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
MMD	23531	broad.mit.edu	37	17	53471758	53471758	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:53471758C>A	ENST00000262065.3	-	7	950	c.654G>T	c.(652-654)gtG>gtT	p.V218V		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	218					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.V218V(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGTAATGCACTGCAGCTG	0.443000													62	18					6.2918e-36	1.21654e-35	0.048971	1	0
CLEC4F	165530	broad.mit.edu	37	2	71046978	71046978	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:71046978C>A	ENST00000272367.2	-	2	183	c.107G>T	c.(106-108)aGg>aTg	p.R36M	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R36M	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	36					endocytosis	integral to membrane	receptor activity|sugar binding	p.R36M(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGAACGAGCCTCGGTATCTT	0.567000													18	9					3.51602e-12	4.96744e-12	0.049695	1	0
LRFN2	57497	broad.mit.edu	37	6	40399866	40399866	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:40399866C>A	ENST00000338305.6	-	2	1529	c.987G>T	c.(985-987)ctG>ctT	p.L329L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	329	Ig-like.					cell junction|integral to membrane|postsynaptic membrane		p.L329L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTTCCCTACCAGGCGGTCAT	0.587000													17	18					7.81268e-19	1.31929e-18	0.033300	1	0
ARHGAP6	395	broad.mit.edu	37	X	11682515	11682515	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:11682515C>A	ENST00000337414.4	-	1	1306	c.434G>T	c.(433-435)gGg>gTg	p.G145V	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.G145V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.G145V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	145					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.G145V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACTGGCTGGCCCGGCCAGGAC	0.617000													15	0					7.93312e-07	9.59773e-07	0.020292	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433556	73433556	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:73433556G>T	ENST00000263666.4	-	10	2275	c.2161C>A	c.(2161-2163)Ctg>Atg	p.L721M	PDZRN3_ENST00000462146.2_Missense_Mutation_p.L378M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.L378M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L438M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L443M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	721							ubiquitin-protein ligase activity|zinc ion binding	p.L721M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGTTGTGCAGCATCCAGGAC	0.597000													14	24					0.000219431	0.00024339	0.020292	1	0
SLC9A5	6553	broad.mit.edu	37	16	67298319	67298319	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:67298319T>G	ENST00000299798.11	+	13	1972	c.1907T>G	c.(1906-1908)gTc>gGc	p.V636G		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	636					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.V636G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GACAAGGAGGTCTTCCAGCAG	0.587000													5	25					0	0	0.105934	0	0
GPR112	139378	broad.mit.edu	37	X	135485479	135485479	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:135485479G>A	ENST00000394143.1	+	22	8943	c.8652G>A	c.(8650-8652)ccG>ccA	p.P2884P	GPR112_ENST00000394141.1_Silent_p.P2679P|GPR112_ENST00000287534.4_Silent_p.P2637P|GPR112_ENST00000412101.1_Silent_p.P2679P|GPR112_ENST00000370652.1_Silent_p.P2884P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2884					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P2884P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAACTCCGTTGTAAGTAC	0.498000													7	4					0	0	0.029380	0	0
HDC	3067	broad.mit.edu	37	15	50555433	50555433	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:50555433C>A	ENST00000267845.3	-	2	605	c.204_splice	c.e2+1	p.G68_splice	HDC_ENST00000543581.1_Splice_Site_p.G68_splice	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	68					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.G68V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTGTCTCACCCCAGGCATGAT	0.587000													23	100					1.10513e-12	1.57525e-12	0.069288	1	0
DNAJC10	54431	broad.mit.edu	37	2	183584886	183584886	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:183584886T>C	ENST00000264065.6	+	4	772	c.357T>C	c.(355-357)cgT>cgC	p.R119R	DNAJC10_ENST00000537515.1_Silent_p.R119R|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	119					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.R119R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTATTATCGTTATGATTTTG	0.323000													23	54					0	0	0.099896	0	0
RFWD3	55159	broad.mit.edu	37	16	74685929	74685929	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:74685929C>A	ENST00000361070.4	-	3	707	c.610G>T	c.(610-612)Gta>Tta	p.V204L	RFWD3_ENST00000571750.1_Missense_Mutation_p.V204L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	204					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.V204L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TCTTCAGATACAGGATTCCTA	0.488000													11	46					1.58986e-06	1.89835e-06	0.069234	1	0
SYNPO2	171024	broad.mit.edu	37	4	119979067	119979067	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:119979067G>T	ENST00000307142.4	+	5	3960	c.3764G>T	c.(3763-3765)aGg>aTg	p.R1255M	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R1255M(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACACCCAAGGGGATGGAGA	0.403000													14	28					3.35478e-16	5.32768e-16	0.024245	1	0
LARP1	23367	broad.mit.edu	37	5	154182849	154182849	+	Splice_Site	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:154182849G>A	ENST00000336314.4	+	12	1902		c.e12-1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1								protein binding|RNA binding	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GACCTCTGCAGCAAGAAGTCG	0.517000													3	58					0	0	0.004672	0	0
RTTN	25914	broad.mit.edu	37	18	67684766	67684766	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:67684766C>A	ENST00000255674.6	-	46	6584	c.6298G>T	c.(6298-6300)Ggc>Tgc	p.G2100C	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2100							binding	p.G2100C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTAGACAGCCATCAAGCCTC	0.378000													17	32					4.14922e-12	5.81072e-12	0.028581	1	0
SLC45A1	50651	broad.mit.edu	37	1	8384429	8384429	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:8384429C>A	ENST00000471889.1	+	2	425	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	SLC45A1_ENST00000377479.2_Missense_Mutation_p.L48I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L14I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	14					carbohydrate transport	integral to membrane	symporter activity	p.L14I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGATGCCCTCTTCCCCAG	0.657000													31	45					1.39806e-14	2.13037e-14	0.037714	1	0
SETD2	29072	broad.mit.edu	37	3	47163563	47163563	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:47163563T>A	ENST00000409792.3	-	3	2605	c.2563A>T	c.(2563-2565)Agc>Tgc	p.S855C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	855					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.S352C(1)|p.S855C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTACCGATGCTCTGCTTATAT	0.348000			"""N, F, S, Mis"""		clear cell renal carcinoma								29	45					0	0	0.108266	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47607618	47607618	+	Silent	SNP	C	C	T	rs146960510		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:47607618C>T	ENST00000371917.4	+	21	2856	c.2856C>T	c.(2854-2856)tcC>tcT	p.S952S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	952					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.S952S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTCGCTTCTCCCTACTCACAG	0.493000													11	37					0	0	0.080935	0	0
PAFAH2	5051	broad.mit.edu	37	1	26310565	26310565	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:26310565C>A	ENST00000374282.3	-	6	603	c.424G>T	c.(424-426)Gca>Tca	p.A142S	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.A142S	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	142					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.A142S(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGTGGTTGCCGCTGACCGG	0.498000													31	122					4.31634e-10	5.80348e-10	0.050027	1	0
HOXA13	3209	broad.mit.edu	37	7	27238027	27238027	+	Nonsense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:27238027A>C	ENST00000222753.4	-	2	985	c.957T>G	c.(955-957)taT>taG	p.Y319*		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	319					skeletal system development	nucleus	sequence-specific DNA binding	p.Y319*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCCCCCTCCTATAGGAGCTGG	0.512000			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	72					0	0	0.083992	0	0
BRD1	23774	broad.mit.edu	37	22	50192297	50192297	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:50192297G>A	ENST00000216267.8	-	4	2180	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	BRD1_ENST00000404034.1_Missense_Mutation_p.T565I|BRD1_ENST00000404760.1_Missense_Mutation_p.T565I|BRD1_ENST00000542442.1_Missense_Mutation_p.T258I|BRD1_ENST00000457780.2_Missense_Mutation_p.T565I|BRD1_ENST00000342989.5_Missense_Mutation_p.T160I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	565					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.T160I(1)|p.T565I(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCAGCGGGGTCAGCCGCAG	0.657000													5	11					0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	113347651	113347651	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:113347651C>A	ENST00000297405.5	-	45	7316	c.7072G>T	c.(7072-7074)Gct>Tct	p.A2358S	CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288S|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2358	CUB 13.					integral to membrane|plasma membrane		p.A2358S(1)|p.A2318S(1)|p.A2358T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATTCCAAAGCGGTATTGCCA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	30					7.11191e-15	1.09414e-14	0.054565	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138981	126138981	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:126138981A>G	ENST00000299308.3	+	9	2970	c.2962A>G	c.(2962-2964)Agt>Ggt	p.S988G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S500G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	988						integral to membrane		p.S988G(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTGAATGGCAGTTCCCAGAA	0.448000													18	4					0	0	0.038395	0	0
HTR1A	3350	broad.mit.edu	37	5	63256879	63256879	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:63256879C>T	ENST00000323865.3	-	1	901	c.668G>A	c.(667-669)cGc>cAc	p.R223H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	223					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R223H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GATGCGGAAGCGCGCAGCTCG	0.567000													41	68					0	0	0.104719	0	0
MYT1	4661	broad.mit.edu	37	20	62850370	62850370	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:62850370A>T	ENST00000536311.1	+	12	2398	c.2034A>T	c.(2032-2034)ccA>ccT	p.P678P	MYT1_ENST00000328439.1_Silent_p.P651P|MYT1_ENST00000360149.4_Silent_p.P353P			Q01538	MYT1_HUMAN	myelin transcription factor 1	651					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P651P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCACGAAGCCACAGGACCTCC	0.587000													10	18					0	0	0.069234	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175792	140175792	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140175792C>A	ENST00000526136.1	+	1	1243	c.1243C>A	c.(1243-1245)Cgc>Agc	p.R415S	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R415S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R415S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1												p.R415S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAGCGT	0.627000													71	89					3.58576e-35	6.87092e-35	0.048971	1	0
SLITRK5	26050	broad.mit.edu	37	13	88329901	88329901	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:88329901C>A	ENST00000325089.6	+	2	2477	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P512H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	753						integral to membrane		p.P753H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAATACATCCCCCACCCACTG	0.652000													12	41					4.3838e-07	5.3339e-07	0.105934	1	0
PLXNA2	5362	broad.mit.edu	37	1	208206713	208206713	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:208206713C>A	ENST00000367033.3	-	28	5763	c.5006G>T	c.(5005-5007)gGc>gTc	p.G1669V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1669					axon guidance	integral to membrane|intracellular|plasma membrane		p.G1669V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATCTTGCTGCCCCGGTCACC	0.602000													27	29					8.58068e-18	1.40811e-17	0.034045	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927849	13927849	+	RNA	SNP	T	T	C	rs146845913	by1000genomes	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:13927849T>C	ENST00000602743.1	-	0	224																											GTGTTGCTTCTCCACTTTGAG	0.552000													3	4					0	0	0.047766	0	0
CLVS1	157807	broad.mit.edu	37	8	62212569	62212569	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:62212569C>G	ENST00000519846.1	+	3	655	c.183C>G	c.(181-183)atC>atG	p.I61M	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.I61M			Q8IUQ0	CLVS1_HUMAN	clavesin 1	61					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.I61M(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACATGATCATCACCAGGCCTG	0.473000													26	60					0	0	0.091800	0	0
CCDC178	374864	broad.mit.edu	37	18	30903460	30903460	+	Silent	SNP	G	G	T	rs142817345		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:30903460G>T	ENST00000383096.3	-	11	1199	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	CCDC178_ENST00000579947.1_Silent_p.A339A|CCDC178_ENST00000403303.1_Silent_p.A339A|CCDC178_ENST00000583930.1_Silent_p.A339A|CCDC178_ENST00000402325.1_Silent_p.A339A|CCDC178_ENST00000300227.8_Silent_p.A339A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Silent_p.A339A					coiled-coil domain containing 178									p.A339E(2)									CTTACTTGTAGGCCTCTATGG	0.284000													5	17					0.00116845	0.00125471	0.021553	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1994018	1994018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:1994018G>T	ENST00000382722.5	-	11	1550	c.1188C>A	c.(1186-1188)tgC>tgA	p.C396*	CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.C396*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.C396*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.C312*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.C332*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.C332*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	396	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.C396*(2)		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)		TGGCCTGGTTGCAGAGGCTTC	0.612000													29	8					1.50538e-07	1.86714e-07	0.030593	1	0
KDR	3791	broad.mit.edu	37	4	55976632	55976632	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:55976632A>G	ENST00000263923.4	-	9	1488	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	398	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.V398A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			33	30					0	0	0.086207	0	0
CELF3	11189	broad.mit.edu	37	1	151680397	151680397	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:151680397G>T	ENST00000290583.4	-	6	1294	c.501C>A	c.(499-501)agC>agA	p.S167R	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.S167R|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	167	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	p.S167R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TCACCACCAGGCTGGACGAGG	0.642000													5	21					0.000602214	0.000655471	0.014758	1	0
ACACB	32	broad.mit.edu	37	12	109680290	109680290	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:109680290C>T	ENST00000338432.7	+	37	5190	c.5071C>T	c.(5071-5073)Ctg>Ttg	p.L1691L	ACACB_ENST00000377848.3_Silent_p.L1691L|ACACB_ENST00000543201.1_Silent_p.L357L|ACACB_ENST00000377854.5_Silent_p.L1621L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1691					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L1691L(1)|p.L357L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCACGGGATGCTGATCAATAC	0.532000													3	74					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	3265713	3265713	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:3265713C>T	ENST00000602557.1	-	15	2337	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G	CSMD1_ENST00000400186.3_Silent_p.G594G|CSMD1_ENST00000602723.1_Silent_p.G594G|CSMD1_ENST00000520002.1_Silent_p.G594G|CSMD1_ENST00000537824.1_Silent_p.G593G|CSMD1_ENST00000539096.1_Silent_p.G593G|CSMD1_ENST00000542608.1_Silent_p.G593G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	594	CUB 4.					integral to membrane		p.G322G(1)|p.G593G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGAATAATCCCAGATGATG	0.373000													5	9					0	0	0.038147	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707130	242707130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:242707130G>T	ENST00000321264.4	+	10	1521	c.1312G>T	c.(1312-1314)Ggt>Tgt	p.G438C	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G304C	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	438					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.G438C(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCAGGAGATGGTAACCTGCA	0.692000													11	41					4.36969e-10	5.8629e-10	0.105934	1	0
DICER1	23405	broad.mit.edu	37	14	95579450	95579450	+	Silent	SNP	T	T	G	rs12437122		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:95579450T>G	ENST00000526495.1	-	14	2310	c.2019A>C	c.(2017-2019)tcA>tcC	p.S673S	DICER1_ENST00000343455.3_Silent_p.S673S|DICER1_ENST00000541352.1_Silent_p.S673S|DICER1_ENST00000393063.1_Silent_p.S673S|DICER1_ENST00000527414.1_Silent_p.S673S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	673	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCGAAGAGGTGAGTTAATTG	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	89					0	0	0.033300	0	0
ZNF648	127665	broad.mit.edu	37	1	182027050	182027050	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:182027050G>T	ENST00000339948.3	-	2	303	c.96C>A	c.(94-96)aaC>aaA	p.N32K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N32K(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTCTCTAAGTTCATGCTCA	0.572000													46	51					1.03325e-14	1.582e-14	0.042209	1	0
F13A1	2162	broad.mit.edu	37	6	6318847	6318847	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:6318847G>A	ENST00000264870.3	-	2	316	c.51C>T	c.(49-51)ccC>ccT	p.P17P		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	17					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.P17P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TAGAGTTATTGGGTGGAACTG	0.502000													28	108					0	0	0.050027	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768253	77768253	+	Silent	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:77768253T>A	ENST00000521891.2	+	10	9544	c.9096T>A	c.(9094-9096)atT>atA	p.I3032I	ZFHX4_ENST00000050961.6_Silent_p.I2987I|ZFHX4_ENST00000455469.2_Silent_p.I2987I|ZFHX4_ENST00000518282.1_Silent_p.I3006I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2987						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I3016I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGCACATTTCAAAAGTGA	0.532000										HNSCC(33;0.089)			21	43					0	0	0.062417	0	0
CNBD2	140894	broad.mit.edu	37	20	34596256	34596256	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:34596256C>A	ENST00000373973.3	+	9	1181	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	CNBD2_ENST00000349339.1_Silent_p.I336I|CNBD2_ENST00000538900.1_Silent_p.I336I					cyclic nucleotide binding domain containing 2									p.I336I(1)									AATTCCAGATCAAATCATATC	0.408000													39	96					9.73076e-26	1.77427e-25	0.092188	1	0
MXRA5	25878	broad.mit.edu	37	X	3229560	3229560	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:3229560A>T	ENST00000217939.6	-	7	6838	c.6684T>A	c.(6682-6684)ggT>ggA	p.G2228G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2228	Ig-like C2-type 6.					extracellular region		p.G2228G(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTAGTCATCACCAACCTTAT	0.498000													35	9					0	0	0.074837	0	0
WDR3	10885	broad.mit.edu	37	1	118477140	118477140	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:118477140C>T	ENST00000349139.4	+	3	263	c.216C>T	c.(214-216)tgC>tgT	p.C72C	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	72						nuclear membrane|nucleolus		p.C72C(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTTGCTTATGCCCCTCCCCAG	0.428000													4	70					0	0	0.009096	0	0
NTRK3	4916	broad.mit.edu	37	15	88679745	88679745	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:88679745C>G	ENST00000394480.1	-	8	1039	c.718G>C	c.(718-720)Gat>Cat	p.D240H	NTRK3_ENST00000540489.2_Missense_Mutation_p.D240H|NTRK3_ENST00000317501.3_Missense_Mutation_p.D240H|NTRK3_ENST00000542733.2_Missense_Mutation_p.D142H|NTRK3_ENST00000357724.2_Missense_Mutation_p.D240H|NTRK3_ENST00000557856.1_Missense_Mutation_p.D240H|NTRK3_ENST00000558676.1_Missense_Mutation_p.D240H|NTRK3_ENST00000355254.2_Missense_Mutation_p.D240H|NTRK3_ENST00000360948.2_Missense_Mutation_p.D240H	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	240	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D240H(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGTCCACATCAGGAAGGGGT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	13					0	0	0.028581	0	0
LRGUK	136332	broad.mit.edu	37	7	133881855	133881855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:133881855G>T	ENST00000285928.2	+	13	1612	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	515	Guanylate kinase-like.						ATP binding|kinase activity	p.E515*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TATGGAAATAGAAGTAAGTGT	0.348000													10	39					1.58986e-06	1.89835e-06	0.069234	1	0
MAST3	23031	broad.mit.edu	37	19	18255441	18255441	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:18255441G>A	ENST00000262811.5	+	22	2663	c.2663G>A	c.(2662-2664)gGc>gAc	p.G888D	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	888	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.G910D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGTGGTGGCGGCAGTGGGGGC	0.677000													3	50					0	0	0.004672	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032319	142032319	+	RNA	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:142032319G>T	ENST00000547918.2	+	0	172																											TCCAATTTCAGGTCATAATGC	0.507000													6	8					0.00198382	0.00210554	0.029380	1	0
VASN	114990	broad.mit.edu	37	16	4431769	4431769	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:4431769C>T	ENST00000304735.3	+	2	1046	c.891C>T	c.(889-891)cgC>cgT	p.R297R	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	297						extracellular region|integral to membrane		p.R297R(1)		breast(1)|lung(3)|prostate(1)|skin(1)	6						CAGCTGCCCGCAACCCCTTCA	0.692000													9	31					0	0	0.080935	0	0
ZNF416	55659	broad.mit.edu	37	19	58084849	58084849	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:58084849C>T	ENST00000196489.3	-	4	645	c.423G>A	c.(421-423)aaG>aaA	p.K141K		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K141K(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CACTATGATGCTTCTGGTCCT	0.517000													24	6					0	0	0.091800	0	0
MYO9A	4649	broad.mit.edu	37	15	72208825	72208825	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:72208825T>C	ENST00000356056.5	-	19	3043	c.2571A>G	c.(2569-2571)ctA>ctG	p.L857L	MYO9A_ENST00000444904.1_Silent_p.L838L|MYO9A_ENST00000564571.1_Silent_p.L857L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.L857L|MYO9A_ENST00000566885.1_Silent_p.L477L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	857					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.L857L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTACTTCTAGCAAGTGCT	0.338000													28	33					0	0	0.108266	0	0
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:7577100T>C	ENST00000420246.2	-	8	970	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000269305.4_Missense_Mutation_p.R280G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCGGTCTCTCCCAGGACAG	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	6					0	0	0.043863	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90670738	90670738	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:90670738C>T	ENST00000371927.3	+	5	1348	c.390C>T	c.(388-390)aaC>aaT	p.N130N	STAMBPL1_ENST00000371924.1_Silent_p.N130N|STAMBPL1_ENST00000371926.3_Silent_p.N130N			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	130							metal ion binding|metallopeptidase activity|protein binding	p.N130N(2)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAATATAACGTAGAATACC	0.269000													13	53					0	0	0.020292	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226373	50226373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:50226373C>A	ENST00000284509.6	-	15	1435	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E432*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	432					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	p.E432*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCCACAGGCTCTTTTTCCTGT	0.348000													13	37					5.50884e-06	6.41028e-06	0.093190	1	0
COL15A1	1306	broad.mit.edu	37	9	101748161	101748161	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:101748161A>T	ENST00000375001.3	+	3	838	c.415A>T	c.(415-417)Acg>Tcg	p.T139S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	139	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.T139S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCTACTACACGGAGCCAGG	0.612000													14	49					0	0	0.020292	0	0
TRAV25	28658	broad.mit.edu	37	14	22580379	22580379	+	RNA	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:22580379C>T	ENST00000390454.2	+	0	80																											GAGGGAGATGCTACTCATCAC	0.428000													16	64					0	0	0.043863	0	0
MUC16	94025	broad.mit.edu	37	19	9062525	9062525	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:9062525G>A	ENST00000397910.4	-	3	25124	c.24921C>T	c.(24919-24921)acC>acT	p.T8307T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8309	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T8307T(2)|p.T3940T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGTCTGTGGTTATCACCA	0.498000													10	35					0	0	0.069234	0	0
ERC1	23085	broad.mit.edu	37	12	1399138	1399138	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:1399138G>C	ENST00000397203.2	+	15	3146	c.2740G>C	c.(2740-2742)Gca>Cca	p.A914P	ERC1_ENST00000543086.3_Missense_Mutation_p.A886P|ERC1_ENST00000355446.5_Missense_Mutation_p.A914P|ERC1_ENST00000589028.1_Missense_Mutation_p.A914P|ERC1_ENST00000546231.2_Missense_Mutation_p.A918P|ERC1_ENST00000360905.4_Missense_Mutation_p.A914P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	914					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.A914P(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TAATCTTCGGGCAGAGAGAAG	0.428000													14	95					0	0	0.028581	0	0
BRE	9577	broad.mit.edu	37	2	28521328	28521328	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:28521328G>T	ENST00000344773.2	+	11	1196	c.1058G>T	c.(1057-1059)tGg>tTg	p.W353L	BRE_ENST00000379632.2_Missense_Mutation_p.W353L|BRE_ENST00000342045.2_Missense_Mutation_p.W353L|BRE_ENST00000379624.1_Missense_Mutation_p.W353L|BRE_ENST00000361704.2_Missense_Mutation_p.W353L	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	353	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.W353F(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGCCCCAGATGGGATGGAAAT	0.443000													43	46					1.57019e-19	2.70141e-19	0.098360	1	0
PLCL1	5334	broad.mit.edu	37	2	198950857	198950857	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:198950857T>C	ENST00000428675.1	+	2	3014	c.2616T>C	c.(2614-2616)taT>taC	p.Y872Y	PLCL1_ENST00000437704.2_Silent_p.Y774Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	872					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y872Y(1)|p.Y774Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCGGGAATATACCATGCTCA	0.408000													23	10					0	0	0.083992	0	0
COL22A1	169044	broad.mit.edu	37	8	139788254	139788254	+	Splice_Site	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:139788254C>G	ENST00000303045.6	-	16	2205		c.e16-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity	p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGGAGACCCTGGGGGACAA	0.507000										HNSCC(7;0.00092)			18	92					0	0	0.038395	0	0
COL11A1	1301	broad.mit.edu	37	1	103548452	103548452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:103548452G>T	ENST00000358392.2	-	2	500	c.183C>A	c.(181-183)tgC>tgA	p.C61*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.C61*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.C61*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.C61*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	61	TSP N-terminal.				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	p.C61*(2)		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)		TTCTGTTTGTGCAAAATCCCG	0.363000													27	51					1.50538e-07	1.86714e-07	0.030593	1	0
OR13A1	79290	broad.mit.edu	37	10	45799823	45799823	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:45799823G>A	ENST00000553795.1	-	4	356	c.48C>T	c.(46-48)ccC>ccT	p.P16P	OR13A1_ENST00000374401.2_Silent_p.P16P|OR13A1_ENST00000536058.1_Silent_p.P16P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P16P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCCTTGGGCTGGGACGGGTTT	0.512000													41	44					0	0	0.111260	0	0
BRINP1	1620	broad.mit.edu	37	9	121976387	121976387	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:121976387C>A	ENST00000265922.3	-	6	1193	c.732G>T	c.(730-732)caG>caT	p.Q244H	DBC1_ENST00000373964.2_Missense_Mutation_p.Q244H	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		244	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.Q244H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCAAGGCCGACTGGACAAACT	0.473000													6	23					0.0215528	0.0221054	0.021553	1	0
EFHC1	114327	broad.mit.edu	37	6	52343958	52343958	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:52343958G>T	ENST00000371068.5	+	8	1505	c.1402G>T	c.(1402-1404)Ggc>Tgc	p.G468C	EFHC1_ENST00000433625.2_Missense_Mutation_p.G377C|EFHC1_ENST00000538167.1_Missense_Mutation_p.G449C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	468	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.G468C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAAGTACCTTGGCAGGACTAA	0.453000													20	81					8.10497e-08	1.02311e-07	0.055883	1	0
ZIC4	84107	broad.mit.edu	37	3	147108946	147108946	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:147108946G>T	ENST00000383075.3	-	4	1288	c.776C>A	c.(775-777)aCt>aAt	p.T259N	ZIC4_ENST00000525172.2_Missense_Mutation_p.T309N|ZIC4_ENST00000491672.1_Missense_Mutation_p.T53N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.T297N|ZIC4_ENST00000484399.1_Missense_Mutation_p.T259N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T259N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	259						nucleus	DNA binding|zinc ion binding	p.T259N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTTGTCGCTAGTGTGCACGTG	0.637000													12	22					3.07112e-06	3.63984e-06	0.080935	1	0
OR51E1	143503	broad.mit.edu	37	11	4674333	4674333	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:4674333G>T	ENST00000396952.5	+	2	1227	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D192Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGGCCTGTGATGATATCCG	0.498000													23	106					4.22769e-11	5.79384e-11	0.030593	1	0
CACNA1C	775	broad.mit.edu	37	12	2794913	2794913	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:2794913A>T	ENST00000399655.1	+	44	5850	c.5585A>T	c.(5584-5586)cAg>cTg	p.Q1862L	CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q1910L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1890L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1933L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1870L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1933L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1868L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1879L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1897L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1881L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1870L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1897L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1887L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1882L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1903L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1881L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1881L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1945					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.Q1897L(1)|p.Q1397L(1)|p.Q1903L(1)|p.Q1910L(1)|p.Q1975L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTCCTACCAGGATGACGAA	0.582000													31	18					0	0	0.041601	0	0
RICTOR	253260	broad.mit.edu	37	5	38963016	38963016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:38963016G>A	ENST00000357387.3	-	17	1558	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.Q510*	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	510					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.Q510*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CGGAGATACTGATCCCGTTTC	0.363000													33	74					0	0	0.086207	0	0
C11orf52	91894	broad.mit.edu	37	11	111796798	111796798	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:111796798G>A	ENST00000278601.5	+	4	343	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	83								p.V83M(1)		lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TGACATTCAAGTGTGCAGCCG	0.527000													19	12					0	0	0.062417	0	0
LPA	4018	broad.mit.edu	37	6	160998325	160998325	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:160998325G>T	ENST00000447678.1	-	29	4594	c.4474C>A	c.(4474-4476)Cca>Aca	p.P1492T	LPA_ENST00000316300.5_Missense_Mutation_p.P1492T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4000	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P1492T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCTCAGGTGGTGCTGAAATT	0.433000													27	14					1.5548e-18	2.6049e-18	0.108266	1	0
ZNF449	203523	broad.mit.edu	37	X	134494750	134494750	+	Silent	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:134494750A>C	ENST00000339249.4	+	5	1446	c.1306A>C	c.(1306-1308)Aga>Cga	p.R436R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R436R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACCTCATAGATGTCATAA	0.353000													50	16					0	0	0.048971	0	0
REG1A	5967	broad.mit.edu	37	2	79348687	79348687	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:79348687G>T	ENST00000233735.1	+	3	167		c.e3-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.?(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCTTTTTCAGGCCAAGAGGC	0.493000													55	176					1.1362e-29	2.12622e-29	0.048971	1	0
SLC36A3	285641	broad.mit.edu	37	5	150657056	150657056	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:150657056G>A	ENST00000335230.3	-	10	1722	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	SLC36A3_ENST00000377713.3_Silent_p.I478I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	437						integral to membrane		p.I437I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGGCCCACGATGCTAATCA	0.522000													35	49					0	0	0.059317	0	0
LPAR6	10161	broad.mit.edu	37	13	48986493	48986493	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:48986493T>A	ENST00000378434.4	-	7	1691	c.67A>T	c.(67-69)Atg>Ttg	p.M23L	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M23L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	23						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)|p.C22_M23>*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ATGCTGAACATGCACCCATAC	0.403000													26	24					0	0	0.108266	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075801	145075801	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:145075801C>G	ENST00000369359.4	-	1	100	c.62G>C	c.(61-63)cGc>cCc	p.R21P	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21P|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R21P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R21P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCGGGACGCGCGACAGCAGCA	0.701000			T	PDGFRB	MPD								7	75					0	0	0.047766	0	0
USP43	124739	broad.mit.edu	37	17	9613391	9613391	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:9613391G>T	ENST00000570827.2	+	13	2271	c.1197G>T	c.(1195-1197)cgG>cgT	p.R399R	USP43_ENST00000285199.6_Silent_p.R710R|USP43_ENST00000570475.1_Silent_p.R705R			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	710					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R711R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ATCAGAAGCGGAACAGCATCC	0.542000													24	10					1.64293e-13	2.39517e-13	0.083992	1	0
OR4C46	119749	broad.mit.edu	37	11	51516152	51516152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:51516152C>A	ENST00000328188.1	+	1	871	c.871C>A	c.(871-873)Cag>Aag	p.Q291K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q291K(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAAGAATGCCCAGATGAAAAA	0.358000													5	37					4.68919e-08	5.99018e-08	0.069234	1	0
GPR37	2861	broad.mit.edu	37	7	124404849	124404849	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:124404849T>A	ENST00000303921.2	-	1	832	c.182A>T	c.(181-183)aAt>aTt	p.N61I		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	61						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	p.N61I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTTGCAGAATTTCCCGGTCC	0.687000													21	14					0	0	0.062417	0	0
LPO	4025	broad.mit.edu	37	17	56343529	56343529	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:56343529T>A	ENST00000262290.4	+	11	1851	c.1535T>A	c.(1534-1536)cTg>cAg	p.L512Q	LPO_ENST00000543544.1_Missense_Mutation_p.L453Q|LPO_ENST00000582328.1_Missense_Mutation_p.L429Q|LPO_ENST00000421678.2_Missense_Mutation_p.L429Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	512					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L512Q(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ATTGATCCTCTGGTGCGGGGC	0.527000													10	4					0	0	0.069234	0	0
EPHA4	2043	broad.mit.edu	37	2	222298988	222298988	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:222298988C>A	ENST00000281821.2	-	14	2411	c.2370G>T	c.(2368-2370)tgG>tgT	p.W790C	EPHA4_ENST00000392071.4_Missense_Mutation_p.W739C|EPHA4_ENST00000409938.1_Missense_Mutation_p.W790C|EPHA4_ENST00000409854.1_Missense_Mutation_p.W790C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.W790C(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTGGCGCAGTCCACCGGATAG	0.448000													23	73					9.86323e-18	1.61444e-17	0.091800	1	0
OR9A4	130075	broad.mit.edu	37	7	141619191	141619191	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:141619191T>C	ENST00000548136.1	+	1	575	c.516T>C	c.(514-516)aaT>aaC	p.N172N	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N172N(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCAAATCAAATGTGGTGAACA	0.393000													39	88					0	0	0.092188	0	0
DKKL1	27120	broad.mit.edu	37	19	49877992	49877992	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:49877992A>G	ENST00000221498.2	+	5	841	c.436A>G	c.(436-438)Aag>Gag	p.K146E	DKKL1_ENST00000594268.1_Missense_Mutation_p.K4E|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	146					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	p.K146E(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GATGGAGGAGAAGGAGGCCCT	0.592000													37	21					0	0	0.098360	0	0
KRT1	3848	broad.mit.edu	37	12	53071971	53071971	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:53071971C>T	ENST00000252244.3	-	3	901	c.843G>A	c.(841-843)gaG>gaA	p.E281E		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	281	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.E281E(1)|p.E281D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CAAATTCATTCTCTGCATTTG	0.403000													27	11					0	0	0.054565	0	0
KCNA5	3741	broad.mit.edu	37	12	5154280	5154280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:5154280C>A	ENST00000252321.3	+	1	1196	c.967C>A	c.(967-969)Ccc>Acc	p.P323T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	323						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P323T(1)		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						CCTGGCCGACCCCTTCTTCAT	0.697000													23	105					1.22574e-08	1.59446e-08	0.069288	1	0
LPAR6	10161	broad.mit.edu	37	13	48986494	48986494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:48986494G>T	ENST00000378434.4	-	7	1690	c.66C>A	c.(64-66)tgC>tgA	p.C22*	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Nonsense_Mutation_p.C22*	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	22						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)|p.C22_M23>*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TGCTGAACATGCACCCATACA	0.408000													27	24					1.77063e-15	2.77746e-15	0.108266	1	0
SPAG11A	653423	broad.mit.edu	37	8	7718286	7718286	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:7718286G>T	ENST00000326625.5	+	2	227	c.174G>T	c.(172-174)agG>agT	p.R58S	SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000454911.2_3'UTR					sperm associated antigen 11A											central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTGGAATAGGTGTTGCGTAT	0.438000													7	30					1.12685e-05	1.29477e-05	0.047766	1	0
DOCK10	55619	broad.mit.edu	37	2	225761065	225761065	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:225761065A>G	ENST00000409592.3	-	4	458	c.345T>C	c.(343-345)caT>caC	p.H115H	DOCK10_ENST00000258390.7_Silent_p.H121H|DOCK10_ENST00000474102.1_5'UTR			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	121							GTP binding	p.H121H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTTTACCACATGCCACTGGG	0.368000													7	6					0	0	0.038147	0	0
TSC1	7248	broad.mit.edu	37	9	135781222	135781222	+	Silent	SNP	G	G	A	rs118203568		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:135781222G>A	ENST00000298552.3	-	15	1964	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	TSC1_ENST00000440111.2_Silent_p.F581F|TSC1_ENST00000545250.1_Silent_p.F530F	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	581					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.F581F(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GACTGGGAGTGAAGATACTGG	0.537000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	22					0	0	0.058154	0	0
KIF1A	547	broad.mit.edu	37	2	241712631	241712631	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:241712631G>T	ENST00000498729.2	-	13	1326	c.1080C>A	c.(1078-1080)atC>atA	p.I360I	KIF1A_ENST00000320389.7_Silent_p.I360I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	360	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.I360I(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCCTCATTGATGACAGCAT	0.617000													12	35					0.000978159	0.00105926	0.080935	1	0
CELSR2	1952	broad.mit.edu	37	1	109813107	109813107	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:109813107G>T	ENST00000271332.3	+	24	7429	c.7368G>T	c.(7366-7368)tgG>tgT	p.W2456C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2456					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.W2456C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTTTTCCTGGGCTCTGCTGG	0.647000													15	39					8.00594e-06	9.2991e-06	0.043863	1	0
TBR1	10716	broad.mit.edu	37	2	162274207	162274207	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:162274207G>C	ENST00000389554.3	+	2	1030	c.713G>C	c.(712-714)aGt>aCt	p.S238T		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	238						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S238T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCTTTTTTAAGTTTTAACATT	0.398000													60	72					0	0	0.048971	0	0
ATG4D	84971	broad.mit.edu	37	19	10657598	10657598	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:10657598C>T	ENST00000309469.4	+	4	750	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	193					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.R193C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGGGCCTGCCCGCTGGATGCC	0.716000													20	3					0	0	0.055883	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473707	53473707	+	RNA	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:53473707G>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AAATTCTTTGGGATGCTGAAA	0.363000													38	3					4.65686e-17	7.50729e-17	0.064281	1	0
MYO3A	53904	broad.mit.edu	37	10	26436361	26436361	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:26436361C>T	ENST00000265944.5	+	23	2674	c.2508C>T	c.(2506-2508)gtC>gtT	p.V836V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	836	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.V836V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAACAGGTCCTCTATAATG	0.398000													24	17					0	0	0.083992	0	0
KIAA0368	23392	broad.mit.edu	37	9	114156013	114156013	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:114156013G>T	ENST00000259335.4	-	28	3457	c.3456_splice	c.e28-1	p.S1153_splice	KIAA0368_ENST00000338205.5_Splice_Site_p.S975_splice|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368									p.S1153Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTAAGATGAGACTGAAAGAA	0.303000													5	23					0.000602214	0.000655471	0.014758	1	0
NELL1	4745	broad.mit.edu	37	11	20939797	20939797	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:20939797C>A	ENST00000298925.5	+	7	910	c.757C>A	c.(757-759)Cac>Aac	p.H253N	NELL1_ENST00000357134.5_Missense_Mutation_p.H225N|NELL1_ENST00000325319.5_Missense_Mutation_p.H168N|NELL1_ENST00000532434.1_Missense_Mutation_p.H225N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	225					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAATCTAAATCACAGTAAGTA	0.348000													19	111					1.64293e-13	2.39517e-13	0.083992	1	0
CAMKV	79012	broad.mit.edu	37	3	49896879	49896879	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:49896879G>T	ENST00000477224.1	-	11	1856	c.1378C>A	c.(1378-1380)Cct>Act	p.P460T	CAMKV_ENST00000488336.1_Missense_Mutation_p.P429T|CAMKV_ENST00000466940.1_Missense_Mutation_p.P386T|CAMKV_ENST00000467248.1_Missense_Mutation_p.P385T|CAMKV_ENST00000463537.1_Silent_p.P391P|CAMKV_ENST00000296471.7_Missense_Mutation_p.P432T			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	460	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.P460T(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCGGCTCAGGGGTGGCAGCT	0.642000													40	64					5.1965e-05	5.85522e-05	0.098360	1	0
ELOVL2	54898	broad.mit.edu	37	6	10995395	10995395	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:10995395C>A	ENST00000354666.3	-	5	433	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	117					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.W117L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATAGTACCACCAAAGCACCTT	0.438000													19	26					3.8784e-16	6.14401e-16	0.062417	1	0
RELN	5649	broad.mit.edu	37	7	103322703	103322703	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103322703G>T	ENST00000428762.1	-	11	1308	c.1149C>A	c.(1147-1149)agC>agA	p.S383R	RELN_ENST00000343529.5_Missense_Mutation_p.S383R|RELN_ENST00000424685.2_Missense_Mutation_p.S383R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	383					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S383R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGACTGACAGCTATGCTGTA	0.408000													17	58					3.99206e-14	5.98341e-14	0.043863	1	0
APOB	338	broad.mit.edu	37	2	21229598	21229598	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:21229598A>G	ENST00000233242.1	-	26	10269	c.10142T>C	c.(10141-10143)tTa>tCa	p.L3381S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3381	LDL receptor binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L3381S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTGCCCTCTAATTTGTACTG	0.408000													58	61					0	0	0.048971	0	0
ADAD2	161931	broad.mit.edu	37	16	84230345	84230345	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:84230345T>G	ENST00000268624.3	+	10	1958	c.1865T>G	c.(1864-1866)cTg>cGg	p.L622R	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.L540R|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	540					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	p.L622R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCTACCTCCTGGCCTTGAAG	0.687000													9	53					0	0	0.047766	0	0
ACACB	32	broad.mit.edu	37	12	109680382	109680382	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:109680382G>T	ENST00000338432.7	+	37	5282	c.5163G>T	c.(5161-5163)ccG>ccT	p.P1721P	ACACB_ENST00000377848.3_Silent_p.P1721P|ACACB_ENST00000543201.1_Silent_p.P387P|ACACB_ENST00000377854.5_Silent_p.P1651P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1721					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.P387P(1)|p.P1721P(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATGACTTCCCGGAAATGTTCA	0.577000													34	12					4.3181e-19	7.34996e-19	0.054565	1	0
PRIM2	5558	broad.mit.edu	37	6	57398234	57398234	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:57398234C>A	ENST00000607273.1	+	10	1024	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	313					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.L313M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGTCCTATTTCTGAAGGGCAT	0.388000													22	96					2.32416e-17	3.77528e-17	0.069288	1	0
CDC73	79577	broad.mit.edu	37	1	193218922	193218922	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:193218922G>T	ENST00000367435.3	+	16	1664	c.1480G>T	c.(1480-1482)Gta>Tta	p.V494L	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	494					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.V494L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GAAATGGGATGTAACAGTATT	0.373000													19	44					1.96292e-10	2.66159e-10	0.055883	1	0
AFMID	125061	broad.mit.edu	37	17	76198623	76198623	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:76198623C>T	ENST00000409257.5	+	3	252	c.198C>T	c.(196-198)gtC>gtT	p.V66V	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Silent_p.V66V|AFMID_ENST00000588800.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	66						cytosol|nucleus	arylformamidase activity	p.V66V(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGCTGCATGTCCCCTATGGAG	0.592000													12	51					0	0	0.028581	0	0
ADGRG6	57211	broad.mit.edu	37	6	142630733	142630733	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:142630733C>T	ENST00000230173.6	+	2	531	c.55C>T	c.(55-57)Cct>Tct	p.P19S	GPR126_ENST00000296932.8_Missense_Mutation_p.P19S|GPR126_ENST00000367608.2_Missense_Mutation_p.P19S|GPR126_ENST00000367609.3_Missense_Mutation_p.P19S|GPR126_ENST00000545477.1_3'UTR	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P19S(1)|p.P18S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GAAGCCCAGTCCTCTCCTGTT	0.413000													3	4					0	0	0.004672	0	0
ARHGAP25	9938	broad.mit.edu	37	2	68962337	68962337	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:68962337C>T	ENST00000295381.3	+	1	425	c.6C>T	c.(4-6)tcC>tcT	p.S2S	ARHGAP25_ENST00000467265.1_Silent_p.S2S|ARHGAP25_ENST00000409202.3_Silent_p.S2S|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	2					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S2S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAAAATGTCCCTAAAATTGC	0.433000													12	57					0	0	0.080935	0	0
SPTA1	6708	broad.mit.edu	37	1	158615096	158615096	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:158615096C>A	ENST00000368148.3	-	29	4256	c.4076G>T	c.(4075-4077)gGg>gTg	p.G1359V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1359V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1359					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G1359V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCATGGTGCCCACTGTCGAT	0.502000													25	50					1.64293e-13	2.39517e-13	0.083992	1	0
LY75	4065	broad.mit.edu	37	2	160697335	160697335	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:160697335G>T	ENST00000263636.4	-	25	3439	c.3412C>A	c.(3412-3414)Ctg>Atg	p.L1138M	LY75_ENST00000553424.1_Missense_Mutation_p.L1138M|LY75_ENST00000554112.1_Missense_Mutation_p.L1138M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1138M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1138M	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.L1138M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGCTCACCAGCTGCATGTTA	0.443000													51	60					2.52991e-16	4.02771e-16	0.048971	1	0
LILRB5	10990	broad.mit.edu	37	19	54760174	54760174	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:54760174C>A	ENST00000450632.1	-	4	437	c.360G>T	c.(358-360)ctG>ctT	p.L120L	LILRB5_ENST00000449561.2_Silent_p.L129L|LILRB5_ENST00000316219.5_Silent_p.L129L|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	129	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.L120L(1)|p.L129L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGACTCGGCAGGGCTAAAA	0.552000													45	10					3.70713e-34	7.08228e-34	0.048971	1	0
TRPM6	140803	broad.mit.edu	37	9	77377235	77377235	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:77377235C>A	ENST00000451710.3	-	26	4589	c.4352G>T	c.(4351-4353)gGa>gTa	p.G1451V	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1446V|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1451V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1446V|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1451V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1451					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1451V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTTACATATCCACCTCCAGT	0.478000													27	29					8.58068e-18	1.40811e-17	0.034045	1	0
OVCH1	341350	broad.mit.edu	37	12	29617627	29617627	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:29617627C>T	ENST00000318184.5	-	18	1937	c.1938G>A	c.(1936-1938)agG>agA	p.R646R	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	646	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R646R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGTGTTTGGCCCTTCTCACCT	0.403000													72	24					0	0	0.048971	0	0
KRT23	25984	broad.mit.edu	37	17	39092632	39092632	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:39092632G>T	ENST00000209718.3	-	2	648	c.224C>A	c.(223-225)aCc>aAc	p.T75N	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	75	Coil 1A.|Rod.					intermediate filament	structural molecule activity	p.T75N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ATTCTGCATGGTGGCCTTCCC	0.617000													77	24					4.18771e-30	7.906e-30	0.048971	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46120390	46120390	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:46120390C>A	ENST00000355105.3	-	6	1662	c.302G>T	c.(301-303)cGa>cTa	p.R101L	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R101L	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R101L(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ATCATGACCTCGGGAAGAGCT	0.552000													9	19					0.0581538	0.0588899	0.058154	1	0
SPDEF	25803	broad.mit.edu	37	6	34512074	34512074	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:34512074C>A	ENST00000374037.3	-	2	573	c.159G>T	c.(157-159)caG>caT	p.Q53H	SPDEF_ENST00000544425.1_Missense_Mutation_p.Q53H	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	53					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q53H(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CGGACAGGCCCTGCTCGGGCG	0.682000													16	16					2.4624e-09	3.24935e-09	0.049695	1	0
MKRN3	7681	broad.mit.edu	37	15	23812161	23812161	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:23812161C>A	ENST00000314520.3	+	1	1708	c.1232C>A	c.(1231-1233)cCa>cAa	p.P411Q	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	411						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P411Q(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTAACTGCCCATTTGGAGAC	0.522000													9	43					0.0581538	0.0588899	0.058154	1	0
XXYLT1	152002	broad.mit.edu	37	3	194991426	194991426	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:194991426G>T	ENST00000310380.6	-	1	470	c.362C>A	c.(361-363)gCg>gAg	p.A121E		NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	121						integral to membrane	transferase activity, transferring glycosyl groups	p.A121E(1)									TGAGCGCAGCGCGACGCGGGC	0.682000													7	17					3.09899e-07	3.79226e-07	0.047766	1	0
HOXA6	3203	broad.mit.edu	37	7	27185361	27185361	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:27185361G>C	ENST00000222728.3	-	2	642	c.618C>G	c.(616-618)cgC>cgG	p.R206R	HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R206R(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACTTCATGCGGCGGTTCTGGA	0.602000													43	118					0	0	0.111260	0	0
TSSC2	650368	broad.mit.edu	37	11	3424847	3424847	+	RNA	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:3424847G>T	ENST00000529482.1	+	0	845																											ACTCTTGATGGACACAACCTT	0.453000													50	32					6.176e-18	1.024e-17	0.048971	1	0
PTTG2	10744	broad.mit.edu	37	4	37962455	37962455	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:37962455C>G	ENST00000504686.1	+	1	400	c.400C>G	c.(400-402)Cgc>Ggc	p.R134G	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	134					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	p.R134G(1)		breast(1)|endometrium(1)|lung(4)|skin(1)	7						GCCTGAAGAGCGCCAGATTGC	0.483000													19	55					0	0	0.043863	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898788	48898788	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:48898788C>T	ENST00000394754.1	+	10	3524	c.3410C>T	c.(3409-3411)aCg>aTg	p.T1137M	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1137M|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T399M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1137M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1090M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1137M|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T433M	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1090					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T82M(2)|p.T1137M(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGTTTGACACGGATAATGTT	0.343000													46	74					0	0	0.048971	0	0
LAMB4	22798	broad.mit.edu	37	7	107696229	107696229	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:107696229A>G	ENST00000388781.3	-	25	3686	c.3603T>C	c.(3601-3603)gcT>gcC	p.A1201A	LAMB4_ENST00000388780.3_Silent_p.A1201A|LAMB4_ENST00000205386.4_Silent_p.A1201A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1201	Domain II.				cell adhesion	basement membrane		p.A1201A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTCCATGTTAGCAGCCAGTC	0.458000													13	43					0	0	0.020292	0	0
MARCH11	441061	broad.mit.edu	37	5	16177991	16177991	+	Splice_Site	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:16177991C>T	ENST00000332432.8	-	2	737		c.e2-1		MARCH11_ENST00000505509.1_Splice_Site	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11							cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACAACTCACCCTAAAAAGAAA	0.428000													5	15					0	0	0.014758	0	0
S1PR3	1903	broad.mit.edu	37	9	91616117	91616117	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:91616117T>A	ENST00000375846.3	+	1	4697	c.2T>A	c.(1-3)aTg>aAg	p.M1K	S1PR3_ENST00000358157.2_Start_Codon_SNP_p.M1K			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	1					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.M1K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGCCAAGTGATGGCAACTGCC	0.607000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	53					0	0	0.055883	0	0
TDRD5	163589	broad.mit.edu	37	1	179561783	179561783	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:179561783G>T	ENST00000444136.1	+	2	283	c.33G>T	c.(31-33)ctG>ctT	p.L11L	TDRD5_ENST00000367614.1_Silent_p.L11L|TDRD5_ENST00000294848.8_Silent_p.L11L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	11	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.L11L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGAATGTCTGCGGAAGGAAA	0.468000													32	50					7.16026e-08	9.07439e-08	0.050027	1	0
LGALS2	3957	broad.mit.edu	37	22	37966684	37966684	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:37966684A>T	ENST00000215886.4	-	3	322	c.148T>A	c.(148-150)Ttc>Atc	p.F50I		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	50	Galectin.							p.F50I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					GATTCGCTGAAGCGAGGGTTG	0.552000													45	51					0	0	0.048971	0	0
VWA8	23078	broad.mit.edu	37	13	42142415	42142415	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:42142415C>A	ENST00000379310.3	-	45	5704	c.5636G>T	c.(5635-5637)cGg>cTg	p.R1879L		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.R1879L(1)									AACGAAAGACCGACCAGCTGG	0.502000													10	29					1.08611e-07	1.35763e-07	0.080935	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927856	13927856	+	RNA	SNP	T	T	C	rs148981647	by1000genomes	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:13927856T>C	ENST00000602743.1	-	0	224																											TTCTCCACTTTGAGAGGTTGC	0.542000													3	4					0	0	0.047766	0	0
PIWIL3	440822	broad.mit.edu	37	22	25123945	25123945	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:25123945C>T	ENST00000332271.5	-	16	2424	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.V552I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V552I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	670	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.V670I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTACTTGCAACAAATCCTGCT	0.343000													21	27					0	0	0.062417	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134736	48134736	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:48134736T>A	ENST00000405493.2	-	20	2094	c.1885A>T	c.(1885-1887)Acg>Tcg	p.T629S	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.T671S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.T671S|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.T629S|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.T580S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.T629S	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	629					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.T629S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TCGTGGTCCGTCAGCTGGCCT	0.682000													9	10					0	0	0.058154	0	0
ULK4	54986	broad.mit.edu	37	3	41504603	41504603	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:41504603G>C	ENST00000301831.4	-	33	3830	c.3368C>G	c.(3367-3369)tCc>tGc	p.S1123C		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1123							ATP binding|protein serine/threonine kinase activity	p.S1123C(1)|p.S275C(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATACCGGAGGTATAGGT	0.453000													30	62					0	0	0.041601	0	0
CACNG8	59283	broad.mit.edu	37	19	54485474	54485474	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:54485474G>C	ENST00000270458.2	+	4	752	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	217					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E217Q(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATCCTGGCCGAGGTGATAGG	0.672000													17	1					0	0	0.033300	0	0
DVL3	1857	broad.mit.edu	37	3	183888495	183888495	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:183888495C>T	ENST00000313143.3	+	15	2351	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	DVL3_ENST00000431765.1_Silent_p.F684F|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	701				PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.F701F(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GACAGTCCTTCCGCATGGCCA	0.701000													11	6					0	0	0.093190	0	0
LEPR	3953	broad.mit.edu	37	1	66102113	66102113	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:66102113G>T	ENST00000349533.6	+	20	3098	c.2913G>T	c.(2911-2913)gaG>gaT	p.E971D	LEPR_ENST00000406510.3_Missense_Mutation_p.E38D	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	971					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.E971D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGGTACTGAGGTAACCTATG	0.438000													22	170					2.27731e-05	2.58877e-05	0.062417	1	0
API5	8539	broad.mit.edu	37	11	43348161	43348161	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:43348161G>T	ENST00000378852.3	+	7	980	c.855_splice	c.e7+1	p.E285_splice	API5_ENST00000531273.1_Splice_Site_p.E285_splice|API5_ENST00000420461.2_Splice_Site_p.E231_splice|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Splice_Site_p.E285_splice|API5_ENST00000455725.2_Splice_Site_p.E274_splice	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	285					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.E285D(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TACAGTTGGAGGTAAGCAAAA	0.388000													26	82					9.39395e-14	1.38848e-13	0.030593	1	0
RAET1K	646024	broad.mit.edu	37	6	150322629	150322629	+	RNA	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:150322629C>A	ENST00000533735.1	-	0	247					NR_024045.1																						TTTGTTCTTCCCAGGTTTTTG	0.438000													22	9					1.55795e-14	2.35718e-14	0.062417	1	0
PPP1R21	129285	broad.mit.edu	37	2	48688331	48688331	+	Silent	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:48688331C>G	ENST00000294952.8	+	7	811	c.654C>G	c.(652-654)tcC>tcG	p.S218S	PPP1R21_ENST00000449090.2_Silent_p.S218S|PPP1R21_ENST00000281394.4_Silent_p.S218S	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	218								p.S218S(2)		endometrium(2)|kidney(4)|lung(9)	15						TAGAGGAATCCTTATCAATCA	0.308000													18	29					0	0	0.043863	0	0
TMC1	117531	broad.mit.edu	37	9	75357402	75357402	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:75357402G>T	ENST00000297784.5	+	10	1036	c.496G>T	c.(496-498)Gcg>Tcg	p.A166S	TMC1_ENST00000396237.3_Missense_Mutation_p.A166S|TMC1_ENST00000340019.3_Missense_Mutation_p.A166S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	166	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane		p.A166S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CTTCAAAGCTGCGTGTGTCCC	0.368000													15	21					1.15088e-07	1.43579e-07	0.028581	1	0
SERPINA3	12	broad.mit.edu	37	14	95088785	95088785	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:95088785A>G	ENST00000553947.1	+	7	1988	c.1100A>G	c.(1099-1101)gAc>gGc	p.D367G	SERPINA3_ENST00000467132.1_Missense_Mutation_p.D342G|SERPINA3_ENST00000482740.1_Missense_Mutation_p.D124G|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D342G|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.D342G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	342					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.D342G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGCAAGGCTGACCTGTCAGGG	0.507000													72	6					0	0	0.048971	0	0
CFHR4	10877	broad.mit.edu	37	1	196887425	196887425	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:196887425A>T	ENST00000367416.2	+	10	1760	c.1623A>T	c.(1621-1623)acA>acT	p.T541T	CFHR4_ENST00000367418.1_Silent_p.T295T|CFHR4_ENST00000251424.4_Silent_p.T295T|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.T295T(1)|p.T541T(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATGCAAAAACAGGGGATACCA	0.313000													29	38					0	0	0.030593	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890583	15890583	+	RNA	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:15890583G>T	ENST00000587443.2	-	0	214					NR_033864.1																						TACTGAAGGCGGCGGCAGTTG	0.612000													16	4					1.77063e-15	2.77746e-15	0.108266	1	0
IGLV3-16	28799	broad.mit.edu	37	22	23090224	23090224	+	RNA	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:23090224C>T	ENST00000390311.2	+	0	201																											TTATTGGTACCAGCAGAAGCC	0.537000													9	42					0	0	0.058154	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963787	148963787	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:148963787G>T	ENST00000434415.1	+	2	549	c.386G>T	c.(385-387)cGg>cTg	p.R129L		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	129					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R129L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGGATCTTGCGGCTGCCCCCG	0.672000													26	88					4.87955e-14	7.27952e-14	0.108266	1	0
TMEM82	388595	broad.mit.edu	37	1	16070900	16070900	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:16070900G>T	ENST00000375782.1	+	4	720	c.582G>T	c.(580-582)ctG>ctT	p.L194L	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	194	Leu-rich.					integral to membrane		p.L194L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTGCTGGCCCATGCAC	0.701000													4	3					0.00909568	0.00940426	0.009096	1	0
SLA	6503	broad.mit.edu	37	8	134050794	134050794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:134050794G>T	ENST00000338087.5	-	9	1625	c.806C>A	c.(805-807)tCa>tAa	p.S269*	SLA_ENST00000517648.1_Nonsense_Mutation_p.S242*|SLA_ENST00000427060.2_Nonsense_Mutation_p.S309*|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.S286*|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Nonsense_Mutation_p.S161*	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	269	SLA C-terminal.					endosome	SH3/SH2 adaptor activity	p.S309*(1)|p.S269*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGTGGTGATGAGAAGAATGA	0.468000													62	155					3.86002e-21	6.80554e-21	0.048971	1	0
AHCY	191	broad.mit.edu	37	20	32878141	32878141	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:32878141C>T	ENST00000538132.1	-	8	1271	c.885G>A	c.(883-885)ccG>ccA	p.P295P	AHCY_ENST00000217426.2_Silent_p.P323P	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	323					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	p.P323P(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTCACCTGCGGCTTGATGT	0.567000													35	53					0	0	0.098360	0	0
WT1	7490	broad.mit.edu	37	11	32414272	32414272	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:32414272C>A	ENST00000332351.3	-	8	1563	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	WT1_ENST00000379079.2_Missense_Mutation_p.D215Y|WT1_ENST00000448076.3_Missense_Mutation_p.D427Y|WT1_ENST00000530998.1_Missense_Mutation_p.D198Y	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	359					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.D215Y(1)|p.D359Y(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGTTCACAGTCCTTGAAGTCA	0.443000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				8	46					0.00307968	0.00325247	0.038147	1	0
CCDC87	55231	broad.mit.edu	37	11	66359007	66359007	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:66359007C>A	ENST00000333861.3	-	1	1547	c.1480G>T	c.(1480-1482)Gtc>Ttc	p.V494F		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	494								p.V494F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCCTTGTAGACCTCCCTGGTA	0.488000													84	76					1.02218e-41	2.01291e-41	0.048971	1	0
COL11A1	1301	broad.mit.edu	37	1	103491782	103491782	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:103491782G>C	ENST00000370096.3	-	6	1199	c.887C>G	c.(886-888)gCa>gGa	p.A296G	COL11A1_ENST00000512756.1_Missense_Mutation_p.A296G|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	296	Nonhelical 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	p.A296G(1)		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)		CTCCGTCTGTGCTATTGTCTC	0.443000													16	37					0	0	0.028581	0	0
SP140	11262	broad.mit.edu	37	2	231090583	231090583	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:231090583G>T	ENST00000392045.3	+	1	138	c.24G>T	c.(22-24)ggG>ggT	p.G8G	SP140_ENST00000373645.3_Silent_p.G8G|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000417495.3_Silent_p.G8G|SP140_ENST00000343805.6_Silent_p.G8G|SP140_ENST00000420434.3_Silent_p.G8G|SP140_ENST00000486687.2_Silent_p.G8G	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	8					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G8G(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCCAGCAGGGGCAGATGGCAA	0.547000													15	10					4.7546e-09	6.22279e-09	0.028581	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20488833	20488833	+	RNA	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:20488833G>C	ENST00000555186.1	+	0	316					NR_038836.1																						CTTGGCTCCTGAAGTTCTTGT	0.418000													16	109					0	0	0.024245	0	0
C1orf87	127795	broad.mit.edu	37	1	60538214	60538214	+	Silent	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:60538214T>A	ENST00000371201.3	-	2	209	c.102A>T	c.(100-102)ccA>ccT	p.P34P	C1orf87_ENST00000450089.2_Silent_p.P34P	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	34							calcium ion binding	p.P34P(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTACATCTTTGGCTTCTCCA	0.363000													20	176					0	0	0.055883	0	0
OR6C2	341416	broad.mit.edu	37	12	55846340	55846340	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:55846340G>T	ENST00000322678.1	+	1	343	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A115S(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCTCTTGGCAGCCATGTCCTA	0.413000													94	37					8.47766e-36	1.63425e-35	0.048971	1	0
AGAP3	116988	broad.mit.edu	37	7	150839674	150839674	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:150839674G>C	ENST00000397238.2	+	16	2226	c.2226G>C	c.(2224-2226)tgG>tgC	p.W742C	AGAP3_ENST00000463381.1_Missense_Mutation_p.W411C	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	706	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.W742C(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACAGCGTCTGGGAGGGGGCCT	0.662000													13	16					0	0	0.105934	0	0
GABRB1	2560	broad.mit.edu	37	4	47405585	47405585	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:47405585C>A	ENST00000295454.3	+	7	984	c.692C>A	c.(691-693)cCa>cAa	p.P231Q	GABRB1_ENST00000538619.1_Missense_Mutation_p.P161Q	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	231					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P231Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAGCGTATCCACGACTGTCA	0.413000													35	28					1.30998e-17	2.13875e-17	0.080422	1	0
SLC9C2	284525	broad.mit.edu	37	1	173476059	173476059	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:173476059A>C	ENST00000367714.3	-	25	3583	c.3161T>G	c.(3160-3162)gTa>gGa	p.V1054G	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1054					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.V1054G(1)									AGTATCAATTACACTGCCATA	0.338000													24	55					0	0	0.091800	0	0
POLA1	5422	broad.mit.edu	37	X	24767091	24767091	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:24767091G>A	ENST00000379068.3	+	26	2989	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	POLA1_ENST00000379059.3_Silent_p.V976V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	976					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.V976V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	CTGCCTTGGTGACATACAAAG	0.408000													27	9					0	0	0.034045	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762522	92762522	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:92762522G>A	ENST00000318238.4	-	5	3979	c.2763C>T	c.(2761-2763)ctC>ctT	p.L921L	SAMD9L_ENST00000437805.1_Silent_p.L921L|SAMD9L_ENST00000411955.1_Silent_p.L921L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	921								p.L921L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAAGGAAATGAGTTGTGCTT	0.358000													17	20					0	0	0.043863	0	0
FREM2	341640	broad.mit.edu	37	13	39430390	39430390	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:39430390G>T	ENST00000280481.7	+	12	7269	c.7053G>T	c.(7051-7053)atG>atT	p.M2351I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2351					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.M2351I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAGCAGAGATGCAGGTAAGTA	0.398000													8	33					0.00448238	0.00471055	0.047766	1	0
AHSG	197	broad.mit.edu	37	3	186333533	186333533	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:186333533G>T	ENST00000411641.2	+	2	492	c.273G>T	c.(271-273)gtG>gtT	p.V91V	AHSG_ENST00000273784.5_Silent_p.V91V			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	91	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.V91V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCTGCCATGTGCTGGACCCCA	0.567000													20	19					1.50039e-11	2.0695e-11	0.062417	1	0
WDR54	84058	broad.mit.edu	37	2	74652753	74652753	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:74652753T>C	ENST00000348227.4	+	10	1018	c.930T>C	c.(928-930)ttT>ttC	p.F310F	WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	310								p.F310F(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GTGCTCGATTTTGTGATTCCT	0.577000													45	98					0	0	0.048971	0	0
HES3	390992	broad.mit.edu	37	1	6305549	6305549	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:6305549C>A	ENST00000377898.3	+	4	608	c.543C>A	c.(541-543)ccC>ccA	p.P181P		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	181					transcription, DNA-dependent	nucleus	DNA binding	p.P181P(1)		lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		GGGGAAGCCCCGGGGATGACC	0.697000													5	5					8.12818e-05	9.09447e-05	0.029380	1	0
SV2B	9899	broad.mit.edu	37	15	91769503	91769503	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:91769503T>C	ENST00000394232.1	+	2	480	c.10T>C	c.(10-12)Tac>Cac	p.Y4H	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.Y4H	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	4					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.Y4H(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATGGATGACTACAAGTATCA	0.488000													10	11					0	0	0.080935	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	28					0	0	0.009096	0	0
RELN	5649	broad.mit.edu	37	7	103292171	103292171	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103292171G>C	ENST00000428762.1	-	15	1988	c.1829C>G	c.(1828-1830)cCt>cGt	p.P610R	RELN_ENST00000343529.5_Missense_Mutation_p.P610R|RELN_ENST00000424685.2_Missense_Mutation_p.P610R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	610					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.P610R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGATCTCAGGTAAGCATTC	0.473000													6	34					0	0	0.021553	0	0
TBX22	50945	broad.mit.edu	37	X	79282284	79282284	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:79282284C>G	ENST00000442340.1	+	6	845	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	TBX22_ENST00000373294.5_Missense_Mutation_p.Q239E|TBX22_ENST00000373296.3_Missense_Mutation_p.Q239E|TBX22_ENST00000373291.1_Missense_Mutation_p.Q119E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	239					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q239E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCCCAGATTCAGTCCTTGCC	0.448000													32	5					0	0	0.045705	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40265983	40265983	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:40265983G>A	ENST00000559624.1	+	11	1901	c.1851G>A	c.(1849-1851)taG>taA	p.*617*	EIF2AK4_ENST00000263791.5_Intron|EIF2AK4_ENST00000382727.2_Intron			Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	0	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTCCCCTTTAGAGCTCCTTCT	0.433000													44	38					0	0	0.045515	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937482	82937482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:82937482C>A	ENST00000274341.4	-	5	1748	c.898G>T	c.(898-900)Gga>Tga	p.G300*		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	300	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G300*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGGTCATATCCGAGAATTTTC	0.557000													69	106					2.17656e-39	4.24694e-39	0.048971	1	0
UPP2	151531	broad.mit.edu	37	2	158978086	158978086	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:158978086C>A	ENST00000605860.1	+	8	837	c.791C>A	c.(790-792)cCa>cAa	p.P264Q	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.P207Q|UPP2_ENST00000409859.4_Missense_Mutation_p.P264Q			O95045	UPP2_HUMAN	uridine phosphorylase 2	207					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.P207Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CCCAACTTCCCAACCCTCGTT	0.393000													15	65					6.31663e-08	8.03706e-08	0.024245	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435192	104435192	+	RNA	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:104435192A>C	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GAAAATCATCACTTTTTAAAG	0.343000													12	15					0	0	0.028581	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554470	140554470	+	Missense_Mutation	SNP	C	C	A	rs17844475		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140554470C>A	ENST00000231137.3	+	1	2228	c.2054C>A	c.(2053-2055)aCc>aAc	p.T685N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		685					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T685N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGCTCACCGTCTACCTG	0.711000													46	120					8.00217e-19	1.34773e-18	0.048971	1	0
HDX	139324	broad.mit.edu	37	X	83591885	83591885	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:83591885T>C	ENST00000297977.5	-	7	1775	c.1664A>G	c.(1663-1665)gAg>gGg	p.E555G	HDX_ENST00000373177.2_Missense_Mutation_p.E555G|HDX_ENST00000506585.2_Missense_Mutation_p.E497G	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	555						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E555G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCATTGGGCTCTTCTACAGA	0.323000													16	1					0	0	0.038395	0	0
OR9I1	219954	broad.mit.edu	37	11	57886584	57886584	+	Silent	SNP	C	C	T	rs144479851		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:57886584C>T	ENST00000302610.1	-	1	332	c.333G>A	c.(331-333)gaG>gaA	p.E111E	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAGAAAGCACTCTGTGCCTG	0.557000													6	30					0	0	0.021553	0	0
POLG	5428	broad.mit.edu	37	15	89867077	89867077	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:89867077C>A	ENST00000268124.5	-	12	2459	c.2126G>T	c.(2125-2127)cGa>cTa	p.R709L	POLG_ENST00000442287.2_Missense_Mutation_p.R709L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	709					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.R709L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CACTGCAGCTCGCAAGTTCTC	0.567000								DNA polymerases (catalytic subunits)					6	34					2.0095e-06	2.38605e-06	0.029380	1	0
ZNF81	347344	broad.mit.edu	37	X	47775357	47775357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:47775357G>T	ENST00000376954.1	+	6	1680	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*	ZNF81_ENST00000338637.7_Nonsense_Mutation_p.G438*			P51508	ZNF81_HUMAN	zinc finger protein 81	438						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G438*(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AATTCATACAGGAGAGAGGTC	0.433000													28	5					4.87955e-14	7.27952e-14	0.108266	1	0
MFSD7	84179	broad.mit.edu	37	4	680325	680325	+	Missense_Mutation	SNP	G	G	A	rs139449222		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:680325G>A	ENST00000322224.4	-	2	603	c.290C>T	c.(289-291)gCg>gTg	p.A97V	MFSD7_ENST00000404286.2_Missense_Mutation_p.A97V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A75V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A33V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A97V|MFSD7_ENST00000513740.1_5'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	97					transmembrane transport	integral to membrane		p.A97V(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ACTCACCGCCGCACGGAGCCC	0.662000													20	31					0	0	0.055883	0	0
TMCO4	255104	broad.mit.edu	37	1	20009804	20009804	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:20009804T>A	ENST00000294543.6	-	16	1875	c.1634A>T	c.(1633-1635)cAg>cTg	p.Q545L	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q505L|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q545L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	545						integral to membrane		p.Q545L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGCTGCTGCCTGGCGAGGCTC	0.662000													28	26					0	0	0.041601	0	0
ALPK2	115701	broad.mit.edu	37	18	56247074	56247074	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:56247074G>T	ENST00000361673.3	-	4	1147	c.934C>A	c.(934-936)Cca>Aca	p.P312T		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	312							ATP binding|protein serine/threonine kinase activity	p.P312T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTATCTCTGGGCAAAGTTCA	0.478000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	51					1.67942e-08	2.16699e-08	0.038395	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37454033	37454033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:37454033C>A	ENST00000374660.1	+	18	1945	c.1846C>A	c.(1846-1848)Cca>Aca	p.P616T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P616T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P616T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	672						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P616T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAGATACTCCCATCAGAATC	0.294000													30	14					1.07637e-12	1.54111e-12	0.074837	1	0
GPR112	139378	broad.mit.edu	37	X	135485469	135485469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:135485469C>A	ENST00000394143.1	+	22	8933	c.8642C>A	c.(8641-8643)cCa>cAa	p.P2881Q	GPR112_ENST00000394141.1_Missense_Mutation_p.P2676Q|GPR112_ENST00000287534.4_Missense_Mutation_p.P2634Q|GPR112_ENST00000412101.1_Missense_Mutation_p.P2676Q|GPR112_ENST00000370652.1_Missense_Mutation_p.P2881Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2881					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P2881Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAGCCCAACAACTCCG	0.488000													8	5					0.00307968	0.00325247	0.038147	1	0
UNC5A	90249	broad.mit.edu	37	5	176297470	176297470	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:176297470G>A	ENST00000329542.4	+	6	1095	c.821G>A	c.(820-822)gGa>gAa	p.G274E	UNC5A_ENST00000261961.3_Missense_Mutation_p.G234E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	274	TSP type-1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.G274E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGCAACGGAGGGGAGGAG	0.642000													15	50					0	0	0.028581	0	0
AGRN	375790	broad.mit.edu	37	1	986125	986125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:986125C>A	ENST00000379370.2	+	30	5211	c.5161C>A	c.(5161-5163)Ctg>Atg	p.L1721M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1721	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.L1721M(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCAGTCACCCTGGGAGCCTG	0.711000													3	6					0.00909568	0.00940426	0.009096	1	0
MUC16	94025	broad.mit.edu	37	19	9011493	9011493	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:9011493G>T	ENST00000397910.4	-	36	38943	c.38738_splice	c.e36-1	p.P12914_splice		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12916	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P66T(1)|p.P12914T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTTCTCAGGCCTGGGGAAG	0.522000													54	23					6.60958e-23	1.1816e-22	0.048971	1	0
SIX1	6495	broad.mit.edu	37	14	61113223	61113223	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:61113223C>A	ENST00000247182.6	-	2	905	c.633G>T	c.(631-633)ccG>ccT	p.P211P	SIX1_ENST00000554986.1_Silent_p.P38P	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	211					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P211P(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TGGACATGAGCGGCTTGCCCC	0.527000													70	12					4.05715e-38	7.89232e-38	0.048971	1	0
SCN10A	6336	broad.mit.edu	37	3	38739735	38739735	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:38739735G>T	ENST00000449082.2	-	27	4975	c.4976C>A	c.(4975-4977)aCg>aAg	p.T1659K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1659					sensory perception	voltage-gated sodium channel complex		p.T1659K(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCGGCCGACGTGGTAATCTG	0.597000													35	44					3.2961e-07	4.02577e-07	0.074837	1	0
HAS1	3036	broad.mit.edu	37	19	52222568	52222568	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:52222568G>T	ENST00000540069.2	-	2	650	c.590C>A	c.(589-591)gCg>gAg	p.A197E	HAS1_ENST00000222115.1_Missense_Mutation_p.A198E|HAS1_ENST00000601714.1_Missense_Mutation_p.A205E|HAS1_ENST00000594621.1_Missense_Mutation_p.A52E			Q92839	HAS1_HUMAN	hyaluronan synthase 1	198					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.A198E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTCACCAGCGCCTCCACTGC	0.711000													10	4					4.68919e-08	5.99018e-08	0.069234	1	0
MSMO1	6307	broad.mit.edu	37	4	166254679	166254679	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:166254679G>C	ENST00000261507.6	+	2	330	c.157G>C	c.(157-159)Gga>Cga	p.G53R	MSMO1_ENST00000504317.1_Missense_Mutation_p.G53R|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	53					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.G53R(1)								NADH(DB00157)	TGCAACATGGGGATCCCTTAT	0.299000													14	39					0	0	0.020292	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12248921	12248921	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:12248921A>T	ENST00000376259.3	+	2	236	c.147A>T	c.(145-147)acA>acT	p.T49T	TNFRSF1B_ENST00000536782.1_Silent_p.T49T|TNFRSF1B_ENST00000492361.1_Intron	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	49					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	p.T49T(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ATGACCAGACAGCTCAGATGT	0.632000													12	30					0	0	0.080935	0	0
CTCFL	140690	broad.mit.edu	37	20	56094399	56094399	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:56094399C>T	ENST00000426658.2	-	3	1450	c.789G>A	c.(787-789)atG>atA	p.M263I	CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000433949.2_Missense_Mutation_p.M263I|CTCFL_ENST00000429804.2_Missense_Mutation_p.M263I|CTCFL_ENST00000423479.2_Missense_Mutation_p.M263I|CTCFL_ENST00000243914.3_Missense_Mutation_p.M263I|CTCFL_ENST00000371196.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422869.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422109.2_Missense_Mutation_p.M263I|CTCFL_ENST00000432255.2_Missense_Mutation_p.M263I|CTCFL_ENST00000539382.1_Missense_Mutation_p.M58I|CTCFL_ENST00000502686.2_Start_Codon_SNP_p.M1I			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	263					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.M263I(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAGAGGTGAACATGCAGACAT	0.398000													16	80					0	0	0.043863	0	0
C1orf116	79098	broad.mit.edu	37	1	207195647	207195647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:207195647C>A	ENST00000359470.5	-	4	1711	c.1462G>T	c.(1462-1464)Ggc>Tgc	p.G488C	C1orf116_ENST00000461135.2_Missense_Mutation_p.G242C	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	488						cytoplasm|plasma membrane	receptor activity	p.G488C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTCCCACGCCTGAGCGCTCC	0.567000													3	10					0.00909568	0.00940426	0.009096	1	0
THSD7B	80731	broad.mit.edu	37	2	137988681	137988681	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:137988681C>A	ENST00000409968.1	+	8	1969	c.1791C>A	c.(1789-1791)ccC>ccA	p.P597P	THSD7B_ENST00000272643.3_Silent_p.P597P|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.P566P					thrombospondin, type I, domain containing 7B									p.P597P(1)|p.P566P(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGAAATTCCCTGCCGAATGG	0.483000													9	22					4.68919e-08	5.99018e-08	0.069234	1	0
OR6C75	390323	broad.mit.edu	37	12	55759343	55759343	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:55759343G>T	ENST00000343399.3	+	1	449	c.449G>T	c.(448-450)gGg>gTg	p.G150V		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G150V(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCTTGCAGGGTTTCTGATC	0.453000													30	5					1.50538e-07	1.86714e-07	0.030593	1	0
KCNC1	3746	broad.mit.edu	37	11	17794031	17794031	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:17794031C>T	ENST00000379472.3	+	2	1420	c.1390C>T	c.(1390-1392)Ccg>Tcg	p.P464S	KCNC1_ENST00000265969.6_Missense_Mutation_p.P464S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	464						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P464S(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCCGCGGCCACCGCAGCTGGG	0.473000													14	55					0	0	0.024245	0	0
GLCCI1	113263	broad.mit.edu	37	7	8062173	8062173	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:8062173T>A	ENST00000223145.5	+	3	1227	c.670T>A	c.(670-672)Tgg>Agg	p.W224R	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	224								p.W224M(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTCTGCGTCATGGGGGAGTGC	0.358000													16	11					0	0	0.055883	0	0
CACNA1E	777	broad.mit.edu	37	1	181765960	181765960	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:181765960C>A	ENST00000526775.1	+	45	6344	c.6179C>A	c.(6178-6180)cCc>cAc	p.P2060H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.P2073H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P2079H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P2103H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1686H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P2011H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2122H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2122					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P2079H(1)|p.P2122H(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCAGGTCACCCAGTGAGGGC	0.587000													6	4					0.00116845	0.00125471	0.021553	1	0
ANKZF1	55139	broad.mit.edu	37	2	220098104	220098104	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:220098104A>T	ENST00000323348.5	+	7	942	c.768A>T	c.(766-768)tcA>tcT	p.S256S	ANKZF1_ENST00000410034.3_Silent_p.S256S|ANKZF1_ENST00000409849.1_Silent_p.S46S	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	256						intracellular	zinc ion binding	p.S256S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGCCATCACACTCTGCTG	0.522000													11	23					0	0	0.080935	0	0
CD6	923	broad.mit.edu	37	11	60776153	60776153	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:60776153G>T	ENST00000313421.7	+	4	803	c.617G>T	c.(616-618)tGg>tTg	p.W206L	CD6_ENST00000352009.5_Missense_Mutation_p.W206L|CD6_ENST00000346437.4_Missense_Mutation_p.W206L|CD6_ENST00000344028.5_Missense_Mutation_p.W206L|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.W206L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	206	SRCR 2.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.W206L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGCTGCGGCTGGGCAGTCCAG	0.682000													6	5					0.0381472	0.0388143	0.038147	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													8	48					0	0	0.038147	0	0
OR4M2	390538	broad.mit.edu	37	15	22369185	22369185	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:22369185G>T	ENST00000332663.2	+	1	708	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G204C(1)		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)		CTGTAGTAGTGGTCTGATCTC	0.468000													51	178					1.47633e-17	2.40419e-17	0.048971	1	0
TGM7	116179	broad.mit.edu	37	15	43572139	43572139	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:43572139C>T	ENST00000452443.2	-	10	1366	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	454					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.E454E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCTCTCTCCTCAGGGGATC	0.567000													13	31					0	0	0.024245	0	0
AGRN	375790	broad.mit.edu	37	1	981168	981168	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:981168G>A	ENST00000379370.2	+	15	2642	c.2592G>A	c.(2590-2592)ggG>ggA	p.G864G		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	864	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.G864G(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGATGACGGGGCTGTGCTCGT	0.667000													20	37					0	0	0.091800	0	0
PIK3C3	5289	broad.mit.edu	37	18	39537583	39537583	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:39537583G>T	ENST00000262039.4	+	2	203	c.117G>T	c.(115-117)ctG>ctT	p.L39L	PIK3C3_ENST00000590220.1_Intron|PIK3C3_ENST00000398870.3_Intron|PIK3C3_ENST00000586545.1_Silent_p.L39L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	39					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.L39L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAGCTGTCCTGGAAGACCCAA	0.403000										TSP Lung(28;0.18)			11	19					2.80697e-09	3.69643e-09	0.080935	1	0
VWCE	220001	broad.mit.edu	37	11	61040724	61040724	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:61040724C>A	ENST00000335613.5	-	13	2032	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	VWCE_ENST00000535710.1_Missense_Mutation_p.R14L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	549	VWFC 3.					extracellular region	calcium ion binding	p.R549L(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGGCCCAGCCGCCACTCTTC	0.657000													7	28					5.18039e-06	6.03907e-06	0.038147	1	0
ADH1C	126	broad.mit.edu	37	4	100268269	100268269	+	RNA	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:100268269C>A	ENST00000515683.1	-	0	504				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAACCACATGCTCATCTGAAC	0.468000													30	91					6.07407e-21	1.06504e-20	0.034045	1	0
AK5	26289	broad.mit.edu	37	1	77806104	77806104	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:77806104C>A	ENST00000344720.5	+	6	1690	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	AK5_ENST00000354567.2_Missense_Mutation_p.Q248K	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	248					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.Q248K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTGTGCTAATCAGAGACTCAA	0.453000													135	31					2.73285e-76	5.48282e-76	0.048971	1	0
SOX14	8403	broad.mit.edu	37	3	137484280	137484280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:137484280C>A	ENST00000306087.1	+	1	702	c.654C>A	c.(652-654)taC>taA	p.Y218*		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	218					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.Y218*(1)		large_intestine(2)|lung(12)	14						CCGTCGCCTACATCCTCTTCC	0.652000													15	18					7.93312e-07	9.59773e-07	0.020292	1	0
OPLAH	26873	broad.mit.edu	37	8	145113021	145113021	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:145113021C>T	ENST00000426825.1	-	8	1061	c.980G>A	c.(979-981)gGg>gAg	p.G327E	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	327							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.G327E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTCGAATTCCCCAGCATAGCG	0.682000													24	76					0	0	0.091800	0	0
CCDC127	133957	broad.mit.edu	37	5	205950	205950	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:205950C>A	ENST00000296824.3	-	3	377	c.245G>T	c.(244-246)cGg>cTg	p.R82L		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	82								p.R82L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GACAGCACGCCGATTTTCTGA	0.478000													31	26					5.91797e-21	1.04052e-20	0.050027	1	0
CDX4	1046	broad.mit.edu	37	X	72667443	72667443	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:72667443T>C	ENST00000373514.2	+	1	354	c.354T>C	c.(352-354)ccT>ccC	p.P118P		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P118P(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACTTGGGCCCTGTGGGCGGTG	0.662000													8	3					0	0	0.069234	0	0
MPP3	4356	broad.mit.edu	37	17	41909256	41909256	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:41909256C>G	ENST00000398393.1	-	1	354	c.94G>C	c.(94-96)Gac>Cac	p.D32H	MPP3_ENST00000398389.4_Missense_Mutation_p.D7H			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	7	L27 1.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.D7H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TTACCAGAGTCCTCCGATAGC	0.617000													10	5					0	0	0.058154	0	0
SHOX2	6474	broad.mit.edu	37	3	157820574	157820574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:157820574C>A	ENST00000490689.2	-	2	1594	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	SHOX2_ENST00000425436.3_Nonsense_Mutation_p.E150*|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.E150*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.E174*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.E21*|SHOX2_ENST00000554685.1_5'UTR			O60902	SHOX2_HUMAN	short stature homeobox 2	150					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E21*(1)|p.E174*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAGTTGTTCCAGGGTGAAA	0.572000													32	34					8.16721e-17	1.31003e-16	0.045705	1	0
FAM135A	57579	broad.mit.edu	37	6	71195938	71195938	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:71195938A>G	ENST00000370479.3	+	10	1281	c.763A>G	c.(763-765)Aac>Gac	p.N255D	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000418814.2_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.N255D			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	273								p.N255D(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ACAGAAAGACAACCATCTAGG	0.348000													6	20					0	0	0.021553	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19756051	19756051	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr21:19756051C>A	ENST00000284885.3	-	4	422	c.389G>T	c.(388-390)tGg>tTg	p.W130L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	130	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.W130L(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTGACACCCACTGGGCAAA	0.388000													6	7					0.0381472	0.0388143	0.038147	1	0
ZNF716	441234	broad.mit.edu	37	7	57522863	57522863	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:57522863C>A	ENST00000420713.1	+	3	363	c.251C>A	c.(250-252)gCc>gAc	p.A84D		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.A84D(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGATGGTAGCCAAACACCCA	0.438000													16	50					4.14922e-12	5.81072e-12	0.028581	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86568131	86568131	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:86568131T>C	ENST00000450689.2	-	7	1178	c.993A>G	c.(991-993)caA>caG	p.Q331Q	KIAA1324L_ENST00000297222.6_Silent_p.Q91Q|KIAA1324L_ENST00000416314.1_Silent_p.Q164Q|KIAA1324L_ENST00000444627.1_Silent_p.Q331Q	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	331						integral to membrane		p.Q331Q(1)|p.Q91Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACCTGAAAATTGAGAGTCGT	0.378000													23	69					0	0	0.091800	0	0
FOLR3	2352	broad.mit.edu	37	11	71850763	71850763	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:71850763G>A	ENST00000445078.2	+	5	817	c.746G>A	c.(745-747)tGc>tAc	p.C249Y	FOLR3_ENST00000442948.2_Missense_Mutation_p.C208Y|FOLR3_ENST00000456237.1_Missense_Mutation_p.C251Y			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	207					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.C251Y(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGCGGCCGCTGCATCCAGATG	0.592000													30	14					0	0	0.059317	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703910	47703910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:47703910G>A	ENST00000254480.5	-	20	2191	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	691					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.S691L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGGATTTCCTGACTGACTGAA	0.512000													23	30					0	0	0.069288	0	0
OSBPL7	114881	broad.mit.edu	37	17	45893993	45893993	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:45893993G>A	ENST00000007414.3	-	10	1055	c.864C>T	c.(862-864)acC>acT	p.T288T	OSBPL7_ENST00000392507.3_Silent_p.T288T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	288					lipid transport		lipid binding	p.T288T(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCAGCCCACGGGTGCCCGAGG	0.662000													21	4					0	0	0.069288	0	0
CCDC83	220047	broad.mit.edu	37	11	85593700	85593700	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:85593700C>A	ENST00000280245.4	+	4	837	c.325C>A	c.(325-327)Cag>Aag	p.Q109K	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.Q66K|CCDC83_ENST00000342404.3_Missense_Mutation_p.Q109K	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	109								p.Q109K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAAAGAGACCAGGAAAAAAA	0.358000													8	45					0.0581538	0.0588899	0.058154	1	0
TECRL	253017	broad.mit.edu	37	4	65147209	65147209	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:65147209G>C	ENST00000381210.3	-	10	1011	c.901C>G	c.(901-903)Cct>Gct	p.P301A	TECRL_ENST00000507440.1_Missense_Mutation_p.P301A	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	301					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.P301A(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGTAGTTAGGACATGAAACC	0.318000													9	32					0	0	0.069234	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46102028	46102028	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr21:46102028G>A	ENST00000391617.1	-	1	50	c.11C>T	c.(10-12)aCc>aTc	p.T4I	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	4						keratin filament		p.T4I(1)		kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGCAGCTGGTGTGGCACAT	0.662000													13	8					0	0	0.028581	0	0
MARCO	8685	broad.mit.edu	37	2	119726804	119726804	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:119726804C>A	ENST00000327097.4	+	2	301	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	56					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L56I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCTGATCCTGCTCACCGCTGG	0.602000													16	46					1.3612e-06	1.63754e-06	0.024245	1	0
ASXL3	80816	broad.mit.edu	37	18	31324221	31324221	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:31324221C>A	ENST00000269197.5	+	12	4409	c.4409C>A	c.(4408-4410)cCg>cAg	p.P1470Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P1470Q(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGATCAATTCCGTGTAAAGTC	0.517000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	28					1.55795e-14	2.35718e-14	0.062417	1	0
PTPRT	11122	broad.mit.edu	37	20	41101018	41101018	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:41101018G>T	ENST00000373198.3	-	8	1573	c.1338C>A	c.(1336-1338)caC>caA	p.H446Q	PTPRT_ENST00000373193.3_Missense_Mutation_p.H446Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.H446Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.H446Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.H446Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.H446Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.H446Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	446	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H446Q(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGGGTGTAGTGGGAGGAGG	0.617000													5	39					0.0215528	0.0221054	0.021553	1	0
KIAA1199	57214	broad.mit.edu	37	15	81188358	81188358	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:81188358G>T	ENST00000394685.3	+	12	1787	c.1368G>T	c.(1366-1368)gtG>gtT	p.V456V	KIAA1199_ENST00000356249.5_Silent_p.V456V|KIAA1199_ENST00000220244.3_Silent_p.V456V			Q8WUJ3	K1199_HUMAN	KIAA1199	456								p.V456V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTTCCAGGTGCTTCCCTGCA	0.473000													24	48					4.26978e-12	5.9535e-12	0.083992	1	0
AP4E1	23431	broad.mit.edu	37	15	51201079	51201079	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:51201079G>T	ENST00000261842.5	+	1	210	c.104G>T	c.(103-105)aGg>aTg	p.R35M	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	35					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	p.R35M(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCTCCTCGAGGCTGGGCAGC	0.701000													11	4					1.08611e-07	1.35763e-07	0.080935	1	0
COL6A3	1293	broad.mit.edu	37	2	238280799	238280799	+	Missense_Mutation	SNP	G	G	C	rs113247852		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:238280799G>C	ENST00000295550.4	-	9	4313	c.3861C>G	c.(3859-3861)aaC>aaG	p.N1287K	COL6A3_ENST00000392003.2_Missense_Mutation_p.N880K|COL6A3_ENST00000347401.3_Missense_Mutation_p.N1086K|COL6A3_ENST00000346358.4_Missense_Mutation_p.N1087K|COL6A3_ENST00000392004.3_Missense_Mutation_p.N1081K|COL6A3_ENST00000472056.1_Missense_Mutation_p.N680K|COL6A3_ENST00000409809.1_Missense_Mutation_p.N1081K|COL6A3_ENST00000353578.4_Missense_Mutation_p.N1081K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1287	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.N1081K(1)|p.N1287K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGAATGGGCGTTCAGCAGGA	0.602000													25	23					0	0	0.108266	0	0
HINFP	25988	broad.mit.edu	37	11	119005060	119005060	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:119005060A>T	ENST00000350777.2	+	10	1469	c.1406A>T	c.(1405-1407)cAg>cTg	p.Q469L		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	469	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.Q469L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTGAATCAGACCAATGCC	0.597000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	21					0	0	0.034045	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627409	140627409	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140627409C>A	ENST00000231173.3	+	1	2263	c.2263C>A	c.(2263-2265)Ctg>Atg	p.L755M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		755					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L755M(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGTGTGTCTGACGGGAGG	0.522000													83	119					1.68136e-41	3.30083e-41	0.048971	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117432001	117432001	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:117432001G>T	ENST00000160373.3	-	4	1340	c.1249C>A	c.(1249-1251)Cct>Act	p.P417T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	417	Pro-rich.							p.P417T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGTTCTGAGGAGCTATGCCT	0.527000													55	61					1.48341e-19	2.5659e-19	0.048971	1	0
RELN	5649	broad.mit.edu	37	7	103234901	103234901	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103234901G>T	ENST00000428762.1	-	26	3737	c.3578C>A	c.(3577-3579)cCt>cAt	p.P1193H	RELN_ENST00000343529.5_Missense_Mutation_p.P1193H|RELN_ENST00000424685.2_Missense_Mutation_p.P1193H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1193					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.P1193N(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTGGTGCAAGGGGTCTTGGC	0.483000													32	117					2.47316e-13	3.58104e-13	0.059317	1	0
TLR7	51284	broad.mit.edu	37	X	12904999	12904999	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:12904999C>A	ENST00000380659.3	+	3	1511	c.1372C>A	c.(1372-1374)Cag>Aag	p.Q458K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	458					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.Q458K(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTATGAACCCCAGGTCCTGGA	0.368000													68	14					7.75977e-34	1.47805e-33	0.048971	1	0
SLITRK3	22865	broad.mit.edu	37	3	164907292	164907292	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:164907292G>T	ENST00000475390.1	-	2	1770	c.1327C>A	c.(1327-1329)Cgt>Agt	p.R443S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R443S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	443						integral to membrane		p.R443S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGGAAATACGATTGTTCCCC	0.408000										HNSCC(40;0.11)			21	31					2.37509e-13	3.44685e-13	0.055883	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18143374	18143374	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:18143374C>T	ENST00000278816.2	+	7	2106	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.P485S|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.P486S|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P358S			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	486					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	p.P486S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGCCATGACTCCGGAAGCTCG	0.502000													19	55					0	0	0.049695	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776906	18776906	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:18776906G>T	ENST00000380548.4	+	19	3018	c.2679G>T	c.(2677-2679)acG>acT	p.T893T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	893	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.T893T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCCCAAGACGGCGGTGGTGC	0.682000													37	4					9.62906e-15	1.47784e-14	0.086207	1	0
BRE	9577	broad.mit.edu	37	2	28521329	28521329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:28521329G>T	ENST00000344773.2	+	11	1197	c.1059G>T	c.(1057-1059)tgG>tgT	p.W353C	BRE_ENST00000379632.2_Missense_Mutation_p.W353C|BRE_ENST00000342045.2_Missense_Mutation_p.W353C|BRE_ENST00000379624.1_Missense_Mutation_p.W353C|BRE_ENST00000361704.2_Missense_Mutation_p.W353C	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	353	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.W353F(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCCCCAGATGGGATGGAAATG	0.438000													43	46					1.57019e-19	2.70141e-19	0.098360	1	0
OR10G9	219870	broad.mit.edu	37	11	123894507	123894507	+	Missense_Mutation	SNP	C	C	T	rs148745928		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:123894507C>T	ENST00000375024.1	+	1	788	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S263F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGACCAGGCTCCAGGGACGTC	0.517000													11	126					0	0	0.020292	0	0
ABCC12	94160	broad.mit.edu	37	16	48145573	48145573	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:48145573C>A	ENST00000311303.3	-	15	2470	c.2124_splice	c.e15-1	p.D709_splice	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Splice_Site_p.D709_splice	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	709						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D709Y(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTCAGGATCCTGGAGACAA	0.507000													47	130					1.23713e-20	2.16328e-20	0.048971	1	0
MIRLET7A2	406882	broad.mit.edu	37	11	122017300	122017300	+	RNA	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:122017300C>G	ENST00000362105.1	-	0	1					NR_029477.1																						CTACCTCAACCTGGGAGCATG	0.413000													17	61					0	0	0.043863	0	0
LRP1B	53353	broad.mit.edu	37	2	141458109	141458109	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:141458109C>A	ENST00000389484.3	-	41	7480	c.6509G>T	c.(6508-6510)tGt>tTt	p.C2170F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2170	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C2170F(1)		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)		TCCATGGGCACAAGCACAAGT	0.403000										TSP Lung(27;0.18)			27	71					3.65163e-15	5.6587e-15	0.030593	1	0
CAPG	822	broad.mit.edu	37	2	85628374	85628374	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:85628374C>T	ENST00000263867.4	-	5	679	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	CAPG_ENST00000409670.1_Missense_Mutation_p.G144R|CAPG_ENST00000409724.1_Missense_Mutation_p.G144R|CAPG_ENST00000409921.1_Missense_Mutation_p.G144R|CAPG_ENST00000483659.1_5'UTR	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	144					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	p.G144R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTCTTCTTCCCCTTCACCTGG	0.597000													20	58					0	0	0.069288	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750841	140750841	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140750841C>A	ENST00000576222.1	+	1	1011	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTTCAAGCTGGACAGTAA	0.448000													52	73					9.59835e-30	1.80145e-29	0.048971	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37451731	37451731	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:37451731C>A	ENST00000374660.1	+	17	1888	c.1789C>A	c.(1789-1791)Cca>Aca	p.P597T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P597T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P597T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	653						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P597T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAGTCTGTCCCAAATAAAGC	0.313000													42	17					6.21074e-16	9.81451e-16	0.042209	1	0
QSOX2	169714	broad.mit.edu	37	9	139107123	139107123	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:139107123T>C	ENST00000358701.5	-	10	1274	c.1237A>G	c.(1237-1239)Ata>Gta	p.I413V		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	413					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.I413V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACCCACTTTATGTGATTAGTA	0.393000													16	9					0	0	0.033300	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299759	125299759	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:125299759C>A	ENST00000538699.1	-	2	229	c.149G>T	c.(148-150)aGg>aTg	p.R50M	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R50M	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	50								p.R50M(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTGCACCAGCCTGCGACGCGT	0.726000													20	3					6.33239e-15	9.76561e-15	0.055883	1	0
NHLRC3	387921	broad.mit.edu	37	13	39621177	39621177	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:39621177G>T	ENST00000379600.3	+	6	1001	c.678_splice	c.e6-1	p.V227_splice	NHLRC3_ENST00000379599.2_Splice_Site_p.V160_splice|NHLRC3_ENST00000470258.1_Splice_Site_p.V30_splice	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	227						extracellular region		p.V227L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TGTTTCTCAGGTGTGGGTTGC	0.358000													21	12					7.41877e-09	9.67009e-09	0.062417	1	0
MUC6	4588	broad.mit.edu	37	11	1018123	1018123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:1018123G>T	ENST00000421673.2	-	31	4728	c.4678C>A	c.(4678-4680)Cac>Aac	p.H1560N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1560	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.H1560N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTTGGTGTGGGCCACAGGG	0.582000													9	174					1.99824e-07	2.46411e-07	0.033300	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88292465	88292465	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:88292465T>A	ENST00000357081.3	-	6	466	c.322A>T	c.(322-324)Aaa>Taa	p.K108*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.K108*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.K50*|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.K108*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.K160*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.K50*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	108					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.K108*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GAACCACCTTTGGTGACTAAG	0.299000													16	42					0	0	0.038395	0	0
SLC24A5	283652	broad.mit.edu	37	15	48413249	48413249	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:48413249C>T	ENST00000482911.2	+	1	49	c.8C>T	c.(7-9)aCa>aTa	p.T3I	SLC24A5_ENST00000449382.2_Missense_Mutation_p.T3I|SLC24A5_ENST00000341459.3_Missense_Mutation_p.T3I			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	3					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.T3I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAAATGCAGACAAAAGGGGGC	0.562000													3	26					0	0	0.004672	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26157085	26157085	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:26157085A>G	ENST00000304218.3	+	1	527	c.467A>G	c.(466-468)aAg>aGg	p.K156R		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	156					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K156R(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGACCCCAAAGAAGGCGAAG	0.627000													5	6					0	0	0.014758	0	0
ZNF484	83744	broad.mit.edu	37	9	95609812	95609812	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:95609812C>A	ENST00000395505.2	-	3	1241	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	ZNF484_ENST00000375495.3_Missense_Mutation_p.K419N|ZNF484_ENST00000395506.3_Missense_Mutation_p.K421N|ZNF484_ENST00000332591.6_Missense_Mutation_p.K383N|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K419N(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGATAAAGGCCTTCCCACATT	0.358000													26	35					1.1804e-14	1.80299e-14	0.091800	1	0
ATP9A	10079	broad.mit.edu	37	20	50310572	50310572	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:50310572C>A	ENST00000338821.5	-	7	881	c.617G>T	c.(616-618)tGc>tTc	p.C206F	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	206					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	p.C206F(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTCTGCGTGCAGGCCACGGG	0.632000													34	15					3.77016e-25	6.81611e-25	0.045515	1	0
NOX5	79400	broad.mit.edu	37	15	69327796	69327796	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:69327796G>T	ENST00000260364.5	+	7	1205	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	NOX5_ENST00000455873.3_Missense_Mutation_p.V285L|NOX5_ENST00000388866.3_Missense_Mutation_p.V320L|NOX5_ENST00000448182.3_Missense_Mutation_p.V274L|NOX5_ENST00000530406.2_Missense_Mutation_p.V292L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	320	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.V302L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TATGGGCTACGTGGTAGTGGG	0.612000													20	19					1.2644e-06	1.52683e-06	0.055883	1	0
ASCC3	10973	broad.mit.edu	37	6	101214441	101214441	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:101214441C>A	ENST00000369162.2	-	10	2081	c.1737_splice	c.e10+1	p.Q579_splice	ASCC3_ENST00000522650.1_Splice_Site_p.Q579_splice	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	579	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q579H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACAACATACCTGAGTTCGTA	0.308000													33	36					4.4194e-11	6.04363e-11	0.054565	1	0
TMPRSS11E	28983	broad.mit.edu	37	4	69340476	69340476	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:69340476C>A	ENST00000305363.4	+	6	590	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	176					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.H176N(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTATCTAAACCATTGTAAGtt	0.338000													31	106					6.00712e-18	9.98587e-18	0.050027	1	0
LVRN	206338	broad.mit.edu	37	5	115361800	115361800	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:115361800A>G	ENST00000357872.4	+	20	3082	c.2958A>G	c.(2956-2958)ctA>ctG	p.L986L	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		986					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.L986L(1)									CTGCGTGGCTAAGGAGAAACA	0.403000													21	21					0	0	0.069288	0	0
OGG1	4968	broad.mit.edu	37	3	9807579	9807579	+	Silent	SNP	C	C	T	rs150915328		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:9807579C>T	ENST00000302036.7	+	7	1378	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000349503.5_Silent_p.I278I|CAMK1_ENST00000256460.3_Intron	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	335					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	p.?(1)|p.I345I(1)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCCCCCCTATCGGGAGAGGGG	0.582000								Base excision repair (BER), DNA glycosylases					17	26					0	0	0.028581	0	0
COL14A1	7373	broad.mit.edu	37	8	121228707	121228707	+	Missense_Mutation	SNP	C	C	G	rs150549316		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:121228707C>G	ENST00000297848.3	+	14	1985	c.1715C>G	c.(1714-1716)gCa>gGa	p.A572G	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.A572G|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.A477G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	572	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A572G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATAACAATGCAGATGGGACT	0.388000													70	65					0	0	0.048971	0	0
CARD6	84674	broad.mit.edu	37	5	40853331	40853331	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:40853331A>G	ENST00000254691.5	+	3	2096	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	633					apoptosis|regulation of apoptosis	intracellular		p.M633V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAGGAAGTGATGTTCTCTTC	0.527000													66	75					0	0	0.048971	0	0
FLNB	2317	broad.mit.edu	37	3	58138445	58138445	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:58138445C>A	ENST00000357272.4	+	39	6543	c.6378C>A	c.(6376-6378)gtC>gtA	p.V2126V	FLNB_ENST00000429972.2_Intron|FLNB_ENST00000419752.2_Intron|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000295956.4_Intron|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000493452.1_Intron|FLNB_ENST00000490882.1_Intron			O75369	FLNB_HUMAN	filamin B, beta	2126	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGTCAGAGTCATGAACTGCT	0.537000													6	5					5.9392e-07	7.21269e-07	0.021553	1	0
CSN2	1447	broad.mit.edu	37	4	70823408	70823408	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:70823408G>A	ENST00000353151.3	-	5	270	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	87					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	p.P87S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ACCACAGCAGGCTGAGCAAGA	0.473000													13	48					0	0	0.020292	0	0
BAI2	576	broad.mit.edu	37	1	32222212	32222212	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:32222212T>A	ENST00000373658.3	-	4	567	c.226A>T	c.(226-228)Aag>Tag	p.K76*	BAI2_ENST00000373655.2_Nonsense_Mutation_p.K76*|BAI2_ENST00000398547.1_Nonsense_Mutation_p.K64*|BAI2_ENST00000398556.3_Nonsense_Mutation_p.K79*|BAI2_ENST00000398542.1_Nonsense_Mutation_p.K64*|BAI2_ENST00000527361.1_Nonsense_Mutation_p.K76*|BAI2_ENST00000257070.4_Nonsense_Mutation_p.K76*|BAI2_ENST00000398538.1_Nonsense_Mutation_p.K64*	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	76					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K76*(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGGGAGTACTTGGTGGGGTCA	0.642000													6	11					0	0	0.029380	0	0
RELN	5649	broad.mit.edu	37	7	103292158	103292158	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103292158A>T	ENST00000428762.1	-	15	2001	c.1842T>A	c.(1840-1842)gcT>gcA	p.A614A	RELN_ENST00000343529.5_Silent_p.A614A|RELN_ENST00000424685.2_Silent_p.A614A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	614					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A614A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGGGGTCCAGCACAGATCT	0.473000													7	35					0	0	0.029380	0	0
LATS2	26524	broad.mit.edu	37	13	21549289	21549289	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:21549289G>A	ENST00000382592.4	-	8	3392	c.2987C>T	c.(2986-2988)cCc>cTc	p.P996L	LATS2_ENST00000542899.1_Missense_Mutation_p.P996L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	996	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P996L(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTGTCCATGGGGTGGCTGAT	0.597000													16	55					0	0	0.043863	0	0
TLX1	3195	broad.mit.edu	37	10	102894055	102894055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:102894055G>T	ENST00000370196.6	+	2	2734	c.692G>T	c.(691-693)cGc>cTc	p.R231L	TLX1_ENST00000467928.2_Missense_Mutation_p.R231L			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R231L(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCGGCCGAGCGCGCCGCCCTG	0.657000			T	"""TRB@, TRD@"""	T-ALL								6	9					8.12818e-05	9.09447e-05	0.029380	1	0
MYT1	4661	broad.mit.edu	37	20	62853402	62853402	+	Splice_Site	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:62853402T>G	ENST00000536311.1	+	14	2841		c.e14+2		MYT1_ENST00000328439.1_Splice_Site|MYT1_ENST00000360149.4_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCTGCTCACGTAAGTCCCTGT	0.562000													6	46					0	0	0.038147	0	0
FYN	2534	broad.mit.edu	37	6	112025246	112025246	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:112025246T>A	ENST00000354650.3	-	7	1109	c.503A>T	c.(502-504)aAc>aTc	p.N168I	FYN_ENST00000229470.5_Missense_Mutation_p.N119I|FYN_ENST00000229471.4_Missense_Mutation_p.N168I|FYN_ENST00000538466.1_Missense_Mutation_p.N168I|FYN_ENST00000368678.4_Missense_Mutation_p.N168I|FYN_ENST00000368682.3_Missense_Mutation_p.N168I|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000356013.2_Missense_Mutation_p.N168I|FYN_ENST00000368667.2_Missense_Mutation_p.N168I	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	168	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	p.N168I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ACCTCTTGGGTTTCCAAAGGA	0.393000													33	20					0	0	0.064281	0	0
RYR2	6262	broad.mit.edu	37	1	237789102	237789102	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237789102C>A	ENST00000366574.2	+	40	6481	c.6164C>A	c.(6163-6165)tCc>tAc	p.S2055Y	RYR2_ENST00000360064.6_Missense_Mutation_p.S2053Y|RYR2_ENST00000542537.1_Missense_Mutation_p.S2039Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2055	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	p.S2053Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCAAAAAGTCCTGTAAGCAG	0.423000													6	16					3.59834e-05	4.06879e-05	0.021553	1	0
HYDIN	54768	broad.mit.edu	37	16	70908242	70908242	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:70908242G>T	ENST00000393567.2	-	64	11064	c.10914C>A	c.(10912-10914)atC>atA	p.I3638I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3638								p.I3637I(1)|p.I3589I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCCTCGATGATCTCTGTGA	0.488000													15	93					0.00498961	0.005235	0.033300	1	0
FHOD3	80206	broad.mit.edu	37	18	34191968	34191968	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:34191968G>T	ENST00000257209.4	+	9	989	c.867G>T	c.(865-867)ctG>ctT	p.L289L	FHOD3_ENST00000445677.1_Silent_p.L289L|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Silent_p.L289L|FHOD3_ENST00000359247.4_Silent_p.L289L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	289	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L289L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGGACTGCCTGGAGGAGCTGG	0.522000													12	19					2.68362e-12	3.79982e-12	0.093190	1	0
DNMT3B	1789	broad.mit.edu	37	20	31388040	31388040	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:31388040G>T	ENST00000328111.2	+	17	2162	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	DNMT3B_ENST00000456297.2_Missense_Mutation_p.G518V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G606V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G594V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G594V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G552V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G594V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	614					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.G606V(1)|p.G614V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGCTGTTGGAACCGTGAAG	0.502000													31	44					9.93527e-08	1.25169e-07	0.054565	1	0
PLCG2	5336	broad.mit.edu	37	16	81888159	81888159	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:81888159A>T	ENST00000359376.3	+	3	518	c.304A>T	c.(304-306)Act>Tct	p.T102S	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	102	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T102S(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTATATGGCACTCAGTTCGT	0.493000													54	38					0	0	0.048971	0	0
POTEF	728378	broad.mit.edu	37	2	130832725	130832725	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:130832725C>A	ENST00000357462.5	-	15	2413	c.2320G>T	c.(2320-2322)Ggc>Tgc	p.G774C	POTEF_ENST00000409914.2_Missense_Mutation_p.G774C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	774	Actin-like.					cell cortex	ATP binding	p.G774C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGATGATGCCGTGTTCCATG	0.582000													33	52					3.38236e-24	6.08064e-24	0.092188	1	0
CPNE5	57699	broad.mit.edu	37	6	36724072	36724072	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:36724072C>A	ENST00000244751.2	-	13	1483	c.859G>T	c.(859-861)Gta>Tta	p.V287L	CPNE5_ENST00000393189.2_5'UTR|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	287								p.V287L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTCGGGTTTACCACCTGCAGG	0.527000													7	20					5.18039e-06	6.03907e-06	0.038147	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055719	40055719	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:40055719C>A	ENST00000336649.4	+	17	2484	c.2484C>A	c.(2482-2484)gaC>gaA	p.D828E	CACNA1I_ENST00000407673.1_Missense_Mutation_p.D787E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D822E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D787E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D822E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D787E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	822					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.D822E(1)|p.D787E(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCAGGAGGACTGGAACGTCG	0.582000													50	38					9.59835e-30	1.80145e-29	0.048971	1	0
RP1L1	94137	broad.mit.edu	37	8	10480505	10480505	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:10480505G>T	ENST00000382483.3	-	2	430	c.207C>A	c.(205-207)tcC>tcA	p.S69S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	69					intracellular signal transduction			p.S69S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACGCGCTGGGAGAGCTCGT	0.652000													6	12					3.59834e-05	4.06879e-05	0.021553	1	0
GJA4	2701	broad.mit.edu	37	1	35260672	35260672	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:35260672C>A	ENST00000342280.4	+	2	946	c.858C>A	c.(856-858)tcC>tcA	p.S286S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	286					cell-cell junction assembly	integral to plasma membrane		p.S286S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCTCTCATCCAGTGAGCAGA	0.627000													4	11					0.00116845	0.00125471	0.021553	1	0
DBF4	10926	broad.mit.edu	37	7	87537065	87537065	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:87537065A>G	ENST00000265728.1	+	12	2116	c.1612A>G	c.(1612-1614)Agt>Ggt	p.S538G		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	538					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.S538G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AACAATAAACAGTTCACAAGA	0.393000													20	55					0	0	0.076483	0	0
PXDN	7837	broad.mit.edu	37	2	1667392	1667392	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:1667392T>A	ENST00000252804.4	-	12	1602	c.1552A>T	c.(1552-1554)Act>Tct	p.T518S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	518	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.T518S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGCTGCACAGTCAGGTGGGCC	0.532000													42	36					0	0	0.048971	0	0
PCDH15	65217	broad.mit.edu	37	10	56106127	56106127	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:56106127G>T	ENST00000373965.2	-	6	986	c.592C>A	c.(592-594)Ccg>Acg	p.P198T	PCDH15_ENST00000395440.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395442.1_Missense_Mutation_p.P198T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P198T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P198T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P176T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P198T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P198T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P198T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P198T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P203T|PCDH15_ENST00000373957.3_Missense_Mutation_p.P176T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P198T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	198	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P203T(2)|p.P198T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTACATACCGGATCATCTGGA	0.308000										HNSCC(58;0.16)			23	31					5.26018e-13	7.54824e-13	0.062417	1	0
FAM71B	153745	broad.mit.edu	37	5	156590160	156590160	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:156590160C>A	ENST00000302938.4	-	2	1211	c.1116G>T	c.(1114-1116)ttG>ttT	p.L372F		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	372						nucleus		p.L372F(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGCCGCACTCAAGCTGCTGT	0.577000													11	17					1.08611e-07	1.35763e-07	0.080935	1	0
COL11A1	1301	broad.mit.edu	37	1	103440391	103440391	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:103440391G>T	ENST00000358392.2	-	36	3156	c.2839C>A	c.(2839-2841)Cct>Act	p.P947T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P819T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P896T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P935T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	935	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	p.P935T(1)|p.P947T(1)		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)		CTTACAGGAGGGCCTTTTGGT	0.383000													11	19					2.27111e-07	2.79521e-07	0.093190	1	0
FGF14	2259	broad.mit.edu	37	13	102527578	102527578	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:102527578C>A	ENST00000376131.4	-	2	372	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	FGF14_ENST00000376143.4_Missense_Mutation_p.D88Y|FGF14_ENST00000468052.1_5'UTR	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	88					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.D93Y(1)|p.D88Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCTCCATCGGGGTGCATT	0.453000													10	17					1.58986e-06	1.89835e-06	0.069234	1	0
DZIP1L	199221	broad.mit.edu	37	3	137822452	137822452	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:137822452T>A	ENST00000327532.2	-	2	724	c.362A>T	c.(361-363)cAg>cTg	p.Q121L	DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q121L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	121						intracellular	zinc ion binding	p.Q121L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACGCTGCTGCTGGCCCAGGCT	0.662000													5	7					0	0	0.038147	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390847	208390847	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:208390847G>A	ENST00000367033.3	-	2	1178	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	141	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.R141W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCATCCAGCCGCAGCAGCTTG	0.572000													36	87					0	0	0.092188	0	0
KCNE4	23704	broad.mit.edu	37	2	223917913	223917913	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:223917913G>T	ENST00000281830.3	+	2	849	c.518G>T	c.(517-519)gGg>gTg	p.G173V	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.G122V			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	122						integral to membrane	voltage-gated potassium channel activity	p.G122V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCATGGAAGGGGACAGCGTG	0.667000													7	30					3.09899e-07	3.79226e-07	0.047766	1	0
ASPM	259266	broad.mit.edu	37	1	197065223	197065223	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:197065223C>A	ENST00000367409.4	-	19	9148	c.8892G>T	c.(8890-8892)tgG>tgT	p.W2964C	ASPM_ENST00000294732.7_Missense_Mutation_p.W1379C|ASPM_ENST00000367408.1_Missense_Mutation_p.W629C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2964	IQ 35.				mitosis	cytoplasm|nucleus	calmodulin binding	p.W2964C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AACATCTATACCAGGCTTGAA	0.333000													94	84					1.61169e-53	3.20335e-53	0.048971	1	0
DUS3L	56931	broad.mit.edu	37	19	5788169	5788169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:5788169G>A	ENST00000309061.7	-	5	1057	c.961C>T	c.(961-963)Cga>Tga	p.R321*	DUS3L_ENST00000320699.8_Nonsense_Mutation_p.R79*	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	321					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.R321G(1)|p.R321*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGATCCGTCGGAAGGGCAGG	0.617000													29	9					0	0	0.045705	0	0
CHM	1121	broad.mit.edu	37	X	85233835	85233835	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:85233835C>G	ENST00000357749.2	-	4	279	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	CHM_ENST00000537751.1_Intron|CHM_ENST00000467744.1_Intron|CHM_ENST00000358786.4_Missense_Mutation_p.E84Q	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	84					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.E84Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GCAATGGCTTCTTCATTTTCA	0.363000													40	7					0	0	0.104719	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580803	99580803	+	RNA	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:99580803C>A	ENST00000425474.1	+	0	124					NR_036679.1																						ACTGGGCTGTCCAGGTCTGGC	0.557000													7	4					5.18039e-06	6.03907e-06	0.038147	1	0
HCRTR2	3062	broad.mit.edu	37	6	55119937	55119937	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:55119937G>T	ENST00000370862.3	+	3	742	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	136					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.V136L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTCTAGACCGTGTCGGTGTC	0.413000													19	19					1.9806e-07	2.4518e-07	0.069288	1	0
SCAP	22937	broad.mit.edu	37	3	47460980	47460980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:47460980G>T	ENST00000265565.5	-	13	2190	c.1778C>A	c.(1777-1779)tCg>tAg	p.S593*	SCAP_ENST00000441517.2_Nonsense_Mutation_p.S338*|SCAP_ENST00000545718.1_Nonsense_Mutation_p.S201*	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	593					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.S593*(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCGCCTGGCGACGTCTGGTT	0.632000													33	53					1.08312e-15	1.70738e-15	0.041601	1	0
ZBTB11	27107	broad.mit.edu	37	3	101370100	101370100	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:101370100T>A	ENST00000312938.4	-	11	3652	c.3072A>T	c.(3070-3072)ttA>ttT	p.L1024F		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1024					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L1024F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTGTTGTGCTAATACATAAT	0.383000													33	79					0	0	0.054565	0	0
FZD9	8326	broad.mit.edu	37	7	72849355	72849355	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:72849355C>G	ENST00000344575.3	+	1	1247	c.1018C>G	c.(1018-1020)Ctg>Gtg	p.L340V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	340					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L340V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGGTTCCTGGCTGCCGG	0.642000													26	35					0	0	0.045705	0	0
SKOR1	390598	broad.mit.edu	37	15	68119376	68119376	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:68119376G>T	ENST00000380035.2	+	2	1268	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	SKOR1_ENST00000341418.5_Missense_Mutation_p.G511C|SKOR1_ENST00000554240.1_Missense_Mutation_p.G365C|SKOR1_ENST00000554054.1_Missense_Mutation_p.G376C|SKOR1_ENST00000389002.1_Missense_Mutation_p.G360C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	404					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	p.G404C(1)|p.G360C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TACGGCCTTCGGCCTATGCCC	0.677000													7	18					0.000157383	0.00017487	0.038147	1	0
PCDHA13	56136	broad.mit.edu	37	5	140263227	140263227	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140263227C>A	ENST00000289272.2	+	1	1374	c.1374C>A	c.(1372-1374)ccC>ccA	p.P458P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P458P|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P458P(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGCCCGAGTACACGG	0.682000													38	44					9.84934e-19	1.65448e-18	0.039052	1	0
CHORDC1	26973	broad.mit.edu	37	11	89944475	89944475	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:89944475G>C	ENST00000320585.6	-	5	750	c.341C>G	c.(340-342)cCa>cGa	p.P114R	CHORDC1_ENST00000457199.2_Missense_Mutation_p.P95R	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	114	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.P114R(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ATTTGTCATTGGTTCATCTGG	0.299000													64	38					0	0	0.048971	0	0
OR11A1	26531	broad.mit.edu	37	6	29394980	29394980	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:29394980C>A	ENST00000377149.1	-	5	911	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	OR11A1_ENST00000377148.1_Missense_Mutation_p.V147F|OR11A1_ENST00000377147.2_Missense_Mutation_p.V147F|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V147F(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAGGTTGTGACCACCAGCCCC	0.567000													13	31					1.5842e-08	2.04826e-08	0.105934	1	0
ZIC4	84107	broad.mit.edu	37	3	147114004	147114004	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:147114004G>C	ENST00000383075.3	-	3	835	c.323C>G	c.(322-324)gCt>gGt	p.A108G	ZIC4_ENST00000525172.2_Missense_Mutation_p.A158G|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.A146G|ZIC4_ENST00000484399.1_Missense_Mutation_p.A108G|ZIC4_ENST00000473123.1_Missense_Mutation_p.A108G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	108						nucleus	DNA binding|zinc ion binding	p.A108G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGGGGCGCAGCGAGGTTCAC	0.711000													9	12					0	0	0.047766	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717484	110717484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:110717484G>T	ENST00000331565.4	+	5	1140	c.655G>T	c.(655-657)Gag>Tag	p.E219*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	219					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.E219*(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTCCATCTCGGAGAGTGGGGG	0.572000													9	17					0.000442599	0.00048504	0.058154	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481152	95481152	+	RNA	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:95481152A>G	ENST00000432432.2	-	0	2208					NR_040113.1																						TGTTTTTCTTAGGTCATTTTG	0.343000													87	67					0	0	0.048971	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386406	41386406	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:41386406G>A	ENST00000301146.4	-	3	1012	c.471C>T	c.(469-471)atC>atT	p.I157I	CYP2A7_ENST00000291764.3_Silent_p.I106I|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	157						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I157I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCTCGATGAGGAAGC	0.662000													18	18					0	0	0.049695	0	0
CHEK2	11200	broad.mit.edu	37	22	29121263	29121263	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:29121263T>C	ENST00000382580.2	-	4	616	c.541A>G	c.(541-543)Aca>Gca	p.T181A	CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382566.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.T138A|CHEK2_ENST00000348295.3_Missense_Mutation_p.T138A|CHEK2_ENST00000405598.1_Missense_Mutation_p.T138A|CHEK2_ENST00000544772.1_5'UTR	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	138			R -> C (in prostate cancer; somatic mutation).|R -> H (in prostate cancer; somatic mutation).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T138A(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTGCTGTATGTTCGGTATTTA	0.373000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					33	83					0	0	0.059317	0	0
DBF4	10926	broad.mit.edu	37	7	87530130	87530130	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:87530130G>A	ENST00000265728.1	+	10	1365	c.861G>A	c.(859-861)ttG>ttA	p.L287L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	287					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.L287L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AACTCCAGTTGAAAGAGAAGA	0.353000													28	77					0	0	0.045705	0	0
C1orf105	92346	broad.mit.edu	37	1	172425554	172425554	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:172425554G>T	ENST00000367727.4	+	4	396		c.e4-1		C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Splice_Site	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105									p.?(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTTCCCCTCAGGCCAGGAGGA	0.507000													18	73					7.87624e-14	1.16956e-13	0.076483	1	0
LRIF1	55791	broad.mit.edu	37	1	111495357	111495357	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:111495357T>A	ENST00000494675.1	-	0	226				LRIF1_ENST00000369763.4_Missense_Mutation_p.K50M|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron			Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.K50M(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCAGAAGACTTAGGAATTGG	0.378000													12	25					0	0	0.093190	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321559	79321559	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:79321559C>A	ENST00000428286.1	-	8	5754	c.4554G>T	c.(4552-4554)gaG>gaT	p.E1518D	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1877D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1877					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.E1877D(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCCACGGGCTCAATATCAC	0.463000													9	10					1.12685e-05	1.29477e-05	0.047766	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33535098	33535098	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:33535098C>A	ENST00000504830.1	-	23	4782		c.e23-1		ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.?(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGTGGAACACTGAAAGAGAA	0.488000										HNSCC(64;0.19)			8	28					2.17888e-05	2.48128e-05	0.058154	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	42					0	0	0.021553	0	0
MRPS31	10240	broad.mit.edu	37	13	41345263	41345263	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:41345263T>C	ENST00000323563.6	-	1	46	c.10A>G	c.(10-12)Aga>Gga	p.R4G		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	4						mitochondrion|ribosome	protein domain specific binding	p.R4G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GTCGAGACTCTAGGAAACATC	0.582000													16	25					0	0	0.076483	0	0
CR1	1378	broad.mit.edu	37	1	207741314	207741314	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:207741314C>A	ENST00000367049.4	+	25	4098	c.4098C>A	c.(4096-4098)agC>agA	p.S1366R	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.S916R|CR1_ENST00000367051.1_Missense_Mutation_p.S916R|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.S916R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	916	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.S921R(1)|p.S1366R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGAGAGAGCACCATCCGCT	0.542000													24	46					1.64293e-13	2.39517e-13	0.083992	1	0
GORAB	92344	broad.mit.edu	37	1	170521423	170521423	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:170521423A>G	ENST00000367763.3	+	5	1025	c.1005A>G	c.(1003-1005)ccA>ccG	p.P335P		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	335	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus		p.P335P(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TAGAGAGGCCATTTCAGCCTG	0.463000													17	26					0	0	0.033300	0	0
ERBB2	2064	broad.mit.edu	37	17	37865605	37865605	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:37865605C>T	ENST00000406381.2	+	6	894	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ERBB2_ENST00000269571.5_Silent_p.N158N|ERBB2_ENST00000540042.1_Silent_p.N128N|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Silent_p.N128N|ERBB2_ENST00000541774.1_Silent_p.N143N|ERBB2_ENST00000584601.1_Silent_p.N128N|ERBB2_ENST00000540147.1_Silent_p.N128N|ERBB2_ENST00000584450.1_Silent_p.N158N	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	158					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.N158N(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCAGCGGAACCCCCAGCTCT	0.557000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			21	28					0	0	0.055883	0	0
HECTD4	283450	broad.mit.edu	37	12	112622286	112622286	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:112622286C>A	ENST00000550722.1	-	61	10441	c.10046G>T	c.(10045-10047)tGc>tTc	p.C3349F	HECTD4_ENST00000430131.2_Missense_Mutation_p.C3073F|HECTD4_ENST00000377560.5_Missense_Mutation_p.C3323F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.C3323F(1)|p.C3073F(1)									CTGCGAGCTGCAGATGGAGGC	0.687000													7	9					5.18039e-06	6.03907e-06	0.038147	1	0
PARK2	5071	broad.mit.edu	37	6	161969941	161969941	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:161969941G>T	ENST00000366898.1	-	9	1130	c.1028C>A	c.(1027-1029)cCg>cAg	p.P343Q	PARK2_ENST00000366892.1_Missense_Mutation_p.P343Q|PARK2_ENST00000338468.3_Missense_Mutation_p.P152Q|PARK2_ENST00000366894.1_Missense_Mutation_p.P152Q|PARK2_ENST00000366896.1_Missense_Mutation_p.P194Q|PARK2_ENST00000366897.1_Missense_Mutation_p.P315Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	343					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.P343Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637000													52	18					3.76525e-18	6.27541e-18	0.048971	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906583	13906583	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:13906583G>T	ENST00000279593.3	-	3	887	c.678C>A	c.(676-678)ccC>ccA	p.P226P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	226					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P226P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGAATGATGGGGCTTTGAA	0.507000													116	49					1.90269e-63	3.80539e-63	0.048971	1	0
CPS1	1373	broad.mit.edu	37	2	211465353	211465353	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:211465353A>T	ENST00000233072.5	+	15	1820	c.1624A>T	c.(1624-1626)Atg>Ttg	p.M542L	CPS1_ENST00000430249.2_Missense_Mutation_p.M548L|CPS1_ENST00000451903.2_Missense_Mutation_p.M91L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	542					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.M542L(1)|p.M548L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGAGTCCATTATGGCTACGGA	0.403000													24	82					0	0	0.091800	0	0
GRIK2	2898	broad.mit.edu	37	6	102372517	102372517	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:102372517C>A	ENST00000369138.1	+	12	2280	c.1790C>A	c.(1789-1791)cCt>cAt	p.P597H	GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Missense_Mutation_p.P548H|GRIK2_ENST00000421544.1_Missense_Mutation_p.P597H|GRIK2_ENST00000318991.6_Missense_Mutation_p.P597H|GRIK2_ENST00000413795.1_Missense_Mutation_p.P597H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	597					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.P597N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCTTGCAACCCTGACTCAGAC	0.398000													25	50					2.12542e-12	3.02281e-12	0.030593	1	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	rs121913240		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:25380276T>A	ENST00000311936.3	-	3	373	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61L	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			84	23					0	0	0.048971	0	0
BAI3	577	broad.mit.edu	37	6	70049223	70049223	+	Splice_Site	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:70049223A>T	ENST00000370598.1	+	26	4108		c.e26-1		BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_Splice_Site	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTCTCAACAGGGCGTCTCT	0.483000													82	110					0	0	0.048971	0	0
MB21D2	151963	broad.mit.edu	37	3	192516397	192516397	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:192516397G>T	ENST00000392452.2	-	2	1574	c.1254C>A	c.(1252-1254)gtC>gtA	p.V418V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	418								p.V416V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGGCTGCCTTGACATGCTCAA	0.617000													13	46					0.0135373	0.013974	0.093190	1	0
TMEM63C	57156	broad.mit.edu	37	14	77715175	77715175	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:77715175G>C	ENST00000298351.4	+	20	1974	c.1830G>C	c.(1828-1830)gtG>gtC	p.V610V		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	610						integral to membrane		p.V610V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCAGCGTGGTGATGGCGTACA	0.567000													29	146					0	0	0.041601	0	0
TARSL2	123283	broad.mit.edu	37	15	102197240	102197240	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:102197240C>A	ENST00000335968.3	-	18	2362		c.e18-1		TARSL2_ENST00000559492.1_Splice_Site	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2						threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTGGATACCTAGAAGAAAA	0.398000													17	17					4.7546e-09	6.22279e-09	0.028581	1	0
DDX26B	203522	broad.mit.edu	37	X	134709151	134709151	+	Splice_Site	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:134709151G>C	ENST00000370752.4	+	13	2107	c.1773_splice	c.e13+1	p.K591_splice	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	591								p.K591N(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATAAGAAGGTAGGATACC	0.368000													64	13					0	0	0.048971	0	0
PRDM9	56979	broad.mit.edu	37	5	23509160	23509160	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:23509160C>T	ENST00000296682.3	+	2	200	c.18C>T	c.(16-18)tcC>tcT	p.S6S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	6					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S6S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGAAAAGTCCCAAGAGGAGA	0.562000										HNSCC(3;0.000094)			8	18					0	0	0.047766	0	0
SPEG	10290	broad.mit.edu	37	2	220326615	220326615	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:220326615T>C	ENST00000312358.7	+	7	2584	c.2452T>C	c.(2452-2454)Tcc>Ccc	p.S818P	SPEG_ENST00000396686.1_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396689.2_5'UTR|SPEG_ENST00000396695.2_Missense_Mutation_p.S26P|SPEG_ENST00000396698.1_Missense_Mutation_p.S714P|SPEG_ENST00000396688.1_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	818					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.S818P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGTCTACATCCCCTTTCAG	0.622000													21	84					0	0	0.099896	0	0
RNPEP	6051	broad.mit.edu	37	1	201973564	201973564	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:201973564C>G	ENST00000295640.4	+	10	1777	c.1734C>G	c.(1732-1734)atC>atG	p.I578M	RNPEP_ENST00000367286.3_Missense_Mutation_p.I539M|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	578					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	p.I578M(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGGGCCAAATCGTCCTTAAGA	0.512000													33	85					0	0	0.054565	0	0
MYLK	4638	broad.mit.edu	37	3	123456294	123456294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:123456294C>A	ENST00000360772.3	-	9	1063	c.685G>T	c.(685-687)Gga>Tga	p.G229*	MYLK_ENST00000359169.1_Nonsense_Mutation_p.G229*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.G229*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.G229*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.G229*			Q15746	MYLK_HUMAN	myosin light chain kinase	229	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.G229*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGTACACTCCCACGTCATCT	0.557000													26	72					4.26978e-12	5.9535e-12	0.083992	1	0
MIIP	60672	broad.mit.edu	37	1	12089915	12089915	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:12089915A>G	ENST00000235332.4	+	7	978	c.809A>G	c.(808-810)cAg>cGg	p.Q270R	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.Q270R	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	270	Interaction with IGFBP2.							p.Q270R(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAGACCAGCAGGGCCCTGGG	0.637000													11	10					0	0	0.105934	0	0
AKAP10	11216	broad.mit.edu	37	17	19861631	19861631	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:19861631C>A	ENST00000225737.6	-	4	730	c.573G>T	c.(571-573)aaG>aaT	p.K191N	AKAP10_ENST00000395536.3_Missense_Mutation_p.K191N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	191	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	p.K191N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAGTTTCATGCTTTTTAGATG	0.418000													27	8					8.58068e-18	1.40811e-17	0.034045	1	0
MFSD12	126321	broad.mit.edu	37	19	3551130	3551130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:3551130C>A	ENST00000355415.2	-	2	530	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	MFSD12_ENST00000389395.3_Missense_Mutation_p.A121S|MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.A121S	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	121					transmembrane transport	integral to membrane		p.A121S(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCGGGCGTGGCCGCCCCACAG	0.657000													15	5					3.41278e-10	4.60798e-10	0.033300	1	0
FAM47B	170062	broad.mit.edu	37	X	34962075	34962075	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:34962075A>T	ENST00000329357.5	+	1	1163	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	376								p.K376M(1)		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						GAACTCACCAAGCCTGGTAAA	0.537000													23	4					0	0	0.076483	0	0
FOXC2	2303	broad.mit.edu	37	16	86601557	86601557	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:86601557G>C	ENST00000320354.4	+	1	701	c.616G>C	c.(616-618)Gag>Cag	p.E206Q		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	206					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	p.E206Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGCCCCCAAGGAGGCCGAGAA	0.726000									Late-onset Hereditary Lymphedema				6	17					0	0	0.038147	0	0
RALBP1	10928	broad.mit.edu	37	18	9533746	9533746	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:9533746G>T	ENST00000019317.4	+	9	1846	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	RALBP1_ENST00000383432.3_Missense_Mutation_p.E541D			Q15311	RBP1_HUMAN	ralA binding protein 1	541					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	p.E541D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						ACTCCTCCGAGAGCGAGAGCG	0.537000													70	20					2.84776e-26	5.20733e-26	0.048971	1	0
DDB1	1642	broad.mit.edu	37	11	61077401	61077401	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:61077401T>C	ENST00000301764.7	-	20	2830	c.2433A>G	c.(2431-2433)gaA>gaG	p.E811E	DDB1_ENST00000450997.2_Silent_p.E122E	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	811	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.E811E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGGGCATATTCATTCTGCA	0.498000								Nucleotide excision repair (NER)					19	85					0	0	0.062417	0	0
DDX26B	203522	broad.mit.edu	37	X	134655006	134655006	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:134655006G>T	ENST00000370752.4	+	1	423	c.89G>T	c.(88-90)gGc>gTc	p.G30V	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	30	VWFA.							p.G30V(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCCAAAGGCGCTGTGGAG	0.552000													64	10					1.17253e-29	2.18781e-29	0.048971	1	0
CTSE	1510	broad.mit.edu	37	1	206331183	206331183	+	Nonstop_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:206331183T>G	ENST00000361052.3	+	9	1322	c.1204T>G	c.(1204-1206)Taa>Gaa	p.*402E	CTSE_ENST00000360218.2_Silent_p.P349P|CTSE_ENST00000432969.2_Silent_p.P274P|CTSE_ENST00000358184.2_Nonstop_Mutation_p.*397E			P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	p.P349P(1)|p.*397E(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGCAGTCCCCTAAGGAGGGGC	0.517000													17	52					0	0	0.028581	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459079	45459079	+	RNA	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:45459079G>A	ENST00000548424.1	+	0	448																											GAGAATCTCCGCCCCGCGCAC	0.488000													3	15					0	0	0.004672	0	0
ACACB	32	broad.mit.edu	37	12	109609686	109609686	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:109609686G>T	ENST00000338432.7	+	5	1121	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	ACACB_ENST00000377848.3_Silent_p.L334L|ACACB_ENST00000377854.5_Silent_p.L334L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	334	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L334L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACGTGGAGCTGATTGTGGACA	0.527000													25	6					1.16021e-09	1.53734e-09	0.034045	1	0
MAD1L1	8379	broad.mit.edu	37	7	2108973	2108973	+	Splice_Site	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:2108973G>A	ENST00000406869.1	-	12	1631	c.1073_splice	c.e12-1	p.S358_splice	MAD1L1_ENST00000265854.7_Splice_Site_p.S358_splice|MAD1L1_ENST00000402746.1_Splice_Site_p.S266_splice|MAD1L1_ENST00000399654.2_Splice_Site_p.S358_splice			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	358					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.S358S(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCCCCCGGGCGCTGCATGGGA	0.662000													10	12					0	0	0.069234	0	0
PCK1	5105	broad.mit.edu	37	20	56139537	56139537	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:56139537G>T	ENST00000535860.1	+	5	989	c.878G>T	c.(877-879)aGg>aTg	p.R293M	PCK1_ENST00000543666.1_Splice_Site|PCK1_ENST00000319441.4_Splice_Site			P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	0					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGTCTTATAGGGGAACCTTG	0.602000													16	50					4.96729e-08	6.3328e-08	0.049695	1	0
ZBTB41	360023	broad.mit.edu	37	1	197128743	197128743	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:197128743G>A	ENST00000367405.4	-	10	2544	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R826C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTAGTATGACGCACTAGGTCA	0.473000													4	63					0	0	0.009096	0	0
PEG10	23089	broad.mit.edu	37	7	94292998	94292998	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:94292998C>A	ENST00000482108.1	+	2	609	c.130C>A	c.(130-132)Ctt>Att	p.L44I	PEG10_ENST00000488574.1_Missense_Mutation_p.L44I	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	44					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.L44I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAACACCACCCTTCGAGAGCA	0.552000													5	7					0.000602214	0.000655471	0.014758	1	0
HTR3A	3359	broad.mit.edu	37	11	113853842	113853842	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:113853842C>A	ENST00000535865.1	+	0	415				HTR3A_ENST00000504030.2_Splice_Site_p.F125_splice|HTR3A_ENST00000355556.2_Splice_Site_p.F131_splice|HTR3A_ENST00000299961.5_Splice_Site_p.F110_splice|HTR3A_ENST00000375498.2_Splice_Site_p.F131_splice|HTR3A_ENST00000506841.2_Splice_Site_p.F125_splice			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic						digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.F125L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCCCGCCAGCGTGGATGTGG	0.547000													48	42					1.39843e-22	2.49302e-22	0.048971	1	0
ADAM19	8728	broad.mit.edu	37	5	156915298	156915298	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:156915298G>T	ENST00000257527.4	-	21	2603	c.2525C>A	c.(2524-2526)cCc>cAc	p.P842H	ADAM19_ENST00000517905.1_Missense_Mutation_p.P842H|ADAM19_ENST00000394020.1_Missense_Mutation_p.P844H|ADAM19_ENST00000430702.2_Missense_Mutation_p.P575H	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	842					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.P843H(1)|p.P842H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTTGGTGCGGGGGGAATTGG	0.562000													42	108					1.89013e-27	3.4761e-27	0.048971	1	0
EIF3A	8661	broad.mit.edu	37	10	120802195	120802195	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:120802195C>G	ENST00000369144.3	-	19	2964	c.2837G>C	c.(2836-2838)aGa>aCa	p.R946T	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R912T	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	946	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.R946T(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGGGCTCTCTATCTTCATC	0.567000													77	112					0	0	0.048971	0	0
TNXB	7148	broad.mit.edu	37	6	32014146	32014146	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:32014146A>T	ENST00000375244.3	-	31	10613	c.10412T>A	c.(10411-10413)gTa>gAa	p.V3471E	TNXB_ENST00000375247.2_Missense_Mutation_p.V3469E			P22105	TENX_HUMAN	tenascin XB	3516	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.V3536E(1)|p.V3471E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCTGGGCTACCGTCCAGGA	0.662000													9	8					0	0	0.058154	0	0
GPR32	2854	broad.mit.edu	37	19	51274608	51274608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:51274608G>T	ENST00000270590.4	+	1	888	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	251						integral to plasma membrane	N-formyl peptide receptor activity	p.A251S(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGGTCCATGCCAACCGGCC	0.617000													29	12					2.81731e-10	3.81201e-10	0.045705	1	0
MMRN2	79812	broad.mit.edu	37	10	88702973	88702973	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:88702973T>C	ENST00000372027.4	-	6	1641	c.1568A>G	c.(1567-1569)gAc>gGc	p.D523G		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	523						extracellular space		p.D523G(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCGCCGCTCGTCCAGGCTCAC	0.682000													14	29					0	0	0.020292	0	0
TAL1	6886	broad.mit.edu	37	1	47685773	47685773	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:47685773C>A	ENST00000371883.3	-	4	1197	c.621G>T	c.(619-621)ggG>ggT	p.G207G	TAL1_ENST00000294339.3_Silent_p.G205G|TAL1_ENST00000371884.2_Silent_p.G205G|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	205	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.G205G(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CGGCAAAGGCCCCGTTCACAT	0.562000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								8	20					1.12685e-05	1.29477e-05	0.047766	1	0
CSMD3	114788	broad.mit.edu	37	8	113299337	113299337	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:113299337C>G	ENST00000297405.5	-	58	9531	c.9287G>C	c.(9286-9288)tGt>tCt	p.C3096S	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2927S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3026S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3056S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3096	Sushi 22.					integral to membrane|plasma membrane		p.C3056S(1)|p.C3096S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTAGCTAAACATGTTCTTTC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	104					0	0	0.039052	0	0
KMT2A	4297	broad.mit.edu	37	11	118390412	118390412	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:118390412C>G	ENST00000534358.1	+	32	11249	c.11226C>G	c.(11224-11226)caC>caG	p.H3742Q	RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.H3701Q|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.H3739Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.H3739Q(1)|p.H3742Q(1)									GTGCCAAGCACTGTCGAAATT	0.522000													70	47					0	0	0.048971	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475761	140475761	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140475761C>A	ENST00000194155.4	+	1	1535	c.1387C>A	c.(1387-1389)Cgc>Agc	p.R463S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		463	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R463S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.632000													43	79					9.40535e-28	1.7347e-27	0.048971	1	0
ACTL9	284382	broad.mit.edu	37	19	8808576	8808576	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:8808576C>T	ENST00000324436.3	-	1	596	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	159						cytoplasm|cytoskeleton		p.R159H(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TAGCTTCTCGCGGTTGGTGGC	0.667000													10	30					0	0	0.020292	0	0
CSF2RA	1438	broad.mit.edu	37	X	1419441	1419441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:1419441G>T	ENST00000381524.3	+	10	1054	c.868G>T	c.(868-870)Gca>Tca	p.A290S	CSF2RA_ENST00000432318.2_Missense_Mutation_p.A290S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A290S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A290S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000501036.2_Missense_Mutation_p.A157S|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A290S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	290						extracellular region|integral to plasma membrane	cytokine receptor activity	p.A290S(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGAGCCCAGAGCAAAACACAG	0.443000													24	53					1.10513e-12	1.57525e-12	0.069288	1	0
NCALD	83988	broad.mit.edu	37	8	102731843	102731843	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:102731843G>A	ENST00000395923.1	-	4	474	c.15C>T	c.(13-15)aaC>aaT	p.N5N	NCALD_ENST00000220931.6_Silent_p.N5N|NCALD_ENST00000521599.1_Silent_p.N5N|NCALD_ENST00000311028.3_Silent_p.N5N|NCALD_ENST00000522951.1_Silent_p.N5N|NCALD_ENST00000519508.2_Silent_p.N5N	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	5					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	p.N5N(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GCAGCTTGCTGTTCTGTTTCC	0.453000													41	105					0	0	0.039052	0	0
LUZP1	7798	broad.mit.edu	37	1	23418280	23418280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:23418280C>A	ENST00000302291.4	-	4	3276	c.2475G>T	c.(2473-2475)caG>caT	p.Q825H	LUZP1_ENST00000418342.1_Missense_Mutation_p.Q825H|LUZP1_ENST00000314174.5_Missense_Mutation_p.Q825H|LUZP1_ENST00000374623.3_Missense_Mutation_p.Q825H			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	825						nucleus		p.Q825H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCAGCCCCACCTGGATATTGC	0.537000													24	34					1.64293e-13	2.39517e-13	0.083992	1	0
DNAH11	8701	broad.mit.edu	37	7	21730382	21730382	+	Splice_Site	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:21730382G>C	ENST00000328843.6	+	36	5976		c.e36-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTATGGTAGATTTGTATTT	0.353000									Kartagener syndrome				26	73					0	0	0.108266	0	0
CCR2	729230	broad.mit.edu	37	3	46399269	46399269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:46399269T>A	ENST00000292301.4	+	2	736	c.251T>A	c.(250-252)cTg>cAg	p.L84Q	CCR2_ENST00000445132.2_Missense_Mutation_p.L84Q|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.L84Q	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	84					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.L84Q(2)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTGCTCAACCTGGCCATCTCT	0.438000													81	126					0	0	0.048971	0	0
NELFA	7469	broad.mit.edu	37	4	1989724	1989724	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:1989724G>A	ENST00000382882.3	-	4	1705	c.588C>T	c.(586-588)acC>acT	p.T196T	NELFA_ENST00000542778.1_Silent_p.T50T|NELFA_ENST00000411638.1_Silent_p.T185T	NM_005663.4	NP_005654.3			negative elongation factor complex member A									p.T185T(1)									ACTGCTGGGCGGTCTCCGTGG	0.617000													3	10					0	0	0.004672	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749788	22749788	+	RNA	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:22749788G>T	ENST00000390298.2	+	0	346																											CTGAGGACGAGGCTGAGTATT	0.562000													10	29					0.000978159	0.00105926	0.080935	1	0
C4orf21	55345	broad.mit.edu	37	4	113541332	113541332	+	Missense_Mutation	SNP	A	A	T	rs143057821		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:113541332A>T	ENST00000505019.1	-	5	302	c.177T>A	c.(175-177)gaT>gaA	p.D59E	C4orf21_ENST00000445203.2_Missense_Mutation_p.D28E|C4orf21_ENST00000309071.5_Missense_Mutation_p.D59E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	59								p.D59E(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTCTAAGTCATCTCCAGGTT	0.353000													16	51					0	0	0.038395	0	0
LELP1	149018	broad.mit.edu	37	1	153177371	153177371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:153177371C>A	ENST00000368747.1	+	2	298	c.188C>A	c.(187-189)tCg>tAg	p.S63*		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	63	Cys/Pro-rich.							p.S63*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGCCCCTCGCAGTCTCCT	0.597000													29	28					9.39395e-14	1.38848e-13	0.030593	1	0
DCDC2	51473	broad.mit.edu	37	6	24205410	24205410	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:24205410C>T	ENST00000378450.3	-	1	121	c.102G>A	c.(100-102)aaG>aaA	p.K34K	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	62	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAATCAAATGCTTATTTTTAA	0.393000													21	15					0	0	0.055883	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	42					0	0	0.021553	0	0
TG	7038	broad.mit.edu	37	8	133945830	133945830	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:133945830G>A	ENST00000220616.4	+	24	4881	c.4841G>A	c.(4840-4842)aGc>aAc	p.S1614N	TG_ENST00000542445.1_Missense_Mutation_p.S48N|TG_ENST00000377869.1_Missense_Mutation_p.S1557N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1614					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.S1614N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGCCTGCAGCTTCTTCACC	0.572000													39	109					0	0	0.111260	0	0
CPNE5	57699	broad.mit.edu	37	6	36724073	36724073	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:36724073C>A	ENST00000244751.2	-	13	1482	c.858G>T	c.(856-858)gtG>gtT	p.V286V	CPNE5_ENST00000393189.2_5'UTR|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	286								p.V287L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGGGTTTACCACCTGCAGGA	0.527000													7	20					5.18039e-06	6.03907e-06	0.038147	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	47					0	0	0.021553	0	0
CMYA5	202333	broad.mit.edu	37	5	79032837	79032837	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:79032837C>T	ENST00000446378.2	+	2	8280	c.8249C>T	c.(8248-8250)tCa>tTa	p.S2750L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2750						perinuclear region of cytoplasm		p.S2750L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGAAAAGTCAAGCAGAGAT	0.383000													4	34					0	0	0.009096	0	0
BMP7	655	broad.mit.edu	37	20	55758795	55758795	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:55758795C>T	ENST00000395863.3	-	4	1446	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R314Q	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	314					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.R314Q(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTTGGCCATCCGCAGGGCTTC	0.642000													15	46					0	0	0.028581	0	0
LAMA1	284217	broad.mit.edu	37	18	6961967	6961967	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:6961967C>A	ENST00000389658.3	-	52	7522	c.7429G>T	c.(7429-7431)Gtg>Ttg	p.V2477L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2477	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.V2477L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTTTTCTCACTCCATAGGAA	0.388000													34	192					6.29468e-14	9.36883e-14	0.074837	1	0
THSD7B	80731	broad.mit.edu	37	2	138376014	138376014	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:138376014G>C	ENST00000409968.1	+	19	3796	c.3618G>C	c.(3616-3618)agG>agC	p.R1206S	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1209S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1178S					thrombospondin, type I, domain containing 7B									p.R1178S(1)|p.R1209S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGGCGTCAGGACCCGCCTGC	0.502000													7	8					0	0	0.038147	0	0
ZPBP	11055	broad.mit.edu	37	7	50070781	50070781	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:50070781G>T	ENST00000046087.2	-	5	682	c.613C>A	c.(613-615)Ctt>Att	p.L205I	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.L204I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	205					binding of sperm to zona pellucida	extracellular region		p.L205I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCACATGAAAGGTCAAGAAGC	0.358000													12	58					7.03913e-09	9.19396e-09	0.093190	1	0
ZNF485	220992	broad.mit.edu	37	10	44112653	44112653	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:44112653G>T	ENST00000361807.3	+	5	1356	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	ZNF485_ENST00000374435.3_Missense_Mutation_p.G388W|ZNF485_ENST00000374437.2_Missense_Mutation_p.G297W	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G349W(1)|p.G388W(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TAAGAAATGTGGGAAAGCCTT	0.448000													19	25					3.32936e-07	4.05865e-07	0.038395	1	0
RBM27	54439	broad.mit.edu	37	5	145643117	145643117	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:145643117C>T	ENST00000265271.5	+	14	2420	c.2254C>T	c.(2254-2256)Ctt>Ttt	p.L752F	RBM27_ENST00000506502.1_Missense_Mutation_p.L697F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	752					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.L752F(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAACATCGTCTTGGACATGC	0.428000													49	79					0	0	0.048971	0	0
AHNAK	79026	broad.mit.edu	37	11	62293785	62293785	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:62293785T>A	ENST00000378024.4	-	5	8378	c.8104A>T	c.(8104-8106)Atc>Ttc	p.I2702F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2702					nervous system development	nucleus	protein binding	p.I2702F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCTTTGATATTCATCTCT	0.458000													39	156					0	0	0.074837	0	0
ZNF229	7772	broad.mit.edu	37	19	44934092	44934092	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:44934092C>A	ENST00000291187.4	-	6	1168	c.846G>T	c.(844-846)ttG>ttT	p.L282F	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.L288F	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L288F(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTTTCTCTTTCAAAGGTACTC	0.448000													48	6					2.64894e-19	4.53295e-19	0.048971	1	0
NBN	4683	broad.mit.edu	37	8	90949303	90949303	+	Splice_Site	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:90949303C>G	ENST00000265433.3	-	15	2339	c.2184_splice	c.e15-1	p.V729_splice	NBN_ENST00000409330.1_Splice_Site_p.V647_splice	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	729					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.V729L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGATTTTGTACCTGTCAAAAT	0.313000								Homologous recombination					35	35					0	0	0.054565	0	0
CDH7	1005	broad.mit.edu	37	18	63530152	63530152	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:63530152G>C	ENST00000536984.2	+	11	2557	c.1863G>C	c.(1861-1863)ttG>ttC	p.L621F	CDH7_ENST00000323011.3_Splice_Site_p.L621_splice|CDH7_ENST00000397968.2_Splice_Site_p.L621_splice			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	621					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L621F(2)		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)				TGACATTATTGGGTAGGTACT	0.498000													10	20					0	0	0.080935	0	0
FLG	2312	broad.mit.edu	37	1	152279988	152279988	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:152279988A>T	ENST00000368799.1	-	3	7409	c.7374T>A	c.(7372-7374)ggT>ggA	p.G2458G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2458	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2458G(1)		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)			TGGTGTCCTGACCCTCTTGGG	0.587000									Ichthyosis				149	167					0	0	0.048971	0	0
CHUK	1147	broad.mit.edu	37	10	101978830	101978830	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:101978830C>A	ENST00000370397.7	-	7	710	c.624G>T	c.(622-624)ggG>ggT	p.G208G		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	208	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.G208G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ATACCATGGTCCCAAAGCTCC	0.418000													36	62					6.97489e-18	1.15347e-17	0.074837	1	0
C1orf173	127254	broad.mit.edu	37	1	75055605	75055605	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:75055605G>A	ENST00000326665.5	-	12	2104	c.1886C>T	c.(1885-1887)cCa>cTa	p.P629L	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.P432L	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	629	Glu-rich.							p.P629L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGACTTTCTTGGCTTATCATT	0.448000													12	141					0	0	0.024245	0	0
GTF3C1	2975	broad.mit.edu	37	16	27499558	27499558	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:27499558T>A	ENST00000356183.4	-	23	3705	c.3690A>T	c.(3688-3690)agA>agT	p.R1230S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1230S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1230	Arg/Lys-rich (basic).					transcription factor TFIIIC complex	DNA binding|protein binding	p.R1230S(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTTCTTCTTTCTCTTGATCT	0.537000													35	89					0	0	0.074837	0	0
LRP12	29967	broad.mit.edu	37	8	105503136	105503136	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:105503136C>A	ENST00000276654.5	-	7	2453	c.2345G>T	c.(2344-2346)gGa>gTa	p.G782V	LRP12_ENST00000424843.2_Missense_Mutation_p.G763V|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	782					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.G782V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTGAAGATCCATCAGAAAT	0.408000													31	108					2.08457e-15	3.26192e-15	0.045705	1	0
FAT1	2195	broad.mit.edu	37	4	187509957	187509957	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:187509957T>G	ENST00000441802.2	-	27	13765	c.13556A>C	c.(13555-13557)tAc>tCc	p.Y4519S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4519					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Y4522S(1)|p.Y4519S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTGGCGGGTAAGGGGCATG	0.527000										HNSCC(5;0.00058)			9	30					0	0	0.047766	0	0
PCNX	22990	broad.mit.edu	37	14	71500153	71500153	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:71500153G>T	ENST00000304743.2	+	17	4012	c.3566G>T	c.(3565-3567)tGg>tTg	p.W1189L	PCNX_ENST00000238570.5_Missense_Mutation_p.W1189L|PCNX_ENST00000439984.3_Missense_Mutation_p.W1078L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1189						integral to membrane		p.W1189L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGGATTCTTGGGATGGCCAG	0.353000													85	12					3.66348e-25	6.64201e-25	0.048971	1	0
ALMS1	7840	broad.mit.edu	37	2	73827957	73827957	+	Missense_Mutation	SNP	G	G	T	rs61741524		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:73827957G>T	ENST00000264448.6	+	18	11929	c.11818G>T	c.(11818-11820)Ggt>Tgt	p.G3940C	ALMS1_ENST00000409009.1_Missense_Mutation_p.G3898C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3940					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.G3940C(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTCTTTACCGGTTATCCTGA	0.388000													7	20					0.000274275	0.000302128	0.047766	1	0
DMRTB1	63948	broad.mit.edu	37	1	53930518	53930518	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:53930518C>A	ENST00000371445.3	+	3	1014	c.959C>A	c.(958-960)aCt>aAt	p.T320N		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	320					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.T320N(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AAGGAGAACACTGGTGAGTGA	0.552000													30	34					8.73648e-17	1.39784e-16	0.069456	1	0
RNF213	57674	broad.mit.edu	37	17	78350335	78350335	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:78350335A>C	ENST00000582970.1	+	52	13563	c.13420A>C	c.(13420-13422)Acc>Ccc	p.T4474P	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T2547P|RNF213_ENST00000508628.2_Missense_Mutation_p.T4523P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.T2547P(1)|p.T4523P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCCCAGCCACCATGGCGGT	0.552000													3	51					0	0	0.009096	0	0
ZNF98	148198	broad.mit.edu	37	19	22575523	22575523	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:22575523G>T	ENST00000357774.5	-	4	635	c.514C>A	c.(514-516)Cat>Aat	p.H172N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H172N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTATCTTATGTCTGTTTGAA	0.299000													8	3					1.12685e-05	1.29477e-05	0.047766	1	0
AKAP3	10566	broad.mit.edu	37	12	4736526	4736526	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:4736526C>A	ENST00000545990.2	-	5	2066	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	AKAP3_ENST00000228850.1_Missense_Mutation_p.E514D	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	514					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.E514D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ACATAAAATTCTCAGGTTTCT	0.502000													16	32					2.32078e-09	3.06881e-09	0.024245	1	0
CENPH	64946	broad.mit.edu	37	5	68491617	68491617	+	Splice_Site	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:68491617A>T	ENST00000283006.2	+	4	400	c.314_splice	c.e4+1	p.R105_splice	CENPH_ENST00000515001.1_Splice_Site_p.S105_splice	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	105					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	p.R105W(1)		kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TGCATTAGACAGGTAATTATT	0.328000													14	26					0	0	0.020292	0	0
OR4A15	81328	broad.mit.edu	37	11	55135976	55135976	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:55135976T>A	ENST00000314706.3	+	1	617	c.617T>A	c.(616-618)cTg>cAg	p.L206Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L206Q(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GACAACTTCCTGTGTGATTTG	0.438000													22	103					0	0	0.069288	0	0
TTYH3	80727	broad.mit.edu	37	7	2696151	2696151	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:2696151C>T	ENST00000258796.7	+	11	1438	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	TTYH3_ENST00000407643.1_Silent_p.H379H|TTYH3_ENST00000403167.1_Silent_p.H240H	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	411						chloride channel complex|plasma membrane	chloride channel activity	p.H411H(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCGTCCCGCACACCTGGCAGC	0.632000													10	47					0	0	0.069234	0	0
PSKH2	85481	broad.mit.edu	37	8	87081723	87081723	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:87081723C>A	ENST00000276616.2	-	1	203	c.129G>T	c.(127-129)gcG>gcT	p.A43A	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	43							ATP binding|protein serine/threonine kinase activity	p.A43A(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTATCCTCTGCGCCGCCTGGG	0.697000													15	9					1.99824e-07	2.46411e-07	0.033300	1	0
MRGPRF	116535	broad.mit.edu	37	11	68773568	68773568	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:68773568G>C	ENST00000309099.6	-	3	592	c.210C>G	c.(208-210)ggC>ggG	p.G70G	MRGPRF_ENST00000441623.1_Silent_p.G70G	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	70						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G70G(1)		endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGATGGAGAAGCCGAAAAACC	0.592000													7	24					0	0	0.029380	0	0
MS4A2	2206	broad.mit.edu	37	11	59857214	59857214	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:59857214G>A	ENST00000278888.3	+	2	208	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	36					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	p.G36S(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGTATCTTCAGGCAGACTATT	0.463000													50	33					0	0	0.048971	0	0
MUC16	94025	broad.mit.edu	37	19	9049248	9049248	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:9049248A>T	ENST00000397910.4	-	5	32586	c.32383T>A	c.(32383-32385)Tca>Aca	p.S10795T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10797	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S10795T(1)|p.S6428T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACCATTGAGGTCACCAAC	0.493000													76	25					0	0	0.048971	0	0
AKAP13	11214	broad.mit.edu	37	15	86236676	86236676	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:86236676T>A	ENST00000394518.2	+	17	5553	c.5458T>A	c.(5458-5460)Tgt>Agt	p.C1820S	AKAP13_ENST00000361243.2_Missense_Mutation_p.C1824S|AKAP13_ENST00000394510.2_Missense_Mutation_p.C65S|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1820					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.C1824S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCCTATACTTGTGCAAGTAA	0.463000													27	56					0	0	0.041601	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557832	9557832	+	RNA	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:9557832C>A	ENST00000408348.1	-	0	105					NR_031688.1																						AGAAAAGATACtaggctggta	0.383000													11	55					9.70103e-10	1.2881e-09	0.069234	1	0
MAPKAPK3	7867	broad.mit.edu	37	3	50679165	50679165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:50679165G>T	ENST00000446044.1	+	6	983	c.387G>T	c.(385-387)agG>agT	p.R129S	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R129S	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	129	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.R129S(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGTTCAGCAGGATTCAGGAGC	0.532000													16	24					4.14922e-12	5.81072e-12	0.028581	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158556	26158556	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:26158556C>A	ENST00000289316.2	+	1	183	c.159C>A	c.(157-159)acC>acA	p.T53T	HIST1H2BD_ENST00000377777.4_Silent_p.T53T	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	53					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T53T(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ATCCCGACACCGGCATCTCTT	0.557000													91	75					6.04572e-29	1.12153e-28	0.048971	1	0
PLCG2	5336	broad.mit.edu	37	16	81925085	81925085	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:81925085G>A	ENST00000359376.3	+	11	1090	c.876G>A	c.(874-876)acG>acA	p.T292T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	292					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T292T(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTTCCTCACGTACCTGTTTT	0.512000													6	22					0	0	0.038147	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478730	14478730	+	RNA	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:14478730G>C	ENST00000581457.1	-	0	1178					NR_024076.1																						CTGTGAGTCAGACAATTTTTG	0.358000													7	12					0	0	0.038147	0	0
PRSS36	146547	broad.mit.edu	37	16	31157191	31157191	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:31157191G>A	ENST00000268281.4	-	6	697	c.639C>T	c.(637-639)ccC>ccT	p.P213P	PRSS36_ENST00000569305.1_Silent_p.P213P|PRSS36_ENST00000418068.2_Silent_p.P213P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	213	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	p.P213P(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGAAGGGACCGGGCTGGCTGT	0.627000													26	26					0	0	0.099896	0	0
DDC	1644	broad.mit.edu	37	7	50605628	50605628	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:50605628A>C	ENST00000444124.2	-	4	565	c.365T>G	c.(364-366)cTc>cGc	p.L122R	DDC_ENST00000380984.4_Missense_Mutation_p.L122R|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Missense_Mutation_p.L122R|DDC_ENST00000357936.5_Missense_Mutation_p.L122R|DDC_ENST00000426377.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	122	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.L122R(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CATCTTCCCGAGCCAGTCCAT	0.552000													17	16					0	0	0.033300	0	0
FER	2241	broad.mit.edu	37	5	108203468	108203468	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:108203468G>T	ENST00000281092.4	+	6	866	c.481_splice	c.e6-1	p.G161_splice	FER_ENST00000536402.1_Splice_Site_p.G161_splice|FER_ENST00000438717.2_5'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	161	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G161V(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTTTTTTCAGGGAAGGAAACT	0.338000													11	16					0.000978159	0.00105926	0.080935	1	0
RYR3	6263	broad.mit.edu	37	15	33991938	33991938	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:33991938C>T	ENST00000389232.4	+	41	6353	c.6283C>T	c.(6283-6285)Cgt>Tgt	p.R2095C	RYR3_ENST00000415757.3_Missense_Mutation_p.R2095C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2095	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2095C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGCTGCTGCCGTTTCCTTTG	0.443000													15	7					0	0	0.020292	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332676	100332676	+	RNA	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:100332676G>A	ENST00000341853.1	-	0	1515					NR_003260.1													p.G98E(1)									GGACATGGAGGAGATGAAGGT	0.607000													10	40					0	0	0.080935	0	0
SLC38A8	146167	broad.mit.edu	37	16	84067060	84067060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:84067060G>T	ENST00000299709.3	-	3	402	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	135					amino acid transport|sodium ion transport	integral to membrane		p.L135M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGCCAGACAGGAGGGAGTCA	0.682000													24	26					6.12954e-19	1.0378e-18	0.099896	1	0
MURC	347273	broad.mit.edu	37	9	103348395	103348395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:103348395G>T	ENST00000307584.5	+	2	822	c.757G>T	c.(757-759)Gag>Tag	p.E253*		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	253					cell differentiation|muscle organ development|transcription, DNA-dependent			p.E253*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				ACAGTCAGGGGAGAGGTTTAA	0.502000													17	72					2.35188e-11	3.237e-11	0.038395	1	0
RAI14	26064	broad.mit.edu	37	5	34803879	34803879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:34803879C>T	ENST00000265109.3	+	5	606	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	RAI14_ENST00000397449.1_Nonsense_Mutation_p.Q100*|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Nonsense_Mutation_p.Q110*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.Q107*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.Q99*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.Q107*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.Q107*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	107						cell cortex|cytoskeleton	protein binding	p.Q107*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAGCTGCTTCAGGTAAGCTG	0.363000													8	9					0	0	0.038147	0	0
RYR2	6262	broad.mit.edu	37	1	237870278	237870278	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237870278G>A	ENST00000366574.2	+	68	9927	c.9610G>A	c.(9610-9612)Gtt>Att	p.V3204I	RYR2_ENST00000360064.6_Missense_Mutation_p.V3202I|RYR2_ENST00000542537.1_Missense_Mutation_p.V3188I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3204					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V3202I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGGAAGATGTTTGTCCAAA	0.418000													35	94					0	0	0.080422	0	0
BRSK2	9024	broad.mit.edu	37	11	1464734	1464734	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:1464734G>T	ENST00000308219.9	+	8	1035	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	BRSK2_ENST00000531197.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000528841.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000382179.1_Missense_Mutation_p.D263Y|BRSK2_ENST00000526678.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000528710.1_Missense_Mutation_p.D157Y|BRSK2_ENST00000308230.5_Missense_Mutation_p.D217Y	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	217	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D217Y(2)		endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCTGCCCTTCGACGATGACAA	0.677000													8	3					5.18039e-06	6.03907e-06	0.038147	1	0
CPSF1	29894	broad.mit.edu	37	8	145634558	145634558	+	Splice_Site	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:145634558T>A	ENST00000349769.3	-	2	81		c.e2-2			NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAACCCGGGCTGCGCAAGGCC	0.711000													60	42					0	0	0.048971	0	0
ZNF451	26036	broad.mit.edu	37	6	57012581	57012581	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:57012581A>G	ENST00000370706.4	+	10	1942	c.1698A>G	c.(1696-1698)gtA>gtG	p.V566V	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Silent_p.V566V|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Silent_p.V566V|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.V566V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGATGAGGTAGAAGGTGAAA	0.378000													55	44					0	0	0.048971	0	0
PADI1	29943	broad.mit.edu	37	1	17548815	17548815	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:17548815G>T	ENST00000375471.4	+	2	215	c.123G>T	c.(121-123)agG>agT	p.R41S		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	41					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R41I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGCTTCAGGGTCTCTGGAA	0.582000													11	40					3.86212e-05	4.35936e-05	0.069234	1	0
THAP5	168451	broad.mit.edu	37	7	108205269	108205269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:108205269T>A	ENST00000415914.3	-	3	707	c.554A>T	c.(553-555)aAc>aTc	p.N185I	THAP5_ENST00000313516.5_Missense_Mutation_p.N143I|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	185					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	p.N23I(1)|p.N185I(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TGTATCTTGGTTAACTGATGT	0.333000													11	28					0	0	0.093190	0	0
ZNF497	162968	broad.mit.edu	37	19	58867550	58867550	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:58867550G>A	ENST00000311044.3	-	3	1640	c.1452C>T	c.(1450-1452)aaC>aaT	p.N484N	ZNF497_ENST00000425453.3_Silent_p.N484N|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N484N(1)		central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTCGTTGAGGTTGCAACGGT	0.701000													10	6					0	0	0.080935	0	0
GALNT13	114805	broad.mit.edu	37	2	155252566	155252566	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:155252566G>T	ENST00000392825.3	+	10	1787	c.1220G>T	c.(1219-1221)tGt>tTt	p.C407F	GALNT13_ENST00000409237.1_Missense_Mutation_p.C407F|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	407						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.C407F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATCTGAAGTGTAAGCCCTTT	0.373000													13	29					1.5842e-08	2.04826e-08	0.105934	1	0
LEPR	3953	broad.mit.edu	37	1	66102442	66102442	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:66102442G>T	ENST00000349533.6	+	20	3427	c.3242G>T	c.(3241-3243)gGg>gTg	p.G1081V	LEPR_ENST00000406510.3_Missense_Mutation_p.G148V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1081					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.G1081V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATTATTTAGGGGTCACCTCA	0.413000													171	33					6.77334e-58	1.35045e-57	0.048971	1	0
CDH23	64072	broad.mit.edu	37	10	73572631	73572631	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:73572631G>A	ENST00000224721.6	+	67	9637	c.9632G>A	c.(9631-9633)cGt>cAt	p.R3211H	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R966H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3206					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R3211H(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGATCATTCGTGAGGGGCCA	0.597000													14	9					0	0	0.028581	0	0
MCFD2	90411	broad.mit.edu	37	2	47136246	47136246	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:47136246G>A	ENST00000409105.1	-	3	244	c.65C>T	c.(64-66)cCa>cTa	p.P22L	MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.P22L|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000409218.1_Missense_Mutation_p.P22L|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.P22L|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000409207.1_Missense_Mutation_p.P22L	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	22					post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding	p.P22L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	CCTGGCGCCTGGGGCACAAAA	0.582000													11	30					0	0	0.093190	0	0
NEO1	4756	broad.mit.edu	37	15	73409019	73409019	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:73409019G>A	ENST00000339362.5	+	3	716	c.269G>A	c.(268-270)gGa>gAa	p.G90E	NEO1_ENST00000560262.1_Missense_Mutation_p.G90E|NEO1_ENST00000261908.6_Missense_Mutation_p.G90E|NEO1_ENST00000558964.1_Missense_Mutation_p.G90E			Q92859	NEO1_HUMAN	neogenin 1	90	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.G90E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAAAAGATGGAACTTTTTTA	0.393000													32	96					0	0	0.064281	0	0
KLHL17	339451	broad.mit.edu	37	1	898278	898278	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:898278G>A	ENST00000338591.3	+	6	1130	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	341	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	p.G341G(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGGCCGGGCCTGTGCTTT	0.677000													6	14					0	0	0.021553	0	0
AEBP1	165	broad.mit.edu	37	7	44148746	44148746	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:44148746C>T	ENST00000223357.3	+	8	1364	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	353					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T353T(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGGAGGAGACCGACAAGTGGG	0.612000													8	14					0	0	0.069234	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232579372	232579372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:232579372C>T	ENST00000366630.1	-	11	3771	c.3413G>A	c.(3412-3414)tGg>tAg	p.W1138*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.W1138*|SIPA1L2_ENST00000308942.4_Nonsense_Mutation_p.W212*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1138					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.W1138*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGTGGTCTCCAGGGTCCGCT	0.498000													16	24					0	0	0.033300	0	0
TAP1	6890	broad.mit.edu	37	6	32818283	32818283	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:32818283C>A	ENST00000354258.4	-	5	1403	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.V153V	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	414	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.V414V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CCCGCACCTGCACTTCCAGCA	0.527000													7	25					2.0095e-06	2.38605e-06	0.029380	1	0
ZIM2	23619	broad.mit.edu	37	19	57286128	57286128	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:57286128G>A	ENST00000391708.3	-	12	2054	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Silent_p.G504G|ZIM2_ENST00000599935.1_Silent_p.G504G|ZIM2_ENST00000221722.5_Silent_p.G504G|ZIM2_ENST00000593711.1_Silent_p.G504G|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.G504G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ATGAGGGTCGGCCGAAACATT	0.438000													37	13					0	0	0.069456	0	0
RBM14	10432	broad.mit.edu	37	11	66392833	66392833	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:66392833G>T	ENST00000310137.4	+	2	1625	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	496	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	p.G496C(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCGGCCACTGGCTCCTATGG	0.627000													87	42					5.86298e-51	1.1617e-50	0.048971	1	0
LYPD6B	130576	broad.mit.edu	37	2	150069541	150069541	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:150069541A>T	ENST00000409642.3	+	6	765	c.364A>T	c.(364-366)Agc>Tgc	p.S122C	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409029.1_Missense_Mutation_p.S98C|LYPD6B_ENST00000409876.1_Missense_Mutation_p.S98C|LYPD6B_ENST00000280115.7_Missense_Mutation_p.S122C	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	98	UPAR/Ly6.					anchored to membrane|plasma membrane		p.S122C(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCACTTCACCAGCCACGGAAG	0.408000													19	21					0	0	0.049695	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323135	79323135	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:79323135G>C	ENST00000428286.1	-	8	4178	c.2978C>G	c.(2977-2979)gCc>gGc	p.A993G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1352G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1352					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.A1352G(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATCCCTGAGGCATTCTCCAC	0.502000													25	24					0	0	0.099896	0	0
PREPL	9581	broad.mit.edu	37	2	44553863	44553863	+	Silent	SNP	C	C	A	rs140525819		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:44553863C>A	ENST00000541738.1	-	10	1853	c.1467G>T	c.(1465-1467)gcG>gcT	p.A489A	PREPL_ENST00000378511.3_Silent_p.A516A|PREPL_ENST00000378520.3_Silent_p.A512A|PREPL_ENST00000410081.1_Silent_p.A578A|PREPL_ENST00000409272.1_Silent_p.A578A|PREPL_ENST00000260648.6_Silent_p.A578A|PREPL_ENST00000409936.1_Silent_p.A578A|PREPL_ENST00000409411.1_Silent_p.A489A|PREPL_ENST00000409957.1_Silent_p.A489A	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	578					proteolysis	cytosol	serine-type endopeptidase activity	p.A578A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCAAAGTCACCGCTCTCACCA	0.483000													18	54					5.26018e-13	7.54824e-13	0.062417	1	0
LGI1	9211	broad.mit.edu	37	10	95557473	95557473	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:95557473C>T	ENST00000371418.4	+	8	1847	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.S481S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	529					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.S529S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CACATGTGTCCATTAATAAGC	0.353000													35	65					0	0	0.054565	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54596898	54596898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:54596898G>T	ENST00000474759.1	+	6	664	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D206Y|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D206Y|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D112Y	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	206						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.D206Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTTTGACCGTGACCCATCTCT	0.408000													9	17					1.12685e-05	1.29477e-05	0.047766	1	0
RYR2	6262	broad.mit.edu	37	1	237670064	237670064	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237670064C>A	ENST00000366574.2	+	23	2985	c.2668C>A	c.(2668-2670)Cat>Aat	p.H890N	RYR2_ENST00000360064.6_Missense_Mutation_p.H888N|RYR2_ENST00000542537.1_Missense_Mutation_p.H874N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	890	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	p.H888N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGAATATCCATGAACTCTG	0.333000													13	10					3.45872e-05	3.92479e-05	0.028581	1	0
ATM	472	broad.mit.edu	37	11	108137952	108137952	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:108137952G>T	ENST00000278616.4	+	17	2906	c.2521G>T	c.(2521-2523)Gat>Tat	p.D841Y	ATM_ENST00000452508.2_Missense_Mutation_p.D841Y	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	841					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.D841Y(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATGGAAGATGATACTAATGG	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			22	19					8.10497e-08	1.02311e-07	0.055883	1	0
GRIK2	2898	broad.mit.edu	37	6	102372516	102372516	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:102372516C>A	ENST00000369138.1	+	12	2279	c.1789C>A	c.(1789-1791)Cct>Act	p.P597T	GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Missense_Mutation_p.P548T|GRIK2_ENST00000421544.1_Missense_Mutation_p.P597T|GRIK2_ENST00000318991.6_Missense_Mutation_p.P597T|GRIK2_ENST00000413795.1_Missense_Mutation_p.P597T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	597					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.P597N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCCTTGCAACCCTGACTCAGA	0.398000													26	50					3.73148e-12	5.26023e-12	0.034045	1	0
CUX2	23316	broad.mit.edu	37	12	111785649	111785649	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:111785649C>A	ENST00000261726.6	+	22	4135	c.3981C>A	c.(3979-3981)ccC>ccA	p.P1327P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1327	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P1327P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCAAGGTCCCCCCAAAGAGG	0.622000													5	58					1.23904e-05	1.41858e-05	0.014758	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572519	140572519	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140572519G>C	ENST00000239446.4	+	1	578	c.394G>C	c.(394-396)Gta>Cta	p.V132L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		132	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V132L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACGCGCCAGTATTTCAGGA	0.403000													39	63					0	0	0.080422	0	0
EFCAB6	64800	broad.mit.edu	37	22	44107437	44107437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:44107437C>A	ENST00000262726.7	-	10	1202	c.949G>T	c.(949-951)Gtg>Ttg	p.V317L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V165L|EFCAB6_ENST00000358439.4_Missense_Mutation_p.V211L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	317	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.V317L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTAAAAGACACGTAGCCACCT	0.373000													20	12					2.39187e-15	3.73032e-15	0.049695	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140752016	140752016	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140752016G>A	ENST00000576222.1	+	1	2186	c.2055G>A	c.(2053-2055)caG>caA	p.Q685Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCCTCAGGCGGAGCTAC	0.567000													29	37					0	0	0.037714	0	0
EPHX2	2053	broad.mit.edu	37	8	27364421	27364421	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:27364421G>T	ENST00000521400.1	+	5	1000	c.570G>T	c.(568-570)ctG>ctT	p.L190L	EPHX2_ENST00000380476.3_Silent_p.L137L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Silent_p.L190L|EPHX2_ENST00000521780.1_Silent_p.L124L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	190	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.L190L(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGGCTAATCTGAAGCCAGCCC	0.498000													19	29					9.7654e-05	0.000109073	0.043863	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86537030	86537030	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:86537030C>A	ENST00000450689.2	-	18	2699	c.2514G>T	c.(2512-2514)agG>agT	p.R838S	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.R598S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.R671S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R767S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	838						integral to membrane		p.R598S(1)|p.R838S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TAGGATTACACCTCATTTTCA	0.358000													31	36					2.61193e-14	3.92403e-14	0.041601	1	0
SLC6A17	388662	broad.mit.edu	37	1	110717483	110717483	+	Silent	SNP	G	G	C	rs142547110	by1000genomes	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:110717483G>C	ENST00000331565.4	+	5	1139	c.654G>C	c.(652-654)tcG>tcC	p.S218S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	218					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.E219*(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTCCATCTCGGAGAGTGGGG	0.577000													9	18					0	0	0.058154	0	0
GOLGA5	9950	broad.mit.edu	37	14	93275695	93275695	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:93275695A>C	ENST00000163416.2	+	4	1079	c.823A>C	c.(823-825)Aag>Cag	p.K275Q	GOLGA5_ENST00000355976.2_Missense_Mutation_p.K275Q	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	275					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	p.K275Q(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGACCATTCAAAGAGTGATCG	0.398000			T	RET	papillary thyroid								48	8					0	0	0.048971	0	0
GTDC1	79712	broad.mit.edu	37	2	144966344	144966344	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:144966344C>A	ENST00000409214.1	-	4	283	c.5G>T	c.(4-6)aGt>aTt	p.S2I	GTDC1_ENST00000392867.3_Missense_Mutation_p.S2I|GTDC1_ENST00000392869.1_Missense_Mutation_p.S2I|GTDC1_ENST00000409298.1_Missense_Mutation_p.S2I|GTDC1_ENST00000241391.5_Missense_Mutation_p.S2I|GTDC1_ENST00000542155.1_Missense_Mutation_p.S2I|GTDC1_ENST00000344850.4_Missense_Mutation_p.S2I|GTDC1_ENST00000463875.2_Intron	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	2					biosynthetic process		transferase activity, transferring glycosyl groups	p.S2I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GATGAGGATACTCATTGGCCC	0.343000													12	33					0.000151284	0.000168386	0.105934	1	0
F7	2155	broad.mit.edu	37	13	113773184	113773184	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:113773184C>A	ENST00000375581.3	+	9	1298	c.1263C>A	c.(1261-1263)atC>atA	p.I421I	F7_ENST00000346342.3_Silent_p.I399I|F7_ENST00000541084.1_Silent_p.I352I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	421	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	p.I421I(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGACGGGCATCGTCAGCTGGG	0.642000													4	11					0.00909568	0.00940426	0.009096	1	0
PRMT6	55170	broad.mit.edu	37	1	107600389	107600389	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:107600389G>C	ENST00000361318.5	+	1	1123	c.875G>C	c.(874-876)cGt>cCt	p.R292P	PRMT6_ENST00000370078.1_Missense_Mutation_p.R351P	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	351					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R292P(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GACAACCCCCGTCGCCTGCGC	0.602000													6	12					0	0	0.029380	0	0
BIRC6	57448	broad.mit.edu	37	2	32836633	32836633	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:32836633A>G	ENST00000421745.2	+	73	14512	c.14378A>G	c.(14377-14379)cAt>cGt	p.H4793R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4793					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.H4765R(1)|p.H4793R(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTCTCACCATGCAGCAGCT	0.458000													8	17					0	0	0.058154	0	0
KAT2A	2648	broad.mit.edu	37	17	40271406	40271406	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:40271406G>A	ENST00000225916.5	-	6	983	c.930C>T	c.(928-930)cgC>cgT	p.R310R		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	310					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.R310R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGGTTTCGTAGCGGGGGAGGC	0.587000													56	22					0	0	0.048971	0	0
LRP1B	53353	broad.mit.edu	37	2	140995809	140995809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:140995809C>A	ENST00000389484.3	-	89	14443	c.13472G>T	c.(13471-13473)gGc>gTc	p.G4491V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4491					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4491V(1)		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)		AGATGGATTGCCAATTTCTAC	0.313000										TSP Lung(27;0.18)			23	21					3.62473e-10	4.88385e-10	0.062417	1	0
PKD1L1	168507	broad.mit.edu	37	7	47842854	47842854	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:47842854C>T	ENST00000289672.2	-	53	7966	c.7916G>A	c.(7915-7917)tGc>tAc	p.C2639Y	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2639					cell-cell adhesion	integral to membrane		p.C2639Y(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGGAGGAGCAGGATGCCAT	0.483000													9	39					0	0	0.058154	0	0
PRDM12	59335	broad.mit.edu	37	9	133542010	133542010	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:133542010C>G	ENST00000253008.2	+	2	299	c.239C>G	c.(238-240)tCc>tGc	p.S80C		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S80C(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGAAGCTGTCCAGCCTGGTG	0.687000													27	24					0	0	0.108266	0	0
MTMR6	9107	broad.mit.edu	37	13	25840081	25840081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:25840081C>A	ENST00000381801.5	-	5	1228	c.467G>T	c.(466-468)tGt>tTt	p.C156F	MTMR6_ENST00000540661.1_Missense_Mutation_p.C156F	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	156	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.C156F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTAAGTTTCACAAATCTGTAA	0.353000													16	60					3.52763e-06	4.16547e-06	0.033300	1	0
NFATC3	4775	broad.mit.edu	37	16	68156481	68156481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:68156481G>T	ENST00000349223.5	+	2	919	c.695G>T	c.(694-696)gGa>gTa	p.G232V	NFATC3_ENST00000575270.1_Missense_Mutation_p.G232V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.G232V|NFATC3_ENST00000329524.4_Missense_Mutation_p.G232V	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	232	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.G232V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TATGGACTTGGACACTCATTA	0.557000													12	45					0.00136819	0.00146674	0.093190	1	0
KIR2DL3	3804	broad.mit.edu	37	19	55263202	55263202	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:55263202A>T	ENST00000342376.3	+	6	848	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3									p.K273*(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGCAACAAAAAAAGTAAGTC	0.532000													28	11					0	0	0.034045	0	0
C1orf173	127254	broad.mit.edu	37	1	75055645	75055645	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:75055645T>A	ENST00000326665.5	-	12	2064	c.1846A>T	c.(1846-1848)Aga>Tga	p.R616*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.R419*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	616	Glu-rich.							p.R616*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGACCTTCTGGCACTTTCA	0.443000													102	29					0	0	0.048971	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244992	6244992	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:6244992G>A	ENST00000265978.4	-	3	983	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R209C|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R209C	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	209					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.R209C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGAAGACGGGGAGCGGCT	0.582000													78	40					0	0	0.048971	0	0
DGKI	9162	broad.mit.edu	37	7	137263069	137263069	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:137263069C>A	ENST00000453654.1	-	16	1284	c.745G>T	c.(745-747)Gca>Tca	p.A249S	DGKI_ENST00000288490.5_Missense_Mutation_p.A549S|DGKI_ENST00000446122.1_Missense_Mutation_p.A549S|DGKI_ENST00000424189.2_Missense_Mutation_p.A549S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	549					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.A549S(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTGGATTTGCTTCTGTGAAA	0.378000													6	37					0.00198382	0.00210554	0.029380	1	0
GLCCI1	113263	broad.mit.edu	37	7	8062174	8062174	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:8062174G>T	ENST00000223145.5	+	3	1228	c.671G>T	c.(670-672)tGg>tTg	p.W224L	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	224								p.W224M(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TCTGCGTCATGGGGGAGTGCT	0.363000													16	10					7.45023e-12	1.0343e-11	0.055883	1	0
SLC7A13	157724	broad.mit.edu	37	8	87242305	87242305	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:87242305C>G	ENST00000297524.3	-	1	305	c.202G>C	c.(202-204)Gca>Cca	p.A68P	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A68P	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	68						integral to membrane	amino acid transmembrane transporter activity	p.A68L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTTATCTCTGCAGAGCAAAGA	0.478000													41	32					0	0	0.098360	0	0
KCNC1	3746	broad.mit.edu	37	11	17794029	17794029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:17794029C>A	ENST00000379472.3	+	2	1418	c.1388C>A	c.(1387-1389)cCa>cAa	p.P463Q	KCNC1_ENST00000265969.6_Missense_Mutation_p.P463Q	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	463						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P463Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATTCCGCGGCCACCGCAGCTG	0.468000													14	56					6.72482e-11	9.17673e-11	0.024245	1	0
YTHDF1	54915	broad.mit.edu	37	20	61834033	61834033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:61834033C>A	ENST00000370339.3	-	4	1600	c.1259G>T	c.(1258-1260)cGc>cTc	p.R420L	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R370L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	420	YTH.							p.R420L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GCTGTCCAGGCGCTTGTTGCC	0.567000													33	40					9.17885e-22	1.62728e-21	0.059317	1	0
TMCO4	255104	broad.mit.edu	37	1	20009803	20009803	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:20009803C>A	ENST00000294543.6	-	16	1876	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q505H|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q545H	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	545						integral to membrane		p.Q545L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGCTGCTGCCTGGCGAGGCT	0.662000													27	26					5.77227e-19	9.79908e-19	0.037714	1	0
C1orf105	92346	broad.mit.edu	37	1	172425555	172425555	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:172425555G>T	ENST00000367727.4	+	4	397	c.198_splice	c.e4-1	p.A67_splice	C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Splice_Site_p.A57_splice	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	67								p.?(1)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCCCCTCAGGCCAGGAGGAA	0.512000													18	71					5.45024e-15	8.42549e-15	0.083992	1	0
ATIC	471	broad.mit.edu	37	2	216213880	216213880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:216213880G>T	ENST00000435675.1	+	14	1955	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.E464*|ATIC_ENST00000236959.9_Nonsense_Mutation_p.E523*			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	523					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.E523*(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CACTGAGGCAGAGAAGAAGGA	0.448000			T	ALK	ALCL								25	30					1.42536e-11	1.97452e-11	0.099896	1	0
ANKH	56172	broad.mit.edu	37	5	14712990	14712990	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:14712990C>T	ENST00000284268.6	-	11	1688	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	ANKH_ENST00000535119.1_Missense_Mutation_p.R255Q	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	453					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.R453Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CACCTGCTTCCGGTAGACATA	0.657000													3	6					0	0	0.009096	0	0
NLRP3	114548	broad.mit.edu	37	1	247588117	247588117	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:247588117C>A	ENST00000366497.2	+	4	2152	c.1372C>A	c.(1372-1374)Cag>Aag	p.Q458K	NLRP3_ENST00000366496.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q458K|NLRP3_ENST00000336119.3_Missense_Mutation_p.Q458K|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q458K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	458	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.Q458K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGAGGGAGCCAGGAGCACGG	0.597000													6	22					0.00198382	0.00210554	0.029380	1	0
EBF3	253738	broad.mit.edu	37	10	131666055	131666055	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:131666055C>T	ENST00000368648.3	-	9	948	c.876G>A	c.(874-876)gtG>gtA	p.V292V	EBF3_ENST00000355311.5_Silent_p.V301V	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	301	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.V292V(1)|p.V301V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTCGCTCCACACCAACATAG	0.532000													16	18					0	0	0.024245	0	0
IQGAP3	128239	broad.mit.edu	37	1	156532439	156532439	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:156532439C>A	ENST00000361170.2	-	9	827	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	273					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.D273Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCATAGATGTCCTGGCTTTCT	0.488000													30	42					4.65686e-17	7.50729e-17	0.064281	1	0
SLC17A1	6568	broad.mit.edu	37	6	25813179	25813179	+	Silent	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:25813179A>C	ENST00000244527.4	-	8	892	c.777T>G	c.(775-777)ctT>ctG	p.L259L	SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Silent_p.L259L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	259					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.L259L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGCGACTTAAGTATAGCCT	0.383000													30	23					0	0	0.064281	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097814	34097814	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:34097814G>C	ENST00000341394.4	+	5	587	c.398G>C	c.(397-399)cGg>cCg	p.R133P	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.R52P|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.R133P|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.R133P|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.R133P	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	133					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	p.R133P(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ACAGCACGTCGGGAGCAGCTT	0.353000													8	45					0	0	0.047766	0	0
C10orf137	26098	broad.mit.edu	37	10	127441455	127441455	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:127441455A>G	ENST00000337623.3	+	22	3368	c.3263A>G	c.(3262-3264)cAg>cGg	p.Q1088R	C10orf137_ENST00000356792.4_Missense_Mutation_p.Q1122R	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.Q1088R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCTTATCCAGAAGGAGCTT	0.388000													17	38					0	0	0.038395	0	0
ORC5	5001	broad.mit.edu	37	7	103838232	103838232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103838232C>A	ENST00000297431.4	-	4	524	c.382G>T	c.(382-384)Gag>Tag	p.E128*	ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000447452.2_Nonsense_Mutation_p.E128*|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	128					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	p.E128*(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTAGATACTCTGCTTTATCT	0.323000													20	16					2.39556e-15	3.73032e-15	0.076483	1	0
KIF2B	84643	broad.mit.edu	37	17	51900573	51900573	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:51900573G>T	ENST00000268919.4	+	1	335	c.179G>T	c.(178-180)tGg>tTg	p.W60L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	60					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGGTAGAGTGGGTGGAGAAA	0.552000													51	14					4.86159e-25	8.76456e-25	0.048971	1	0
GRSF1	2926	broad.mit.edu	37	4	71701992	71701992	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:71701992G>A	ENST00000254799.6	-	2	514	c.397C>T	c.(397-399)Cct>Tct	p.P133S	GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.P15S|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	133	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.P133S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCATACTCAGGGGGTGGTGGA	0.423000													7	41					0	0	0.038147	0	0
PCDH17	27253	broad.mit.edu	37	13	58207410	58207410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:58207410G>T	ENST00000377918.3	+	1	756	c.730G>T	c.(730-732)Gag>Tag	p.E244*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	244	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E244*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCGGTCTTCGAGGCGCCATC	0.607000													27	21					1.2476e-16	1.99118e-16	0.030593	1	0
ZNF665	79788	broad.mit.edu	37	19	53669454	53669454	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:53669454C>G	ENST00000600412.1	-	2	209	c.94G>C	c.(94-96)Gac>Cac	p.D32H	ZNF665_ENST00000396424.3_Missense_Mutation_p.D97H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D97H(1)|p.D32H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACTCAAAGTCGTATGTATTT	0.403000													115	32					0	0	0.048971	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651688	1651688	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:1651688A>T	ENST00000399676.2	+	1	656	c.618A>T	c.(616-618)tcA>tcT	p.S206S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	206	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S206S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGCTTCTCAGGCTGTGGAT	0.592000													101	60					0	0	0.048971	0	0
ZNF728	388523	broad.mit.edu	37	19	23159167	23159167	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:23159167G>T	ENST00000594710.1	-	4	1117	c.972C>A	c.(970-972)tcC>tcA	p.S324S		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TAAGGTTTGAGGACCGGTTGA	0.423000													48	18					1.23103e-26	2.25747e-26	0.045515	1	0
FAM131B	9715	broad.mit.edu	37	7	143057165	143057165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:143057165G>T	ENST00000409408.1	-	1	1730	c.22C>A	c.(22-24)Cac>Aac	p.H8N	FAM131B_ENST00000409578.1_Missense_Mutation_p.H36N|FAM131B_ENST00000409346.1_Missense_Mutation_p.H8N|FAM131B_ENST00000409222.3_Missense_Mutation_p.H8N|FAM131B_ENST00000443739.2_Missense_Mutation_p.H36N			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	8								p.H8N(1)|p.H36N(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CTGCTCCCGTGCAGTGAGCTG	0.572000													6	13					5.18039e-06	6.03907e-06	0.038147	1	0
CSMD2	114784	broad.mit.edu	37	1	34038154	34038154	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:34038154G>T	ENST00000373381.4	-	50	7890	c.7714C>A	c.(7714-7716)Ctg>Atg	p.L2572M		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2574	Sushi 15.					integral to membrane|plasma membrane	protein binding	p.L2574M(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGTGTCCAGACACTCTGCA	0.587000													52	41					3.50607e-19	5.98369e-19	0.048971	1	0
PSG7	5676	broad.mit.edu	37	19	43433838	43433838	+	RNA	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:43433838A>G	ENST00000446844.3	-	0	554				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGGGGTTGAAATTGCTGCTGG	0.522000													127	31					0	0	0.048971	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208962	1208962	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:1208962G>T	ENST00000304460.10	+	2	360	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	102					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G102C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGCCTGGGTGTGTGGAG	0.682000													9	24					0.00621372	0.006498	0.058154	1	0
BOD1L1	259282	broad.mit.edu	37	4	13601770	13601770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:13601770C>A	ENST00000040738.5	-	10	6889	c.6754G>T	c.(6754-6756)Ggg>Tgg	p.G2252W		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2252							DNA binding	p.G2252W(1)									ATGCCACTCCCGTCTTTTTCT	0.527000													9	11					0.00448238	0.00471055	0.047766	1	0
UGT2B10	7365	broad.mit.edu	37	4	69682288	69682288	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:69682288G>C	ENST00000265403.7	+	1	578	c.551G>C	c.(550-552)gGa>gCa	p.G184A	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	184					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G184A(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGGCACAGTGGAGGATTTATT	0.413000													50	49					0	0	0.048971	0	0
C6orf15	29113	broad.mit.edu	37	6	31079369	31079369	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:31079369T>C	ENST00000259870.3	-	2	770	c.767A>G	c.(766-768)tAt>tGt	p.Y256C		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	256	Gly-rich.							p.Y256C(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCCTCCTGGATACCGATTAAT	0.522000													27	20					0	0	0.041601	0	0
AKNA	80709	broad.mit.edu	37	9	117118346	117118346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:117118346T>A	ENST00000307564.4	-	14	3078	c.2917A>T	c.(2917-2919)Agg>Tgg	p.R973W	AKNA_ENST00000374075.5_Missense_Mutation_p.R892W|AKNA_ENST00000374088.3_Missense_Mutation_p.R973W|AKNA_ENST00000223791.3_Missense_Mutation_p.R433W	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	973					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R973W(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGAGAACCCCTGGCCTTGGGG	0.632000													22	26					0	0	0.062417	0	0
FGR	2268	broad.mit.edu	37	1	27949654	27949654	+	Splice_Site	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:27949654C>T	ENST00000374005.3	-	4	516	c.226_splice	c.e4-1	p.G76_splice	FGR_ENST00000545953.1_Splice_Site_p.G76_splice|FGR_ENST00000374004.1_Splice_Site_p.G76_splice|FGR_ENST00000399173.1_Splice_Site_p.G76_splice	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	76					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G76G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCCCAATCCCTGCAGAGT	0.572000													7	15					0	0	0.029380	0	0
MYBL1	4603	broad.mit.edu	37	8	67509761	67509761	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:67509761C>A	ENST00000522677.3	-	5	726	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	MYBL1_ENST00000517885.1_Splice_Site_p.G106_splice|MYBL1_ENST00000524176.2_Missense_Mutation_p.G106W	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	106	HTH myb-type 2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G106W(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CTTTTTGGCCCATATTTCTGA	0.299000													23	27					2.89027e-11	3.96947e-11	0.069288	1	0
KANK4	163782	broad.mit.edu	37	1	62739527	62739527	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:62739527C>A	ENST00000371153.4	-	3	1627	c.1249G>T	c.(1249-1251)Gac>Tac	p.D417Y	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	417								p.D417Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGACAGGGTCAGTGTTCACC	0.537000													32	414					3.21399e-22	5.71377e-22	0.074837	1	0
TBC1D19	55296	broad.mit.edu	37	4	26661218	26661218	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:26661218G>T	ENST00000264866.4	+	8	758		c.e8-1		TBC1D19_ENST00000511789.1_Splice_Site|TBC1D19_ENST00000515568.1_Splice_Site	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19							intracellular	Rab GTPase activator activity	p.?(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGTTTTTAAAGGTATTAATTA	0.303000													4	32					0.00909568	0.00940426	0.009096	1	0
ZNF671	79891	broad.mit.edu	37	19	58238788	58238788	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:58238788G>C	ENST00000317398.6	-	1	204	c.109C>G	c.(109-111)Cct>Gct	p.P37A	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.P37A|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P37A(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCGCCATAGGACCGTGGGCG	0.687000													15	3					0	0	0.038395	0	0
NLRP3	114548	broad.mit.edu	37	1	247586625	247586625	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:247586625G>T	ENST00000366497.2	+	3	1157	c.377G>T	c.(376-378)aGa>aTa	p.R126I	NLRP3_ENST00000366496.2_Missense_Mutation_p.R126I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R126I|NLRP3_ENST00000336119.3_Missense_Mutation_p.R126I|NLRP3_ENST00000348069.2_Missense_Mutation_p.R126I|NLRP3_ENST00000391827.2_Missense_Mutation_p.R126I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	126					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R126I(1)|p.R126K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TACCTTTCGAGAATCTCTATT	0.458000													20	62					5.49717e-05	6.18311e-05	0.083992	1	0
SCN4A	6329	broad.mit.edu	37	17	62018356	62018356	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:62018356C>A	ENST00000578147.1	-	24	5362	c.5286G>T	c.(5284-5286)ggG>ggT	p.G1762G	SCN4A_ENST00000435607.1_Silent_p.G1762G			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1762					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1762G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCGTCATCCCCGCTGCCGT	0.622000													33	15					7.61165e-28	1.40794e-27	0.064281	1	0
POLR1B	84172	broad.mit.edu	37	2	113300233	113300233	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:113300233C>T	ENST00000263331.5	+	1	742	c.162C>T	c.(160-162)ctC>ctT	p.L54L	POLR1B_ENST00000541869.1_Silent_p.L92L|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000409894.3_Silent_p.L54L|POLR1B_ENST00000417433.2_Silent_p.L54L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	54					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.L54L(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ACGAGGGTCTCGGCCTCGCGG	0.672000													15	16					0	0	0.028581	0	0
PCDH1	5097	broad.mit.edu	37	5	141248253	141248253	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:141248253T>A	ENST00000287008.3	-	2	931	c.784A>T	c.(784-786)Agc>Tgc	p.S262C	PCDH1_ENST00000394536.3_Missense_Mutation_p.S262C|PCDH1_ENST00000536585.1_Missense_Mutation_p.S240C|PCDH1_ENST00000456271.1_Missense_Mutation_p.S250C|PCDH1_ENST00000503492.1_Missense_Mutation_p.S262C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	262	Cadherin 2.			S -> T (in Ref. 4; AAA36419).	cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.S262C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGGGCACTGCTGGCGCGTGGG	0.607000													8	15					0	0	0.047766	0	0
FAM131B	9715	broad.mit.edu	37	7	143054044	143054044	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:143054044A>G	ENST00000409408.1	-	6	2306	c.598T>C	c.(598-600)Tcg>Ccg	p.S200P	FAM131B_ENST00000409578.1_Missense_Mutation_p.S216P|FAM131B_ENST00000409346.1_Missense_Mutation_p.S200P|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200P|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228P			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200								p.S200P(1)|p.S228P(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCATCTGACGACCCCAGACAG	0.557000													5	30					0	0	0.021553	0	0
UNC45B	146862	broad.mit.edu	37	17	33491042	33491042	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:33491042G>T	ENST00000268876.5	+	9	1105	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G	UNC45B_ENST00000591048.1_Silent_p.G336G|UNC45B_ENST00000378449.1_Silent_p.G336G|UNC45B_ENST00000433649.1_Silent_p.G336G|UNC45B_ENST00000394570.2_Silent_p.G336G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	336					cell differentiation|muscle organ development	cytosol	binding	p.G336G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTTGTGGGGCAGGTTCCAG	0.567000													79	33					9.25274e-37	1.79447e-36	0.048971	1	0
CYP2E1	1571	broad.mit.edu	37	10	135352302	135352302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:135352302G>T	ENST00000463117.2	+	11	1588	c.1316G>T	c.(1315-1317)gGa>gTa	p.G439V	CYP2E1_ENST00000252945.3_Missense_Mutation_p.G439V|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	439					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	p.G439V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GTGTGTGCTGGAGAAGGCCTG	0.468000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				51	80					1.22102e-19	2.11775e-19	0.048971	1	0
CCDC178	374864	broad.mit.edu	37	18	30903461	30903461	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:30903461G>T	ENST00000383096.3	-	11	1198	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	CCDC178_ENST00000579947.1_Missense_Mutation_p.A339D|CCDC178_ENST00000403303.1_Missense_Mutation_p.A339D|CCDC178_ENST00000583930.1_Missense_Mutation_p.A339D|CCDC178_ENST00000402325.1_Missense_Mutation_p.A339D|CCDC178_ENST00000300227.8_Missense_Mutation_p.A339D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.A339D					coiled-coil domain containing 178									p.A339E(2)									TTACTTGTAGGCCTCTATGGT	0.284000													5	17					0.00116845	0.00125471	0.021553	1	0
AOX1	316	broad.mit.edu	37	2	201473757	201473757	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:201473757G>T	ENST00000374700.2	+	11	1199	c.958G>T	c.(958-960)Gct>Tct	p.A320S		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	320	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A320S(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGACATTTTGGCTGATGTAGT	0.498000													16	9					0.006122	0.00641257	0.038395	1	0
FPGT	8790	broad.mit.edu	37	1	74670277	74670277	+	Silent	SNP	G	G	A	rs139749795	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:74670277G>A	ENST00000370898.2	+	4	583	c.546G>A	c.(544-546)agG>agA	p.R182R	TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase									p.R182R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTTTATTAGGTTTGACAAAC	0.353000													16	147					0	0	0.024245	0	0
ITGAD	3681	broad.mit.edu	37	16	31414948	31414948	+	Missense_Mutation	SNP	C	C	A	rs144787223		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:31414948C>A	ENST00000389202.2	+	7	735	c.686C>A	c.(685-687)aCg>aAg	p.T229K	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	229	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.T229K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCACGGCCACGGGCATCCTG	0.607000													27	22					7.07758e-08	8.9874e-08	0.099896	1	0
PRRC2A	7916	broad.mit.edu	37	6	31599147	31599147	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:31599147C>T	ENST00000376033.2	+	16	2931	c.2697C>T	c.(2695-2697)ggC>ggT	p.G899G	PRRC2A_ENST00000376007.4_Silent_p.G899G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	899	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.G899G(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGAAGCAGGCCGAAAGCCTG	0.667000													8	14					0	0	0.047766	0	0
CASC4	113201	broad.mit.edu	37	15	44630106	44630106	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:44630106G>T	ENST00000299957.6	+	5	1020		c.e5+1		CASC4_ENST00000360824.3_Splice_Site|CASC4_ENST00000345795.2_Splice_Site	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4							integral to membrane		p.?(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CATGGGAAAGGTATTATTGTT	0.279000													16	24					3.52763e-06	4.16547e-06	0.033300	1	0
CD1D	912	broad.mit.edu	37	1	158152741	158152741	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:158152741A>T	ENST00000368171.3	+	5	1180	c.681A>T	c.(679-681)tcA>tcT	p.S227S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	227	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.S227S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCATGTCTCAGGATTCTACC	0.617000													43	52					0	0	0.098360	0	0
ZNF532	55205	broad.mit.edu	37	18	56586014	56586014	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:56586014G>T	ENST00000336078.4	+	4	1271	c.495G>T	c.(493-495)acG>acT	p.T165T	ZNF532_ENST00000591808.1_Silent_p.T165T|ZNF532_ENST00000591230.1_Silent_p.T165T|ZNF532_ENST00000591083.1_Silent_p.T165T|ZNF532_ENST00000589288.1_Silent_p.T165T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T165T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGTGTTGACGGGGTCGGCTC	0.527000													20	59					1.15919e-05	1.32953e-05	0.049695	1	0
ZNF536	9745	broad.mit.edu	37	19	31040278	31040278	+	Missense_Mutation	SNP	C	C	A	rs148378803		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:31040278C>A	ENST00000355537.3	+	4	3899	c.3752C>A	c.(3751-3753)cCg>cAg	p.P1251Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1251Q(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCCAAAGCCGGAGCGGGGG	0.612000													17	3					3.57192e-18	5.96875e-18	0.038395	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177268	89177268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:89177268G>T	ENST00000561129.2	+	1	314	c.184G>T	c.(184-186)Gtt>Ttt	p.V62F	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.V62F			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V62F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGCCGAGTCCGTTAAGATCCT	0.468000													44	2					1.46156e-29	2.71918e-29	0.048971	1	0
RYR2	6262	broad.mit.edu	37	1	237948103	237948103	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237948103C>A	ENST00000366574.2	+	90	13408	c.13091C>A	c.(13090-13092)aCc>aAc	p.T4364N	RYR2_ENST00000360064.6_Missense_Mutation_p.T4370N|RYR2_ENST00000542537.1_Missense_Mutation_p.T4348N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4364					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4362N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGATCTGACCGACTTAAAG	0.527000													7	28					1.06961e-07	1.3449e-07	0.038147	1	0
HRG	3273	broad.mit.edu	37	3	186395105	186395105	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:186395105C>A	ENST00000232003.4	+	7	1091	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	337					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.A337A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAAATGGGGCCCAAAGACATT	0.502000													14	16					1.3612e-06	1.63754e-06	0.024245	1	0
ZNF236	7776	broad.mit.edu	37	18	74607043	74607043	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:74607043G>T	ENST00000253159.8	+	10	1684	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.D498Y	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	496					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D496Y(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGCCCAGCGACCTGGTCCG	0.652000													23	34					3.28513e-13	4.74601e-13	0.091800	1	0
DEF8	54849	broad.mit.edu	37	16	90032312	90032312	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:90032312C>T	ENST00000563594.1	+	13	2294	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	DEF8_ENST00000569453.1_Missense_Mutation_p.R433W|DEF8_ENST00000268676.7_Missense_Mutation_p.R494W|DEF8_ENST00000563795.1_Missense_Mutation_p.R416W|DEF8_ENST00000570182.1_Missense_Mutation_p.R423W|DEF8_ENST00000567874.1_Missense_Mutation_p.R373W	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	494					intracellular signal transduction		zinc ion binding	p.R494W(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAAGTGTGCCCGGCTCAGCCT	0.647000													5	17					0	0	0.014758	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242304	87242304	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:87242304G>A	ENST00000297524.3	-	1	306	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A68V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	68						integral to membrane	amino acid transmembrane transporter activity	p.A68L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ACTTATCTCTGCAGAGCAAAG	0.478000													42	31					0	0	0.111260	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67242971	67242971	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:67242971G>T	ENST00000282670.2	+	5	502	c.374G>T	c.(373-375)cGg>cTg	p.R125L		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	125								p.R125L(1)		large_intestine(2)|lung(10)|skin(1)	13						ATGATTCCACGGTATAAACTA	0.383000													114	49					1.25929e-39	2.46467e-39	0.048971	1	0
DLGAP3	58512	broad.mit.edu	37	1	35334650	35334650	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:35334650C>T	ENST00000373347.1	-	9	2309	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.V681M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	681					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.V681M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTGCCTGCACGCCAGCCGTC	0.657000													5	9					0	0	0.021553	0	0
RIMS2	9699	broad.mit.edu	37	8	105235886	105235886	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:105235886C>A	ENST00000339750.2	+	1	7	c.7C>A	c.(7-9)Cgg>Agg	p.R3R	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGATGGGCCGGCAGGGCTT	0.706000										HNSCC(12;0.0054)			20	13					2.21704e-12	3.14613e-12	0.076483	1	0
PABPC1L	80336	broad.mit.edu	37	20	43552898	43552898	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:43552898G>T	ENST00000255136.3	+	7	1054		c.e7+1		PABPC1L_ENST00000490798.1_Splice_Site|PABPC1L_ENST00000537323.1_Splice_Site|PABPC1L_ENST00000217074.4_Splice_Site|PABPC1L_ENST00000217073.2_Splice_Site	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like								nucleotide binding|RNA binding	p.?(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGTGCGAAGGTGAGGACTGG	0.577000													23	20					9.57634e-11	1.30124e-10	0.083992	1	0
KCNU1	157855	broad.mit.edu	37	8	36793073	36793073	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:36793073C>A	ENST00000399881.3	+	27	3122	c.3085C>A	c.(3085-3087)Cct>Act	p.P1029T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1029						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P1029T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAAGCTGCTGCCTTCAGATCT	0.438000													56	58					2.40265e-35	4.6177e-35	0.048971	1	0
MAB21L3	126868	broad.mit.edu	37	1	116670876	116670876	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:116670876G>A	ENST00000369500.3	+	6	1036	c.771G>A	c.(769-771)agG>agA	p.R257R		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	257								p.R257R(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GCTGCCGTAGGAAGTGTTTTC	0.552000													7	18					0	0	0.038147	0	0
HSD3B2	3284	broad.mit.edu	37	1	119962122	119962122	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:119962122T>A	ENST00000543831.1	+	3	473	c.224T>A	c.(223-225)gTc>gAc	p.V75D	HSD3B2_ENST00000369416.3_Missense_Mutation_p.V75D|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	75					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.V75D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TGCCAGGACGTCTCGGTCGTC	0.502000													10	16					0	0	0.058154	0	0
RYR3	6263	broad.mit.edu	37	15	33842464	33842464	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:33842464G>T	ENST00000389232.4	+	10	989	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D307Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	307	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D307Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATACTGCAAGACCGGGCAAA	0.512000													6	13					0.0293803	0.0300374	0.029380	1	0
GPR133	283383	broad.mit.edu	37	12	131487810	131487810	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:131487810G>A	ENST00000261654.5	+	10	1666	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	GPR133_ENST00000376682.4_Silent_p.T55T|GPR133_ENST00000535015.1_Silent_p.T401T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	369					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T369T(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACGGCAGCACGCCCCAGGTCA	0.617000													55	18					0	0	0.048971	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739638	34739638	+	RNA	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:34739638G>T	ENST00000562591.1	-	0	284					NR_034019.1																						ATTTAAATTTGTGTCTTCCAA	0.403000													3	5					0.00909568	0.00940426	0.009096	1	0
CRB1	23418	broad.mit.edu	37	1	197390204	197390204	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:197390204C>A	ENST00000367397.1	+	0	247				CRB1_ENST00000367399.2_Missense_Mutation_p.P304T|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000538660.1_Missense_Mutation_p.P416T|CRB1_ENST00000367400.3_Missense_Mutation_p.P416T|CRB1_ENST00000535699.1_Missense_Mutation_p.P347T|CRB1_ENST00000543483.1_Missense_Mutation_p.P115T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.P416T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAGAACTTGCCTGGGAATTA	0.408000													28	73					9.80776e-20	1.7057e-19	0.030593	1	0
FGFR1	2260	broad.mit.edu	37	8	38274924	38274924	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:38274924T>C	ENST00000447712.2	-	12	2504	c.1563A>G	c.(1561-1563)acA>acG	p.T521T	FGFR1_ENST00000397113.2_Silent_p.T519T|FGFR1_ENST00000326324.6_Silent_p.T430T|FGFR1_ENST00000425967.3_Silent_p.T552T|FGFR1_ENST00000397103.1_Silent_p.T432T|FGFR1_ENST00000532791.1_Silent_p.T519T|FGFR1_ENST00000335922.5_Silent_p.T511T|FGFR1_ENST00000397091.5_Silent_p.T519T|FGFR1_ENST00000356207.5_Silent_p.T432T|FGFR1_ENST00000397108.4_Silent_p.T519T|FGFR1_ENST00000341462.5_Silent_p.T521T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	521	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.T521T(3)|p.T511T(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	AGTCTTTCTCTGTTGCGTCCG	0.502000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						66	26					0	0	0.048971	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889461	23889461	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:23889461G>C	ENST00000532292.1	-	1	1714	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V		NM_019066.4	NP_061939.3			MAGE-like 2									p.V540V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGTCTCCCGGACATCCAACC	0.458000													17	12					0	0	0.033300	0	0
LRFN5	145581	broad.mit.edu	37	14	42356124	42356124	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:42356124G>T	ENST00000554171.1	+	5	2728	c.296G>T	c.(295-297)cGa>cTa	p.R99L	LRFN5_ENST00000554120.1_Missense_Mutation_p.R99L|LRFN5_ENST00000298119.4_Missense_Mutation_p.R99L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	99						integral to membrane		p.R99L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGACCTACGAAATTTGAGG	0.358000										HNSCC(30;0.082)			22	67					1.64293e-13	2.39517e-13	0.083992	1	0
DNAAF3	352909	broad.mit.edu	37	19	55671298	55671298	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:55671298C>A	ENST00000527223.2	-	10	1334	c.1333G>T	c.(1333-1335)Ggc>Tgc	p.G445C	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G425C|DNAAF3_ENST00000455045.1_Missense_Mutation_p.G324C|DNAAF3_ENST00000524407.2_Missense_Mutation_p.G378C|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.R39L	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	378								p.G425C(1)									TGGAATCGGCCGTTGTAGCAG	0.627000													26	11					2.61193e-14	3.92403e-14	0.041601	1	0
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:66992626C>A	ENST00000276570.5	+	5	635	c.348C>A	c.(346-348)atC>atA	p.I116I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	116					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.I116I(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557000													27	69					4.34311e-12	6.04258e-12	0.059317	1	0
ANKRD1	27063	broad.mit.edu	37	10	92678728	92678728	+	Splice_Site	SNP	G	G	T	rs142354133		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:92678728G>T	ENST00000371697.3	-	4	595	c.345_splice	c.e4-1	p.T116_splice		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	116			T -> M (in TAPVR).		cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.T116K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACAGGTTCCGTCTAAAGCCA	0.363000													28	30					7.01153e-11	9.54762e-11	0.034045	1	0
TCP10L2	401285	broad.mit.edu	37	6	167592552	167592552	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:167592552A>T	ENST00000366832.2	+	6	842	c.711A>T	c.(709-711)ccA>ccT	p.P237P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	237								p.P237P(2)		endometrium(1)|kidney(2)|lung(3)	6						GAAAATCACCAGTGCAGGCTT	0.577000													6	0					0	0	0.069234	0	0
TARSL2	123283	broad.mit.edu	37	15	102197239	102197239	+	Splice_Site	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:102197239C>T	ENST00000335968.3	-	18	2362	c.2145_splice	c.e18-1	p.V716_splice	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	716					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCACTGGATACCTAGAAGAAA	0.393000													17	17					0	0	0.028581	0	0
COL1A2	1278	broad.mit.edu	37	7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	rs72658196		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:94052404G>A	ENST00000297268.6	+	40	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	847			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G847S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502000										HNSCC(75;0.22)			13	55					0	0	0.020292	0	0
PADI1	29943	broad.mit.edu	37	1	17548814	17548814	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:17548814G>T	ENST00000375471.4	+	2	214	c.122G>T	c.(121-123)aGg>aTg	p.R41M		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	41					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R41I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACAGCTTCAGGGTCTCTGGA	0.577000													10	39					0.000442599	0.00048504	0.058154	1	0
SPRY3	10251	broad.mit.edu	37	X	155003584	155003584	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:155003584G>C	ENST00000302805.2	+	2	482	c.51G>C	c.(49-51)caG>caC	p.Q17H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	17					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.Q17H(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTATTGAACAGCTGCGCTCTA	0.483000													35	72					0	0	0.059317	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804340	14804340	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:14804340C>A	ENST00000261170.3	-	15	1847		c.e15+1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.?(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGGTTTCTTACCCGGAGGGAT	0.368000													13	91					1.5842e-08	2.04826e-08	0.105934	1	0
KLKB1	3818	broad.mit.edu	37	4	187179225	187179225	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:187179225G>T	ENST00000264690.6	+	15	1963	c.1776G>T	c.(1774-1776)ttG>ttT	p.L592F	KLKB1_ENST00000513864.1_Missense_Mutation_p.G546C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	592	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.L592F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGTGGCGTTTGGTGGGCATCA	0.478000													26	25					3.65163e-15	5.6587e-15	0.030593	1	0
RELN	5649	broad.mit.edu	37	7	103234902	103234902	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103234902G>T	ENST00000428762.1	-	26	3736	c.3577C>A	c.(3577-3579)Cct>Act	p.P1193T	RELN_ENST00000343529.5_Missense_Mutation_p.P1193T|RELN_ENST00000424685.2_Missense_Mutation_p.P1193T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1193					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.P1193N(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTGCAAGGGGTCTTGGCA	0.478000													33	117					2.20474e-14	3.3279e-14	0.064281	1	0
CD1E	913	broad.mit.edu	37	1	158325743	158325743	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:158325743A>T	ENST00000444681.2	+	3	748	c.455A>T	c.(454-456)cAg>cTg	p.Q152L	CD1E_ENST00000368164.3_Missense_Mutation_p.Q62L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368166.3_Missense_Mutation_p.Q62L|CD1E_ENST00000452291.2_Missense_Mutation_p.Q62L|CD1E_ENST00000434258.1_Missense_Mutation_p.Q249L|CD1E_ENST00000368160.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368165.3_Missense_Mutation_p.Q161L|CD1E_ENST00000368156.1_Missense_Mutation_p.Q161L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368155.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	251					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.Q251L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGCAGGAGCAGCGGGGCACT	0.647000													24	40					0	0	0.108266	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202352544	202352544	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:202352544A>T	ENST00000439140.1	-	16	5298	c.5254T>A	c.(5254-5256)Tta>Ata	p.L1752I	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.L555I|ALS2CR11_ENST00000482942.1_5'UTR	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	555								p.L555I(1)|p.L1752I(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTTTTTCCTAAAAGCCTTGAT	0.353000													49	138					0	0	0.048971	0	0
TTLL11	158135	broad.mit.edu	37	9	124801637	124801637	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:124801637C>A	ENST00000321582.5	-	2	930	c.743G>T	c.(742-744)gGc>gTc	p.G248V	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.G248V	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	248	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.G248V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAAGCGCCGGCCAAATGGGAA	0.438000													17	9					0.000566183	0.000619414	0.033300	1	0
OSR2	116039	broad.mit.edu	37	8	99961564	99961564	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:99961564G>C	ENST00000297565.4	+	2	880	c.384G>C	c.(382-384)gaG>gaC	p.E128D	OSR2_ENST00000523368.1_Missense_Mutation_p.E128D|OSR2_ENST00000435298.2_Missense_Mutation_p.E128D|OSR2_ENST00000522510.1_Missense_Mutation_p.E128D|OSR2_ENST00000457907.2_Missense_Mutation_p.E249D	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	128					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.E128E(1)|p.E128D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCACGCAAGAGGATCCGCCTA	0.617000													49	130					0	0	0.048971	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373230	84373230	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:84373230G>T	ENST00000286744.5	+	3	383	c.159G>T	c.(157-159)gaG>gaT	p.E53D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E53D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	53						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.E53D(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAACAGGGGAGCAGTTCCTCA	0.458000													84	70					1.19347e-43	2.35747e-43	0.048971	1	0
WNT10A	80326	broad.mit.edu	37	2	219754782	219754782	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:219754782G>T	ENST00000258411.3	+	3	1086	c.453G>T	c.(451-453)ctG>ctT	p.L151L	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	151					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGTGCCCTGGGCAAACTGA	0.612000													8	43					0.00307968	0.00325247	0.038147	1	0
ARPP21	10777	broad.mit.edu	37	3	35763114	35763114	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:35763114C>T	ENST00000187397.4	+	14	1469	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	ARPP21_ENST00000458225.1_Missense_Mutation_p.S304L|ARPP21_ENST00000337271.5_Missense_Mutation_p.S284L|ARPP21_ENST00000444190.1_Missense_Mutation_p.S284L|ARPP21_ENST00000417925.1_Missense_Mutation_p.S304L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	338	Ser-rich.					cytoplasm	nucleic acid binding	p.S338L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAGATGGCTCAGGGAGAACA	0.532000													5	17					0	0	0.014758	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763012	140763012	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140763012G>A	ENST00000518325.1	+	1	546	c.546G>A	c.(544-546)gtG>gtA	p.V182V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1												p.V182V(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)			CCCTGGCTGTGCAAAGTGGAG	0.602000													7	19					0	0	0.029380	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33535096	33535096	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:33535096C>A	ENST00000504830.1	-	23	4783	c.4446_splice	c.e23-1	p.C1483_splice	ADAMTS12_ENST00000352040.3_Splice_Site_p.C1398_splice	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1483	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1483F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAAGTGGAACACTGAAAGAG	0.488000										HNSCC(64;0.19)			8	29					2.17888e-05	2.48128e-05	0.058154	1	0
PEAR1	375033	broad.mit.edu	37	1	156883536	156883536	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:156883536C>A	ENST00000338302.3	+	22	2922	c.2697C>A	c.(2695-2697)ggC>ggA	p.G899G	PEAR1_ENST00000292357.7_Silent_p.G899G			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	899	Pro-rich.					integral to membrane		p.G899G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGGCCCAGGCCCATTCTACA	0.597000													24	13					6.21321e-17	9.99109e-17	0.076483	1	0
TFR2	7036	broad.mit.edu	37	7	100225567	100225567	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:100225567G>T	ENST00000462107.1	-	14	1855	c.1568C>A	c.(1567-1569)cCc>cAc	p.P523H	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.P523H|TFR2_ENST00000544242.1_Missense_Mutation_p.P64H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	523					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	p.P523H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGTCAGAAGGGGGCTGGTCTT	0.607000													36	33					2.40579e-17	3.89799e-17	0.086207	1	0
OR1J4	26219	broad.mit.edu	37	9	125282291	125282291	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:125282291G>T	ENST00000340750.1	+	1	872	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S291I(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTCATTTATAGCCTAAGGAAC	0.448000													7	26					0.00448238	0.00471055	0.047766	1	0
PRM2	5620	broad.mit.edu	37	16	11369761	11369761	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:11369761T>A	ENST00000435245.2	-	2	458	c.349A>T	c.(349-351)Act>Tct	p.T117S	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.H102L			P04554	PRM2_HUMAN	protamine 2	0					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.H102L(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GGAAGCTTAGTGCCTTCTGCA	0.537000													3	12					0	0	0.004672	0	0
BRWD3	254065	broad.mit.edu	37	X	79936987	79936987	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:79936987C>A	ENST00000373275.4	-	40	4723	c.4507G>T	c.(4507-4509)Gct>Tct	p.A1503S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1503								p.A1503S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGCCCTTCAGCAGCATCTGAA	0.368000													40	9					1.67305e-13	2.43352e-13	0.086207	1	0
ROBO1	6091	broad.mit.edu	37	3	78766425	78766425	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:78766425C>A	ENST00000436010.2	-	5	1797	c.800_splice	c.e5+1	p.R267_splice	ROBO1_ENST00000464233.1_Splice_Site_p.R306_splice|ROBO1_ENST00000467549.1_Splice_Site_p.R267_splice|ROBO1_ENST00000495273.1_Splice_Site_p.R267_splice			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	306	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.R306I(2)|p.R267I(1)|p.R283I(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGATGTGTACCTGGATTTGGG	0.448000													56	104					2.3441e-25	4.262e-25	0.048971	1	0
ARHGEF3	50650	broad.mit.edu	37	3	56779265	56779265	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:56779265C>T	ENST00000413728.2	-	7	1399	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D286N|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D312N|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D251N|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D280N|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D280N	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	280	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.D280N(2)|p.D312N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCTGGATTATCATTTGGTGTG	0.448000													41	51					0	0	0.111260	0	0
HFM1	164045	broad.mit.edu	37	1	91841140	91841141	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:91841140_91841141delTG	ENST00000370425.3	-	12	1637_1638	c.1539_1540delCA	c.(1537-1542)ctacfs	p.LN513fs	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Frame_Shift_Del_p.LN192fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	513							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTTTGTAGTTGAGGGTTAAAT	0.356													22	65	---	---	---	---					
GFPT1	2673	broad.mit.edu	37	2	69577211	69577211	+	Splice_Site	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:69577211delT	ENST00000357308.4	-	10	1022	c.845_splice	c.e10+1	p.S282_splice	GFPT1_ENST00000361060.4_Splice_Site_p.S264_splice	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	282	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GAAGCTCACCTTGCATCAGAA	0.428													11	9	---	---	---	---					
DGUOK	1716	broad.mit.edu	37	2	74166144	74166145	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:74166144_74166145insA	ENST00000264093.4	+	2	335_336	c.250_251insA	c.(250-252)aaafs	p.K84fs	DGUOK_ENST00000348222.1_Frame_Shift_Ins_p.K84fs|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	84					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						TGCTGGCACCCAAAAAGTAAGT	0.416													15	46	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89100646	89100646	+	RNA	DEL	A	A	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:89100646delA	ENST00000393525.3	+	0	1120																											CAAAGCTGACAATCAAGAAAA	0.378													54	112	---	---	---	---					
IGKV2D-29	28882	broad.mit.edu	37	2	89986468	89986468	+	RNA	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:89986468delC	ENST00000491977.1	+	0	79																											CCCACTGATTCCCGTGTTTAT	0.498													11	8	---	---	---	---					
GPR45	11250	broad.mit.edu	37	2	105858804	105858804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:105858804delG	ENST00000258456.1	+	1	605	c.489delG	c.(487-489)gcfs	p.A163fs		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	163						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCTGCATCGCGGGGCCCTCGC	0.697													21	11	---	---	---	---					
MZT2A	653784	broad.mit.edu	37	2	132241761	132241761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:132241761delC	ENST00000309451.6	-	3	395	c.350delG	c.(349-351)gafs	p.G117fs	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	117						centrosome|gamma-tubulin ring complex|spindle				breast(1)|lung(1)	2						GGCCAATACTCCCCCGAGGGC	0.632													13	84	---	---	---	---					
LOC150776	150776	broad.mit.edu	37	2	132276832	132276832	+	RNA	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:132276832delG	ENST00000438378.2	+	0	2152					NR_026922.1																						AGAAGGCCCTGGAGTACCTGC	0.602													17	26	---	---	---	---					
SCN1A	6323	broad.mit.edu	37	2	166946540	166946555	+	RNA	DEL	TTTTTTTTTTTTTTTT	TTTTTTTTTTTTTTTT	-	rs57637865		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:166946540_166946555delTTTTTTTTTTTTTTTT	ENST00000447809.2	+	0	148				AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA																							ccttctttcctttttttttttttttttttttttttt	0.394													4	3	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179497479	179497480	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:179497479_179497480delTT	ENST00000589042.1	-	235	43477_43478	c.43253_43254delAA	c.(43252-43254)afs	p.K14418fs	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K5545fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K12777fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K5478fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K5353fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K11850fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12777	Fibronectin type-III 4.						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)			TCTCGAAGACTTTAACATCACT	0.426													32	91	---	---	---	---					
AGAP1	116987	broad.mit.edu	37	2	236649676	236649677	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:236649676_236649677insC	ENST00000409538.1	+	4	1671_1672	c.1175_1176insC	c.(1174-1176)gccfs	p.A392fs	AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.A127fs|AGAP1_ENST00000304032.7_Frame_Shift_Ins_p.A127fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.A127fs			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	127	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(1)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAGG	0.490													16	27	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810380	36810381	+	RNA	INS	-	-	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:36810380_36810381insT	ENST00000424886.1	-	0	405_406																											TGAGTGAGGCCttttttttttt	0.540													3	5	---	---	---	---					
SCN5A	6331	broad.mit.edu	37	3	38592373	38592373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:38592373delG	ENST00000413689.1	-	28	5683	c.5490delC	c.(5488-5490)ccfs	p.P1830fs	SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1797fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.P1830fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1829fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1812fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1829fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1812fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1830					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTATCTGGTTGGGCTTGGCGA	0.537													35	54	---	---	---	---					
IGF2BP2	10644	broad.mit.edu	37	3	185390353	185390353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:185390353delG	ENST00000382199.2	-	10	1271	c.1176delC	c.(1174-1176)ccfs	p.P392fs	IGF2BP2_ENST00000457616.2_Frame_Shift_Del_p.P398fs|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000421047.2_Frame_Shift_Del_p.P335fs	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	392					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGGGGGCAGCGGGGGGAGCTC	0.597													5	8	---	---	---	---					
RP11-689K5.3	0	broad.mit.edu	37	4	82931909	82931909	+	RNA	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:82931909delC	ENST00000510780.1	-	0	244																											GAACTGGGCTCCCACTTTGGG	0.393													8	13	---	---	---	---					
PGK2	5232	broad.mit.edu	37	6	49754088	49754088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:49754088delG	ENST00000304801.3	-	1	965	c.813delC	c.(811-813)gcfs	p.A271fs		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	271					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGTGCTTTGGCCATGATAT	0.428													25	114	---	---	---	---					
CALD1	800	broad.mit.edu	37	7	134644834	134644834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:134644834delC	ENST00000361388.2	+	12	1950	c.1484delC	c.(1483-1485)tcfs	p.S495fs	CALD1_ENST00000361675.2_Frame_Shift_Del_p.S724fs|CALD1_ENST00000422748.1_Frame_Shift_Del_p.S494fs|CALD1_ENST00000361901.2_Frame_Shift_Del_p.S469fs|CALD1_ENST00000543443.1_Frame_Shift_Del_p.S474fs|CALD1_ENST00000393118.2_Frame_Shift_Del_p.S489fs|CALD1_ENST00000424922.1_Frame_Shift_Del_p.S463fs|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_Frame_Shift_Del_p.S488fs|CALD1_ENST00000417172.1_Frame_Shift_Del_p.S469fs	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	724					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GTGTTTTCATCCCCCACTGCA	0.453													40	32	---	---	---	---					
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:138764850delG	ENST00000242351.5	-	4	1153	c.837delC	c.(835-837)atfs	p.I279fs	ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.I279fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.I279fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582													40	123	---	---	---	---					
AC068587.2	0	broad.mit.edu	37	8	12435588	12435588	+	RNA	DEL	A	A	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:12435588delA	ENST00000458954.1	+	0	75																											aagtaatggcaaaaacagcaa	0.403													14	178	---	---	---	---					
NAT1	9	broad.mit.edu	37	8	18079724	18079725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:18079724_18079725insG	ENST00000539092.1	+	5	859_860	c.168_169insG	c.(166-171)ttatcafs	p.S57fs	NAT1_ENST00000541942.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.S119fs|NAT1_ENST00000517492.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.S57fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.S57fs	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	57					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.D57Y(1)|p.D119Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		AGGCCATTTTTGATCAAGTTGT	0.465													44	64	---	---	---	---					
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:104897708delG	ENST00000507740.1	+	2	541	c.305delG	c.(304-306)agfs	p.R102fs	RIMS2_ENST00000262231.10_Frame_Shift_Del_p.R102fs|RIMS2_ENST00000436393.2_Frame_Shift_Del_p.R72fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.R294fs|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAGTTATAGGGACTCCAAC	0.408										HNSCC(12;0.0054)			36	86	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124408447	124408447	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:124408447delC	ENST00000287394.5	-	1	258	c.151delG	c.(151-153)cgfs	p.A51fs	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTGTGGTCGCCGCGGGTTTC	0.746													15	6	---	---	---	---					
CDC37L1	55664	broad.mit.edu	37	9	4706108	4706109	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:4706108_4706109delTA	ENST00000381854.3	+	7	1212_1213	c.1010_1011delTA	c.(1009-1011)gfs	p.V337fs		NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	337	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATGGACACTGTATAATTTGGTT	0.376													67	17	---	---	---	---					
SFTPA2	729238	broad.mit.edu	37	10	81319205	81319205	+	Frame_Shift_Del	DEL	A	A	-	rs72659394		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:81319205delA	ENST00000372325.2	-	3	119	c.35delT	c.(34-36)tgfs	p.L12fs	SFTPA2_ENST00000372327.5_Frame_Shift_Del_p.L12fs	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	12			L -> W.		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGCTGCCATCAAGATGAGGGT	0.647									Pulmonary Fibrosis, Idiopathic				16	35	---	---	---	---					
SFTPA1	653509	broad.mit.edu	37	10	81371615	81371615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:81371615delT	ENST00000398636.3	+	3	172	c.34delT	c.(34-36)tgfs	p.L12fs	SFTPA1_ENST00000372308.3_Frame_Shift_Del_p.L12fs|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000419470.2_Frame_Shift_Del_p.L27fs|SFTPA1_ENST00000428376.2_Frame_Shift_Del_p.L12fs	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	12					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAACCTCATCTTGATGGCAGC	0.632													23	212	---	---	---	---					
BSX	390259	broad.mit.edu	37	11	122850161	122850161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:122850161delC	ENST00000343035.2	-	2	315	c.267delG	c.(265-267)atfs	p.M89fs		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	89										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTGGGACTGGCATCCCTGCAG	0.682													36	18	---	---	---	---					
HOXC4	3221	broad.mit.edu	37	12	54448073	54448073	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:54448073delG	ENST00000430889.2	+	1	413	c.367delG	c.(367-369)acfs	p.D123fs	HOXC4_ENST00000303406.4_Frame_Shift_Del_p.D123fs	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCCAGCCCCCGACCATCCCTC	0.642													13	3	---	---	---	---					
DCLK1	9201	broad.mit.edu	37	13	36385037	36385037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:36385037delG	ENST00000255448.4	-	12	1834	c.1623delC	c.(1621-1623)gafs	p.D541fs	DCLK1_ENST00000379893.1_Frame_Shift_Del_p.D234fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.D541fs	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	541	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACAGGGGGCCGTCTACAATGG	0.463													42	107	---	---	---	---					
LCP1	3936	broad.mit.edu	37	13	46726995	46726995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:46726995delT	ENST00000398576.2	-	10	1047	c.659delA	c.(658-660)agfs	p.K220fs	LCP1_ENST00000323076.2_Frame_Shift_Del_p.K220fs			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	220	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CAGATAAGGCTTCCCCTCCTT	0.502			T	BCL6	NHL								9	32	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	33015489	33015489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:33015489delC	ENST00000280979.4	+	4	1800	c.1630delC	c.(1630-1632)cafs	p.P544fs	AKAP6_ENST00000557354.1_Frame_Shift_Del_p.P544fs|AKAP6_ENST00000557272.1_Frame_Shift_Del_p.P544fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	544					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATAGAGGGGCCACAAACAAA	0.453													87	15	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													4	3	---	---	---	---					
CHEK2P2	646096	broad.mit.edu	37	15	20490524	20490524	+	RNA	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:20490524delT	ENST00000555186.1	+	0	504					NR_038836.1																						TGTCAAGAAGTTGTTGGTAGT	0.428													40	345	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25476250	25476251	+	RNA	INS	-	-	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:25476250_25476251insT	ENST00000453082.2	+	0	1523					NR_003343.1																						GCTTCTGTTCCTTGGGGGCAGG	0.609													5	2	---	---	---	---					
ARRDC4	91947	broad.mit.edu	37	15	98509171	98509172	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:98509171_98509172delTG	ENST00000268042.6	+	3	585_586	c.421_422delTG	c.(421-423)tfs	p.C141fs	ARRDC4_ENST00000538249.1_Frame_Shift_Del_p.C54fs	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	141					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATTCAGTACTGTGTGCGGGCA	0.431													25	58	---	---	---	---					
OTOA	146183	broad.mit.edu	37	16	21698946	21698947	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:21698946_21698947delGC	ENST00000388958.3	+	7	613_614	c.612_613delGC	c.(610-615)ctgcfs	p.LR204fs	OTOA_ENST00000286149.4_Frame_Shift_Del_p.LR204fs|OTOA_ENST00000388956.4_Frame_Shift_Del_p.LR125fs	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	204					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.R205G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGGGACCTGCGCGAGGATGC	0.540													11	24	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													2	4	---	---	---	---					
ZBTB14	7541	broad.mit.edu	37	18	5290892	5290892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:5290892delC	ENST00000357006.4	-	4	1653	c.1315delG	c.(1315-1317)cafs	p.A439fs	ZBTB14_ENST00000400143.3_Frame_Shift_Del_p.A439fs	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		TGCTGTTCTGCTTCCGCAGCC	0.547													18	82	---	---	---	---					
ZNF280B	140883	broad.mit.edu	37	22	22843330	22843330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:22843330delG	ENST00000360412.2	-	4	1169	c.394delC	c.(394-396)aafs	p.Q132fs	ZNF280B_ENST00000406426.1_Frame_Shift_Del_p.Q132fs	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCACAACTTGTGGTGAACTA	0.388													39	131	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47038768	47038768	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:47038768delC	ENST00000377604.3	+	9	1517	c.775delC	c.(775-777)cafs	p.P259fs	RBM10_ENST00000345781.6_Frame_Shift_Del_p.P182fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Del_p.P182fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	259					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGACACTGCCACTGGGTGG	0.677													7	3	---	---	---	---					
