Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLIT3	6586	broad.mit.edu	37	5	168123338	168123338	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:168123338C>A	ENST00000519560.1	-	28	3460	c.3041G>T	c.(3040-3042)gGg>gTg	p.G1014V	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1014V|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1021V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1014	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGTTGATCCCGTCCACGCA	0.532000													4	82					0.00909568	0.0103523	1	1	0
ANO2	57101	broad.mit.edu	37	12	5941687	5941687	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:5941687C>A	ENST00000356134.5	-	6	778	c.707G>T	c.(706-708)cGa>cTa	p.R236L	ANO2_ENST00000327087.8_Missense_Mutation_p.R235L|ANO2_ENST00000546188.1_Missense_Mutation_p.R236L	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	240						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCTGGAACTCGGGGCTGCAG	0.507000													4	48					0.00909568	0.0103523	1	1	0
SCML2	10389	broad.mit.edu	37	X	18342108	18342108	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:18342108C>T	ENST00000251900.4	-	5	427	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	90					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)					AACCTGGCCCCAGTAATTCCA	0.448000													6	66					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160033919	160033919	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:160033919C>A	ENST00000327245.5	-	19	3859	c.3013G>T	c.(3013-3015)Gcc>Tcc	p.A1005S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1005					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAGATGGCATTCAATGTC	0.502000													8	114					1.06961e-07	1.71336e-07	1	1	0
FGD5	152273	broad.mit.edu	37	3	14939574	14939574	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr3:14939574G>T	ENST00000285046.5	+	6	3148	c.3038G>T	c.(3037-3039)cGg>cTg	p.R1013L	FGD5_ENST00000543601.1_Missense_Mutation_p.R772L|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1013	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|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						CACTCTCCCCGGCTGGCAGCT	0.587000													8	86					1.12685e-05	1.58492e-05	1	1	0
WT1-AS	51352	broad.mit.edu	37	11	32460497	32460497	+	RNA	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:32460497G>T	ENST00000395900.1	+	0	1375				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGGCATCCCGGCCTCGAAGGT	0.542000													5	27					0.000602214	0.000744165	1	1	0
AK2	204	broad.mit.edu	37	1	33487295	33487295	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:33487295C>T	ENST00000373449.2	-	3	270	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	AK2_ENST00000487289.1_Missense_Mutation_p.E77K|AK2_ENST00000354858.6_Missense_Mutation_p.E77K|AK2_ENST00000548033.1_Missense_Mutation_p.E35K|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Missense_Mutation_p.E77K|AK2_ENST00000480134.1_Missense_Mutation_p.E77K	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	77					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACTACCATTTCATCACTCACC	0.443000													3	33					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:227659846T>G	ENST00000305123.4	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582000													5	22					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146971244	146971244	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:146971244G>T	ENST00000265272.5	-	21	2885	c.2418C>A	c.(2416-2418)aaC>aaA	p.N806K	JAKMIP2_ENST00000333010.6_3'UTR|JAKMIP2_ENST00000507386.1_3'UTR	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	806						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)			CATGTTTTCGGTTACTCTGCA	0.299000													5	58					5.9392e-07	9.25659e-07	1	1	0
DSE	29940	broad.mit.edu	37	6	116757314	116757314	+	Silent	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:116757314A>T	ENST00000331677.3	+	7	2127	c.1683A>T	c.(1681-1683)ctA>ctT	p.L561L	DSE_ENST00000537543.1_Silent_p.L580L|DSE_ENST00000452085.3_Silent_p.L561L|DSE_ENST00000359564.2_Silent_p.L561L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	561					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCATCCTCCTACATCCACAGC	0.493000													5	48					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769122	57769122	+	Silent	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr20:57769122G>C	ENST00000371030.2	+	1	3048	c.3048G>C	c.(3046-3048)ggG>ggC	p.G1016G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1016						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGGATGGGAGAAAAGGGG	0.672000													3	32					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561423	9561423	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr20:9561423G>T	ENST00000378429.3	-	5	905	c.359C>A	c.(358-360)gCg>gAg	p.A120E	PAK7_ENST00000353224.5_Missense_Mutation_p.A120E|PAK7_ENST00000378423.1_Missense_Mutation_p.A120E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	120	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A120V(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATTTTCTTCCGCGTGGCCTGG	0.532000													7	158					0.0381472	0.0412467	1	1	0
CUL9	23113	broad.mit.edu	37	6	43181476	43181476	+	Silent	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:43181476G>A	ENST00000252050.4	+	29	5598	c.5514G>A	c.(5512-5514)ggG>ggA	p.G1838G	CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Silent_p.G1728G|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1838				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATGAGCCTGGGCCCCAGCGCA	0.597000													12	68					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186185609	186185609	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:186185609G>T	ENST00000504273.1	+	4	551	c.257G>T	c.(256-258)aGa>aTa	p.R86I	SNX25_ENST00000264694.8_Missense_Mutation_p.R86I			Q9H3E2	SNX25_HUMAN	sorting nexin 25	86	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GAACAGCCAAGACCTTTTGTG	0.358000													8	101					0.00448238	0.00527518	1	1	0
POTEF	728378	broad.mit.edu	37	2	130878061	130878061	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:130878061C>A	ENST00000357462.5	-	1	121	c.28G>T	c.(28-30)Gct>Tct	p.A10S	POTEF_ENST00000360967.5_Missense_Mutation_p.A10S|POTEF_ENST00000361163.4_Missense_Mutation_p.A10S|POTEF_ENST00000409914.2_Missense_Mutation_p.A10S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	10						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						GAAGAGGCAGCCGGCATGGAA	0.542000													8	126					0.00829132	0.00962683	1	1	0
MFSD6L	162387	broad.mit.edu	37	17	8700984	8700984	+	Silent	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:8700984G>T	ENST00000329805.4	-	1	1683	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	485						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTCCATGCGGGGAGTGGCCA	0.607000													4	39					1.23904e-05	1.68783e-05	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784329	9784329	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:9784329G>T	ENST00000304374.2	+	1	1072	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	226					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGAACCTACGCCATCTCTTC	0.577000													4	62					1	1	1	1	0
ZNF197	10168	broad.mit.edu	37	3	44670829	44670829	+	Silent	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr3:44670829C>T	ENST00000396058.1	+	1	350	c.183C>T	c.(181-183)agC>agT	p.S61S	ZNF197_ENST00000383745.2_Silent_p.S61S|ZNF197_ENST00000344387.4_Silent_p.S61S|ZNF197_ENST00000383744.4_Silent_p.S61S|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	61	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAGCCCTGAGCCGGCTCAGGG	0.572000													4	86					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132169773	132169773	+	Splice_Site	SNP	C	C	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:132169773C>G	ENST00000378539.5	-	5	1748		c.e5-1		PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000359827.3_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4							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						TGCCGAAGGACTAGGGAACAA	0.423000													4	56					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70757866	70757866	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:70757866G>A	ENST00000373719.3	+	3	623	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.A126T	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	136					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGTAGCAGCGGGTGACAT	0.468000													3	37					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715716	165715716	+	Translation_Start_Site	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:165715716G>A	ENST00000543069.1	-	0	364				C6orf118_ENST00000230301.8_Missense_Mutation_p.T32M			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118									p.T32M(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACTCCTGGCGTCTCGCAGTG	0.522000													11	50					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234102	61234102	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr18:61234102C>A	ENST00000382768.1	+	7	1136	c.1136C>A	c.(1135-1137)gCa>gAa	p.A379E	SERPINB12_ENST00000269491.1_Missense_Mutation_p.A359E			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	359					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGTACCCAGGCAGCTGCAGCC	0.458000													4	74					0.00909568	0.0103523	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56385969	56385969	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:56385969C>A	ENST00000355701.3	-	22	5534	c.4664G>T	c.(4663-4665)tGg>tTg	p.W1555L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.W1555L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.W1495L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1555						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)					CCCTTTCTCCCAGGCTGGGAG	0.697000													5	36					0.00198382	0.00238334	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71492536	71492536	+	Silent	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:71492536C>T	ENST00000296755.7	+	5	3652	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1118						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCACCTCTGGCTACACTCAGT	0.512000													8	38					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565388	48565388	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:48565388A>T	ENST00000354276.3	-	14	1451	c.1124T>A	c.(1123-1125)aTg>aAg	p.M375K	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.M375K|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.M385K|CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.M375K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	375	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCGGCTGCTCATTATCTTGTC	0.582000													4	41					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62783425	62783425	+	RNA	SNP	T	T	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:62783425T>A	ENST00000582986.1	-	0	2147					NR_024386.1																						TTCCGGTGGTTGAGCCTTCAA	0.517000													5	34					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92538211	92538211	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:92538211T>C	ENST00000256015.3	-	2	522	c.161A>G	c.(160-162)cAt>cGt	p.H54R		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	54					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GAACCAGTGATGTTTATAATG	0.468000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	89					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579143	33579143	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:33579143C>A	ENST00000228567.3	-	2	735	c.439G>T	c.(439-441)Gct>Tct	p.A147S	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	147						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)					TCTTTTAAAGCAGTTTGGACT	0.373000													16	176					5.3912e-06	7.77232e-06	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55450401	55450401	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:55450401T>A	ENST00000588756.1	-	6	2272	c.1786A>T	c.(1786-1788)Att>Ttt	p.I596F	NLRP7_ENST00000340844.2_Missense_Mutation_p.I596F|NLRP7_ENST00000592784.1_Missense_Mutation_p.I596F|NLRP7_ENST00000590030.1_Missense_Mutation_p.I596F|NLRP7_ENST00000446217.1_Missense_Mutation_p.I624F|NLRP7_ENST00000328092.5_Missense_Mutation_p.I596F|NLRP7_ENST00000448121.2_Missense_Mutation_p.I596F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	596							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCAGGTGAATAGAAATTTCC	0.507000													5	54					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196300354	196300354	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:196300354C>T	ENST00000367433.5	-	18	2136	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	KCNT2_ENST00000451324.2_Missense_Mutation_p.G290R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629R|KCNT2_ENST00000294725.8_Missense_Mutation_p.G679R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	679						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTGAACTTCCTATATATGGA	0.328000													38	193					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724783	140724783	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:140724783G>A	ENST00000253812.6	+	1	1183	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTAAGTTAGAAAAATCAAT	0.443000													4	68					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30882027	30882027	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:30882027G>T	ENST00000251071.5	-	8	2087	c.1337C>A	c.(1336-1338)aCc>aAc	p.T446N	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.T446N|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.T113N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.T446N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.T446N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	446					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAGTTTTGAGGTGTCTTGTTT	0.488000													8	133					0.335167	0.345143	1	1	0
PUM2	23369	broad.mit.edu	37	2	20478550	20478550	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:20478550C>A	ENST00000361078.2	-	12	1773	c.1751G>T	c.(1750-1752)aGg>aTg	p.R584M	PUM2_ENST00000319801.5_Intron|PUM2_ENST00000403432.1_Missense_Mutation_p.R584M|PUM2_ENST00000536417.1_Missense_Mutation_p.R528M|PUM2_ENST00000338086.5_Missense_Mutation_p.R584M			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	584	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTCTCTCCTTGTGGCACT	0.403000													8	134					2.52707e-12	4.50704e-12	1	1	0
SEMA4D	10507	broad.mit.edu	37	9	91994042	91994042	+	Silent	SNP	C	C	A	rs147195506	byFrequency	TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr9:91994042C>A	ENST00000450295.1	-	16	2942	c.2166G>T	c.(2164-2166)tcG>tcT	p.S722S	SEMA4D_ENST00000422704.2_Silent_p.S722S|SEMA4D_ENST00000356444.2_Silent_p.S722S|SEMA4D_ENST00000438547.2_Silent_p.S722S|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	722					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGTTTTCTCCGAGTGGAGCT	0.557000													5	37					0.000602214	0.000744165	1	1	0
TRIM39	56658	broad.mit.edu	37	6	30297117	30297117	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:30297117A>T	ENST00000376659.5	+	3	621	c.23A>T	c.(22-24)gAg>gTg	p.E8V	TRIM39_ENST00000396551.3_Missense_Mutation_p.E8V|TRIM39_ENST00000396547.1_Missense_Mutation_p.E8V|TRIM39_ENST00000396548.1_Missense_Mutation_p.E8V|TRIM39_ENST00000376656.4_Missense_Mutation_p.E8V|TRIM39_ENST00000540416.1_Missense_Mutation_p.E8V	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						AGTCTGTTAGAGGCTGGGGCC	0.453000													12	236					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249894	52249894	+	Silent	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:52249894G>A	ENST00000595042.1	-	3	495	c.354C>T	c.(352-354)ctC>ctT	p.L118L	FPR1_ENST00000304748.4_Silent_p.L118L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	118					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGAGCAATGAGGGCGATCA	0.557000													8	79					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971461	34971461	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr9:34971461C>A	ENST00000242315.3	+	2	248	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	KIAA1045_ENST00000544237.1_Missense_Mutation_p.Q56K|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	56							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGGAGGTACAGGAGGAGAA	0.662000													6	72					0.00198382	0.00238334	1	1	0
ECD	11319	broad.mit.edu	37	10	74914087	74914087	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr10:74914087A>T	ENST00000372979.4	-	6	916	c.710T>A	c.(709-711)cTa>cAa	p.L237Q	ECD_ENST00000454759.1_Missense_Mutation_p.L237Q|ECD_ENST00000430082.1_Missense_Mutation_p.L237Q	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	237					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AGGGTCTCGTAGGTAAAATGC	0.493000													8	37					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764844	140764844	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:140764844C>T	ENST00000518325.1	+	1	2378	c.2378C>T	c.(2377-2379)aCa>aTa	p.T793I	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTGCTAACATCCGTAGAT	0.443000													5	69					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66200027	66200027	+	Silent	SNP	A	A	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr14:66200027A>G	ENST00000360689.5	+	10	3065	c.1338A>G	c.(1336-1338)tcA>tcG	p.S446S	FUT8_ENST00000394585.1_Silent_p.S446S|FUT8_ENST00000417683.1_Silent_p.S40S|FUT8_ENST00000557164.1_Silent_p.S283S|FUT8_ENST00000394586.2_Silent_p.S446S|FUT8_ENST00000358307.2_Silent_p.S317S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	446					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAGAAAATTCACTTCGTGGAG	0.358000													8	98					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336712	82336712	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr15:82336712C>A	ENST00000329713.4	-	2	934	c.499G>T	c.(499-501)Gta>Tta	p.V167L	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	167	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGGTAGGGTACCCGCACTTGG	0.667000													6	53					5.9392e-07	9.25659e-07	1	1	0
DYTN	391475	broad.mit.edu	37	2	207527739	207527739	+	Silent	SNP	C	C	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:207527739C>G	ENST00000452335.2	-	11	1637	c.1521G>C	c.(1519-1521)gtG>gtC	p.V507V		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	507						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTCTTTTCCACGGCTGCCA	0.473000													8	90					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896894	175896894	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:175896894T>G	ENST00000359240.3	+	5	888	c.218T>G	c.(217-219)tTg>tGg	p.L73W	ADAM29_ENST00000514159.1_Missense_Mutation_p.L73W|ADAM29_ENST00000445694.1_Missense_Mutation_p.L73W|ADAM29_ENST00000404450.4_Missense_Mutation_p.L73W	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	73					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGAAGCTTTTGTTTTCCAAA	0.488000													9	41					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140641356	140641356	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:140641356C>A	ENST00000509479.2	-	5	3394	c.2538G>T	c.(2536-2538)acG>acT	p.T846T	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	842	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CGGTGGCCATCGTCCCAGGGT	0.597000													11	155					3.07112e-06	4.5802e-06	1	1	0
KIF3C	3797	broad.mit.edu	37	2	26151931	26151931	+	Silent	SNP	A	A	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:26151931A>G	ENST00000264712.3	-	8	2877	c.2298T>C	c.(2296-2298)agT>agC	p.S766S	KIF3C_ENST00000405914.1_Silent_p.S766S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	766	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCTGAGGACTCTGGCACC	0.597000													4	53					0	0	1	0	0
HIST3H2A	92815	broad.mit.edu	37	1	228645165	228645165	+	Silent	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:228645165G>T	ENST00000366695.2	-	1	395	c.354C>A	c.(352-354)ccC>ccA	p.P118P		NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	118					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CCGTCTTCTTGGGCAGCAGTA	0.647000													4	57					0.150653	0.157006	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207426947	207426947	+	Silent	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:207426947G>C	ENST00000264377.3	+	13	1603	c.1275G>C	c.(1273-1275)gtG>gtC	p.V425V	ADAM23_ENST00000374415.3_Silent_p.V425V|ADAM23_ENST00000374416.1_Silent_p.V425V	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	425	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAATGGCAGTGGCACAAGTAT	0.413000													10	210					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887267	73887267	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:73887267G>T	ENST00000269383.3	-	6	1212	c.1147C>A	c.(1147-1149)Cac>Aac	p.H383N		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	383	B30.2/SPRY.					intracellular	zinc ion binding	p.H383N(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGTAGTGGTGCCCGGCCTGG	0.672000													4	37					0.150653	0.157006	1	1	0
CERCAM	51148	broad.mit.edu	37	9	131191103	131191103	+	Silent	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr9:131191103G>T	ENST00000372842.1	+	8	3864	c.720G>T	c.(718-720)ggG>ggT	p.G240G	CERCAM_ENST00000372838.4_Silent_p.G318G			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	318					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCAAGATAGGGTTTGACGAGG	0.642000													3	33					6.4e-05	8.45377e-05	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55419134	55419134	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:55419134G>T	ENST00000312422.2	+	1	755	c.755G>T	c.(754-756)tGt>tTt	p.C252F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTCGGCCCCTGTACTTTTATG	0.468000													11	52					6.40141e-05	8.45377e-05	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117651328	117651328	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:117651328G>C	ENST00000321322.6	-	2	425	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	82	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TAGAGCTGCAGCGTCCCGTTG	0.657000													5	113					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999360	145999360	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr8:145999360T>A	ENST00000429371.2	-	6	1064	c.911A>T	c.(910-912)cAc>cTc	p.H304L	ZNF34_ENST00000343459.4_Missense_Mutation_p.H325L	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AATCCTCTGGTGCTTCATGAG	0.532000													8	26					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29038475	29038475	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr18:29038475C>A	ENST00000257189.4	+	4	367	c.284C>A	c.(283-285)cCg>cAg	p.P95Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	95	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATCGATCAGCCGCCTTTTGGA	0.438000													4	79					0.150653	0.157006	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1995476	1995476	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:1995476C>T	ENST00000382722.5	-	8	1268	c.906G>A	c.(904-906)atG>atA	p.M302I	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.M238I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.M302I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.M302I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.M238I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	302	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCAGCCCCTTCATACTGCCGC	0.483000													3	40					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280492	117280492	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:117280492C>A	ENST00000278935.3	+	30	4054	c.3907C>A	c.(3907-3909)Ccc>Acc	p.P1303T	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1303					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCAGCTCCCTCCCCGGGACCC	0.652000													13	138					7.93312e-07	1.21454e-06	1	1	0
PRR11	55771	broad.mit.edu	37	17	57275130	57275130	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:57275130G>C	ENST00000262293.4	+	9	1306	c.994G>C	c.(994-996)Gcc>Ccc	p.A332P	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.A39P	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	332								p.A332S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GATGACGCAGGCCTTAAGGAG	0.433000													8	76					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220172232	220172232	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:220172232G>T	ENST00000295718.2	-	3	454	c.214C>A	c.(214-216)Ctt>Att	p.L72I	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Missense_Mutation_p.L72I	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	72					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACTTGCAAAAGGGGCCGGGCC	0.567000													7	58					5.18039e-06	7.59498e-06	1	1	0
CPA6	57094	broad.mit.edu	37	8	68340320	68340320	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr8:68340320C>A	ENST00000297770.4	-	10	1303	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	363					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTATCGTACCCCGTATACTGA	0.388000													4	36					0.00198382	0.00238334	1	1	0
AJAP1	55966	broad.mit.edu	37	1	4829938	4829938	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:4829938C>A	ENST00000378191.4	+	3	1236	c.855C>A	c.(853-855)acC>acA	p.T285T	AJAP1_ENST00000378190.3_Silent_p.T285T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	285					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AGATCATCACCATCACCGTCT	0.547000													8	147					7.48243e-07	1.15577e-06	1	1	0
SLC16A14	151473	broad.mit.edu	37	2	230911166	230911166	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:230911166C>T	ENST00000295190.4	-	4	1134	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	226						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGGCCACGCACATCTTTCTCT	0.557000													12	87					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354457	103354457	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:103354457C>A	ENST00000358392.2	-	60	4836	c.4519G>T	c.(4519-4521)Ggt>Tgt	p.G1507C	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1379C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1495C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1456C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1495	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTAAGGGACCAGCAGGACCA	0.363000													4	90					0.0215528	0.0234505	1	1	0
RYR1	6261	broad.mit.edu	37	19	38985063	38985063	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:38985063C>A	ENST00000355481.4	+	39	6477	c.6346C>A	c.(6346-6348)Ctg>Atg	p.L2116M	RYR1_ENST00000359596.3_Missense_Mutation_p.L2116M|RYR1_ENST00000360985.3_Missense_Mutation_p.L2116M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2116	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCCCCGAGCTGGTGCGGGC	0.667000													4	29					1.024e-07	1.67125e-07	1	1	0
GJB6	10804	broad.mit.edu	37	13	20797511	20797511	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr13:20797511C>T	ENST00000356192.6	-	5	729	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	GJB6_ENST00000400065.3_Missense_Mutation_p.V37M|GJB6_ENST00000241124.6_Missense_Mutation_p.V37M|GJB6_ENST00000400066.3_Missense_Mutation_p.V37M	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	37			V -> E (in ED2).		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GCAGCCACCACGAGGATCATG	0.532000													8	80					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207965	121207965	+	Silent	SNP	T	T	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr3:121207965T>A	ENST00000264233.5	-	16	3941	c.3813A>T	c.(3811-3813)tcA>tcT	p.S1271S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1271					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATGCTCCAGCTGATGGAAGTA	0.338000								DNA polymerases (catalytic subunits)					12	148					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282140	152282140	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:152282140C>A	ENST00000368799.1	-	3	5257	c.5222G>T	c.(5221-5223)gGg>gTg	p.G1741V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1741	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATGGGGCCCAGCCTGTCC	0.592000									Ichthyosis				14	309					1.05317e-09	1.84039e-09	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51890830	51890830	+	Silent	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:51890830G>C	ENST00000453097.2	+	22	3220	c.3003G>C	c.(3001-3003)ctG>ctC	p.L1001L	SLC4A8_ENST00000358657.3_Silent_p.L1028L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	1001					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGCGAGAGCTGAGCTGGCTAG	0.413000													7	70					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488794	25488794	+	RNA	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr15:25488794G>C	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TTTTCCTGAAGAGAGGTGATG	0.512000													15	324					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15437422	15437422	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:15437422C>A	ENST00000295297.4	+	2	335	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	C1QTNF7_ENST00000429690.1_Silent_p.R19R|C1QTNF7_ENST00000444304.2_Silent_p.R19R	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	19						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TGGACAACCCCGGGGTAATCA	0.498000													4	56					0.00024832	0.000315878	1	1	0
SH3BP1	23616	broad.mit.edu	37	22	38061668	38061668	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr22:38061668C>G	ENST00000599616.1	+	16	1608	c.1608C>G	c.(1606-1608)agC>agG	p.S536R	PDXP_ENST00000403251.1_Missense_Mutation_p.S10R|PDXP_ENST00000215904.6_Missense_Mutation_p.S227R			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	0					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGAACTTCAGCATCGACCCCG	0.652000													7	117					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51586180	51586180	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:51586180C>A	ENST00000389243.4	-	9	1263	c.324G>T	c.(322-324)aaG>aaT	p.K108N	POU6F1_ENST00000550824.1_Missense_Mutation_p.K108N|POU6F1_ENST00000333640.10_Missense_Mutation_p.K108N			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	108	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGGCAGATGGCTTGGCGGCTG	0.592000													5	87					0.0215528	0.0234505	1	1	0
KBTBD6	89890	broad.mit.edu	37	13	41706312	41706312	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr13:41706312C>A	ENST00000379485.1	-	1	570	c.336G>T	c.(334-336)gtG>gtT	p.V112V	KBTBD6_ENST00000499385.2_Silent_p.V46V	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	112	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CGTGCATGGTCACGCTGGCCT	0.607000													3	28					0.004672	0.00546119	1	1	0
ZNF142	7701	broad.mit.edu	37	2	219506819	219506819	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:219506819G>A	ENST00000411696.2	-	7	5199	c.4420C>T	c.(4420-4422)Cac>Tac	p.H1474Y	ZNF142_ENST00000449707.1_Missense_Mutation_p.H1474Y			P52746	ZN142_HUMAN	zinc finger protein 142	1474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCCCAGTGTGGATGCGGCTG	0.547000													6	81					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605728	7605728	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:7605728C>T	ENST00000316024.5	+	7	3370	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	WRAP53_ENST00000396463.2_Missense_Mutation_p.A341V|WRAP53_ENST00000534050.1_Missense_Mutation_p.A308V|WRAP53_ENST00000431639.2_Missense_Mutation_p.A341V|WRAP53_ENST00000457584.2_Missense_Mutation_p.A341V			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	341					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCCTCTATGCCTGTGGCTCC	0.637000													3	38					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45161043	45161043	+	Silent	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:45161043C>T	ENST00000425690.3	+	5	1155	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	PVR_ENST00000344956.4_Silent_p.L286L|PVR_ENST00000403059.4_Silent_p.L286L|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.L286L	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	286	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CATGGGTCCCCTGCCACCCTT	0.587000											OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144103160	144103160	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr8:144103160G>T	ENST00000520466.1	+	5	753	c.350G>T	c.(349-351)gGg>gTg	p.G117V	LY6E_ENST00000521182.1_3'UTR|LY6E_ENST00000517503.1_3'UTR|LY6E_ENST00000522024.1_Missense_Mutation_p.G117V|LY6E_ENST00000292494.6_Missense_Mutation_p.G117V|LY6E_ENST00000523847.1_Intron|LY6E_ENST00000519546.1_3'UTR|LY6E_ENST00000522971.1_Missense_Mutation_p.G117V|LY6E_ENST00000521003.1_Missense_Mutation_p.G117V|LY6E_ENST00000519611.1_3'UTR|LY6E_ENST00000429120.2_Missense_Mutation_p.G117V|LY6E_ENST00000521699.1_Missense_Mutation_p.G117V|LY6E_ENST00000522528.1_3'UTR			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	117					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGTGCCGGGCTGCTGCTG	0.677000													7	68					2.0095e-06	3.02298e-06	1	1	0
ZER1	10444	broad.mit.edu	37	9	131512964	131512964	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr9:131512964C>A	ENST00000291900.2	-	8	1696	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	430					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GCTTCACACTCTGCTCTGAGC	0.582000													8	55					1.06961e-07	1.71336e-07	1	1	0
MED17	9440	broad.mit.edu	37	11	93542932	93542932	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:93542932G>T	ENST00000251871.3	+	11	1921	c.1634G>T	c.(1633-1635)gGc>gTc	p.G545V	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	545					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	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor 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)				AAGGTTATGGGCTGGCAAGTA	0.488000													14	124					1.15088e-07	1.82662e-07	1	1	0
TEKT4	150483	broad.mit.edu	37	2	95539840	95539840	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:95539840A>T	ENST00000295201.4	+	3	837	c.700A>T	c.(700-702)Acc>Tcc	p.T234S	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	234					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTACTCCACCACCTTCCAAGA	0.657000													5	60					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368622	22368622	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr15:22368622G>T	ENST00000332663.2	+	1	145	c.47G>T	c.(46-48)gGc>gTc	p.G16V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		GTTCTCACTGGCCTATCCCAG	0.338000													12	274					0.000151284	0.000198274	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141079552	141079552	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:141079552C>T	ENST00000389484.3	-	82	13591	c.12620G>A	c.(12619-12621)tGc>tAc	p.C4207Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4207					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)		GTCATCATTGCAGGTGCCATT	0.363000										TSP Lung(27;0.18)			7	85					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994813	39994813	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:39994813T>C	ENST00000205143.4	+	5	762	c.755T>C	c.(754-756)gTc>gCc	p.V252A	DLL3_ENST00000356433.5_Missense_Mutation_p.V252A	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	252					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACGGTCCCTGTCTCCACCAGC	0.667000													5	37					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344503	72344503	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr18:72344503G>T	ENST00000299687.5	+	1	1528	c.1528G>T	c.(1528-1530)Gac>Tac	p.D510Y	ZNF407_ENST00000577538.1_Missense_Mutation_p.D510Y|ZNF407_ENST00000309902.6_Missense_Mutation_p.D510Y|ZNF407_ENST00000582337.1_Missense_Mutation_p.D510Y	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCGTCCTCCGGACTCCGGGCT	0.567000													6	79					0.0215528	0.0234505	1	1	0
RYR2	6262	broad.mit.edu	37	1	237774134	237774134	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:237774134C>A	ENST00000366574.2	+	36	5073	c.4756C>A	c.(4756-4758)Ctc>Atc	p.L1586I	RYR2_ENST00000542537.1_Missense_Mutation_p.L1570I|RYR2_ENST00000360064.6_Missense_Mutation_p.L1584I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1586	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCCCCGCGCCTCCACGTGCA	0.547000													4	17					0.00024832	0.000315878	1	1	0
LYPD3	27076	broad.mit.edu	37	19	43965940	43965940	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:43965940C>A	ENST00000244333.3	-	5	692	c.604G>T	c.(604-606)Gat>Tat	p.D202Y		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	202	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GTTACTCCATCCCGAGTGCAG	0.577000													7	52					0.00307968	0.00364921	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263163	248263163	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:248263163C>A	ENST00000366478.2	+	3	823	c.486C>A	c.(484-486)gcC>gcA	p.A162A	OR2L13_ENST00000358120.2_Silent_p.A162A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CAGTCTTTGCCCTTCATATTC	0.463000													7	189					2.0095e-06	3.02298e-06	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140674	143140674	+	Silent	SNP	C	C	A	rs140806474		TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:143140674C>A	ENST00000332690.1	+	1	129	c.129C>A	c.(127-129)ggC>ggA	p.G43G	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	43					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGCTCTGGGCGTGGAGTGGG	0.498000													16	118					1.67942e-08	2.82077e-08	1	1	0
S100G	795	broad.mit.edu	37	X	16672563	16672563	+	Silent	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:16672563G>A	ENST00000380200.3	+	3	225	c.171G>A	c.(169-171)ctG>ctA	p.L57L	CTPS2_ENST00000359276.4_Intron|CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	57	EF-hand 2.						calcium ion binding|vitamin D binding			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					TTCAAGAACTGGACAAGAATG	0.383000													4	92					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300320	88300320	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:88300320C>A	ENST00000418177.2	-	8	2898	c.2531G>T	c.(2530-2532)cGc>cTc	p.R844L	GRM5_ENST00000393297.1_Missense_Mutation_p.R844L|GRM5_ENST00000305432.5_Missense_Mutation_p.R844L|GRM5_ENST00000305447.4_Missense_Mutation_p.R844L|GRM5_ENST00000455756.2_Missense_Mutation_p.R844L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	844					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TACATGCATGCGCACCACGGT	0.572000													6	55					1.26484e-09	2.18818e-09	1	1	0
PKP2	5318	broad.mit.edu	37	12	33003784	33003784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:33003784C>A	ENST00000340811.4	-	5	1402	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	PKP2_ENST00000070846.6_Nonsense_Mutation_p.E432*	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	432					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGCCACCTCCAATTTGTTG	0.453000													8	77					0.000274275	0.000343838	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687489	158687489	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:158687489C>A	ENST00000368146.1	-	1	464	c.465G>T	c.(463-465)cgG>cgT	p.R155R	OR6K3_ENST00000368145.1_Silent_p.R139R			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	155					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)					GAGCACAGAGCCGGGGGGTCA	0.522000													6	97					1	1	1	1	0
PES1	23481	broad.mit.edu	37	22	30980679	30980679	+	Missense_Mutation	SNP	G	G	A	rs141115125	byFrequency	TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr22:30980679G>A	ENST00000354694.6	-	5	500	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	PES1_ENST00000335214.6_Missense_Mutation_p.R132W|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.R132W|PES1_ENST00000405677.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	132	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCCAGGTCCCGCAGGGCATCG	0.622000													3	32					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241402806	241402806	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:241402806G>A	ENST00000264039.2	+	4	1008	c.760G>A	c.(760-762)Gtc>Atc	p.V254I		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	254					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CATGAAGCTGGTCTACTGTGC	0.687000													4	74					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724953	158724953	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:158724953G>T	ENST00000368144.2	+	1	444	c.348G>T	c.(346-348)gaG>gaT	p.E116D		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TAATCAGTGAGCAGAAGAGCA	0.493000													14	111					9.31168e-06	1.33134e-05	1	1	0
SSX2IP	117178	broad.mit.edu	37	1	85113117	85113117	+	Nonstop_Mutation	SNP	T	T	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:85113117T>C	ENST00000437941.2	-	13	2115	c.1763A>G	c.(1762-1764)tAg>tGg	p.*588W	SSX2IP_ENST00000605755.1_Nonstop_Mutation_p.*588W|SSX2IP_ENST00000342203.3_Nonstop_Mutation_p.*615W	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	0					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCACATGTCTAAGGTAAGTC	0.368000													9	105					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779663	133779663	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr9:133779663G>T	ENST00000372338.4	-	7	1416	c.1174C>A	c.(1174-1176)Cgt>Agt	p.R392S	FIBCD1_ENST00000448616.1_Missense_Mutation_p.R392S|FIBCD1_ENST00000372337.2_Missense_Mutation_p.R234S|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	392	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)		TCGCTGTCACGGTCCTTGGTG	0.637000													4	87					1	1	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62758632	62758632	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:62758632G>T	ENST00000512091.1	+	9	2282	c.1535G>T	c.(1534-1536)cGt>cTt	p.R512L	LPHN3_ENST00000511324.1_Missense_Mutation_p.R580L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R512L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R580L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R512L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R512L|LPHN3_ENST00000508693.1_Missense_Mutation_p.R580L|LPHN3_ENST00000514996.1_Missense_Mutation_p.R512L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R512L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R580L|LPHN3_ENST00000514591.1_Missense_Mutation_p.R512L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R512L|LPHN3_ENST00000507164.1_Missense_Mutation_p.R580L|LPHN3_ENST00000506746.1_Missense_Mutation_p.R580L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R580L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	512					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTAAGACTCGTCAAGGACAG	0.468000													4	23					1.23904e-05	1.68783e-05	1	1	0
LPP	4026	broad.mit.edu	37	3	188124048	188124048	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr3:188124048C>T	ENST00000312675.4	+	3	386	c.140C>T	c.(139-141)cCg>cTg	p.P47L	LPP_ENST00000543006.1_Missense_Mutation_p.P47L|LPP_ENST00000448637.1_Missense_Mutation_p.P47L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	47	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AAGTTTGCCCCGGTAGTTGCT	0.507000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								7	101					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63430261	63430261	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr18:63430261G>T	ENST00000536984.2	+	2	877	c.183G>T	c.(181-183)atG>atT	p.M61I	CDH7_ENST00000323011.3_Missense_Mutation_p.M61I|CDH7_ENST00000581601.1_3'UTR|CDH7_ENST00000397968.2_Missense_Mutation_p.M61I			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	61	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGGAATACATGGGTTCAGACC	0.448000													3	34					0.115264	0.122335	1	1	0
ACACA	31	broad.mit.edu	37	17	35602115	35602115	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:35602115T>C	ENST00000353139.5	-	20	2957	c.2476A>G	c.(2476-2478)Atg>Gtg	p.M826V	ACACA_ENST00000394406.2_Missense_Mutation_p.M789V|ACACA_ENST00000360679.3_Missense_Mutation_p.M731V|ACACA_ENST00000335166.5_Missense_Mutation_p.M711V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	789					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	acetyl-CoA carboxylase activity|ATP binding|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)	GTTAAGGTCATTACCATCTTC	0.403000													6	108					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94121580	94121580	+	Splice_Site	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr14:94121580G>T	ENST00000553484.1	+	40	6620	c.6465_splice	c.e40-1	p.G2156_splice	UNC79_ENST00000555664.1_Splice_Site_p.G2095_splice|UNC79_ENST00000393151.2_Splice_Site_p.G2134_splice|UNC79_ENST00000256339.4_Splice_Site_p.G1957_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2134						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGTTTTTAGGGTCTAAATAA	0.408000													5	66					0.0215528	0.0234505	1	1	0
CATSPERG	57828	broad.mit.edu	37	19	38858761	38858761	+	Missense_Mutation	SNP	G	G	A	rs138939969	byFrequency	TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr19:38858761G>A	ENST00000409235.3	+	26	3119	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	CATSPERG_ENST00000410018.1_Missense_Mutation_p.E962K|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1002					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATGTCCCACGAGAGCCCAGG	0.597000													4	81					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119672061	119672061	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:119672061C>T	ENST00000371322.5	-	14	1917	c.1856G>A	c.(1855-1857)tGc>tAc	p.C619Y	CUL4B_ENST00000404115.3_Missense_Mutation_p.C637Y|CUL4B_ENST00000336592.6_Missense_Mutation_p.C624Y	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	637					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCAGCTCCGCATTCTATTAA	0.313000													8	58					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390567	158390567	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:158390567G>C	ENST00000314902.2	-	1	89	c.90C>G	c.(88-90)atC>atG	p.I30M		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAGCAGGAAGATAACAAAGA	0.522000													4	75					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105509500	105509500	+	Silent	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:105509500C>T	ENST00000332180.5	+	6	516	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	143					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TTATTTCATTCTTACAGGTAA	0.318000													6	91					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	57					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30557654	30557654	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:30557654G>A	ENST00000448418.2	-	3	557	c.197C>T	c.(196-198)aCa>aTa	p.T66I	MPPED2_ENST00000358117.5_Missense_Mutation_p.T66I	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	66					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						TCTGGAGTGTGTGTCTGAGAT	0.507000													5	42					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406958	35406958	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr8:35406958C>A	ENST00000287272.2	+	2	272	c.252C>A	c.(250-252)ttC>ttA	p.F84L	UNC5D_ENST00000416672.1_Missense_Mutation_p.F84L|UNC5D_ENST00000453357.2_Missense_Mutation_p.F79L|UNC5D_ENST00000404895.2_Missense_Mutation_p.F84L|UNC5D_ENST00000420357.1_Missense_Mutation_p.F84L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	84	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCAGATATTCTTCAAATGCA	0.517000													8	23					0.0477658	0.0513259	1	1	0
MBLAC1	255374	broad.mit.edu	37	7	99725360	99725360	+	Silent	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:99725360C>T	ENST00000398075.2	+	2	741	c.342C>T	c.(340-342)caC>caT	p.H114H		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	114			H -> N (in dbSNP:rs17852946).				hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						TGGGGACCCACGGGCACTCGG	0.731000													2	2					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672585	141672585	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:141672585G>T	ENST00000547270.1	-	1	988	c.905C>A	c.(904-906)gCc>gAc	p.A302D		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	302					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCTCAACTTGGCATTGCCTGA	0.537000													4	62					0.00024832	0.000315878	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118370557	118370557	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:118370557G>C	ENST00000534358.1	+	24	6110	c.6087G>C	c.(6085-6087)atG>atC	p.M2029I	KMT2A_ENST00000389506.5_Missense_Mutation_p.M2026I|KMT2A_ENST00000354520.4_Missense_Mutation_p.M1988I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGGGTCTATGACAATCGACT	0.408000													6	73					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095408	81095408	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr16:81095408C>A	ENST00000378611.4	-	3	661	c.546G>T	c.(544-546)agG>agT	p.R182S	C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.R182S|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	182										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGGCCTTGCCCCTATTAGTGC	0.562000													14	177					6.72482e-11	1.18714e-10	1	1	0
TAPBP	6892	broad.mit.edu	37	6	33281116	33281116	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:33281116G>A	ENST00000434618.2	-	3	692	c.347C>T	c.(346-348)cCg>cTg	p.P116L	TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000426633.2_Missense_Mutation_p.P116L|TAPBP_ENST00000475304.1_Missense_Mutation_p.P116L|TAPBP_ENST00000456592.2_Missense_Mutation_p.P116L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	116					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CAGGGCCCGCGGGCAGTTCTG	0.697000													4	32					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170374	107170374	+	RNA	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr14:107170374G>T	ENST00000390633.2	-	0	54																											CCATGGTGATGAGCTGTGCTC	0.502000													4	48					0.00024832	0.000315878	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18625073	18625073	+	Silent	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:18625073G>T	ENST00000406451.3	+	3	342	c.192G>T	c.(190-192)ctG>ctT	p.L64L	HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000428307.2_Silent_p.L64L|HDAC9_ENST00000441542.2_Silent_p.L64L|HDAC9_ENST00000406072.1_Silent_p.L92L|HDAC9_ENST00000432645.2_Silent_p.L64L|HDAC9_ENST00000405010.3_Silent_p.L64L|HDAC9_ENST00000401921.1_Silent_p.L64L|HDAC9_ENST00000417496.2_Silent_p.L106L|HDAC9_ENST00000524023.1_Silent_p.L33L|HDAC9_ENST00000456174.2_Silent_p.L33L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	64					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	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|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)	AGCAGCTTCTGATAGCAGAGT	0.488000													5	53					3.59834e-05	4.82568e-05	1	1	0
PLCE1	51196	broad.mit.edu	37	10	95849086	95849086	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr10:95849086A>T	ENST00000371375.1	+	1	235	c.235A>T	c.(235-237)Acc>Tcc	p.T79S	PLCE1_ENST00000371385.3_Missense_Mutation_p.T79S|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371380.2_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCCAATTTTACCTTGTTAAA	0.502000													4	68					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200173569	200173569	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:200173569T>C	ENST00000443023.1	-	9	2942	c.1477A>G	c.(1477-1479)Agg>Ggg	p.R493G	SATB2_ENST00000457245.1_Missense_Mutation_p.R552G|SATB2_ENST00000428695.1_Missense_Mutation_p.R434G|SATB2_ENST00000417098.1_Missense_Mutation_p.R552G|SATB2_ENST00000260926.5_Missense_Mutation_p.R552G			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	552						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGACATCCCTCTCATGCTGG	0.582000													6	75					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36064394	36064394	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:36064394A>T	ENST00000282507.3	-	2	254	c.153T>A	c.(151-153)caT>caA	p.H51Q	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Intron|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	51						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTGACATTATGACCGTGAT	0.408000													4	67					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915726	119915726	+	Missense_Mutation	SNP	A	A	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:119915726A>T	ENST00000331113.4	+	1	2005	c.1040A>T	c.(1039-1041)aAg>aTg	p.K347M		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	347					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)					TACGCAGAGAAGGGGTCTTCG	0.498000													11	87					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210561658	210561658	+	Missense_Mutation	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:210561658G>C	ENST00000360351.4	+	9	4911	c.4405G>C	c.(4405-4407)Gaa>Caa	p.E1469Q	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1465Q|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1469					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAAGAAGGCTGAACTTGCTAA	0.348000													4	56					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51923312	51923312	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:51923312T>A	ENST00000371117.3	-	16	1596	c.1321A>T	c.(1321-1323)Act>Tct	p.T441S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T441S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	441					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACTTGGGAGTCTTCTGCTGC	0.547000													16	119					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49854785	49854785	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:49854785G>T	ENST00000376088.3	+	13	2398	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L	CLCN5_ENST00000376091.3_Missense_Mutation_p.R586L|CLCN5_ENST00000376108.3_Missense_Mutation_p.R516L|CLCN5_ENST00000307367.2_Missense_Mutation_p.R516L	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	516	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GGGGTGACTCGGATGACTGTT	0.463000													9	250					2.17888e-05	2.94489e-05	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3328245	3328245	+	Missense_Mutation	SNP	C	C	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:3328245C>T	ENST00000378398.3	+	10	1569	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	PRDM16_ENST00000442529.2_Missense_Mutation_p.P495L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P496L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P496L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.P495L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P495L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P495L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	495	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGCCGCACCCGGGGAGCCTG	0.677000			T	EVI1	"""MDS, AML"""								7	117					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989562	134989562	+	Missense_Mutation	SNP	T	T	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:134989562T>C	ENST00000535938.1	+	9	1135	c.968T>C	c.(967-969)aTt>aCt	p.I323T	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.I323T|SAGE1_ENST00000370709.3_Missense_Mutation_p.I323T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	323										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAACCAGTGATTATTTATTTG	0.403000													21	149					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204865	135204865	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr9:135204865A>C	ENST00000372169.2	-	10	2302	c.2120T>G	c.(2119-2121)aTa>aGa	p.I707R	SETX_ENST00000224140.5_Missense_Mutation_p.I707R|SETX_ENST00000393220.1_Missense_Mutation_p.I707R			Q7Z333	SETX_HUMAN	senataxin	707					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCTTGTACTTATTTTAATTTG	0.368000													7	77					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510220	4510220	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:4510220C>A	ENST00000307632.3	+	1	112	c.90C>A	c.(88-90)tcC>tcA	p.S30S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTGGATCTCCATCCCCTTCT	0.498000													6	137					2.7689e-08	4.56209e-08	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961215	34961215	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:34961215C>G	ENST00000329357.5	+	1	303	c.267C>G	c.(265-267)gaC>gaG	p.D89E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	89										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCAAGCTGACCGCAAAAGCA	0.527000													5	75					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555407	45555407	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr15:45555407C>A	ENST00000347644.3	+	5	476	c.411C>A	c.(409-411)ccC>ccA	p.P137P	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	137					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GTCTGAAGCCCTTTGAAAACT	0.448000													5	62					0.014758	0.0165788	1	1	0
POLE	5426	broad.mit.edu	37	12	133248904	133248904	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:133248904G>A	ENST00000320574.5	-	16	1734	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	POLE_ENST00000535270.1_Missense_Mutation_p.P537L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	564					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAAGGCGGCAGGATTCTAGCA	0.577000								DNA polymerases (catalytic subunits)					3	33					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6599019	6599019	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr4:6599019G>A	ENST00000285599.3	+	8	1273	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A362T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	413					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCTTCGCTGGGCCGTCTCCGA	0.642000													3	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588190	179588190	+	Missense_Mutation	SNP	T	T	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:179588190T>G	ENST00000589042.1	-	74	21861	c.21637A>C	c.(21637-21639)Aac>Cac	p.N7213H	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N5969H|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N6896H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6896	Ig-like 54.						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)			CCAGCGTTGTTAGAAACCACA	0.423000													5	31					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38530677	38530677	+	Silent	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:38530677G>T	ENST00000356264.2	-	5	584	c.369C>A	c.(367-369)acC>acA	p.T123T	AMPH_ENST00000325590.5_Silent_p.T123T|AMPH_ENST00000428293.2_Silent_p.T123T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	123	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCCCCAGGTAGGTATCCAGTG	0.413000													21	170					7.41877e-09	1.25828e-08	1	1	0
PCNT	5116	broad.mit.edu	37	21	47851496	47851496	+	Silent	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr21:47851496G>C	ENST00000359568.5	+	38	8225	c.8118G>C	c.(8116-8118)gtG>gtC	p.V2706V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2706					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GACTCTGCGTGGCACTGAAAC	0.582000													8	51					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815290	147815290	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:147815290G>A	ENST00000361727.3	+	16	2980	c.2464G>A	c.(2464-2466)Gac>Aac	p.D822N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	822	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D822N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACTAGCGCTGACATTTCTTT	0.428000										HNSCC(39;0.1)			9	120					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77296212	77296212	+	Missense_Mutation	SNP	C	C	G			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chrX:77296212C>G	ENST00000341514.6	+	19	3937	c.3782C>G	c.(3781-3783)gCt>gGt	p.A1261G	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1183G|ATP7A_ENST00000350425.4_Missense_Mutation_p.A264G	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1261					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTAAAACAGCTAGATCTATT	0.353000													12	192					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353135	121353135	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr3:121353135C>A	ENST00000314583.3	-	10	913	c.822G>T	c.(820-822)agG>agT	p.R274S	HCLS1_ENST00000428394.2_Missense_Mutation_p.R237S|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	274					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCAGGGCTCCTCTTTGTCA	0.582000													8	45					5.18039e-06	7.59498e-06	1	1	0
PRSS38	339501	broad.mit.edu	37	1	228033263	228033263	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:228033263C>A	ENST00000366757.3	+	4	700	c.676C>A	c.(676-678)Ccc>Acc	p.P226T		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	226	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTACATCATGCCCGACATGCT	0.602000													5	29					0.00116845	0.00143362	1	1	0
KCNA5	3741	broad.mit.edu	37	12	5154969	5154969	+	Silent	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr12:5154969C>A	ENST00000252321.3	+	1	1885	c.1656C>A	c.(1654-1656)gtC>gtA	p.V552V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	552						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						ACAGAGGAGTCCAGCGGAAGG	0.632000													6	24					2.7689e-08	4.56209e-08	1	1	0
RASGRF1	5923	broad.mit.edu	37	15	79320191	79320191	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr15:79320191C>A	ENST00000419573.3	-	9	1547	c.1273G>T	c.(1273-1275)Gat>Tat	p.D425Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.D425Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	425	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTACTTCATCGTGCATTATT	0.547000													4	96					1.23904e-05	1.68783e-05	1	1	0
GPR148	344561	broad.mit.edu	37	2	131486877	131486877	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr2:131486877G>T	ENST00000309926.4	+	1	235	c.153G>T	c.(151-153)tgG>tgT	p.W51C		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	51				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGCTGTACTGGCTTTTCCTTC	0.632000													3	41					0.115264	0.122335	1	1	0
MS4A6E	245802	broad.mit.edu	37	11	60102448	60102448	+	Missense_Mutation	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr11:60102448C>A	ENST00000300182.4	+	1	145	c.80C>A	c.(79-81)cCc>cAc	p.P27H		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	27						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GCAGAGAAACCCGAACCCACC	0.448000													8	84					0.000274275	0.000343838	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56385383	56385383	+	Missense_Mutation	SNP	A	A	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr16:56385383A>C	ENST00000262493.6	+	7	1657	c.811A>C	c.(811-813)Aag>Cag	p.K271Q		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	271					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CTTCCTCAACAAGAAAGATCT	0.512000													4	43					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782740	115782740	+	Missense_Mutation	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:115782740G>T	ENST00000343348.6	-	19	3449	c.2662C>A	c.(2662-2664)Ctg>Atg	p.L888M	SEMA6A_ENST00000510263.1_Missense_Mutation_p.L888M|SEMA6A_ENST00000513137.1_Missense_Mutation_p.L315M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.L365M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.L905M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.L267M	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	888					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)		GGGGGACCCAGGGAGGCCTCC	0.597000													7	111					0.00307968	0.00364921	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11097636	11097636	+	RNA	SNP	G	G	C			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr21:11097636G>C	ENST00000470054.1	-	0	233									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ggcagacaatgccagaaaaac	0.567000													4	44					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349486	100349486	+	RNA	SNP	C	C	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr7:100349486C>A	ENST00000542585.1	+	0	1906				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			AGCCCACAGTCCCCAAAGAAA	0.468000													8	36					1.12685e-05	1.58492e-05	1	1	0
ZNF70	7621	broad.mit.edu	37	22	24086927	24086927	+	Missense_Mutation	SNP	G	G	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr22:24086927G>A	ENST00000341976.3	-	2	861	c.401C>T	c.(400-402)cCa>cTa	p.P134L		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGCTGGTTGTGGGGTTCTGTG	0.577000													5	104					0	0	1	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242161821	242161821	+	Silent	SNP	G	G	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr1:242161821G>T	ENST00000357246.3	-	3	280	c.216C>A	c.(214-216)atC>atA	p.I72I		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	72					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTACCGGATGATGCTGAGGA	0.622000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	54					5.3912e-06	7.77232e-06	1	1	0
SGCZ	137868	broad.mit.edu	37	8	13959901	13959901	+	Missense_Mutation	SNP	T	T	A			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr8:13959901T>A	ENST00000382080.1	-	7	1443	c.728A>T	c.(727-729)cAa>cTa	p.Q243L	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q196L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	230					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)		TTCTGTAGATTGCAGATGGAG	0.507000													8	74					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147008373	147008373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr5:147008373delT	ENST00000265272.5	-	16	2403	c.1936delA	c.(1936-1938)gafs	p.R646fs	JAKMIP2_ENST00000507386.1_Frame_Shift_Del_p.R625fs|JAKMIP2_ENST00000333010.6_Frame_Shift_Del_p.R604fs	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	646						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)			TCTTCATTTCTTAAATTCTGT	0.413													9	41	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cag>ca	p.QP744del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	744	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749													3	3	---	---	---	---					
LONRF1	91694	broad.mit.edu	37	8	12594296	12594297	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr8:12594296_12594297insT	ENST00000398246.3	-	6	1433_1434	c.1364_1365insA	c.(1363-1365)agafs	p.R455fs	LONRF1_ENST00000533751.1_Frame_Shift_Ins_p.R98fs	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	455					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TACAGACTTCATTGGGAGTTTC	0.317													11	90	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29585418	29585418	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NJ-A55A-01A-11D-A25L-08	TCGA-NJ-A55A-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8CF03D87-C1D5-4309-A762-7079DF456D45	5F52CF1B-9BF2-4FAE-B224-32127B784225	g.chr17:29585418delC	ENST00000358273.4	+	32	4613	c.4230delC	c.(4228-4230)ttfs	p.F1410fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F1389fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1410	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGCCATGTTCCTCAGATTTA	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	116	---	---	---	---