38698843	38698843	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:38698843G>C	uc003gth.4	+	5	1329	c.997G>C	c.(997-999)Gac>Cac	p.D333H		NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	333					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CTCCCGTTCTGACCATCTTGC	0.527000														137			35		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79978253	79978253	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:79978253G>A	uc004edt.3	-	16	1947	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	BRWD3_uc004edp.3_Missense_Mutation_p.R391C|BRWD3_uc004edq.3_Missense_Mutation_p.R158C|BRWD3_uc010nmj.2_Missense_Mutation_p.R158C|BRWD3_uc004edr.3_Missense_Mutation_p.R232C|BRWD3_uc004eds.3_Missense_Mutation_p.R158C|BRWD3_uc004edo.3_Missense_Mutation_p.R158C|BRWD3_uc004edu.3_Missense_Mutation_p.R232C|BRWD3_uc004edv.3_Missense_Mutation_p.R158C|BRWD3_uc004edw.3_Missense_Mutation_p.R158C|BRWD3_uc004edx.3_Missense_Mutation_p.R158C|BRWD3_uc004edy.3_Missense_Mutation_p.R158C|BRWD3_uc004edz.3_Missense_Mutation_p.R232C|BRWD3_uc004eea.3_Missense_Mutation_p.R232C|BRWD3_uc004eeb.3_Missense_Mutation_p.R158C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	562								p.Y561S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATAAGAGGACGATAATCCGTG	0.378000														120			24		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970087	110970087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:110970087C>T	uc011msy.2	+	15	1881	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	ALG13_uc011msx.2_Nonsense_Mutation_p.R490*|ALG13_uc011msz.2_Nonsense_Mutation_p.R516*|ALG13_uc011mta.2_Nonsense_Mutation_p.R490*|ALG13_uc011mtb.2_Nonsense_Mutation_p.R490*	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	594					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						CAAGAAAATTCGAGGGAAAGA	0.433000														226			43		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119961	103119961	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:103119961G>A	uc002tbz.4	+	2	1232	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	259					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGAAGACATAGAAACTGTCGA	0.353000														50			8		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537489	1537489	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:1537489C>T	uc010uvf.2	-	1	609	c.609G>A	c.(607-609)agG>agA	p.R203R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	208						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTGCCTGTCCCTCTGAAGCT	0.721000														24			5		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746064	47746065	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:47746064_47746065GG>AA	uc001crd.1	-	11	2220_2221	c.2065_2066CC>TT	c.(2065-2067)cct>TTt	p.P689F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.P642F|STIL_uc010omo.1_Missense_Mutation_p.P689F|STIL_uc001crc.1_Missense_Mutation_p.P689F|STIL_uc001cre.1_Missense_Mutation_p.P689F|STIL_uc001crf.1_Missense_Mutation_p.P302F|STIL_uc001crg.1_Missense_Mutation_p.P642F	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	689	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CATATGTGAAGGCGGTCTTGCC	0.480000														95			70		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120385305	120385305	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:120385305G>A	uc002tmb.3	+	16	1847	c.735G>A	c.(733-735)aaG>aaA	p.K245K	PCDP1_uc010yyq.2_Silent_p.K375K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	531						cilium	calmodulin binding					Colorectal(110;0.196)					TGTCGCCCAAGGAGGTGCTGC	0.552000														166			65		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378521	114378521	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:114378521G>A	uc003pwg.4	-	1	973	c.941C>T	c.(940-942)cCa>cTa	p.P314L	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.P314L	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	314					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTCCACCTCTGGATGAATGCG	0.413000														117			26		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147600	118147600	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:118147600G>A	uc003yoh.3	+	0	264	c.34G>A	c.(34-36)Gat>Aat	p.D12N	SLC30A8_uc010mcz.3_Intron|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	12					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTTGTGAATGATAAAGCTGC	0.418000														145			72		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799078	5799078	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5799078G>A	uc010qzn.2	-	0	820	c.787C>T	c.(787-789)Cca>Tca	p.P263S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGAATGCTGGAACATAGGTG	0.488000														86			14		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99483948	99483948	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:99483948C>T	uc001vnt.2	-	39	4396	c.4341G>A	c.(4339-4341)acG>acA	p.T1447T	DOCK9_uc001vnw.2_Silent_p.T1446T|DOCK9_uc021rlw.1_Silent_p.T1446T|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.T1447T|DOCK9_uc001vnq.2_Silent_p.T19T|DOCK9_uc001vnr.2_Silent_p.T90T|DOCK9_uc010tin.1_Silent_p.T90T|DOCK9_uc001vns.2_Silent_p.T19T|DOCK9_uc010tio.1_Silent_p.T139T|DOCK9_uc010tip.1_Silent_p.T157T|DOCK9_uc001vnu.1_Silent_p.T19T|DOCK9_uc010tiq.1_Silent_p.T425T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1447					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTTAAAGCCGTTTCAGACT	0.393000														37			16		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157839901	157839901	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:157839901G>A	uc003fbt.3	+	1	119	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RSRC1_uc011bou.1_Missense_Mutation_p.R3H|RSRC1_uc003fbu.1_Missense_Mutation_p.R3H|RSRC1_uc003fbv.3_Missense_Mutation_p.R3H	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	3	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.R3C(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GAAATGGGACGTCGGTCATCA	0.338000														50			4		0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691928	31691928	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:31691928G>A	uc002ynw.3	-	0	680	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	142						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGGGGCGATAGGCATTGGGCA	0.552000														252			84		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241208	3241208	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3241208C>T	uc004crg.4	-	4	2675	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	840						extracellular region		p.E839D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGAGGATTCTTCAGCACTG	0.488000														102			44		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970470	160970470	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160970470C>T	uc009wtt.3	-	3	609	c.339G>A	c.(337-339)gaG>gaA	p.E113E	F11R_uc010pjv.2_Intron|F11R_uc010pjw.2_Silent_p.E117E|F11R_uc001fxf.4_Silent_p.E113E	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	113	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TGCCGCCTTCCTCAGAGACCA	0.532000														70			52		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137255925	137255925	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:137255925G>A	uc003vtt.3	-	18	1944	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	DGKI_uc003vtu.3_Missense_Mutation_p.S348F	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	648					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTCACCAAAGAGGCCATGGT	0.378000														71			7		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713826	19713826	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:19713826C>T	uc004czm.3	-	4	740	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	SH3KBP1_uc004czl.3_Missense_Mutation_p.G105R	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	142	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	p.N141N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCAGTCTTCCCGTTGAGAACA	0.473000														125			27		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954506	70954506	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:70954506C>T	uc001swb.4	-	14	3753	c.3723G>A	c.(3721-3723)tgG>tgA	p.W1241*	PTPRB_uc010sto.2_Nonsense_Mutation_p.W1151*|PTPRB_uc010stp.2_Nonsense_Mutation_p.W1151*|PTPRB_uc001swc.4_Nonsense_Mutation_p.W1459*|PTPRB_uc001swa.4_Nonsense_Mutation_p.W1371*|PTPRB_uc001swd.4_Nonsense_Mutation_p.W1458*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.W1338*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1241	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGTTACCACCCACAGCACGT	0.517000														47			27		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071218	70071218	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:70071218G>A	uc010kak.3	+	27	4329	c.4053G>A	c.(4051-4053)atG>atA	p.M1351I	BAI3_uc003pev.4_Missense_Mutation_p.M1351I|BAI3_uc011dxx.2_Missense_Mutation_p.M557I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1351					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTCAATATGAATCCCCCTG	0.428000														138			29		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232324	20232324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:20232324C>T	uc002wru.3	+	19	2359	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	C20orf26_uc010zse.2_Nonsense_Mutation_p.R729*|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Nonsense_Mutation_p.R105*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	749										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGGCATAGACCGAGCAGCCAA	0.542000														182			33		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101969868	101969868	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:101969868C>T	uc022cbh.1	+	0	71	c.71C>T	c.(70-72)gCt>gTt	p.A24V	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.A24V|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.A24V|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.A24V|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.A24V|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.A24V|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.A24V|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.A24V	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	24						cytoplasm	protein binding										GAGGTTATCGCTGGGCCTGAG	0.527000														167			25		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35032909	35032909	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:35032909G>A	uc003jjf.3	-	6	940	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	AGXT2_uc011com.2_Missense_Mutation_p.R233C|Mir_548_uc021xxj.1_5'Flank	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	233					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CAAGGGCCACGAAAAACATCT	0.522000														11			7		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331464	83331464	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:83331464G>A	uc010uoi.2	-	22	2992	c.2815C>T	c.(2815-2817)Caa>Taa	p.Q939*	AP3B2_uc010uoh.2_Nonsense_Mutation_p.Q920*|AP3B2_uc010uoj.2_Nonsense_Mutation_p.Q888*|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Nonsense_Mutation_p.Q556*	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	920					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAATTCTTGGATGCTGATG	0.562000														19			5		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336947	72336947	+	RNA	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:72336947G>A	uc010lal.1	-	0		c.2709C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GAGCCAGGAAGAAATGAATGC	0.502000														361			95		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44586195	44586195	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44586195C>T	uc002oyg.1	+	3	388	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGATACTTTTCACTTCCAAAG	0.403000														91			21		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489461	20489461	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:20489461C>T	uc001ytf.1	+	2		c.449C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AACACAACTTCATTCCTAAAG	0.428000														223			11		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109871385	109871385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:109871385G>A	uc003ptn.2	-	24	2949	c.2872C>T	c.(2872-2874)Cga>Tga	p.R958*	AKD1_uc011eat.1_Nonsense_Mutation_p.R37*	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	958					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ATCTTTTCTCGATACTTGGCT	0.428000														125			29		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080339	29080339	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:29080339C>T	uc011dll.2	+	0	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224I(2)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATGGTGCCATCGTCCGAGCTA	0.458000														124			24		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873482	24873482	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:24873482G>A	uc001isb.2	-	25	6223	c.5736C>T	c.(5734-5736)tcC>tcT	p.S1912S	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1911					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGGTGGTATGGAAAGAAGGG	0.488000														116			23		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26719969	26719969	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:26719969A>G	uc001mra.2	-	6	1248	c.935T>C	c.(934-936)aTc>aCc	p.I312T	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.I312T	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	312					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGGTGCTGAGATGATGCCAGA	0.473000														76			12		0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836372	94836372	+	Silent	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:94836372G>C	uc001kil.2	+	5	1116	c.1071G>C	c.(1069-1071)ggG>ggC	p.G357G	CYP26A1_uc001kik.1_Silent_p.G288G	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	357					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AATACATCGGGTGTGTTATTA	0.393000														83			20		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6974991	6974991	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:6974991G>A	uc002knm.3	-	45	6628	c.6534C>T	c.(6532-6534)ttC>ttT	p.F2178F	LAMA1_uc010wzj.2_Silent_p.F1654F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2178	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.A2177V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCCCACAGGAAGGCCACTC	0.547000														57			6		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743415	38743415	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:38743415G>A	uc003ciq.3	-	25	4572	c.4572C>T	c.(4570-4572)gtC>gtT	p.V1524V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1524					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATCTTCATGACACATTCGC	0.458000														112			57		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884894	15884894	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:15884894C>T	uc002yju.1	-	4	362	c.280_splice	c.e4-1	p.D94_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.D162_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	94					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTTCCTCATCCTTCAGAAAA	0.413000														139			15		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28297379	28297379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:28297379G>A	uc003nlc.3	-	1	471	c.82C>T	c.(82-84)Cga>Tga	p.R28*	ZNF323_uc003nld.3_Nonsense_Mutation_p.R28*|ZNF323_uc010jra.3_Nonsense_Mutation_p.R28*|ZNF323_uc003nla.3_Nonsense_Mutation_p.R28*|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Nonsense_Mutation_p.R28*|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	28					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTGTTCCCTCGAAGGTGGGTT	0.498000														106			87		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46807518	46807518	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:46807518T>C	uc003bhw.1	-	5	4750	c.4750A>G	c.(4750-4752)Act>Gct	p.T1584A	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1584	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.G1583G(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGTCTGAGTGCCCTGGGCA	0.632000														60			16		0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956020	66956020	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:66956020G>A	uc002eqn.2	-	4	1038	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	RRAD_uc002eqo.2_Missense_Mutation_p.R296C	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	296	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GATTTGGCGCGAAAGGCCATC	0.627000														41			10		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490331	42490331	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:42490331G>A	uc002osh.3	-	4	562	c.408C>T	c.(406-408)ttC>ttT	p.F136F	ATP1A3_uc010xwf.2_Silent_p.F147F|ATP1A3_uc010xwg.2_Silent_p.F106F|ATP1A3_uc002osg.3_Silent_p.F136F|ATP1A3_uc010xwh.2_Silent_p.F149F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	136					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTAGTAGGAGAAGCAGCCAG	0.612000														78			28		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541145	2541145	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:2541145C>T	uc001ajy.2	-	4	632	c.418G>A	c.(418-420)Gac>Aac	p.D140N	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	140					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGGAGGACGTCAAAGATGCTG	0.632000														53			40		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978728	70978728	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:70978728C>T	uc003xym.3	-	4	1127	c.925G>A	c.(925-927)Ggt>Agt	p.G309S		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	309	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTCAAATGACCATCTTCAAAG	0.358000														139			18		0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907872	77907872	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:77907872A>T	uc002bct.1	-	1	429	c.377T>A	c.(376-378)cTc>cAc	p.L126H	LINGO1_uc002bcu.1_Missense_Mutation_p.L120H	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	126					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTTGCTGCGGAGACCCAGCGT	0.602000														48			7		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354081	57354081	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:57354081C>T	uc003xsz.2	-	1	635	c.554G>A	c.(553-555)aGa>aAa	p.R185K	PENK_uc003xta.3_Missense_Mutation_p.R185K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	185					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCCCCATATCTCTTGCTCAC	0.502000														228			27		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809012	7809012	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:7809012C>T	uc002mht.2	-	5	1061	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	CD209_uc010xju.1_Missense_Mutation_p.G171S|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Missense_Mutation_p.G308S|CD209_uc002mhs.2_Missense_Mutation_p.G262S|CD209_uc002mhu.2_Missense_Mutation_p.G240S|CD209_uc010dvq.2_Missense_Mutation_p.G326S|CD209_uc002mhq.2_Missense_Mutation_p.G332S|CD209_uc002mhv.2_Missense_Mutation_p.G308S|CD209_uc002mhx.2_Missense_Mutation_p.G288S|CD209_uc002mhw.2_Missense_Mutation_p.G196S|CD209_uc010dvr.2_Missense_Mutation_p.G96S	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	332	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGAGGTGAGCCGTCCACCCAT	0.537000														111			18		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132445318	132445318	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:132445318C>T	uc004exc.1	-	3	1057	c.845G>A	c.(844-846)gGg>gAg	p.G282E	GPC4_uc011mvg.1_Missense_Mutation_p.G212E	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	282					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATCGAGATCCCCTTGGTTGGC	0.448000														240			32		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640685	57640685	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:57640685G>A	uc002qny.3	+	3	998	c.642G>A	c.(640-642)gaG>gaA	p.E214E	USP29_uc021vci.1_Silent_p.E214E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	214					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGTTTAGAGGATTTAGAAA	0.368000														97			16		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312994	48312994	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:48312994C>T	uc003toq.2	+	16	3755	c.3731C>T	c.(3730-3732)tCa>tTa	p.S1244L	ABCA13_uc010kyr.2_Missense_Mutation_p.S747L|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1244					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATTAGTTTCAGTAAAAAAA	0.383000														25			5		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25024079	25024079	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:25024079G>A	uc003aan.1	+	13	1855	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	GGT1_uc003aas.1_Silent_p.T456T|GGT1_uc003aat.1_Silent_p.T456T|GGT1_uc003aau.2_Silent_p.T456T|GGT1_uc003aav.2_Silent_p.T456T|GGT1_uc003aaw.2_Silent_p.T456T|GGT1_uc003aax.2_Silent_p.T456T|GGT1_uc003aay.1_Silent_p.T112T	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	456					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTGCCCGACGATCATGGTGG	0.662000														104			17		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123768261	123768261	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:123768261A>T	uc004bkv.3	-	19	2528	c.2498T>A	c.(2497-2499)gTt>gAt	p.V833D	C5_uc010mvm.1_Missense_Mutation_p.V833D	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	833					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCCTCGTACAACAGAATATGG	0.388000														54			26		0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122278351	122278351	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:122278351C>T	uc001lev.1	+	3	615	c.263C>T	c.(262-264)tCc>tTc	p.S88F	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.S88F|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	88					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTAGCGGTGTCCTTGGCTCTT	0.358000														97			16		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640843	76640843	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:76640843G>A	uc003pik.1	-	14	2200	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	690					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CGCAGGCCAGGAACTTGCAGG	0.512000														30			4		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606710	55606710	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:55606710C>T	uc010rio.2	+	0	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCTGACACTCGCGTGCTCTG	0.448000														83			11		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510893	48510893	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:48510893G>A	uc010rhx.2	+	0	549	c.549G>A	c.(547-549)ttG>ttA	p.L183L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCCCTTATTGAAACTGGTCT	0.433000														154			68		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688115	18688115	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:18688115C>T	uc003sui.3	+	9	1317	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	HDAC9_uc003sue.3_Missense_Mutation_p.P423S|HDAC9_uc011jyd.2_Missense_Mutation_p.P423S|HDAC9_uc003suh.3_Missense_Mutation_p.P423S|HDAC9_uc003suj.3_Missense_Mutation_p.P382S|HDAC9_uc011jya.2_Missense_Mutation_p.P421S|HDAC9_uc003sua.1_Missense_Mutation_p.P401S|HDAC9_uc003sud.2_Missense_Mutation_p.P423S|HDAC9_uc011jyc.2_Missense_Mutation_p.P382S|HDAC9_uc011jyb.2_Missense_Mutation_p.P379S|HDAC9_uc003suf.2_Missense_Mutation_p.P454S|HDAC9_uc010kud.2_Missense_Mutation_p.P426S|HDAC9_uc011jye.2_Missense_Mutation_p.P395S|HDAC9_uc011jyf.2_Missense_Mutation_p.P346S|HDAC9_uc010kue.1_Missense_Mutation_p.P166S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	423					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)	TCCTCAGTCTCCCTTGGCAAC	0.448000														96			39		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883392	145883392	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:145883392A>C	uc003lob.3	+	17	2593	c.2553A>C	c.(2551-2553)ttA>ttC	p.L851F	TCERG1_uc003loc.3_Missense_Mutation_p.L830F	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	851					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACAGAATTTAGACTCAGAAA	0.373000														88			16		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16286769	16286769	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:16286769G>A	uc002den.4	-	10	1386	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.P462L	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	450	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GAGGGCGGAGGGCCCCAGGAG	0.562000														37			8		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956557	93956557	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:93956557C>T	uc003poe.3	-	14	2920	c.2679G>A	c.(2677-2679)atG>atA	p.M893I	EPHA7_uc003pof.3_Missense_Mutation_p.M888I|EPHA7_uc011eac.2_Missense_Mutation_p.M889I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	893	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTTTCGAATCATTTTGTCTA	0.413000														94			11		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:150324854C>T	uc022apv.1	-	2	1522	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	GIMAP6_uc003whn.3_Missense_Mutation_p.E278K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	278							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGATTCCTTCTGGATC	0.572000														130			19		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542483	12542483	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:12542483G>A	uc002mtu.3	-	3	701	c.503C>T	c.(502-504)cCa>cTa	p.P168L		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	168					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ACAATCATATGGTTTCTTTCC	0.428000														157			27		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424276	69424276	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:69424276C>T	uc004dxx.1	+	5	866	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	257					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CAAAAAAATCCTGGGACTAAA	0.493000														66			6		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69688666	69688666	+	Silent	SNP	G	A	A	rs147613223		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:69688666G>A	uc010lyz.3	+	10	1728	c.1437G>A	c.(1435-1437)ctG>ctA	p.L479L	C8orf34_uc003xyb.3_Silent_p.L368L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	393					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GACACTCACTGAAAAACTACA	0.403000														55			10		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095498	130095498	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130095498G>A	uc010htj.1	+	2	980	c.486G>A	c.(484-486)gtG>gtA	p.V162V	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	162	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGACGGGGTGAAAATTATCT	0.507000														34			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753443	13753443	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13753443C>T	uc003jfd.2	-	62	10813	c.10771G>A	c.(10771-10773)Gga>Aga	p.G3591R	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3591	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3591E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAATAATTCCATTTTGAATG	0.388000									Kartagener syndrome					99			21		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21249823	21249823	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:21249823C>T	uc002red.3	-	14	2209	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	694					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGCCTTTTCCTTCCAAGCC	0.418000														47			21		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921024	39921024	+	Missense_Mutation	SNP	G	A	A	rs76416187		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39921024G>A	uc002hxq.2	-	6	1376	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.R367C|JUP_uc002hxs.2_Missense_Mutation_p.R367C	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	367					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCACCAGGCGGGGGCTGTTG	0.652000														62			24		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046614	94046614	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:94046614G>A	uc001ybv.1	+	15	2105	c.2022G>A	c.(2020-2022)aaG>aaA	p.K674K	UNC79_uc001ybs.1_Silent_p.K674K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	851						integral to membrane		p.R673L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTGCCAGAAGGACGAAAAAG	0.458000														80			33		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651788	20651788	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:20651788C>T	uc002dhm.1	-	6	1179	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.E371K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	371					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.S370S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCTACCGTTTCCGACTGCCCA	0.493000														91			10		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298170	167298170	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:167298170G>A	uc002udu.2	-	13	2023	c.1893C>T	c.(1891-1893)gtC>gtT	p.V631V	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	631					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAACAACAGGACCAAGTCTT	0.393000														74			26		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749815	2749815	+	Silent	SNP	G	T	T	rs138413279	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:2749815G>T	uc003jda.3	-	1	578	c.336C>A	c.(334-336)ctC>ctA	p.L112L	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.L112L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682000														71			10		1.76689e-08	1.77991e-08	1	1	0
GPR116	221395	broad.mit.edu	37	6	46826956	46826956	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:46826956G>A	uc003oyo.3	-	16	2973	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L	GPR116_uc011dwj.1_Missense_Mutation_p.S450L|GPR116_uc011dwk.1_Missense_Mutation_p.S324L|GPR116_uc003oyp.3_Missense_Mutation_p.S753L|GPR116_uc003oyq.3_Missense_Mutation_p.S895L|GPR116_uc010jzi.1_Missense_Mutation_p.S567L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	895					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S895L(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GACAATAGACGAATCCGACTG	0.458000														140			21		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264460	155264460	+	Missense_Mutation	SNP	C	T	T	rs140575553		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:155264460C>T	uc001fkb.4	-	5	817	c.778G>A	c.(778-780)Gac>Aac	p.D260N	PKLR_uc001fka.4_Missense_Mutation_p.D229N	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	260					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCGGGCAAGTCCACCTGGGCC	0.657000														30			28		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074772	185074772	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:185074772C>T	uc003iwc.3	-	1	498	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	119					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGGTTCTGATCCATTCCACCA	0.493000														71			7		0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691348	90691348	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:90691348G>C	uc022bzs.1	+	0	772	c.772G>C	c.(772-774)Gac>Cac	p.D258H	PABPC5_uc004efg.3_Missense_Mutation_p.D258H	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	258	RRM 3.					cytoplasm	RNA binding|nucleotide binding	p.D258D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GGCTGTGCTAGACTTGCATGG	0.463000														94			22		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989088	66989088	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:66989088C>T	uc003xvs.1	+	3	604	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	105					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTACTTCATGCTGTCGAGCTG	0.433000														124			45		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983038	57983038	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57983038C>T	uc010rkc.2	+	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTACTTTTTCCCCTCCTCCA	0.473000														109			18		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182374525	182374525	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:182374525G>A	uc002unu.3	+	15	2599	c.1836G>A	c.(1834-1836)atG>atA	p.M612I	ITGA4_uc010frj.1_Missense_Mutation_p.M94I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	612					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGACATAATGAAAAAAACAG	0.328000														67			17		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585448	70585448	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:70585448G>A	uc003xyl.3	-	9	2910	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	SLCO5A1_uc010lzb.3_Missense_Mutation_p.R680C|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	735						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TACACAAAACGAAACGACGTC	0.463000														195			53		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994623	994623	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:994623C>T	uc021qss.1	+	18	6076	c.5433C>T	c.(5431-5433)tcC>tcT	p.S1811S	WNK1_uc001qio.4_Silent_p.S1551S|WNK1_uc021qst.1_Silent_p.S1803S|WNK1_uc001qip.4_Silent_p.S1304S|WNK1_uc001qir.4_Silent_p.S724S	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1551					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCTCTTCCTCTCCTGGAG	0.478000														550			79		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887086	123887086	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:123887086G>A	uc010sac.2	+	0	805	c.805G>A	c.(805-807)Gga>Aga	p.G269R		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGCCATGGATGGAGTTGTGGC	0.493000														130			12		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7718278	7718278	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:7718278G>A	uc010rbf.2	-	8	994	c.994C>T	c.(994-996)Cac>Tac	p.H332Y		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TAATATAGGTGGAGGCTTTCT	0.557000														16			13		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8206851	8206851	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:8206851G>A	uc002mjf.3	-	5	729	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	238						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGATATTGGGGATGAAGCCG	0.632000														46			15		0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1342378	1342378	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1342378G>A	uc010nyn.1	-	1	205	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	MRPL20_uc001afo.4_Missense_Mutation_p.R37C	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	37							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGTAGCAGCGATTTTTCCTT	0.597000														224			69		0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922295	184922295	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:184922295G>A	uc003fpf.3	-	5	895	c.819C>T	c.(817-819)ttC>ttT	p.F273F	EHHADH_uc011brs.2_Silent_p.F177F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	273	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCCTTTCAGCGAAGAAAGCAT	0.498000														237			25		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:54337720C>T	uc004dtc.2	-	2	981	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	WNK3_uc004dtd.2_Missense_Mutation_p.R181Q	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	181	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTAACTTTCGGTCCTGAAA	0.378000														58			6		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021839	132021839	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:132021839G>A	uc002tsn.2	+	14	2863	c.2811G>A	c.(2809-2811)gaG>gaA	p.E937E	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.E537E|POTEE_uc002tsl.2_Silent_p.E519E|POTEE_uc010fmy.1_Silent_p.E401E	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	937	Actin-like.						ATP binding										CCTCCCTAGAGAAGAGCTACG	0.617000														239			42		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58265022	58265022	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58265022C>T	uc002qpx.3	+	2	747	c.524C>T	c.(523-525)tCc>tTc	p.S175F	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.S175F	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T175M(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACTTTTTGTCCAGCTTGAGA	0.398000														82			36		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881389	94881389	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:94881389C>T	uc003unp.3	+	10	2828	c.2546C>T	c.(2545-2547)aCc>aTc	p.T849I	PPP1R9A_uc010lfj.3_Missense_Mutation_p.T871I|PPP1R9A_uc011kif.2_Missense_Mutation_p.T849I|PPP1R9A_uc003unq.3_Missense_Mutation_p.T849I|PPP1R9A_uc011kig.2_Missense_Mutation_p.T849I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	849	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGGGGATACCATGGAGAAC	0.393000										HNSCC(28;0.073)				117			13		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169532974	169532974	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:169532974G>A	uc003mai.4	+	0	58	c.13G>A	c.(13-15)Gac>Aac	p.D5N	FOXI1_uc003maj.4_Missense_Mutation_p.D5N	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	5					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCTCCTTCGACCTGCCGGC	0.697000									Pendred syndrome					27			3		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50882378	50882378	+	Missense_Mutation	SNP	C	T	T	rs150413435		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:50882378C>T	uc003blb.2	+	23	3106	c.2684C>T	c.(2683-2685)cCc>cTc	p.P895L	PPP6R2_uc003blc.3_Missense_Mutation_p.P888L|PPP6R2_uc003bky.2_Missense_Mutation_p.P862L|PPP6R2_uc003bla.2_Missense_Mutation_p.P862L|PPP6R2_uc003bkz.2_Missense_Mutation_p.P861L|PPP6R2_uc003bld.2_Missense_Mutation_p.P421L	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	895						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGGCTGTGCCCCCCGAGGCT	0.667000														10			6		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39644531	39644531	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39644531C>A	uc002hwt.3	-	2	663	c.663G>T	c.(661-663)aaG>aaT	p.K221N		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	221	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TCAGCTCCTCCTTCAGGGACT	0.592000														108			24		7.92952e-12	8.00102e-12	1	1	0
PPOX	5498	broad.mit.edu	37	1	161138933	161138933	+	Missense_Mutation	SNP	C	G	G	rs12735723	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:161138933C>G	uc001fyj.2	+	6	1057	c.767C>G	c.(766-768)cCg>cGg	p.P256R	PPOX_uc001fyg.2_Missense_Mutation_p.P256R|PPOX_uc010pkg.1_Missense_Mutation_p.P94R|PPOX_uc001fyi.2_Missense_Mutation_p.P94R|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	256			P -> R (in dbSNP:rs12735723).		heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGAGGCCAGCCGGTCTGTGGG	0.577000														99			6		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061765	189061765	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:189061765G>A	uc003izm.1	+	1	607	c.492G>A	c.(490-492)gtG>gtA	p.V164V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	164					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAGAGAGTGAAACTGTGCC	0.423000														104			18		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74018539	74018539	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:74018539C>T	uc010wss.1	-	4	789	c.561G>A	c.(559-561)aaG>aaA	p.K187K	EVPL_uc002jqi.2_Silent_p.K187K|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	187	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGTCGATCTCCTTCTGCAGGA	0.672000														30			3		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687133	158687133	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:158687133T>A	uc021pbn.1	-	0	773	c.773A>T	c.(772-774)tAc>tTc	p.Y258F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAACGCAAGTACATGAGTGA	0.458000														82			89		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108396404	108396404	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:108396404C>T	uc003dxd.3	+	25	3264	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	DZIP3_uc003dxf.1_Missense_Mutation_p.P948S|DZIP3_uc011bhm.2_Missense_Mutation_p.P399S	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	948					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TACCTTGCCTCCAGTCCAGCT	0.393000														286			78		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:46242662C>T	uc001ros.1	+	12	1624	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_uc001ror.3_Nonsense_Mutation_p.R542*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.R169*|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343000			"""N, S, F"""		hepatocellular carcinoma									38			21		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581166	25581166	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:25581166C>T	uc011djw.2	+	29	3125	c.2757C>T	c.(2755-2757)tcC>tcT	p.S919S	LRRC16A_uc010jpy.3_Silent_p.S919S	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	919					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCCTAAATCCAAAAGGAAGA	0.403000														15			5		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132788	161132788	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:161132788C>T	uc010pkc.2	+	6	1350	c.973C>T	c.(973-975)Cca>Tca	p.P325S	USP21_uc010pkd.2_Missense_Mutation_p.P325S|USP21_uc021pbv.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	325					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGCCGGGCTCCACCGATACT	0.582000														77			76		0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186300545	186300545	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:186300545C>T	uc003fqi.3	+	6	1458	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	241					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		ATTTACGGTTCCGAATCAAAG	0.398000														17			9		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53853069	53853069	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:53853069C>A	uc001sdl.4	+	5	607	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	PCBP2_uc001sde.4_Missense_Mutation_p.S86Y|PCBP2_uc001sdi.4_Missense_Mutation_p.S86Y|PCBP2_uc001sdd.4_Missense_Mutation_p.S86Y|PCBP2_uc001sdf.4_Missense_Mutation_p.S86Y|PCBP2_uc001sdc.4_Missense_Mutation_p.S86Y|PCBP2_uc001sdb.4_Missense_Mutation_p.S86Y|PCBP2_uc010soh.1_Missense_Mutation_p.S86Y|PCBP2_uc001sdg.1_Non-coding_Transcript	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	86					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAAGCAGCTCTATGACCAAT	0.483000														126			54		2.01807e-28	2.04296e-28	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52668785	52668785	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:52668785G>A	uc003des.2	-	10	1146	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.S378S|PBRM1_uc003der.2_Silent_p.S346S|PBRM1_uc003det.2_Silent_p.S378S|PBRM1_uc003deu.2_Silent_p.S378S|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.S378S|PBRM1_uc010hmk.1_Silent_p.S378S|PBRM1_uc003dey.2_Silent_p.S378S|PBRM1_uc003dez.1_Silent_p.S378S|PBRM1_uc003dfb.1_Silent_p.S276S	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	378					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATCCATAAAGGAAGTGATGC	0.393000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									119			57		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611036	44611036	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44611036C>T	uc002oyh.2	+	5	1040	c.723C>T	c.(721-723)ttC>ttT	p.F241F	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	241					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GGAAAGGCTTCAGTCGTAGAT	0.438000														287			54		0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1266825	1266825	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1266825G>A	uc010nyk.2	+	0	100	c.100G>A	c.(100-102)Gac>Aac	p.D34N		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	34					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GATGAAGGGGGACTACGTGCT	0.692000														33			11		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108809	75108809	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:75108809C>T	uc002ayt.1	+	2	374	c.372C>T	c.(370-372)gtC>gtT	p.V124V	LMAN1L_uc010bkd.2_Silent_p.V52V|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.V124V	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	124	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGGCTCTGTCCTTGGGGGGC	0.667000														105			36		0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46269029	46269029	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:46269029G>A	uc002pdb.3	-	2	2345	c.1950C>T	c.(1948-1950)ccC>ccT	p.P650P		NM_175875	NP_787071	Q8N196	SIX5_HUMAN	Homo sapiens SIX homeobox 5 (SIX5), mRNA.	650						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CCTCTGGTGGGGGCGCCGGGA	0.677000														72			14		0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44198084	44198084	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:44198084G>A	uc001ztl.3	-	5	670	c.493C>T	c.(493-495)Cct>Tct	p.P165S	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.P76S|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	165	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GAATGTTTAGGGAAAAACTGG	0.458000														117			16		0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43786558	43786558	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:43786558G>A	uc002zax.1	-	0	87	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	16					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						GGCCAGCATGGACACCAGGAC	0.662000														42			5		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711409	4711409	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:4711409G>A	uc002fzc.3	+	3	366	c.240_splice	c.e3+1	p.K80_splice	PLD2_uc010vsj.2_Splice_Site|PLD2_uc002fzd.3_Splice_Site_p.K80_splice	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	80	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCGGATCCAAGGTGGCCAGAC	0.642000														85			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38874114	38874114	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:38874114C>T	uc021yzh.1	+	62	9388	c.9279C>T	c.(9277-9279)atC>atT	p.I3093I	DNAH8_uc003ooe.2_Silent_p.I2876I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCACTTTCATCTTTACTGACA	0.353000														16			21		0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35827577	35827577	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:35827577G>A	uc002hnv.3	+	11	1212	c.843G>A	c.(841-843)agG>agA	p.R281R	TADA2A_uc002hnt.3_Silent_p.R281R|TADA2A_uc002hnw.3_Silent_p.R180R	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	281					histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AACTCCGAAGGGAAATCAAGA	0.383000														34			13		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943279	11943279	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:11943279G>A	uc002msp.1	+	3	1444	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGGAATGTGGGAAAGCCTT	0.413000														84			37		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160797600	160797600	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:160797600C>T	uc001fwu.3	+	9	2012	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	LY9_uc001fwv.3_Silent_p.F640F|LY9_uc001fww.3_Silent_p.F564F|LY9_uc001fwz.3_Silent_p.F269F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	654					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGAAAATTTCACCTGAAAGG	0.493000														138			93		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075208	104075208	+	Silent	SNP	G	A	A	rs145880799	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:104075208G>A	uc004bbb.3	+	5	1164	c.765G>A	c.(763-765)tcG>tcA	p.S255S	LPPR1_uc011lvi.2_Silent_p.S231S|LPPR1_uc004bbc.3_Silent_p.S255S|LPPR1_uc010mtc.3_Silent_p.S239S	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	255						integral to membrane	catalytic activity										ACCACTGCTCGGACGTGATTG	0.552000														162			23		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854773	4854773	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4854773G>A	uc001qne.1	+	4	1131	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	347						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGATCTGCATGATGTCACTGC	0.468000														52			7		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75114936	75114936	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:75114936C>T	uc001dgg.3	-	1	306	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	29										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GACGCCTTATCCTTGTATTGT	0.353000														63			38		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118648	58118649	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58118648_58118649CC>TT	uc002qpk.2	+	2	1975_1976	c.1755_1756CC>TT	c.(1753-1758)agccaa>agTTaa	p.Q586*	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATCCTTTAGCCAAAGCTCTGG	0.386000														114			13		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778625	110778625	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:110778625C>T	uc001tqk.4	+	13	2486	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	ATP2A2_uc001tql.4_Silent_p.F641F|ATP2A2_uc021rdt.1_Silent_p.F489F	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	641					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCGGCATCTTCGGGCAGGATG	0.612000														77			10		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22281076	22281076	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:22281076C>T	uc001mqi.2	+	14	1736	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V	ANO5_uc001mqj.2_Silent_p.V472V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	473						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCTCTTGTCGTCACCAGTA	0.383000														90			6		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228650	25228650	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:25228650C>T	uc002doc.3	+	1	226	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	48					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CTGCTCTCTTCATCTTCATCG	0.632000														239			54		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085872	17085872	+	Missense_Mutation	SNP	A	G	G	rs1806514	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:17085872A>G	uc010ock.2	-	7	949	c.949T>C	c.(949-951)Tgg>Cgg	p.W317R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.W307R(1)|p.W317R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGAGGTTCCAGCAGAAGTTC	0.662000														26			5		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205555197	205555197	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:205555197G>A	uc001hcv.4	+	5	1097	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	MFSD4_uc010prk.2_Silent_p.V250V|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.V282V	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	337					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTATGCTGTGGAGAAGCCCC	0.602000														44			9		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118215319	118215319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:118215319C>T	uc004era.4	-	13	5103	c.5103G>A	c.(5101-5103)tgG>tgA	p.W1701*		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1701										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCATGTGGCTCCATGCTTTGG	0.413000														207			31		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196871568	196871568	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:196871568C>G	uc001gtp.3	+	1	216	c.79C>G	c.(79-81)Cca>Gca	p.P27A	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.P26A|CFH_uc001gto.3_Missense_Mutation_p.P27A	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	328	Sushi 1.				complement activation, alternative pathway	extracellular space		p.R27I(1)|p.R27S(1)|p.R27>?(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGATTTTCCAGAAATTCA	0.279000														71			50		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090353	114090353	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:114090353C>T	uc011lwp.2	-	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						ACATAACGGTCATATGCCATC	0.527000														65			25		0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104230	26104230	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:26104230C>T	uc003ngi.3	+	0	55	c.55C>T	c.(55-57)Cat>Tat	p.H19Y		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	19					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R18R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TGCTAAGCGCCATCGTAAGGT	0.532000														105			15		0	0	1	0	0
FAM210B	116151	broad.mit.edu	37	20	54940142	54940142	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:54940142G>A	uc002xxc.3	+	2	266	c.187_splice	c.e2-1	p.D63_splice		NM_080821	NP_543011	Q96KR6	CT108_HUMAN	Homo sapiens family with sequence similarity 210, member B (FAM210B), mRNA.	63						integral to membrane											TTTGTACACAGGACCCCAGCC	0.498000														37			16		0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55828197	55828197	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:55828197G>A	uc010esw.1	-	6	635	c.462C>T	c.(460-462)ctC>ctT	p.L154L	TMEM150B_uc010yfu.1_Silent_p.L154L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	154						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GGCCCAGGCGGAGGGGCCCAA	0.612000														15			7		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013661	99013661	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:99013661C>T	uc010fij.3	+	7	2181	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	CNGA3_uc002syt.3_Silent_p.P676P|CNGA3_uc002syu.3_Silent_p.P658P			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	676					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGACAAGCCCCTGGCTGATG	0.557000														61			8		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107052662	107052662	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:107052662C>T	uc010ywi.1	-	11	1732	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	559					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTGTTTATTTCATGCTGAACT	0.358000														129			22		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306657	46306657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:46306657C>T	uc002zgd.2	-	13	2285	c.2241G>A	c.(2239-2241)tgG>tgA	p.W747*	ITGB2_uc002zgf.3_Nonsense_Mutation_p.W747*|ITGB2_uc011afl.1_Nonsense_Mutation_p.W669*|ITGB2_uc010gpw.2_Nonsense_Mutation_p.W690*|ITGB2_uc002zgg.2_Nonsense_Mutation_p.W747*	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	747					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.W747L(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTACATTGTTCCACTGGGACT	0.612000														90			14		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891977	18891977	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:18891977G>A	uc001rdy.3	+	0	933	c.775G>A	c.(775-777)Gat>Aat	p.D259N	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	259					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.D259Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCTACGAAGGGATCTTCCAGT	0.413000														65			45		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188302	7188302	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:7188302G>A	uc003bqm.2	+	1	957	c.683G>A	c.(682-684)gGa>gAa	p.G228E	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G228E|GRM7_uc003bql.2_Missense_Mutation_p.G228E	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	228					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCATCGGAAGGAAGTTATGGA	0.512000														79			11		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49321428	49321428	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:49321428G>A	uc003cwq.2	-	18	2611	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	USP4_uc003cwp.2_Silent_p.F574F|USP4_uc003cwr.2_Silent_p.F797F	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	844					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACCTGATTGGGAATTCTACGA	0.458000														166			19		0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63978596	63978596	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:63978596G>A	uc003xux.2	-	2	451	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	140	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AATAAGCTCGGATGTGATTAG	0.383000														68			8		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165673	172165673	+	Silent	SNP	G	A	A	rs4988509	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:172165673G>A	uc003fib.2	-	0	574	c.531C>T	c.(529-531)ccC>ccT	p.P177P	GHSR_uc011bpv.2_Silent_p.P177P	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	177					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCACGAAGATGGGCCCGGCGC	0.657000														53			31		0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482600	94482600	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:94482600G>A	uc001vlt.3	+	2	1145	c.513G>A	c.(511-513)cgG>cgA	p.R171R	GPC6_uc010tig.1_Silent_p.R171R|GPC6_uc001vlu.1_Silent_p.R101R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	171						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCCTGGAACGGATGTTTCAGC	0.488000														92			14		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765904	60765904	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:60765904G>A	uc002jad.3	+	21	3506	c.3104G>A	c.(3103-3105)tGg>tAg	p.W1035*	MRC2_uc002jae.3_Nonsense_Mutation_p.W106*|MRC2_uc002jaf.3_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1035	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TTTGACCTTTGGATTGGCCTC	0.567000														177			31		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605627	54605627	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:54605627C>T	uc001cwv.1	-	3	1764	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	306	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGTTGGGCTCCTCCAGGTCC	0.632000														32			23		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190780	104190780	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:104190780G>A	uc010swe.1	-	5	686	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	215							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGTCCATGAACTGCTTCA	0.522000														119			22		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	1987958	1987958	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:1987958G>A	uc001aiq.3	+	2	390	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	77	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GATGGAGCTGGAAGAGGCTTT	0.652000														37			31		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606747	21606747	+	Missense_Mutation	SNP	G	A	A	rs143136118		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:21606747G>A	uc002npw.3	+	3	1405	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	ZNF493_uc002npx.3_Missense_Mutation_p.G301E|ZNF493_uc002npy.3_Missense_Mutation_p.G301E|ZNF493_uc021urq.1_Missense_Mutation_p.G301E	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATTCATACTGGAGAGAAACCC	0.338000														50			8		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076945	108076945	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:108076945G>A	uc003dwz.3	+	5	1354	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	HHLA2_uc011bhl.2_Missense_Mutation_p.E250K|HHLA2_uc010hpu.3_Missense_Mutation_p.E314K|HHLA2_uc003dwy.4_Missense_Mutation_p.E314K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	314	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGACAGTGGGGAATATTTATG	0.363000														73			38		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039545	153039545	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:153039545G>A	uc010nuk.2	+	20	3851	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	PLXNB3_uc004fii.2_Missense_Mutation_p.D1171N|PLXNB3_uc011mzd.1_Missense_Mutation_p.D810N|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1171	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTCCTGGATGTGGAGGT	0.711000														27			6		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639241	7639241	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:7639241G>A	uc001qsz.3	-	9	2440	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	CD163_uc001qta.3_Missense_Mutation_p.S771F|CD163_uc009zfw.2_Missense_Mutation_p.S804F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	771	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAAATGAGCAGAACCAGTGGC	0.562000														297			39		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5010961	5010961	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5010961C>T	uc001lzv.3	+	1	201	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	61					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGCAACAATTCCATCGGAATG	0.522000														35			5		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721145	160721145	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:160721145G>A	uc003lys.1	-	10	1700	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	GABRB2_uc011deh.1_Silent_p.F295F|GABRB2_uc003lyr.1_Silent_p.F456F|GABRB2_uc003lyt.1_Silent_p.F456F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	494					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCACTGGGAAGAATATGCGGG	0.468000														89			15		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315350	22315350	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:22315350G>A	uc001wbz.1	+	1	513	c.288G>A	c.(286-288)acG>acA	p.T96T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.T77T					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		TCCACCTGACGAAACCCTCAG	0.512000														105			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783203	140783203	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140783203C>T	uc003lkh.2	+	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.I228I	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	228	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCGCATCCATGTGACAG	0.607000														60			10		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137743566	137743566	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:137743566G>A	uc003ero.1	+	3	556	c.503_splice	c.e3+1	p.R168_splice	CLDN18_uc003erp.1_Splice_Site_p.R168_splice|CLDN18_uc010hue.1_Intron	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	168					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GTTCAGACCAGGTAACCTCCT	0.453000														91			46		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39308225	39308225	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:39308225G>A	uc003gty.2	-	13	2125	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	RFC1_uc003gtx.2_Missense_Mutation_p.S661F	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	662					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACACACCAGGGAAGCTGTGGT	0.512000														32			8		0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231047264	231047264	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:231047264G>A	uc001huf.4	-	19	2303	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	TTC13_uc001hug.4_Missense_Mutation_p.S700F|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.S643F	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	754							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATAAACTAAGGATAAGATTAA	0.289000														18			10		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306499	2306499	+	Missense_Mutation	SNP	G	A	A	rs151169783		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:2306499G>A	uc003gex.2	-	7	1888	c.1568C>T	c.(1567-1569)tCg>tTg	p.S523L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.S453L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.S493L|ZFYVE28_uc003gew.2_Missense_Mutation_p.S409L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	523					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGAAGTGGGCGATTTGGGGTT	0.677000														50			8		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407149	75407149	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:75407149G>A	uc004aiz.1	+	16	1987	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMC1_uc010moz.1_Missense_Mutation_p.E441K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.E337K|TMC1_uc010mpa.1_Missense_Mutation_p.E337K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	483					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TACCCTTTGGGAAGCCAATAT	0.413000														226			37		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391277	125391277	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:125391277G>A	uc011lyz.2	-	0	538	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AAGTGAGGAAGGTTAACGTTG	0.527000														37			11		0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937852	4937852	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:4937852G>A	uc002gap.4	-	1	763	c.50C>T	c.(49-51)gCc>gTc	p.A17V	SLC52A1_uc002gao.4_Missense_Mutation_p.A17V|SLC52A1_uc010ckw.3_5'UTR|SLC52A1_uc010ckx.3_Missense_Mutation_p.A17V	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	17						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCCAAAAAGGGCCACCAGCAG	0.627000														65			35		0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126523218	126523218	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:126523218C>T	uc001lib.4	+	8	971	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	309						BRISC complex	polyubiquitin binding			NS(1)	1						CCCCCTTACTCTGATTTTCAC	0.517000														54			14		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42222625	42222625	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:42222625A>C	uc003ose.2	-	12	3243	c.2680T>G	c.(2680-2682)Tta>Gta	p.L894V	TRERF1_uc011duq.1_Missense_Mutation_p.L791V|TRERF1_uc003osb.2_Missense_Mutation_p.L630V|TRERF1_uc003osc.2_Missense_Mutation_p.L630V|TRERF1_uc003osd.2_Missense_Mutation_p.L874V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	874	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGACATTTTAACCTGACAGGC	0.522000														116			19		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050937	103050937	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:103050937G>A	uc003vbz.3	-	6	892	c.630C>T	c.(628-630)gtC>gtT	p.V210V	SLC26A5_uc003vbt.2_Silent_p.V210V|SLC26A5_uc003vbu.2_Silent_p.V210V|SLC26A5_uc003vbv.2_Silent_p.V210V|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.V210V	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	210					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TAAACCCACGGACCAGAGGCT	0.413000														79			9		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53581619	53581619	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:53581619C>T	uc004dsp.3	-	60	8871	c.8469G>A	c.(8467-8469)atG>atA	p.M2823I	HUWE1_uc004dsn.3_Missense_Mutation_p.M1647I|DM119504_uc022bxh.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2823					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGATAACTCCATCTGAGTTG	0.488000														71			14		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727608	39727608	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39727608C>T	uc002hxe.4	-	0	703	c.637G>A	c.(637-639)Gac>Aac	p.D213N	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	213	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTACCTGGTCCTTGAGATCA	0.403000														161			19		0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948838	133948839	+	Missense_Mutation	DNP	AT	TA	TA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:133948838_133948839AT>TA	uc004exz.2	+	1	554_555	c.148_149AT>TA	c.(148-150)att>TAt	p.I50Y	FAM122C_uc010nru.2_Missense_Mutation_p.I86Y|FAM122C_uc004exx.3_Missense_Mutation_p.I50Y|FAM122C_uc004exw.3_Missense_Mutation_p.I50Y|FAM122C_uc011mvq.2_Non-coding_Transcript|FAM122C_uc022ceo.1_Missense_Mutation_p.I50Y|FAM122C_uc004exy.2_Missense_Mutation_p.I50Y	NM_001170779	NP_001164250	Q6P4D5	F222C_HUMAN	Homo sapiens family with sequence similarity 122C (FAM122C), transcript variant 1, mRNA.	50										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CATGTTAAGAATTAGGACAAAC	0.327000														177			15		0	0	1	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165395	134165396	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:134165395_134165396CC>TT	uc004cal.2	+	0	315_316	c.11_12CC>TT	c.(10-12)tcc>tTT	p.S4F		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 3 (PPAPDC3), mRNA.	4						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		ATGCCAGCTTCCCAGAGCCGGG	0.708000														28			4		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	980483	980483	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:980483C>T	uc021qss.1	+	9	4074	c.3431C>T	c.(3430-3432)tCa>tTa	p.S1144L	WNK1_uc001qio.4_Missense_Mutation_p.S731L|WNK1_uc021qst.1_Missense_Mutation_p.S1229L|WNK1_uc001qip.4_Missense_Mutation_p.S731L|WNK1_uc001qir.4_Intron	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	889					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAGGGGTTTCATCTTCCCAA	0.433000														94			11		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41906287	41906287	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:41906287G>A	uc010lxb.3	-	2	753	c.209C>T	c.(208-210)tCc>tTc	p.S70F	KAT6A_uc010lxc.3_Missense_Mutation_p.S70F|KAT6A_uc003xon.4_Missense_Mutation_p.S70F|KAT6A_uc010lxd.3_Missense_Mutation_p.S70F	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	70	Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ATCTTTATAGGAATTGAGTCC	0.353000														178			52		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889509	30889509	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:30889509C>T	uc003xin.3	-	0	809	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.G264R	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	264						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAAGAAGTCCCCTCTGGGAGT	0.458000														79			20		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357251	79357251	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:79357251C>T	uc001diq.4	-	13	2124	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	656					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGAACATCCCCTGGAAAGCAT	0.408000														38			45		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14980716	14980716	+	Silent	SNP	C	T	T	rs147492209	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:14980716C>T	uc002dcv.3	+	27	3387	c.3321C>T	c.(3319-3321)ggC>ggT	p.G1107G		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1107						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TCAGAGACGGCGAGGTAATGC	0.463000														246			44		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030428	95030428	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:95030428G>A	uc010avd.3	+	1	994	c.720G>A	c.(718-720)aaG>aaA	p.K240K	SERPINA4_uc001ydk.3_Silent_p.K203K|SERPINA4_uc001ydl.3_Silent_p.K203K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	203					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AGCTCAAGAAGGACGTCTTGA	0.458000														163			74		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489189	42489189	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:42489189G>A	uc002osh.3	-	7	1028	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	ATP1A3_uc010xwf.2_Silent_p.L303L|ATP1A3_uc010xwg.2_Silent_p.L262L|ATP1A3_uc002osg.3_Silent_p.L292L|ATP1A3_uc010xwh.2_Silent_p.L305L			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	292					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGACACCCAGGAAGACAGCC	0.587000														30			7		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462985	62462985	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:62462985C>T	uc001xfu.1	+	0	445	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SYT16_uc010tsd.1_Missense_Mutation_p.S83F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATGCAAATTCCTTGTTTCTT	0.388000														157			30		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431595	135431595	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:135431595G>A	uc004ezu.1	+	5	6021	c.5730G>A	c.(5728-5730)gaG>gaA	p.E1910E	GPR112_uc010nsb.1_Silent_p.E1705E|GPR112_uc010nsc.1_Silent_p.E1677E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1910					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGAAACAGAGACTCTACACC	0.433000														195			37		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950649	235950649	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:235950649C>T	uc002vvp.3	+	3	1629	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	SH3BP4_uc010fym.3_Silent_p.G412G|SH3BP4_uc002vvq.3_Silent_p.G412G	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	412					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCACAGTGGGCCTCCAGTGCC	0.537000														48			13		0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936631	57936631	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:57936631G>A	uc004dve.3	-	0	437	c.224C>T	c.(223-225)gCg>gTg	p.A75V		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	75					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGCCTCGGCGCGAACAGGCT	0.761000														23			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753599	13753599	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:13753599G>A	uc003jfd.2	-	62	10657	c.10615C>T	c.(10615-10617)Cgt>Tgt	p.R3539C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3539					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAAGATCACGAAACTCTTGG	0.378000									Kartagener syndrome					108			24		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049363	8049363	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:8049363T>A	uc002gkd.3	-	16	2369	c.2131A>T	c.(2131-2133)Aag>Tag	p.K711*	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Nonsense_Mutation_p.K695*	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	711	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTCCGCCTTATTGGCCAGG	0.652000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						84			12		0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50645558	50645558	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:50645558G>A	uc010hlq.3	-	3	595	c.308C>T	c.(307-309)tCc>tTc	p.S103F	CISH_uc003dax.3_Missense_Mutation_p.S86F	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	86	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCGTAATGGAACCCCAATA	0.567000														48			15		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148523568	148523568	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:148523568G>A	uc003wfd.2	-	7	1078	c.885C>T	c.(883-885)ttC>ttT	p.F295F	EZH2_uc022aov.1_Silent_p.F256F|EZH2_uc011kug.2_Silent_p.F286F|EZH2_uc003wfb.2_Silent_p.F295F|EZH2_uc003wfc.2_Silent_p.F256F|EZH2_uc011kuh.2_Silent_p.F286F|EZH2_uc011kui.2_Silent_p.F295F|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	295	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TACGATGTAGGAAGCAGTCAT	0.353000			Mis		DLBCL									47			18		0	0	1	0	0
KCTD15	79047	broad.mit.edu	37	19	34302394	34302394	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:34302394C>T	uc002nuy.4	+	5	898	c.630C>T	c.(628-630)aaC>aaT	p.N210N	KCTD15_uc002nuv.3_Silent_p.N210N|KCTD15_uc002nuw.4_Silent_p.N210N|KCTD15_uc010xrt.2_Silent_p.N210N|KCTD15_uc002nux.4_Silent_p.N210N	NM_001129994	NP_001123467	Q96SI1	KCD15_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA.	210						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CCGGCTGGAACCAGGACCCCA	0.677000														56			4		0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305142	44305142	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:44305142C>T	uc003jog.1	-	2	582	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	194					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGTGTTTTTCCTTCGTGTTT	0.438000														171			30		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443390	78443390	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:78443390C>T	uc001ozl.4	-	20	3572	c.3109G>A	c.(3109-3111)Gag>Aag	p.E1037K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1037					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGCCTTTCTCTGCACAGGAG	0.527000														45			30		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323679	29323679	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:29323679C>T	uc011dlo.2	-	0	376	c.294G>A	c.(292-294)gtG>gtA	p.V98V		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGTTGAACCACACACCCCA	0.428000														135			15		0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95118870	95118870	+	Missense_Mutation	SNP	C	T	T	rs80350829	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:95118870C>T	uc010afh.3	-	2	1065	c.638G>A	c.(637-639)gGa>gAa	p.G213E	DCT_uc001vlv.4_Missense_Mutation_p.G213E	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	213					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAATGCAGGTCCTTGATGTGA	0.373000														60			13		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350260	76350260	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:76350260G>A	uc002fex.1	+	0	184	c.45G>A	c.(43-45)acG>acA	p.T15T	CNTNAP4_uc002feu.1_Intron|CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002few.2_Intron	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGATTCCACGAAAGCCTCAG	0.428000														16			3		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471041	94471041	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:94471041G>A	uc001dqh.3	-	43	6207	c.6103C>T	c.(6103-6105)Ctt>Ttt	p.L2035F	ABCA4_uc001dqi.1_Missense_Mutation_p.L154F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2035	ABC transporter 2.		L -> P (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGCATAAAGGTAAAGATGT	0.413000														94			84		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10367885	10367885	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:10367885C>T	uc002gmn.3	-	6	663	c.552G>A	c.(550-552)ggG>ggA	p.G184G	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	184	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCACAGTCTTCCCTGCACCAG	0.428000														63			21		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332054	107332054	+	Silent	SNP	G	A	A	rs146773946		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:107332054G>A	uc011lvo.2	+	0	606	c.606G>A	c.(604-606)tcG>tcA	p.S202S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGACAGGGTCGAATCTGATTG	0.348000														95			49		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109782121	109782121	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:109782121G>A	uc021xqo.1	-	21	1260	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	COL25A1_uc003hze.1_Missense_Mutation_p.R402C|COL25A1_uc021xqp.1_Missense_Mutation_p.R402C|COL25A1_uc003hzg.3_Missense_Mutation_p.R402C|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.R168C	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	402	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTTTCTCCACGATCCCCCTTT	0.438000														65			6		0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15345738	15345738	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:15345738C>T	uc003bzp.1	-	3	391	c.202_splice	c.e3-1	p.D68_splice	SH3BP5_uc003bzq.1_Splice_Site|SH3BP5_uc003bzr.1_5'UTR	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	68					intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGACGAGCATCCTGCAGCCAG	0.488000														82			10		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293060	130293060	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130293060G>A	uc010htl.3	+	6	3269	c.3238G>A	c.(3238-3240)Ggt>Agt	p.G1080S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1080	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.G1080S(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACACACATCGGTGCTGCACT	0.473000														88			31		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153631	105153631	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:105153631G>A	uc004emd.3	+	12	2301	c.1998G>A	c.(1996-1998)atG>atA	p.M666I	NRK_uc010npc.1_Missense_Mutation_p.M334I	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	666							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAACCCTGATGGAAAATCTGT	0.433000										HNSCC(51;0.14)				17			3		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405684	47405684	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:47405684C>T	uc003gxh.3	+	6	1165	c.791C>T	c.(790-792)tCt>tTt	p.S264F	GABRB1_uc011bze.2_Missense_Mutation_p.S194F	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	264					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCTGGGTGTCTTTTTGGATC	0.398000														59			17		0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17832625	17832625	+	Silent	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:17832625T>C	uc003gpp.3	+	12	1946	c.1770T>C	c.(1768-1770)ctT>ctC	p.L590L	NCAPG_uc011bxj.2_Silent_p.L99L	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	590					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTTAGATTCTTCCTGGAATAA	0.343000														33			10		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33372990	33372990	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:33372990C>T	uc003oef.4	+	6	1568	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	KIFC1_uc011drf.2_Missense_Mutation_p.S365F	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	373	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CATGATTTTTCCTTTGACCGG	0.582000														195			27		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770200	38770200	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:38770200C>T	uc003ciq.3	-	14	2473	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	825					sensory perception	voltage-gated sodium channel complex		p.E825D(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCCAGTCTTCATGGGGCGCG	0.512000														91			21		0	0	1	0	0
NAPSB	256236	broad.mit.edu	37	19	50838111	50838111	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:50838111C>T	uc002prw.3	-	6	904	c.128G>A	c.(127-129)gGg>gAg	p.G43E	NR1H2_uc002prv.4_Intron					Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA.											central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GGGGATTCCCCCAATGGCTGC	0.617000														19			5		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91549210	91549210	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:91549210C>T	uc003hsv.4	+	5	2099	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Nonsense_Mutation_p.Q587*	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	587								p.D586D(1)		NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GGACGTTGATCAAGAAGCCAG	0.433000														81			16		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118817125	118817125	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:118817125G>A	uc003yok.1	-	9	2664	c.1891C>T	c.(1891-1893)Cac>Tac	p.H631Y		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	631					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TATAGGTAGTGATAATATCTG	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					89			32		0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39831567	39831567	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:39831567G>A	uc010ggg.1	-	0	2140	c.1990C>T	c.(1990-1992)Cgg>Tgg	p.R664W	ZHX3_uc002xjr.1_Missense_Mutation_p.R664W|ZHX3_uc002xjs.1_Missense_Mutation_p.R664W|ZHX3_uc002xjt.1_Missense_Mutation_p.R664W|ZHX3_uc002xju.1_Missense_Mutation_p.R664W|ZHX3_uc002xjv.1_Missense_Mutation_p.R664W|ZHX3_uc002xjw.1_Missense_Mutation_p.R664W	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	664					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTTTTTTCCGTCTCTCTGAA	0.493000														274			47		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28854959	28854959	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:28854959G>A	uc002rmb.2	+	54	3998	c.3954G>A	c.(3952-3954)gcG>gcA	p.A1318A	PLB1_uc010ezj.2_Silent_p.A1307A|PLB1_uc002rme.2_Silent_p.A283A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1318	4 X 308-326 AA approximate repeats.		A -> V (in dbSNP:rs2199619).		lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGACTTTGCGGTTGTGGTGC	0.547000														84			28		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482601	39482601	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:39482601C>T	uc011byn.2	+	0		c.727C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		TCACTCCGATCCAGTCTCGGC	0.488000														49			12		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907734	3907734	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:3907734G>A	uc010xhz.2	+	5	862	c.379G>A	c.(379-381)Gac>Aac	p.D127N	ATCAY_uc002lyy.4_Missense_Mutation_p.D121N|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	121					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCTTCTAGACGACACCCCCGT	0.677000														31			10		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458637	129458637	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:129458637C>T	uc011maa.2	+	7	1135	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	LMX1B_uc004bqi.3_Silent_p.F365F|LMX1B_uc004bqj.3_Silent_p.F372F	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	349					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGACTGCTTCCTCGGCTCCT	0.627000									Nail-Patella Syndrome					170			35		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	2999054	2999054	+	Splice_Site	SNP	G	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:2999054G>T	uc022brz.1	+	5	542	c.406_splice	c.e5+1	p.G136_splice	ARSF_uc004cre.2_Splice_Site_p.G136_splice|ARSF_uc004crf.2_Splice_Site_p.G136_splice	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	136						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCTTATAGGTAAGACACA	0.423000														102			16		2.23348e-06	2.24442e-06	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50381220	50381220	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:50381220G>A	uc004dpe.2	-	2	384	c.358C>T	c.(358-360)Cct>Tct	p.P120S	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.P4S	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	120					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTTCAGAAGGGAAATGCATG	0.577000														22			14		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49427309	49427309	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:49427309G>C	uc001rta.4	-	38	11179	c.11179C>G	c.(11179-11181)Cgt>Ggt	p.R3727G		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3727	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGCTGCATACGTTGCTGCTGC	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				46			7		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434184	72434184	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:72434184C>T	uc004ebi.3	-	0	527	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	49					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GCAGCTTCTTCACCGCACTTC	0.567000														64			25		0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15646186	15646186	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:15646186C>T	uc004cxc.2	-	5	833	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	193					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					ATGCCATTTTCAATTGTGATC	0.438000														46			21		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746665	121746665	+	Missense_Mutation	SNP	G	A	A	rs150597008		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:121746665G>A	uc010flp.3	+	12	3205	c.3175G>A	c.(3175-3177)Gac>Aac	p.D1059N	GLI2_uc002tmq.1_Missense_Mutation_p.D731N|GLI2_uc002tmr.1_Missense_Mutation_p.D714N|GLI2_uc002tmt.4_Missense_Mutation_p.D731N|GLI2_uc002tmu.4_Missense_Mutation_p.D714N	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1059					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGGAGGACGACCTGGTGCT	0.706000														61			24		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147744025	147744025	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:147744025A>G	uc004fcp.3	+	2	1256	c.777A>G	c.(775-777)ttA>ttG	p.L259L	AFF2_uc004fco.3_Silent_p.L255L|AFF2_uc004fcq.3_Silent_p.L255L|AFF2_uc004fcr.3_Silent_p.L255L|AFF2_uc011mxb.2_Silent_p.L259L|AFF2_uc004fcs.3_Silent_p.L255L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	259					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTTATTAGCTCCTAGCA	0.488000														287			38		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586524	169586524	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:169586524C>T	uc001ggi.4	-	2	288	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.E75K	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	75	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TAATCAATTTCATTTTTATTC	0.403000														124			159		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45135121	45135121	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:45135121C>T	uc003com.3	-	5	1410	c.1275G>A	c.(1273-1275)agG>agA	p.R425R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	425	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTAGGATTTCCTTTGGCAGT	0.597000														248			29		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832996	130832996	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:130832996C>T	uc010fmh.2	-	16	2449	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	683						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCTTTTTTTCACACTTTCAA	0.413000														53			17		0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23722059	23722059	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:23722059G>A	uc004dao.3	-	15	1445	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	ACOT9_uc004dan.3_Silent_p.S174S|ACOT9_uc004dap.3_Silent_p.S424S|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Silent_p.S364S	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	424					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GGCCACTCATGGAGTTGAAAT	0.453000														54			19		0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532172	190532172	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:190532172G>T	uc002uqt.3	+	3	1748	c.1314G>T	c.(1312-1314)caG>caT	p.Q438H		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	438	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAGAACTGCAGAAATTAAGAA	0.403000														165			21		0.000132079	0.000132509	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228505789	228505789	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:228505789C>T	uc009xez.1	+	52	14090	c.14046C>T	c.(14044-14046)atC>atT	p.I4682I	OBSCN_uc001hsn.3_Silent_p.I4682I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4682	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGGTGATCAAGGGCTTCA	0.642000														44			45		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889486	147889486	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:147889486G>A	uc021yfj.1	-	4	656	c.609C>T	c.(607-609)atC>atT	p.I203I	HTR4_uc021yfg.1_Silent_p.I203I|HTR4_uc021yfh.1_Silent_p.I203I|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.I203I|HTR4_uc011dby.1_Silent_p.I203I|HTR4_uc003lpn.3_Silent_p.I203I|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.I203I	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	203					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGAGAAATGGGATGTAGAAGG	0.507000														37			10		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887905	111887905	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:111887905C>T	uc003dyu.3	-	24	3278	c.3056G>A	c.(3055-3057)tGg>tAg	p.W1019*	SLC9C1_uc011bhu.2_Nonsense_Mutation_p.W282*|SLC9C1_uc010hqc.3_Nonsense_Mutation_p.W971*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1019					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATTGTAGTTCCAATCCTGTTT	0.259000														36			9		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21998755	21998755	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:21998755C>T	uc001rfh.3	-	23	2898	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	ABCC9_uc001rfi.1_Missense_Mutation_p.E960K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	960					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATCTTCCTCCTCTTCTTCC	0.398000														59			4		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013336	103013336	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:103013336C>T	uc002tbw.4	+	10	1766	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	IL18R1_uc010ywd.2_Missense_Mutation_p.S383F|IL18R1_uc010fiy.3_Missense_Mutation_p.S539F|IL18R1_uc010ywc.2_Missense_Mutation_p.S538F	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGTTCTTTCCGAGTCTTAA	0.418000														49			14		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116116603	116116603	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:116116603G>A	uc004bhg.4	+	1	333	c.285G>A	c.(283-285)aaG>aaA	p.K95K	BSPRY_uc010muw.3_Silent_p.K95K	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	95					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCCGGGGAAGAATCAAAGAG	0.522000														45			6		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14095134	14095134	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:14095134G>A	uc003wwq.3	-	3	1051	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	SGCZ_uc010lss.3_Missense_Mutation_p.H84Y	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	118					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGCCCCATGTGATTTCTTGCA	0.383000														502			150		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136290691	136290691	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:136290691C>T	uc004cdv.4	+	3	817	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R125W|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R125W|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R125W|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R125W|ADAMTS13_uc004cdq.1_Missense_Mutation_p.R125W|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_5'UTR	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	125	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.R125W(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCTCAGTTTCGGGTGCACCT	0.607000														21			8		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10506525	10506525	+	Missense_Mutation	SNP	G	A	A	rs145610067		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:10506525G>A	uc001min.1	+	4	1120	c.775G>A	c.(775-777)Gac>Aac	p.D259N	AMPD3_uc010rbz.1_Missense_Mutation_p.D91N|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.D250N|AMPD3_uc001mio.1_Missense_Mutation_p.D250N|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.D257N|AMPD3_uc009yfy.2_Missense_Mutation_p.D250N	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	250					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACCCTACCCCGACCTGGAGAC	0.577000														54			8		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271945	137271945	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:137271945G>A	uc003vtt.3	-	12	1324	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	DGKI_uc003vtu.3_Silent_p.I141I	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	441	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGATGGAAAGGATCCAGCCCA	0.517000														103			9		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563178	125563178	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:125563178C>T	uc011lze.2	+	0	777	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCATTGCAGTCTACTTCCAGG	0.617000														169			33		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40864494	40864494	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:40864494G>A	uc010wgu.2	-	10	1268	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	EZH1_uc002iaz.3_Missense_Mutation_p.S405F|EZH1_uc002iba.3_Missense_Mutation_p.S396F|EZH1_uc010wgt.2_Missense_Mutation_p.S335F|EZH1_uc010wgv.2_Missense_Mutation_p.S365F|EZH1_uc010wgw.2_Missense_Mutation_p.S266F|EZH1_uc010cyp.2_Missense_Mutation_p.S306F|EZH1_uc010cyq.2_Missense_Mutation_p.S322F|EZH1_uc010cyo.1_Missense_Mutation_p.S68F|EZH1_uc010cyr.1_Missense_Mutation_p.S57F	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	405					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGACAGCGAGAGTTAGCCTC	0.483000														103			20		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981719	92981719	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:92981719C>T	uc002bra.3	+	3	582	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	ST8SIA2_uc002brb.3_Missense_Mutation_p.L122F	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	143					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTACGAGCTCCTCCCCAGGAC	0.517000														144			55		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980706	110980706	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:110980706G>A	uc003ynr.4	-	2	1918	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	KCNV1_uc010mcw.3_Missense_Mutation_p.P372S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	372						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTTGTGTCAGGAATGCTTTGC	0.478000														85			28		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163268	211163268	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:211163268G>A	uc002vec.3	-	2	309	c.180C>T	c.(178-180)ctC>ctT	p.L60L	MYL1_uc002veb.3_Silent_p.L16L	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	60	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGTCAAACAGGAGAAATGCCT	0.423000														77			24		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898966	36898966	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:36898966G>A	uc003cgj.3	-	11	2363	c.2115C>T	c.(2113-2115)ttC>ttT	p.F705F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	705					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTCCTCTGGGAAAGACGGAT	0.562000														55			28		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007900	6007900	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:6007900G>A	uc001mcd.2	-	0	316	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V87L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACCAGGTCGATGGCAGCTA	0.522000														24			10		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790844	8790844	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:8790844C>T	uc003srv.3	+	2	1172	c.261C>T	c.(259-261)ctC>ctT	p.L87L	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	87	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGCAAGACCTCTGGGACTGGC	0.488000														83			9		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323360	31323360	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:31323360G>A	uc003jhe.2	+	11	2678	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	773					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGGGACCTCGATTCAAAAAG	0.463000														103			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062445	9062445	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9062445G>A	uc002mkp.3	-	2	25205	c.25001C>T	c.(25000-25002)aCc>aTc	p.T8334I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8336	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCAAAGTGGTCAGTCTCTC	0.493000														130			15		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170023	22170023	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:22170023G>A	uc021urr.1	-	2	370	c.221C>T	c.(220-222)tCc>tTc	p.S74F	ZNF208_uc002nqo.1_Missense_Mutation_p.S74F|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTACCTGGGGATTCTTCCAC	0.438000														57			8		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608132	29608132	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:29608132G>A	uc001usl.4	+	1	2404	c.2346G>A	c.(2344-2346)ttG>ttA	p.L782L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	772	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCTAGGATTGGGTGCAATGT	0.502000														69			11		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942300	144942300	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:144942300C>T	uc003zaa.1	-	0	5135	c.5122G>A	c.(5122-5124)Ggc>Agc	p.G1708S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1708						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAAGTAGCCGCAGCGGTAG	0.672000														124			8		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70890408	70890408	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:70890408G>A	uc003pfc.1	+	43	2885	c.2768G>A	c.(2767-2769)gGa>gAa	p.G923E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	923	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCCTCAGGAAAGCCAGTA	0.398000														68			9		0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120053969	120053969	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:120053969G>A	uc003edr.2	-	2	743	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA.	216										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		AAGACTTAGGGAACGAAGTGA	0.343000														61			17		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45017003	45017003	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:45017003C>T	uc010ejn.1	-	7	1453	c.1437G>A	c.(1435-1437)agG>agA	p.R479R	CEACAM20_uc010ejo.1_Silent_p.R479R|CEACAM20_uc010ejp.1_Silent_p.R386R|CEACAM20_uc010ejq.1_Silent_p.R386R	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	479						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGTTGTTTTCCTTGAGGGCC	0.527000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			5		0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67662408	67662408	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:67662408C>T	uc002etl.3	+	8	2098	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	CTCF_uc010cek.3_Missense_Mutation_p.P224S|CTCF_uc002etm.1_Missense_Mutation_p.P41S	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	552					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.P552S(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAACTTCGTCCCTGCGGCTTT	0.498000														164			77		0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255165	155255165	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:155255165A>T	uc003wmb.3	+	1	1034	c.785A>T	c.(784-786)gAg>gTg	p.E262V		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAAGGCCGAGTTCCAGACC	0.592000														190			18		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717425	73717425	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:73717425C>T	uc002sje.1	+	9	8447	c.8336C>T	c.(8335-8337)tCa>tTa	p.S2779L	ALMS1_uc002sjf.1_Missense_Mutation_p.S2737L|ALMS1_uc002sjg.3_Missense_Mutation_p.S2167L|ALMS1_uc002sjh.1_Missense_Mutation_p.S2167L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2779					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATAGTAATTCACAAGATAAA	0.348000														82			24		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534395	52534395	+	Silent	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:52534395T>A	uc010bff.3	-	19	2568	c.2406A>T	c.(2404-2406)gcA>gcT	p.A802A	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	802	IQ 2.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAAGGCCACTGCAGTAATAG	0.478000														366			51		0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73638353	73638353	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:73638353C>T	uc001ouk.1	+	11	1159	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	PAAF1_uc001oul.1_Silent_p.I358I|PAAF1_uc001oum.1_Silent_p.I358I	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	375					interspecies interaction between organisms	proteasome complex	protein binding	p.Q374L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGAAGCAGATCTACACATGCT	0.458000														51			18		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671516	39671516	+	Silent	SNP	G	A	A	rs142632089		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:39671516G>A	uc021wjc.1	+	0	333	c.333G>A	c.(331-333)gtG>gtA	p.V111V	KCNJ15_uc002ywv.3_Silent_p.V111V|KCNJ15_uc002yww.3_Silent_p.V111V|KCNJ15_uc002ywx.3_Silent_p.V111V	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	111					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCATGAAAGTGGACTCTCTCA	0.493000														139			42		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835154	12835154	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:12835154C>T	uc001aui.3	+	0	171	c.144C>T	c.(142-144)tgC>tgT	p.C48C		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	48										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)		CCAGGAGATGCTGCGAGACCC	0.582000														75			55		0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055622	49055622	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:49055622G>A	uc003cvk.1	-	1	315	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	DALRD3_uc003cvl.1_Missense_Mutation_p.L99F|DALRD3_uc003cvm.1_5'UTR|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Missense_Mutation_p.L99F|NDUFAF3_uc003cvn.3_5'Flank|NDUFAF3_uc003cvp.3_5'Flank	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	99					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACGGCGCTGAGGACGCGCTCG	0.741000														3			4		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4700407	4700407	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:4700407G>A	uc009zeh.1	+	4	448	c.406G>A	c.(406-408)Gat>Aat	p.D136N	DYRK4_uc001qmx.3_Missense_Mutation_p.D21N|DYRK4_uc001qmy.2_Missense_Mutation_p.D21N|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	21	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TAAAACCCAGGATCCCAAGGC	0.517000														63			10		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43108268	43108268	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:43108268C>T	uc009vwk.1	+	11	1873	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	CCDC30_uc001chm.2_Missense_Mutation_p.S286F|CCDC30_uc001chn.2_Missense_Mutation_p.S377F	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	588										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACGATATCTTCCATCCAGAGC	0.458000														105			126		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106695	55106695	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:55106695A>G	uc002qgh.1	+	4	671	c.489A>G	c.(487-489)gaA>gaG	p.E163E	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.E163E	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	163	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGAAGATGAACACCCACAAT	0.587000														173			67		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534472	43534472	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:43534472C>T	uc002lbm.3	-	1	996	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	EPG5_uc002lbo.1_Missense_Mutation_p.R299Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	299					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTCCTACATCGTGAGTAGTT	0.428000														111			19		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375200	2375200	+	Missense_Mutation	SNP	C	T	T	rs140181785	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:2375200C>T	uc002wfy.1	+	1	171	c.110C>T	c.(109-111)tCg>tTg	p.S37L	TGM6_uc010gal.1_Missense_Mutation_p.S37L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	37					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S37*(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGGGGCCAGTCGTTCAGCCTC	0.617000														32			6		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126710399	126710399	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:126710399G>A	uc003ejg.3	+	1	1367	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	456	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAAGTGGCCGCATCCGCAAG	0.677000														44			5		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120853	38120853	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:38120853G>A	uc001izd.1	-	5	1929	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.S477L	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S477*(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AGTGAGGGCTGATCTGTGGCA	0.438000														111			27		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30873201	30873201	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr18:30873201C>T	uc010xbr.1	-	10	1240	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	C18orf34_uc002kxn.2_Silent_p.E366E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.E366E|C18orf34_uc002kxp.3_Silent_p.E366E	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	366										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CTTCCTTCTCCTCAATATTAG	0.294000														20			4		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16359691	16359691	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:16359691C>T	uc001axu.3	+	18	2036	c.1956C>T	c.(1954-1956)aaC>aaT	p.N652N	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.N609N|CLCNKA_uc001axv.3_Silent_p.N651N|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	652	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGCTGTTGAACCTTCAGTCCC	0.617000											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		141			96		0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216923647	216923647	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:216923647G>A	uc002vft.3	-	3	552	c.477C>T	c.(475-477)gtC>gtT	p.V159V	PECR_uc010zjq.2_Intron	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	159					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CTTTAGTAGGGACAATGATAT	0.378000														71			20		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59764351	59764351	+	Missense_Mutation	SNP	C	T	T	rs145034555		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:59764351C>T	uc003xtw.1	-	3	646	c.425G>A	c.(424-426)cGa>cAa	p.R142Q		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	142						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCTGGGTTTCGTATATCTGG	0.378000														117			16		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163288	141163288	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:141163288C>T	uc010hup.3	+	1	2108	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	ZBTB38_uc003etw.3_Silent_p.L686L|ZBTB38_uc010hun.3_Silent_p.L683L|ZBTB38_uc010huo.3_Silent_p.L686L|ZBTB38_uc003ety.3_Silent_p.L686L|ZBTB38_uc021xes.1_Silent_p.L686L	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	686					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCTGACCTCCGGGCAGGGG	0.463000														119			67		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941353	13941353	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:13941353G>A	uc002mxh.1	+	12	2648	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q	ZSWIM4_uc010xng.1_Missense_Mutation_p.R743Q	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	820							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCCGCTCCGGGCCTACAAG	0.701000														89			13		0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229636606	229636606	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:229636606G>A	uc001htn.3	-	3	502	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	137					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTGCAAACGGATAACTGTAG	0.408000														19			25		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739621	41739621	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:41739621C>T	uc003thq.3	-	0	587	c.352G>A	c.(352-354)Gag>Aag	p.E118K	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.E118K|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	118					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAGGTCTGCTCCATAAGTTCA	0.527000										TSP Lung(11;0.080)				373			136		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760000	115760000	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:115760000G>A	uc011lwy.2	-	4	1779	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACACTGGTAGGATTTTTCCT	0.398000														84			8		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155643121	155643121	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:155643121C>T	uc003faq.3	+	11	1861	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	GMPS_uc011bom.2_Missense_Mutation_p.A410V	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	509					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCACTGAATGCCTTCTTGCTG	0.403000			T	MLL	AML									53			4		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698054	34698054	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:34698054C>T	uc003teh.1	+	0	158	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F10F|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.F10F|NPSR1_uc003tei.1_Silent_p.F10F|NPSR1_uc010kww.1_Silent_p.F10F|NPSR1_uc011kar.1_Silent_p.F10F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	10						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGGGCAGCTTCGATTCCAGTG	0.572000														76			18		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12491757	12491757	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:12491757G>A	uc002mts.4	-	3	839	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCATGCATACGAAATAAACTG	0.378000														86			19		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698587	138698587	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:138698587C>T	uc011mwn.1	-	11	1486	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	MCF2_uc004fav.3_Missense_Mutation_p.E349K|MCF2_uc004fau.3_Missense_Mutation_p.E349K|MCF2_uc010nsh.2_Missense_Mutation_p.E349K|MCF2_uc011mwm.2_Missense_Mutation_p.E310K|MCF2_uc011mwl.2_Missense_Mutation_p.E310K|MCF2_uc011mwo.1_Missense_Mutation_p.E409K|MCF2_uc004faw.2_Missense_Mutation_p.E409K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	349					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTATCTATTTCCTGATTAGCT	0.323000														79			13		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630155	35630155	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:35630155G>A	uc021rid.1	+	6	1515	c.981G>A	c.(979-981)atG>atA	p.M327I	NBEA_uc021ric.1_Missense_Mutation_p.M327I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	327						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		aGTGGTACATGATCAGCATTG	0.313000														53			14		0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59368785	59368785	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:59368785G>A	uc001noc.1	-	4	1575	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	365					lipid transport	Golgi membrane	oxysterol binding	p.E364E(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCATGGTGATGATCTCAGGTG	0.398000														76			5		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621299	8621299	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:8621299C>T	uc003glm.3	+	10	2088	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.F627F|CPZ_uc003gln.3_Silent_p.F501F	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	638					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTCCTACTTCACATCGCTGA	0.701000														35			7		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681154	169681154	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:169681154G>A	uc002ueg.3	+	2	390	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NOSTRIN_uc002uef.3_Missense_Mutation_p.E42K|NOSTRIN_uc002ueh.3_5'UTR|NOSTRIN_uc010fpu.3_Intron	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	42	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	p.L41L(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGCAAACCTGGAAATTAGCTA	0.468000														79			12		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150077	34150077	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:34150077G>A	uc001zhi.3	+	98	14174	c.14104G>A	c.(14104-14106)Gat>Aat	p.D4702N	RYR3_uc010bar.3_Missense_Mutation_p.D4697N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4702					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCGAAGACGATGACGAGCC	0.587000														74			5		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797304	48797305	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:48797304_48797305CC>TT	uc001zwx.2	-	15	2272_2273	c.1877_1878GG>AA	c.(1876-1878)ggg>gAA	p.G626E		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	626	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACGCAACGCCCATTCATGCA	0.450000														121			37		0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208826	67208826	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:67208826G>A	uc010vjd.2	+	2	781	c.588G>A	c.(586-588)tcG>tcA	p.S196S	NOL3_uc010vjc.2_Missense_Mutation_p.E200K|NOL3_uc002erp.3_Missense_Mutation_p.E200K	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	196					RNA splicing|anti-apoptosis|apoptosis|mRNA processing	cytosol|nucleolus	RNA binding|identical protein binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		gcccgacttcgaGGAAAGGGA	0.667000														49			28		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119047	43119047	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:43119047G>A	uc009vwk.1	+	15	2184	c.2074_splice	c.e15-1	p.E692_splice	CCDC30_uc001chm.2_Splice_Site_p.E390_splice|CCDC30_uc001chn.2_Splice_Site_p.E481_splice	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	692										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCCTTTTAGGAAACAACAAT	0.294000														36			48		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868872	97868872	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:97868872C>T	uc003dsg.1	+	0	643	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGGGACTGTTCTTATATCTTA	0.328000														48			22		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887986	60887986	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:60887986G>A	uc002ycq.3	-	65	9103	c.9036C>T	c.(9034-9036)gtC>gtT	p.V3012V	LAMA5_uc021wfw.1_Silent_p.V3012V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3012	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCAGTGGGACGGCCTTTT	0.657000														42			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495831	179495831	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179495831C>T	uc021vsy.1	-	185	36465	c.36240G>A	c.(36238-36240)ttG>ttA	p.L12080L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.L5775L|TTN_uc021vta.1_Silent_p.L5708L|TTN_uc021vtb.1_Silent_p.L5583L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13007	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTGATTTCAAGGCTTTCT	0.403000														62			8		0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88705577	88705577	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:88705577C>T	uc002fla.3	+	1	244	c.195C>T	c.(193-195)gcC>gcT	p.A65A		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	65					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGCCTGTAGCCCTGGTGTCCA	0.692000														31			13		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764175	133764175	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:133764175G>A	uc003ytn.3	-	3	399	c.170C>T	c.(169-171)tCc>tTc	p.S57F	TMEM71_uc003yto.3_Missense_Mutation_p.S57F	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTATAGTGGGAGCCTGTCAG	0.463000														79			21		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040235	87040235	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:87040235G>A	uc009wcs.3	+	9	1524	c.1480G>A	c.(1480-1482)Gga>Aga	p.G494R	CLCA4_uc009wct.3_Missense_Mutation_p.G257R|CLCA4_uc009wcu.3_Missense_Mutation_p.G314R	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	494						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGAAAGTAAGGGATTAACACT	0.358000														45			37		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372180	126372180	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:126372180A>C	uc003ifj.4	+	8	10009	c.10009A>C	c.(10009-10011)Att>Ctt	p.I3337L	FAT4_uc011cgp.2_Missense_Mutation_p.I1635L|FAT4_uc003ifi.1_Missense_Mutation_p.I815L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3337	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACACTATTTGATTTTTGGTAA	0.398000														121			80		0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214454717	214454717	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:214454717C>T	uc021pix.1	+	0	153	c.120C>T	c.(118-120)gcC>gcT	p.A40A	SMYD2_uc021piw.1_5'UTR|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	40					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CGGCCTATGCCTACGTGCTCA	0.736000														17			11		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51555754	51555754	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:51555754G>A	uc001jiq.3	+	1	59	c.27G>A	c.(25-27)gtG>gtA	p.V9V	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Silent_p.V9V	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	9						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						GCAGCGTTGTGATCTTTGCCA	0.433000														36			11		0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75693664	75693664	+	Missense_Mutation	SNP	C	T	T	rs146302743		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:75693664C>T	uc003ueo.3	+	6	727	c.641C>T	c.(640-642)cCc>cTc	p.P214L	MDH2_uc011kgh.2_Missense_Mutation_p.P172L|MDH2_uc003uep.3_Missense_Mutation_p.P107L	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	214					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding	p.P214L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CAGTGCACCCCCAAGGTGGAC	0.637000														30			10		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298225	123298225	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:123298225C>T	uc021pzz.1	-	5	1276	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	FGFR2_uc021pzv.1_Missense_Mutation_p.R210Q|FGFR2_uc021pzw.1_Missense_Mutation_p.R95Q|FGFR2_uc021pzx.1_Missense_Mutation_p.R121Q|FGFR2_uc021pzy.1_Missense_Mutation_p.R210Q|FGFR2_uc010qtl.2_Missense_Mutation_p.R210Q|FGFR2_uc010qtm.2_Missense_Mutation_p.R95Q|FGFR2_uc021qaa.1_Missense_Mutation_p.R210Q|FGFR2_uc021qab.1_Missense_Mutation_p.R121Q|FGFR2_uc021qac.1_Missense_Mutation_p.R140Q|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.R229Q|FGFR2_uc010qto.2_Missense_Mutation_p.R114Q|FGFR2_uc001lfo.1_Missense_Mutation_p.R229Q|FGFR2_uc010qtp.2_Missense_Mutation_p.R229Q|FGFR2_uc010qtq.2_Missense_Mutation_p.R229Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	210	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.R210Q(2)|p.R121Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGCTGGTTTCGTACCTGAAA	0.423000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					56			34		0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184565	19184565	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:19184565C>T	uc003suo.1	-	0	480	c.421G>A	c.(421-423)Gag>Aag	p.E141K	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	141	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CGGAGGGTCTCGATCCGGGAC	0.572000														68			6		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852412	144852412	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:144852412G>A	uc021ouh.1	-	43	7333	c.7031C>T	c.(7030-7032)tCc>tTc	p.S2344F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_3'UTR|PDE4DIP_uc001elx.4_3'UTR|PDE4DIP_uc001elv.4_3'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1955					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGTTTTAAGGACTTCTGGTG	0.557000			T	PDGFRB	MPD									41			17		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600879	41600879	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:41600879C>T	uc002opt.3	+	7	1186	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	393					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.P393L(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGAAGTGTTCCCTATGCTGGG	0.572000														141			25		0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48733794	48733794	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:48733794G>A	uc010xzj.2	-	6	979	c.936C>T	c.(934-936)tcC>tcT	p.S312S	CARD8_uc002pii.4_Silent_p.S312S|CARD8_uc010xzi.1_Silent_p.S207S|CARD8_uc010els.3_Silent_p.S245S|CARD8_uc010xzk.2_Silent_p.S231S|CARD8_uc002pie.4_Silent_p.S206S|CARD8_uc002pif.4_Silent_p.S206S|CARD8_uc021uwq.1_Silent_p.S206S|CARD8_uc021uwr.1_Silent_p.S206S|CARD8_uc002pig.4_Silent_p.S37S|CARD8_uc002pih.4_Silent_p.S262S|CARD8_uc010xzl.2_Silent_p.S262S|CARD8_uc010xzm.2_Silent_p.S312S	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	206					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TGATGGGGATGGAGAGGCGAG	0.552000														96			18		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26084282	26084282	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:26084282G>A	uc002gzu.3	-	26	3716	c.3452C>T	c.(3451-3453)tCa>tTa	p.S1151L		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	1151					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCAGAGCGCTGACATCTCCAG	0.562000											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			10		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31147108	31147108	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:31147108G>A	uc002rns.3	-	13	1912	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	GALNT14_uc002rnq.3_Silent_p.I399I|GALNT14_uc010ymr.2_Silent_p.I384I|GALNT14_uc002rnr.3_Silent_p.I419I|GALNT14_uc010ezo.2_Silent_p.I386I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	419	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I419I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTTCTGGATGGAGGACT	0.537000														129			42		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557173	38557173	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:38557173G>A	uc002huq.3	-	20	2752	c.2593C>T	c.(2593-2595)Ccc>Tcc	p.P865S	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	865					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCAAAGTTGGGGATTTTGCAG	0.438000														266			111		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667173	72667173	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:72667173G>A	uc011mqk.2	+	0	84	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCACAGCTGGGACAGGCGGCA	0.602000														56			11		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797279	57797279	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:57797279C>T	uc003hch.3	+	3	2602	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	REST_uc003hci.3_Missense_Mutation_p.P752L|REST_uc010ihf.3_Missense_Mutation_p.P426L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	752	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding	p.P752T(2)|p.P752P(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGTCTCCTCCCATGGAGGTG	0.557000														616			99		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879265	144879265	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:144879265G>A	uc021ouh.1	-	26	4487	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.P1395P|PDE4DIP_uc001elx.4_Silent_p.P1351P|PDE4DIP_uc001elv.4_Silent_p.P402P	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1395					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCAGCTTCCAGGGTCTTTCCA	0.537000			T	PDGFRB	MPD									188			93		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936761	151936761	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:151936761G>A	uc003qol.3	+	9	1983	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	632																	GGTAACCAGTGAAATGAAGAC	0.403000														99			49		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44926878	44926878	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:44926878G>A	uc003coc.4	+	1	154	c.81G>A	c.(79-81)tgG>tgA	p.W27*	TGM4_uc003coa.2_Nonsense_Mutation_p.W27*|TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	27					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACCACACATGGGAGTTCCAAA	0.537000														49			22		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449483	104449483	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:104449483C>T	uc004bbp.2	-	2	1301	c.700_splice	c.e2-1	p.N234_splice	GRIN3A_uc004bbq.1_Splice_Site_p.N234_splice	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	234					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAAGGGGATTCTGTATTTAAA	0.338000														71			25		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793014	102793014	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:102793014C>T	uc002tbq.3	+	11	1823	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	IL1R1_uc010fix.3_Missense_Mutation_p.S471L|IL1R1_uc002tbr.3_Missense_Mutation_p.S502L	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	502	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	p.S502L(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATGCCAGAATCGATTAAATTC	0.433000														46			21		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805430	24805430	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:24805430G>A	uc001wpb.3	-	9	1718	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P303L|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P282L	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	503					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCAGGCTTCAGGATCTTTAGG	0.562000														85			35		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455421	84455421	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:84455421G>A	uc001vlk.3	-	0	1108	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	74						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACTCATTAGGGAAAAGTCGAG	0.463000														121			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485285	179485285	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179485285G>A	uc021vsy.1	-	196	38484	c.38259C>T	c.(38257-38259)ttC>ttT	p.F12753F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F6448F|TTN_uc021vta.1_Silent_p.F6381F|TTN_uc021vtb.1_Silent_p.F6256F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13680							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGCACCAGAATGTGACAG	0.373000														76			10		0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112589821	112589821	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:112589821G>A	uc001ttp.3	+	9	1582	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	TRAFD1_uc001tto.3_Missense_Mutation_p.R499Q	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	499					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGCGGAATCGAGACAGCCAG	0.582000														167			132		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042039	73042039	+	RNA	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:73042039C>T	uc004ebn.2	+	0		c.30000C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGTCATTTTTCATGAGGGATG	0.468000														33			14		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994619	140994619	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:140994619C>T	uc004fbt.3	+	3	1753	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P136S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	477							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGTCTCCTCTCCAGAT	0.473000										HNSCC(15;0.026)				353			51		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090789	143090789	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:143090789G>T	uc003qjd.3	-	4	5830	c.5087C>A	c.(5086-5088)tCc>tAc	p.S1696Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTTTGCTTGGACCTCAGAAG	0.463000														124			41		6.33695e-27	6.40985e-27	1	1	0
DOCK8	81704	broad.mit.edu	37	9	399219	399220	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:399219_399220GG>AA	uc003zgf.2	+	25	3306_3307	c.3194_3195GG>AA	c.(3193-3195)cgg>cAA	p.R1065Q	DOCK8_uc022bcu.1_Missense_Mutation_p.R997Q|DOCK8_uc010mgv.3_Missense_Mutation_p.R965Q|DOCK8_uc010mgu.3_Missense_Mutation_p.R367Q|DOCK8_uc010mgw.2_Missense_Mutation_p.R367Q|DOCK8_uc003zgk.2_Missense_Mutation_p.R523Q	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1065					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTCATGGATCGGGGCTTTGTGT	0.480000														73			12		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2613201	2613202	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:2613201_2613202GG>AA	uc003bpc.3	+	3	353_354	c.14_15GG>AA	c.(13-15)tgg>tAA	p.W5*	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Nonsense_Mutation_p.W5*|CNTN4_uc003bpd.1_Nonsense_Mutation_p.W5*	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	5					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGGTTGCCATGGGAACTGCTGG	0.366000														53			20		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18806753	18806753	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:18806753C>T	uc003sui.3	+	14	2230	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	HDAC9_uc003sue.3_Missense_Mutation_p.S727F|HDAC9_uc011jyd.2_Missense_Mutation_p.S727F|HDAC9_uc003suh.3_Missense_Mutation_p.S727F|HDAC9_uc003suj.3_Missense_Mutation_p.S686F|HDAC9_uc003sua.1_Missense_Mutation_p.S705F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	727	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)	AAGTTTTTTTCCTCATTACCT	0.264000														15			4		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78359585	78359585	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:78359585C>T	uc003kfs.3	-	1	133	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DMGDH_uc011ctf.1_5'UTR|DMGDH_uc011ctg.1_5'UTR	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	43					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATTGTGTTTCTGCAGATAAG	0.458000														81			12		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001640	90001640	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:90001640C>T	uc002fpf.2	+	4	2230	c.1822C>T	c.(1822-1824)Ccg>Tcg	p.P608S	TUBB3_uc010ciz.1_Missense_Mutation_p.P189S|TUBB3_uc002fph.2_Missense_Mutation_p.P261S|TUBB3_uc002fpj.1_Missense_Mutation_p.P189S|TUBB3_uc002fpk.1_Missense_Mutation_p.P115S	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	261					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGTGCCCTTCCCGCGCCTGCA	0.677000														67			13		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111865791	111865791	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:111865791C>T	uc001pml.3	+	15	1780	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	DIXDC1_uc001pmm.3_Missense_Mutation_p.P284S|DIXDC1_uc001pmn.3_Missense_Mutation_p.P202S|DIXDC1_uc010rwq.2_Missense_Mutation_p.P161S	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	496					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TTTTCTCCTTCCAACGGCAGG	0.468000														286			37		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171554388	171554388	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:171554388G>A	uc003mbo.1	-	2	659	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	120	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCATGATGGCGTCCACGGC	0.562000														33			5		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815664	106815664	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:106815664G>A	uc003ymd.3	+	7	3377	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	ZFPM2_uc011lhs.2_Silent_p.G849G	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1118					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCAGTGGGAAATATTGCC	0.428000														34			14		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649928	57649928	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:57649928G>A	uc002qnz.1	-	2	440	c.54C>T	c.(52-54)acC>acT	p.T18T		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCCCCCTGGGTGAAGTTCA	0.502000														99			32		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744403	17744403	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:17744403T>C	uc011mix.2	+	6	2515	c.2177T>C	c.(2176-2178)cTa>cCa	p.L726P	NHS_uc004cxx.3_Missense_Mutation_p.L705P|NHS_uc004cxy.3_Missense_Mutation_p.L549P|NHS_uc004cxz.3_Missense_Mutation_p.L528P|NHS_uc004cya.3_Missense_Mutation_p.L428P	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	705						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGGAATTACCTACACCACCAC	0.537000														215			21		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60073552	60073552	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:60073552T>A	uc009wac.3	+	8	1193	c.981T>A	c.(979-981)aaT>aaA	p.N327K	FGGY_uc001czg.2_Missense_Mutation_p.N215K|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.N327K|FGGY_uc001czl.4_Missense_Mutation_p.N239K|FGGY_uc001czm.4_Missense_Mutation_p.N28K	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	327					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCTGGCTGAATGAAGGTGGTC	0.423000														45			32		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485349	14485349	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:14485349C>T	uc010heg.3	+	2	506	c.207C>T	c.(205-207)taC>taT	p.Y69Y	SLC6A6_uc010hee.1_Silent_p.Y69Y|SLC6A6_uc003byp.3_Silent_p.Y69Y|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.Y69Y|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	69					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GCTTCCCGTACCTCTGCTACA	0.612000														74			18		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14958785	14958785	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:14958785C>T	uc003bzc.3	+	11	3545	c.3435C>T	c.(3433-3435)ccC>ccT	p.P1145P	FGD5_uc011avk.2_Silent_p.P1145P|FGD5_uc003bzd.3_Silent_p.P223P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1145	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACACCTATCCCCAGAAGGATG	0.567000														33			4		0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93528227	93528228	+	Splice_Site	DNP	GT	AA	AA			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:93528227_93528228GT>AA	uc001pem.4	+	6	1287	c.1012_splice	c.e6+1	p.S338_splice		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	338					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCTTTCCGAGTAAGAGCAGCC	0.431000														267			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140189074	140189074	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140189074G>A	uc003lhi.2	+	0	2403	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.D768N|PCDHAC2_uc011daa.2_Missense_Mutation_p.D768N	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	805					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAAGACCGACCTCATGGC	0.582000														115			21		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110815834	110815834	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr13:110815834C>T	uc001vqw.4	-	46	4347	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1409	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGTCCCATCTCTCCTTTCTGG	0.522000														54			6		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661532	39661532	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:39661532C>T	uc002hwu.1	-	0	334	c.271G>A	c.(271-273)Gac>Aac	p.D91N	KRT13_uc002hwv.1_Missense_Mutation_p.D91N|KRT13_uc010wfr.2_Intron|KRT13_uc010cxo.3_Missense_Mutation_p.D91N|KRT13_uc021txk.1_5'UTR	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	91	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				gcaccaaagtcaacaaagcca	0.582000														64			10		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528364	149528364	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:149528364C>T	uc010zbt.2	+	8	1261	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	412					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTTGCAGCCTCGTTTGGACCA	0.358000														40			24		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3235706C>T	uc004crg.4	-	5	6173	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2006	Ig-like C2-type 4.					extracellular region		p.H2005H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000														53			13		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77934677	77934677	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:77934677C>A	uc001ozh.3	-	5	1450	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	GAB2_uc001ozg.3_Missense_Mutation_p.D412Y	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	450					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			ACATAGTTGTCTTCAGAATTG	0.502000														561			53		9.59835e-30	9.72474e-30	1	1	0
MYH7	4625	broad.mit.edu	37	14	23887475	23887475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:23887475C>T	uc001wjx.3	-	29	4219	c.4113G>A	c.(4111-4113)tgG>tgA	p.W1371*	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1371					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTTGGTCCTCCACTGGGCCA	0.627000														133			14		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481590	35481590	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:35481590C>T	uc003anj.3	+	3	1593	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P213T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CACAGCCTGTCCCAGGTCTTC	0.567000														137			52		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725946	140725946	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:140725946G>A	uc003ljm.2	+	0	2346	c.2346G>A	c.(2344-2346)caG>caA	p.Q782Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.Q782Q	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	792					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCAGCCAGGAGAGCTGTG	0.493000														174			36		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:71101260C>T	uc002ezr.3	-	14	2159	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_uc010cfz.2_Missense_Mutation_p.E415K|HYDIN_uc021tkq.1_Missense_Mutation_p.E670K|HYDIN_uc010vmc.2_Missense_Mutation_p.E687K|HYDIN_uc010vmd.2_Missense_Mutation_p.E697K|HYDIN_uc002ezw.4_Missense_Mutation_p.E687K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	670										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)				AGTGCCAGCTCGTATTTCTGC	0.527000														62			13		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353240	45353240	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:45353240C>T	uc003jok.3	-	4	1364	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	447						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGAATATTTTCCTCATCAAAG	0.343000														57			9		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330509	75330509	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:75330509G>A	uc021rwo.1	-	0	29	c.29C>T	c.(28-30)cCt>cTt	p.P10L	PROX2_uc001xqp.2_Missense_Mutation_p.P10L|PROX2_uc001xqq.2_Missense_Mutation_p.P10L	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	10					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTGGGGCTGAGGAGAAAGCAA	0.547000														48			24		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609425	105609425	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:105609425C>T	uc003prb.3	-	1	762	c.360G>A	c.(358-360)ggG>ggA	p.G120G	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	120						integral to membrane		p.L119L(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GCAAAGAGATCCCCAGGGGCT	0.443000														209			30		0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078148	46078148	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:46078148C>T	uc002zft.3	+	0	300	c.252C>T	c.(250-252)ctC>ctT	p.L84L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	84	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCACTGCCCTCTGCAGACCCA	0.617000														88			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595650	179595650	+	Splice_Site	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:179595650A>G	uc021vsy.1	-	57	14233	c.14008_splice	c.e57+1	p.D4670_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.D1331_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5597	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAATACCAACCTAATACAT	0.338000														271			61		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137779204	137779204	+	Silent	SNP	G	A	A	rs150154280	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr9:137779204G>A	uc004cfg.1	+	7	895	c.885G>A	c.(883-885)tcG>tcA	p.S295S	FCN2_uc004cfh.1_Silent_p.S257S	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	295	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTGGAAGTCGGGGAAAGGAT	0.537000														69			27		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153690570	153690570	+	Missense_Mutation	SNP	G	A	A	rs36115591	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:153690570G>A	uc004flm.3	+	3	1410	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	413	Sema.		G -> S (in dbSNP:rs36115591).		axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.G413D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCACCGACGGCATGGCCAG	0.652000														90			14		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600626	31600626	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:31600626T>G	uc002wyj.3	+	3	415	c.221T>G	c.(220-222)gTc>gGc	p.V74G		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	74						extracellular region	lipid binding										ATTCTGAATGTCCATGTGCCC	0.537000														214			70		0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452419	64452419	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:64452419G>A	uc011kdr.2	-	1	1580	c.986C>T	c.(985-987)tCa>tTa	p.S329L	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.S329L	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	329						virion		p.S329*(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gctctgacttgatggtgcagg	0.478000														80			16		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417689	40417690	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:40417689_40417690CC>GT	uc003ayk.1	+	3	1269_1270	c.1175_1176CC>GT	c.(1174-1176)ccc>cGT	p.P392R		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	392										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GAGCCCATCCCCTTGGGAGAGC	0.649000														31			12		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601986	135601986	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:135601986C>T	uc003lbn.2	-	4	1489	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	TRPC7_uc010jef.2_Missense_Mutation_p.D359N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.D362N|TRPC7_uc010jei.2_Missense_Mutation_p.D307N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	423					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGGGTAGTCTGTGAAGGTT	0.393000														113			21		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053265	238053265	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:238053265G>A	uc001hym.3	-	2	589	c.302C>T	c.(301-303)tCc>tTc	p.S101F	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	101					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATGTAGTGGGAGTCCTGGAG	0.557000														196			89		0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036556	13036556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:13036556C>T	uc009vnq.1	+	1	628	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	210										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						AGACAGTATCCAAGTGTTGGA	0.413000														236			12		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559889	41559889	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:41559889G>A	uc002yyq.1	-	12	3031	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	860	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAGAAACCAGAATCTTCTCT	0.403000														63			12		0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67877153	67877153	+	Silent	SNP	A	G	G			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:67877153A>G	uc002euo.3	+	0	941	c.696A>G	c.(694-696)gtA>gtG	p.V232V	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGTGGTGGTAGGGGAAGAGG	0.667000														165			73		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89209516	89209516	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:89209516C>T	uc003yeb.4	-	1	434	c.152G>A	c.(151-153)gGc>gAc	p.G51D		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	51					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G51C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGGAAGGTAGCCGTACTTTTG	0.398000														72			6		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127808387	127808387	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:127808387G>A	uc002tns.2	-	16	1947	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	BIN1_uc010yzf.2_Silent_p.F313F|BIN1_uc002tnt.2_Silent_p.F337F|BIN1_uc010yzg.2_Silent_p.F398F|BIN1_uc002tnu.2_Silent_p.F352F|BIN1_uc002tnv.2_Silent_p.F478F|BIN1_uc002tnw.2_Silent_p.F425F|BIN1_uc002tnx.2_Silent_p.F382F|BIN1_uc002tny.2_Silent_p.F434F|BIN1_uc002tnz.2_Silent_p.F446F|BIN1_uc002toa.2_Silent_p.F410F|BIN1_uc002tob.2_Silent_p.F367F|BIN1_uc002toc.2_Silent_p.F403F	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	521	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTTGAACATGAAACCTGGGG	0.632000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		143			19		0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959787	117959787	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:117959787G>A	uc004equ.3	+	3	1053	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ZCCHC12_uc022cdh.1_Missense_Mutation_p.D194N	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CAGACTTAAGGATTTTCTCAG	0.483000														163			17		0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158314672	158314672	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:158314672C>T	uc003fcc.3	+	4	673	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	MLF1_uc003fbx.3_Nonsense_Mutation_p.Q63*|MLF1_uc003fbz.3_Nonsense_Mutation_p.Q48*|MLF1_uc003fca.3_Nonsense_Mutation_p.Q48*|MLF1_uc003fcb.3_Nonsense_Mutation_p.Q73*|MLF1_uc010hvx.3_Nonsense_Mutation_p.Q48*|MLF1_uc003fby.3_5'UTR	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	73	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CAGCTCTTTCCAGACAATGGA	0.328000			T	NPM1	AML									20			9		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710294	52710294	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:52710294C>T	uc001saf.2	-	5	1062	c.999G>A	c.(997-999)atG>atA	p.M333I		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	333	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATGCGGTTCA	0.612000														78			15		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241983	87241983	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:87241983G>A	uc003ydq.1	-	0	622	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SLC7A13_uc003ydr.1_Missense_Mutation_p.S175F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	175						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAGTTAGGGAAATGAAGCT	0.408000														129			37		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113387	94113387	+	Silent	SNP	G	A	A	rs141761818	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:94113387G>A	uc001pet.2	-	3	1372	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	400						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTGGGCAGGAGGTTATTGG	0.582000														43			44		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120740002	120740002	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:120740002C>T	uc003vjq.4	+	6	1219	c.772C>T	c.(772-774)Cca>Tca	p.P258S	C7orf58_uc003vjr.1_Missense_Mutation_p.P258S|C7orf58_uc003vjs.4_Missense_Mutation_p.P258S|C7orf58_uc003vjt.4_Missense_Mutation_p.P38S|C7orf58_uc010lkk.2_Missense_Mutation_p.P38S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	258						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGTCCTTGCTCCACATGAAAC	0.378000														104			12		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20129301	20129301	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:20129301C>T	uc010rdm.2	+	37	7462	c.7101C>T	c.(7099-7101)ctC>ctT	p.L2367L	NAV2_uc001mpp.3_Silent_p.L2247L|NAV2_uc001mpr.4_Silent_p.L2311L|NAV2_uc021qew.1_Silent_p.L2314L|NAV2_uc009yhx.3_Silent_p.L1375L|NAV2_uc009yhz.3_Silent_p.L956L|NAV2_uc001mpu.3_Silent_p.L749L|NAV2_uc001mpv.3_Silent_p.L73L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2370						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCTATCTCCTGGAAGCCG	0.557000														247			50		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688795	8688795	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:8688795G>A	uc001quo.1	-	4	544	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	127	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTGTAGGAAAGGAATTCCTAT	0.368000														65			12		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932388	79932388	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:79932388C>T	uc004edt.3	-	40	5392	c.5129G>A	c.(5128-5130)gGg>gAg	p.G1710E	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.G1539E|BRWD3_uc004edq.3_Missense_Mutation_p.G1306E|BRWD3_uc010nmj.2_Missense_Mutation_p.G1306E|BRWD3_uc004edr.3_Missense_Mutation_p.G1380E|BRWD3_uc004eds.3_Missense_Mutation_p.G1306E|BRWD3_uc004edo.3_Missense_Mutation_p.G1306E|BRWD3_uc004edu.3_Missense_Mutation_p.G1380E|BRWD3_uc004edv.3_Missense_Mutation_p.G1306E|BRWD3_uc004edw.3_Missense_Mutation_p.G1306E|BRWD3_uc004edx.3_Missense_Mutation_p.G1306E|BRWD3_uc004edy.3_Missense_Mutation_p.G1306E|BRWD3_uc004edz.3_Missense_Mutation_p.G1380E|BRWD3_uc004eea.3_Missense_Mutation_p.G1380E|BRWD3_uc004eeb.3_Missense_Mutation_p.G1306E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1710	Gly-rich.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						tcctcctctccctcttcccct	0.542000														80			15		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505313	155505313	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:155505313G>A	uc003iod.1	-	5	2622	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	855	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGCGAACAGCCCTGAGGGA	0.478000														165			21		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7832450	7832450	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:7832450G>A	uc010dvt.3	+	5	1103	c.985G>A	c.(985-987)Gga>Aga	p.G329R	CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.G306R|CLEC4M_uc010xjw.2_Missense_Mutation_p.G262R|CLEC4M_uc010dvs.3_Missense_Mutation_p.G305R|CLEC4M_uc010xjx.2_Missense_Mutation_p.G278R|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Missense_Mutation_p.G193R	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	329	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CTCCTGGATGGGACTTTCAGA	0.547000														88			12		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159035459	159035459	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:159035459C>T	uc002tzq.3	-	11	1734	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CCDC148_uc002tzr.3_Missense_Mutation_p.E322K|CCDC148_uc010foh.3_Missense_Mutation_p.E187K|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	474										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGCCACTTCCTTTTTCTCC	0.388000														75			28		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410923	130410923	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:130410923G>A	uc004ewe.4	-	13	2896	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	IGSF1_uc004ewd.3_Silent_p.L866L|IGSF1_uc022cdv.1_Silent_p.L857L|IGSF1_uc004ewf.2_Silent_p.L846L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	866					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGTCACCACGAGCTCCACAG	0.527000														186			61		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713849	70713849	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:70713849C>T	uc010ttg.2	-	0	670	c.19G>A	c.(19-21)Gag>Aag	p.E7K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACTTCCTTCTCTGTTAAGCTA	0.438000														73			21		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246510	216246510	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:216246510C>T	uc001hku.1	-	27	6092	c.5705G>A	c.(5704-5706)gGa>gAa	p.G1902E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1902	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGTCATTTCCCCTGCAGTT	0.488000										HNSCC(13;0.011)				38			34		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459728	107459728	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:107459728C>T	uc002tdq.3	-	1	825	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	ST6GAL2_uc002tdr.3_Missense_Mutation_p.V236M|ST6GAL2_uc002tds.3_Missense_Mutation_p.V236M	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	236					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G235V(1)|p.G235W(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGAAGCGCACCCCGTGCTTG	0.677000														15			3		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140246635	140246635	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:140246635G>A	uc010lnk.3	-	12	2662	c.2142C>T	c.(2140-2142)atC>atT	p.I714I	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.I714I|DENND2A_uc003vvw.3_Silent_p.I714I|DENND2A_uc003vvx.3_Silent_p.I714I	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	714	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTTGACAAGGATGGTTTTGC	0.562000														66			27		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680810	128680810	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:128680810G>A	uc010sbu.2	+	8	1629	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	FLI1_uc010sbt.2_Missense_Mutation_p.G236E|FLI1_uc010sbv.2_Missense_Mutation_p.G396E|FLI1_uc009zci.3_Missense_Mutation_p.G363E	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	429					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G429R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCACGGGGGGAATCTACCCC	0.562000			T	EWSR1	Ewing sarcoma									141			7		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123787498	123787498	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:123787498G>A	uc010nqy.3	-	6	1368	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F	ODZ1_uc011muj.2_Missense_Mutation_p.S434F|ODZ1_uc004euj.3_Missense_Mutation_p.S435F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	435					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTTGGCTAAAGAAATATTGAA	0.388000														175			71		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996058	57996058	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:57996058G>A	uc010rkd.2	-	0	333	c.290C>T	c.(289-291)tCg>tTg	p.S97L		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCAGCCAACGAAATGGGCTT	0.522000														69			10		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749080	51749081	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:51749080_51749081CC>TT	uc010hlv.3	+	3	1530_1531	c.1291_1292CC>TT	c.(1291-1293)ccc>TTc	p.P431F	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	431					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CATCCTAGCCCCCTTTCGCCCA	0.540000														71			14		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746238	15746238	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:15746238G>A	uc002yjt.3	-	4	1185	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	HSPA13_uc011abx.2_Silent_p.T164T	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	372						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTTCATTAAGGGTATCAAAGA	0.403000														155			52		0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43694597	43694597	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:43694597C>T	uc001jao.1	-	7	1004	c.919G>A	c.(919-921)Gat>Aat	p.D307N	RASGEF1A_uc001jap.1_Missense_Mutation_p.D299N	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	299	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CGGGCCACATCAATGAAGAAC	0.602000														20			17		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45706869	45706869	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:45706869C>T	uc001zve.3	+	3	1644	c.1535C>T	c.(1534-1536)aCc>aTc	p.T512I	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	512						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGTGCTAAAACCACTCTGGTG	0.498000														84			20		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166735	100166735	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:100166735C>T	uc001tge.2	-	7	1510	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.E331K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	365						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGTTCTTCCTCTGAAATCTTG	0.393000														49			23		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49207395	49207395	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:49207395G>A	uc001ngy.3	-	5	913	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	FOLH1_uc009yly.3_Nonsense_Mutation_p.Q203*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.Q203*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.Q218*|FOLH1_uc009yma.3_Intron	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	218					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTGCCAGCTGGGCATTTTTA	0.423000														57			12		0	0	1	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277738	156277738	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:156277738C>T	uc003lwf.1	+	0	190	c.165C>T	c.(163-165)acC>acT	p.T55T						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		TCTTGGCGACCTATCATCCAG	0.488000														32			6		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932625	32932625	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:32932625C>T	uc003cff.3	+	3	1992	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	643					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCACAAATTCGGCACCCTGG	0.632000														58			9		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831120	86831120	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:86831120A>T	uc002srn.3	-	3	2895	c.1904T>A	c.(1903-1905)aTg>aAg	p.M635K	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.M496K|RNF103_uc021vkg.1_Missense_Mutation_p.M631K|BC066991_uc002sro.3_5'Flank	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	635					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AGGCAACCCCATTAGCAAACA	0.448000														220			55		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71077943	71077943	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:71077943C>T	uc001swi.2	-	9	1875	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	PTPRR_uc001swh.2_Silent_p.V242V|PTPRR_uc009zrs.3_Silent_p.V281V|PTPRR_uc010stq.2_Silent_p.V375V|PTPRR_uc010str.1_Silent_p.V336V	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	487	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCATAACAATCACAGGGCTGT	0.423000														77			23		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541229	178541229	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:178541229G>A	uc003mjw.3	-	21	3377	c.3275C>T	c.(3274-3276)tCc>tTc	p.S1092F		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1092	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K1091R(1)		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)		CAGGTTACAGGACTTGCAGCA	0.542000														40			13		0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967504	54967504	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:54967504C>T	uc002ehv.3	+	2	1171	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	IRX5_uc021tin.1_Missense_Mutation_p.P390S|IRX5_uc002ehw.3_Missense_Mutation_p.P325S	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	391					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.P391L(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCGCAGTGTCCTTTTCCAGG	0.692000														23			14		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72541687	72541687	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr10:72541687G>A	uc010qjm.1	-	3	537	c.147C>T	c.(145-147)ttC>ttT	p.F49F	C10orf27_uc001jrj.1_Silent_p.F49F|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.F49F|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Silent_p.F38F|C10orf27_uc009xqj.1_Silent_p.F38F|C10orf27_uc010qjp.1_Silent_p.F38F	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	49					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						GGATCCGCTCGAAATCCACAA	0.602000														63			37		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834288	125834288	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:125834288C>T	uc001uhe.1	+	1	351	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	TMEM132B_uc021rgl.1_Missense_Mutation_p.P5S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	115						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGACAAATTTCCCTTCAACTG	0.468000														126			90		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166758373	166758373	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:166758373C>T	uc002udk.3	-	19	2749	c.2616G>A	c.(2614-2616)caG>caA	p.Q872Q		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	872						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTGCATCTGGCTGTTCCATCT	0.358000														80			20		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533060	169533060	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:169533060G>A	uc003mai.4	+	0	144	c.99G>A	c.(97-99)gaG>gaA	p.E33E	FOXI1_uc003maj.4_Silent_p.E33E	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	33	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	p.E33D(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTACTATGAGAACTTCTTCC	0.677000									Pendred syndrome					36			8		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154895	5154895	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:5154895G>A	uc001qni.3	+	0	1811	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	528						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCGGGAAACGGATCACGAGGA	0.642000														62			38		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130851631	130851631	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:130851631G>A	uc003eny.3	+	5	824	c.498G>A	c.(496-498)ctG>ctA	p.L166L	NEK11_uc003enx.3_Silent_p.L166L|NEK11_uc003eoa.3_Silent_p.L166L|NEK11_uc003enz.3_5'UTR|NEK11_uc011blk.2_Silent_p.L18L|NEK11_uc011bll.2_Silent_p.L166L|NEK11_uc003enw.1_Silent_p.L166L|NEK11_uc011blm.2_Silent_p.L166L|NEK11_uc010hto.2_Silent_p.L18L	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	166	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATGTATTTCTGAAAAATAATC	0.269000														15			7		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869643	151869643	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:151869643G>A	uc022chf.1	+	0	333	c.333G>A	c.(331-333)agG>agA	p.R111R	MAGEA6_uc004ffq.1_Silent_p.R111R|MAGEA6_uc004ffr.1_Silent_p.R111R	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	111	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCAGTAGGAAGGTGGCCA	0.547000														204			31		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37907434	37907434	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:37907434G>A	uc003tfn.3	+	10	1124	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	251	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCTAACGAACGATCTGAGGAT	0.443000														63			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075684	9075684	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:9075684G>A	uc002mkp.3	-	2	11966	c.11762C>T	c.(11761-11763)tCc>tTc	p.S3921F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3922	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAACTTGGGGATGAAGTCGT	0.473000														31			3		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081964	104081964	+	Missense_Mutation	SNP	G	A	A	rs144650963	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:104081964G>A	uc001tjw.3	+	27	3202	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1006	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTTCTCTCCGAAGCAGCTAT	0.373000														74			67		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402065	9402065	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:9402065G>A	uc021wam.1	+	22	2255	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	PLCB4_uc010gbw.1_Missense_Mutation_p.G747E|PLCB4_uc010gbx.3_Missense_Mutation_p.G759E|PLCB4_uc021wal.1_Missense_Mutation_p.G747E|PLCB4_uc002wnh.3_Missense_Mutation_p.G594E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	747	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGAATAATGGACTCAATCCA	0.403000														100			12		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424511	110424511	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:110424511G>A	uc003yne.3	+	19	2207	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	701					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAACAGAGGGCAGAAGACAG	0.413000										HNSCC(38;0.096)				49			22		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131888140	131888140	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:131888140C>T	uc003vra.4	-	10	2566	c.2337G>A	c.(2335-2337)gtG>gtA	p.V779V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	779						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGTCAACTCCACGGGCAGGT	0.557000														77			89		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316860	94316860	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:94316860G>A	uc011cdt.2	+	9	1605	c.1347_splice	c.e9+1	p.L449_splice	GRID2_uc011cdu.2_Splice_Site_p.L354_splice	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	449					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AACTGTTCTGGTAAGTATTAT	0.373000														94			12		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47944165	47944165	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:47944165C>T	uc003gxu.3	-	8	798	c.657_splice	c.e8-1	p.E219_splice	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Splice_Site_p.E150_splice	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	150					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTTTCTTCTCCCTAGCGGCAA	0.363000														76			14		0	0	1	0	0
RIBC1	158787	broad.mit.edu	37	X	53455434	53455434	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:53455434G>A	uc004dsk.3	+	4	607	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	RIBC1_uc004dsj.1_Missense_Mutation_p.G135S|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	135										lung(2)	2						TACCTATCCTGGTCCAGCCAG	0.522000														26			5		0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472789	58472789	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:58472789C>T	uc002qqv.3	-	4	604	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	168						integral to membrane		p.E168K(2)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		AGCTCATTTTCGTTCTCTGGA	0.488000														80			23		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906348	5906348	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:5906348C>T	uc010qzs.2	+	0	826	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCCATATTCTTTTGGCTAA	0.408000														89			44		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362289	101362289	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:101362289T>A	uc001pgk.4	-	2	1551	c.1126A>T	c.(1126-1128)Aaa>Taa	p.K376*	TRPC6_uc009ywy.3_Intron|TRPC6_uc009ywz.1_Nonsense_Mutation_p.K376*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	376					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.K375R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GACCTTACTTTTTTTACTTCA	0.408000														123			146		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169337870	169337870	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:169337870G>A	uc021xuh.1	-	18	2799	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DDX60L_uc003irq.4_Missense_Mutation_p.L897F|DDX60L_uc003irr.1_Missense_Mutation_p.L897F|DDX60L_uc003irs.1_Missense_Mutation_p.L592F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	897	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTAGCTGAAAGAACCAAAAAG	0.348000														86			12		0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19617251	19617251	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:19617251C>T	uc002gwe.4	-	3	505	c.330G>A	c.(328-330)gtG>gtA	p.V110V	SLC47A2_uc002gwg.4_Silent_p.V110V|SLC47A2_uc002gwf.4_Silent_p.V110V|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	110						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCTGCAGGATCACGCCCACGT	0.662000														46			22		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752127	141752127	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:141752127G>A	uc003vwy.3	+	24	2893	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	947					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCTCCTGGGAGAAGCATA	0.418000														12			10		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133622720	133622720	+	Missense_Mutation	SNP	C	T	T	rs146653246		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:133622720C>T	uc003vrk.3	+	13	2139	c.2104C>T	c.(2104-2106)Cgt>Tgt	p.R702C	EXOC4_uc011kpo.2_Missense_Mutation_p.R601C|EXOC4_uc003vrl.3_Missense_Mutation_p.R312C|EXOC4_uc011kpp.2_Missense_Mutation_p.R234C|EXOC4_uc011kpq.2_5'UTR	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	702					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGACATCCTTCGTGACGTCAG	0.458000														257			29		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622698	20622698	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:20622698G>A	uc001mqd.3	+	1	300	c.27G>A	c.(25-27)atG>atA	p.M9I	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	9					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCAAGGAAATGAATAAACTGC	0.567000														10			6		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44589982	44589982	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:44589982C>T	uc002oyg.1	+	4	567	c.351C>T	c.(349-351)tcC>tcT	p.S117S	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTCAAGACTCCATAAGTAGCT	0.478000														69			11		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48744926	48744926	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:48744926G>A	uc002isl.3	+	11	1523	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	ABCC3_uc002isk.4_Missense_Mutation_p.M481I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	481	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TAAAGCAAATGAAATTGAAGG	0.552000														50			14		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113764226	113764226	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:113764226G>A	uc010yxr.2	+	2	176	c.176G>A	c.(175-177)aGa>aAa	p.R59K		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	59					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GAGAAAGACAGAGGGAACCCC	0.527000														292			96		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45540978	45540978	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr21:45540978C>T	uc002zeb.3	+	12	1721	c.1631C>T	c.(1630-1632)tCt>tTt	p.S544F		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	544						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCCCTGACCTCTGATGGTGAG	0.612000														27			13		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99696946	99696946	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:99696946G>A	uc003usw.1	-	3	867	c.357C>T	c.(355-357)gtC>gtT	p.V119V	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.4_5'Flank|AP4M1_uc003utd.3_5'Flank|AP4M1_uc011kjh.2_5'Flank|AP4M1_uc003ute.4_5'Flank|AP4M1_uc003utf.4_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	119					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GGGGGCTTCGGACCATCCCAG	0.498000														215			31		0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28857331	28857331	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:28857331G>A	uc002drh.2	-	1	288	c.149C>T	c.(148-150)gCc>gTc	p.A50V	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	47						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AGTCTTCTTGGCCTCCACGGC	0.637000														54			13		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628026	19628026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:19628026C>T	uc002dgn.2	+	13	1435	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	C16orf62_uc002dgo.2_Intron|C16orf62_uc002dgp.2_Nonsense_Mutation_p.Q123*|C16orf62_uc002dgm.2_Nonsense_Mutation_p.Q463*	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	374						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGATACGGTCCAGAACCAGCT	0.512000														57			12		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051985	132051985	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:132051985G>A	uc003ytd.4	-	0	851	c.595C>T	c.(595-597)Cta>Tta	p.L199L	ADCY8_uc010mds.3_Silent_p.L199L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	199					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCAAGTGTAGGACCAAGAGA	0.582000										HNSCC(32;0.087)				66			13		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653326	159653326	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:159653326G>A	uc010kjv.3	+	10	1982	c.1782G>A	c.(1780-1782)agG>agA	p.R594R	FNDC1_uc010kjw.1_Silent_p.R479R	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	594						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCCCCGAAGGGAAGGCGTAG	0.701000														17			5		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507993	39507993	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:39507993G>A	uc003oot.2	-	12	1526	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Silent_p.I268I|KIF6_uc011dua.1_Silent_p.I477I|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	477					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTTGACCAGGATATCTGAAA	0.398000														119			14		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354660	31354660	+	Missense_Mutation	SNP	G	A	A	rs147613921		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:31354660G>A	uc001wqr.2	+	9	874	c.794G>A	c.(793-795)gGg>gAg	p.G265E	COCH_uc001wqp.2_Missense_Mutation_p.G265E|COCH_uc001wqq.4_Missense_Mutation_p.G265E|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.G116E	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	265	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix		p.G265G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GTAAGAAAAGGGATCCCCAAA	0.413000														116			33		0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55836455	55836455	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:55836455G>A	uc001xbx.2	-	9	1397	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S341F	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	454					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CTGACTCTGGGAGACTTCCAC	0.587000														84			16		0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39867422	39867422	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:39867422C>T	uc002olb.3	+	8	2130	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	SAMD4B_uc002ola.3_Silent_p.S365S	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	365	SAM.						protein binding	p.S365F(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCAAGTCCCTAGAGAAGG	0.572000														43			8		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985247	21985247	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:21985247G>A	uc003xas.3	-	2	1373	c.708C>T	c.(706-708)caC>caT	p.H236H	HR_uc003xat.3_Silent_p.H236H	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	236							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCTCTGCAGGTGCCCACCAG	0.602000														180			66		0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4593483	4593483	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:4593483G>A	uc010qyg.2	-	2	350	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	117										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGAGATCCAGGAAATAGAGAT	0.458000														70			10		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56663245	56663245	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:56663245C>T	uc010dcz.2	-	17	3123	c.3005G>A	c.(3004-3006)gGa>gAa	p.G1002E	TEX14_uc002iwr.2_Missense_Mutation_p.G996E|TEX14_uc002iws.2_Missense_Mutation_p.G996E|TEX14_uc010dda.2_Missense_Mutation_p.G776E	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1002						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGCCATTTCCTCTGGGCTC	0.532000														130			52		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	947051	947051	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr4:947051C>T	uc003gbq.3	+	7	634	c.536C>T	c.(535-537)gCt>gTt	p.A179V	TMEM175_uc010ibl.1_Missense_Mutation_p.A179V|TMEM175_uc003gbp.1_Missense_Mutation_p.A97V|TMEM175_uc003gbs.3_Missense_Mutation_p.A62V|TMEM175_uc003gbt.3_Missense_Mutation_p.A62V|TMEM175_uc003gbr.3_Missense_Mutation_p.A97V	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	179						integral to membrane		p.R178G(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCACAGGGCTCTGTACCGA	0.612000														34			10		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248555	94248555	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:94248555G>A	uc003kkx.2	-	8	1477	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	MCTP1_uc003kkv.2_Missense_Mutation_p.P272S|MCTP1_uc003kkw.2_Missense_Mutation_p.P226S|MCTP1_uc003kkz.2_Missense_Mutation_p.P154S|MCTP1_uc003kku.2_Missense_Mutation_p.P9S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	493	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCACGTAGGGATCGCTCAAC	0.463000														122			26		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918064	39918064	+	Silent	SNP	C	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:39918064C>A	uc003axz.3	+	2	793	c.513C>A	c.(511-513)tcC>tcA	p.S171S	ATF4_uc011aol.1_Silent_p.S83S|ATF4_uc003aya.3_Silent_p.S171S|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	171					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L170M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GGGTCCTGTCCTCCACTCCAG	0.502000														152			55		1.48341e-19	1.49924e-19	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92798971	92798971	+	Silent	SNP	A	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:92798971A>T	uc001dot.2	+	8	1588	c.1479A>T	c.(1477-1479)atA>atT	p.I493I	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	493						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCCACTGATAGACTCAAGTT	0.328000														78			16		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94259666	94259666	+	Splice_Site	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:94259666C>T	uc003kkx.2	-	7	1272	c.1272_splice	c.e7+1	p.R424_splice	MCTP1_uc003kkv.2_Splice_Site_p.R203_splice|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Splice_Site_p.R85_splice|MCTP1_uc003kku.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	424					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTAGACATTACCCTCCAAAAG	0.303000														30			4		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32463992	32463992	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr22:32463992C>T	uc003amc.3	+	3	601	c.351C>T	c.(349-351)gtC>gtT	p.V117V	SLC5A1_uc011alz.2_5'UTR	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	117					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGCTGTTTGTCCCCATCTATA	0.488000														192			66		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43591931	43591931	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:43591931G>A	uc003tid.1	+	27	5111	c.4506G>A	c.(4504-4506)cgG>cgA	p.R1502R	HECW1_uc011kbi.1_Silent_p.R1468R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1502	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1481R(1)|p.F1501Y(1)|p.F1501L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGAGTACCGGGGAGGTGAGT	0.478000														88			6		0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181966	120181966	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:120181966G>A	uc004eto.3	+	0	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	143					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding	p.R143C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAGCACCGCACGCCCTGC	0.567000														116			26		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427852	10427852	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr17:10427852C>T	uc010coi.3	-	34	5234	c.5106G>A	c.(5104-5106)gaG>gaA	p.E1702E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1702E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1702Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCTCCTCTCTGTCTGTT	0.577000														127			20		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18751011	18751011	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:18751011G>A	uc001mpd.3	-	13	2024	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	PTPN5_uc001mpb.3_Silent_p.L499L|PTPN5_uc001mpc.3_Silent_p.L531L|PTPN5_uc010rdj.2_Silent_p.L475L|PTPN5_uc001mpf.3_Silent_p.L507L|PTPN5_uc001mpe.3_Silent_p.L499L|PTPN5_uc010rdk.2_Silent_p.L476L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	531	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.Q530K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTCCTGACGGAGCTGGCACG	0.662000														25			10		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306737	179306737	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:179306737G>A	uc003mlh.3	-	7	1342	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	TBC1D9B_uc003mli.3_Missense_Mutation_p.P436L|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P436L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	436						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCTGAGGGGAGAGGCTGG	0.622000														64			8		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544335	1544335	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr16:1544335C>T	uc002cly.3	+	1	344	c.53C>T	c.(52-54)gCc>gTc	p.A18V	TELO2_uc010uvg.1_Missense_Mutation_p.A18V	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	18						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCATTCATGCCCTCTCGTCT	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			18		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282185	74282185	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:74282185G>A	uc004ebz.3	-	13	1941	c.1916C>T	c.(1915-1917)tCg>tTg	p.S639L	ABCB7_uc010nlt.3_Missense_Mutation_p.S598L|ABCB7_uc004eca.3_Missense_Mutation_p.S638L|ABCB7_uc011mqn.2_Missense_Mutation_p.S612L|ABCB7_uc010nls.3_Missense_Mutation_p.S599L	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	638	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CGAATCTAACGATGAAGTAGC	0.353000														45			17		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008979	184008979	+	Silent	SNP	G	A	A	rs114388448	byFrequency	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:184008979G>A	uc003fni.4	+	16	2378	c.2340G>A	c.(2338-2340)gaG>gaA	p.E780E	ECE2_uc011brh.1_Silent_p.E633E|ECE2_uc003fnl.4_Silent_p.E708E|ECE2_uc003fnm.4_Silent_p.E662E|ECE2_uc003fnk.4_Silent_p.E633E|ECE2_uc011bri.1_Silent_p.E695E|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	780	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTGGGGGAGAACATTGCTG	0.632000														78			31		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228897	3228897	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:3228897G>A	uc004crg.4	-	6	7504	c.7347C>T	c.(7345-7347)atC>atT	p.I2449I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2449	Ig-like C2-type 9.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACAGTGGTGATGGGGTTGG	0.587000														61			13		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269257	34269257	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:34269257G>A	uc001wru.3	+	11	1808	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	NPAS3_uc001wrs.3_Missense_Mutation_p.D569N|NPAS3_uc001wrv.3_Missense_Mutation_p.D552N|NPAS3_uc001wrt.3_Missense_Mutation_p.D550N	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGCGCCAAGGACTCGGACAG	0.672000														19			3		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71158482	71158482	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:71158482C>T	uc001swi.2	-	2	848	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PTPRR_uc010stq.2_Missense_Mutation_p.G33E	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	145					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTAAGAGTCCTAAAGCTGC	0.413000														103			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000803	41000803	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:41000803C>T	uc003jmj.4	-	37	4817	c.4327G>A	c.(4327-4329)Gat>Aat	p.D1443N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D998N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1443							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGGTTGGGATCCCAAAGGTGC	0.478000														25			4		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81218086	81218086	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr15:81218086G>A	uc002bfw.1	+	17	2670	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	KIAA1199_uc010unn.1_Missense_Mutation_p.D804N	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	804										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGTGTGGCTGGACAGCTGCCG	0.647000														35			6		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56418155	56418155	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:56418155G>A	uc003pcy.4	-	41	7674	c.7566C>T	c.(7564-7566)acC>acT	p.T2522T		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4934					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCCCAATTGGTTTTAATTG	0.333000														121			18		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216260106	216260106	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:216260106G>A	uc001hku.1	-	23	5329	c.4942C>T	c.(4942-4944)Ctg>Ttg	p.L1648L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1648	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCCTCCCAGAAAGACTCCT	0.433000										HNSCC(13;0.011)				37			26		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357872	149357872	+	Silent	SNP	T	C	C			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr5:149357872T>C	uc003lrh.3	+	1	925	c.657T>C	c.(655-657)atT>atC	p.I219I		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	219						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTATGCAATTATGGTTGGCA	0.363000														89			26		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958140	49958140	+	Silent	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:49958140C>T	uc004dow.1	-	4	1348	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	AKAP4_uc004dou.1_Silent_p.K399K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.K230K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	408					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACAGATTTCTCTTGACAGCTG	0.453000														107			14		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47168901	47168901	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr12:47168901G>A	uc001rpi.2	-	13	1629	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC38A4_uc001rpj.2_Silent_p.I410I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	410					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGAGAAGGGGGATGTCTAATG	0.428000														91			64		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10254918	10254918	+	Missense_Mutation	SNP	G	A	A	rs35365223		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:10254918G>A	uc003bve.1	+	4	632	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	186					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCCTAAGCAGGAAAAACTTTT	0.498000														77			18		0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43024176	43024176	+	Silent	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr6:43024176G>A	uc003ots.1	-	2	396	c.273C>T	c.(271-273)atC>atT	p.I91I	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Silent_p.I91I|KLC4_uc003otu.3_5'Flank|KLC4_uc003otv.1_5'Flank|KLC4_uc011dvd.1_5'Flank	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	91					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CATGCACCCGGATTCGGCCTG	0.532000														33			15		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17846827	17846827	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr2:17846827C>T	uc002rco.3	-	27	3511	c.3215G>A	c.(3214-3216)aGa>aAa	p.R1072K	SMC6_uc010exo.3_Missense_Mutation_p.R1072K|SMC6_uc002rcn.3_Missense_Mutation_p.R1072K	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	1072					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTTTGTCCTCTTTCAGGATC	0.373000														71			22		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48206994	48206994	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chrX:48206994C>T	uc004djd.1	-	6	606	c.512G>A	c.(511-513)aGa>aAa	p.R171K		NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CAGCTGCTTTCTCTCACGCAG	0.507000														383			164		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123366075	123366075	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:123366075C>T	uc003ego.3	-	26	4897	c.4615G>A	c.(4615-4617)Gag>Aag	p.E1539K	MYLK_uc010hrr.3_Intron|MYLK_uc011bjv.2_Missense_Mutation_p.E339K|MYLK_uc011bjw.2_Missense_Mutation_p.E1539K|MYLK_uc003egp.3_Missense_Mutation_p.E1470K|MYLK_uc003egq.3_Missense_Mutation_p.E1539K|MYLK_uc003egr.3_Missense_Mutation_p.E1470K|MYLK_uc003egs.3_Missense_Mutation_p.E1363K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1539	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCACATCTCCAGGACCATG	0.587000														56			5		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60638743	60638744	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr11:60638743_60638744CC>TT	uc001nqd.3	+	5	1088_1089	c.1068_1069CC>TT	c.(1066-1071)atccaa>atTTaa	p.Q357*	ZP1_uc001nqe.3_Nonsense_Mutation_p.Q64*	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	357	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCATCCACATCCAAAAGGGGCC	0.614000														42			15		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105205679	105205679	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr14:105205679G>A	uc001ypd.3	+	3	447	c.373G>A	c.(373-375)Gag>Aag	p.E125K	ADSSL1_uc001ype.3_Missense_Mutation_p.E168K|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	125					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GAAGGACTGGGAGAAGAGGCT	0.642000														12			4		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19411035	19411035	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:19411035G>A	uc001bbi.3	-	101	14975	c.14971C>T	c.(14971-14973)Ccg>Tcg	p.P4991S	UBR4_uc001bbf.3_5'Flank|UBR4_uc010ocv.2_Missense_Mutation_p.P514S|UBR4_uc009vph.3_Missense_Mutation_p.P625S|UBR4_uc010ocw.2_Missense_Mutation_p.P655S|UBR4_uc001bbg.3_Missense_Mutation_p.P702S|UBR4_uc001bbh.3_Missense_Mutation_p.P700S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4991					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGATGTACGGGATCAGGTGG	0.602000														78			9		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394286	17394286	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:17394286C>T	uc010xpn.1	+	4	989	c.875C>T	c.(874-876)cCc>cTc	p.P292L	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.P238L|ANKLE1_uc010eao.1_Missense_Mutation_p.P260L|ANKLE1_uc002nfy.2_Missense_Mutation_p.P227L|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	238						nuclear envelope		p.P224L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCGGACACTCCCCCCTGGGCT	0.627000														89			23		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16962001	16962001	+	Splice_Site	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr8:16962001G>A	uc003wxd.2	+	10	1127	c.1085_splice	c.e10+1	p.R362_splice		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	362						integral to membrane	calcium ion binding	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ATTTTTATAGGTGAGCttatt	0.308000														48			14		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14765861	14765861	+	Silent	SNP	C	T	T	rs143842724	by1000genomes	TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr19:14765861C>T	uc002mzi.4	-	5	658	c.510G>A	c.(508-510)tcG>tcA	p.S170S	EMR3_uc010dzp.3_Silent_p.S118S|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	170					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTAGAACTTTCGATTCCACAT	0.413000														100			25		0	0	1	0	0
FIS1	51024	broad.mit.edu	37	7	100883103	100883103	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:100883103G>A	uc003uyj.4	-	4	529	c.443C>T	c.(442-444)tCc>tTc	p.S148F	CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|CLDN15_uc003uyi.3_5'Flank|CLDN15_uc022aja.1_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	148					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	p.V147M(1)		kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTTGGACTTGGACACAGCAAG	0.647000														11			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr1:181680102_181680103delAG	uc009wxt.3	+	7	1263_1264	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													---	145	---	---	7	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													---	6	---	---	3	---					
DNAJB8	165721	broad.mit.edu	37	3	128181788	128181788	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr3:128181788delG	uc003ekk.1	-	2	1962	c.301delC	c.(301-303)cggfs	p.R101fs	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Frame_Shift_Del_p.R101fs	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	101					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		AAAAACTCCCGGAAGATGTCC	0.632													---	135	---	---	30	---					
BRAF	673	broad.mit.edu	37	7	140453134	140453136	+	In_Frame_Del	DEL	TCA	-	-	rs121913377		TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr7:140453134_140453136delTCA	uc003vwc.4	-	14	1860_1862	c.1799_1801delTGA	c.(1798-1803)gtgaaa>gaa	p.600_601VK>E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.K601E(117)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600M(22)|p.V600G(22)|p.K601N(12)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.K601del(5)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600V(2)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCTAG	0.374	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				---	94	---	---	79	---					
NFATC2	4773	broad.mit.edu	37	20	50092010	50092010	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A3YO-06A-11D-A23B-08	TCGA-FR-A3YO-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe40eec7-bcd2-4fcb-9c98-ef11596cab32	34579f1f-989c-4c25-b854-1d4f3948defb	g.chr20:50092010delT	uc002xwd.3	-	3	1740	c.1520delA	c.(1519-1521)aacfs	p.N507fs	NFATC2_uc002xwc.3_Frame_Shift_Del_p.N507fs|NFATC2_uc010zyv.2_Frame_Shift_Del_p.N288fs|NFATC2_uc010zyw.2_Frame_Shift_Del_p.N288fs|NFATC2_uc002xwe.3_Frame_Shift_Del_p.N487fs|NFATC2_uc010zyx.2_Frame_Shift_Del_p.N487fs|NFATC2_uc010zyy.2_Frame_Shift_Del_p.N288fs|NFATC2_uc010zyz.2_Frame_Shift_Del_p.N288fs	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	507	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K506Q(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTCATGTTGTTTTTGGGCTC	0.572													---	239	---	---	9	---