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
ASTN1	460	broad.mit.edu	37	1	176857323	176857323	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:176857323G>T	ENST00000367654.2	-	18	2995	c.2982C>A	c.(2980-2982)acC>acA	p.T994T	ASTN1_ENST00000361833.2_Silent_p.T986T|ASTN1_ENST00000424564.2_Silent_p.T986T|ASTN1_ENST00000367657.3_Silent_p.T986T			O14525	ASTN1_HUMAN	astrotactin 1	994					cell migration|neuron cell-cell adhesion	integral to membrane		p.T986T(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGAGCTCATGGTAGCCTCCT	0.537000													27	69					2.49675e-24	3.98417e-24	0.007291	1	0
HTR5A	3361	broad.mit.edu	37	7	154875952	154875952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:154875952G>A	ENST00000287907.2	+	2	1405	c.829G>A	c.(829-831)Gag>Aag	p.E277K	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	277						integral to plasma membrane	serotonin receptor activity	p.E277K(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CACGTGGCGGGAGCAGAAGGA	0.607000													43	55					0	0	0.014410	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221181	140221181	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:140221181G>A	ENST00000531613.1	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1												p.R92H(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGCGAGGAGCTG	0.602000													115	373					0	0	0.014410	0	0
STAP2	55620	broad.mit.edu	37	19	4327149	4327149	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:4327149C>A	ENST00000600324.1	-	8	802	c.735G>T	c.(733-735)ctG>ctT	p.L245L	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Silent_p.L245L	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	245	SH2.					cytoplasm|nucleus	protein binding	p.L245L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCTAACAGGAATGGCA	0.647000													26	86					9.04412e-07	1.03559e-06	0.004656	1	0
GLYATL1	92292	broad.mit.edu	37	11	58711127	58711127	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:58711127C>A	ENST00000300079.5	+	2	186	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity	p.L46M(2)|p.L46L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ctcagagtggctgaggataat	0.488000													18	28					2.4624e-09	3.00292e-09	0.008871	1	0
LILRB1	10859	broad.mit.edu	37	19	55144063	55144063	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:55144063C>T	ENST00000396331.1	+	7	1167	c.810C>T	c.(808-810)ggC>ggT	p.G270G	LILRB1_ENST00000396315.1_Silent_p.G270G|LILRB1_ENST00000324602.7_Silent_p.G270G|LILRB1_ENST00000396317.1_Silent_p.G270G|LILRB1_ENST00000448689.1_Silent_p.G270G|LILRB1_ENST00000396327.3_Silent_p.G270G|LILRB1_ENST00000427581.2_Silent_p.G306G|LILRB1_ENST00000434867.2_Silent_p.G270G|LILRB1_ENST00000418536.2_Silent_p.G270G|LILRB1_ENST00000396321.2_Silent_p.G270G|LILRB1_ENST00000396332.4_Silent_p.G270G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	270	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.G270G(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGCTGGCGCACAGCCCC	0.607000										HNSCC(37;0.09)			87	167					0	0	0.014410	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123489404	123489404	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:123489404G>T	ENST00000529750.1	+	18	2232	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	GRAMD1B_ENST00000456860.2_Silent_p.L642L|GRAMD1B_ENST00000450171.2_Silent_p.L322L|GRAMD1B_ENST00000322282.7_Silent_p.L635L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	635						integral to membrane		p.L635L(4)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCCTAGTCTGGTGCTGCTGG	0.547000													3	1					0.004672	0.00486667	0.004672	1	0
RARS	5917	broad.mit.edu	37	5	167933091	167933091	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:167933091A>G	ENST00000231572.3	+	10	1177	c.1123A>G	c.(1123-1125)Ata>Gta	p.I375V	RARS_ENST00000538719.1_Missense_Mutation_p.I169V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	375					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	p.I375V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACCATTAACCATAGTAAAATC	0.358000													44	113					0	0	0.013114	0	0
TMEM63B	55362	broad.mit.edu	37	6	44119729	44119729	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:44119729G>T	ENST00000259746.9	+	19	2003	c.1820G>T	c.(1819-1821)aGg>aTg	p.R607M	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R607M			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	607						integral to membrane	nucleotide binding|protein binding	p.R607M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCGCCGAGAGGCGCAACGTG	0.672000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	14					1.39806e-14	1.95989e-14	0.008361	1	0
LRGUK	136332	broad.mit.edu	37	7	133812255	133812255	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:133812255C>T	ENST00000285928.2	+	1	204	c.135C>T	c.(133-135)ccC>ccT	p.P45P	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	45							ATP binding|kinase activity	p.P45P(2)		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						GGTCTTTTCCCATGGGGCAGA	0.577000													78	167					0	0	0.014410	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256557	140256557	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:140256557C>A	ENST00000398631.2	+	1	1500	c.1500C>A	c.(1498-1500)ggC>ggA	p.G500G	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.G500G(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGGTGGGCGAGCACGCAC	0.677000													57	97					5.86059e-21	8.97029e-21	0.014410	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952372	33952372	+	RNA	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:33952372G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA														p.I157I(1)									TGGGGAAGCGGATGGGCAGCA	0.632000													14	27					0	0	0.016723	0	0
CCDC116	164592	broad.mit.edu	37	22	21991045	21991045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:21991045C>T	ENST00000292779.3	+	5	1689	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	510								p.Q510*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AAGGGCCCGGCAGGCCTCCCG	0.642000													91	149					0	0	0.014410	0	0
EPHA6	285220	broad.mit.edu	37	3	96963011	96963011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:96963011G>T	ENST00000389672.5	+	5	1524	c.1486G>T	c.(1486-1488)Gta>Tta	p.V496L	EPHA6_ENST00000470610.2_Missense_Mutation_p.V496L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	401	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V402L(4)|p.V496L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCCGTGATAGTACTTGACTT	0.443000													14	29					0.000151284	0.000162091	0.016723	1	0
TECTA	7007	broad.mit.edu	37	11	120989078	120989078	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:120989078G>T	ENST00000392793.1	+	7	1125	c.854G>T	c.(853-855)tGt>tTt	p.C285F	TECTA_ENST00000264037.2_Missense_Mutation_p.C285F			O75443	TECTA_HUMAN	tectorin alpha	285	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.C285F(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGTGCCGCTGTCTGGATTTC	0.512000													54	78					3.21867e-24	5.08212e-24	0.014410	1	0
HSD11B1	3290	broad.mit.edu	37	1	209878375	209878375	+	Splice_Site	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:209878375G>T	ENST00000367028.2	+	2	257	c.88_splice	c.e2+1	p.E30_splice	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Splice_Site_p.E30_splice|HSD11B1_ENST00000261465.1_Splice_Site_p.E30_splice	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	30					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATTCAGACCAGGTAAGTACCC	0.448000													28	79					1.88708e-17	2.77512e-17	0.008361	1	0
SH2B1	25970	broad.mit.edu	37	16	28877650	28877650	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:28877650G>A	ENST00000337120.5	+	1	3526	c.235G>A	c.(235-237)Gag>Aag	p.E79K	SH2B1_ENST00000322610.8_Missense_Mutation_p.E79K|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.E79K|SH2B1_ENST00000359285.5_Missense_Mutation_p.E79K|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	79	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for self-association.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.E79K(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTTTGAAGCCGAGGTGGCCCG	0.667000													5	49					0	0	0.001984	0	0
TMTC2	160335	broad.mit.edu	37	12	83251161	83251161	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:83251161G>T	ENST00000549919.1	+	3	2243	c.438G>T	c.(436-438)ttG>ttT	p.L146F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L152F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L152F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	152						endoplasmic reticulum|integral to membrane	binding	p.L152F(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCTCTCCTTGCTCTGCTACA	0.557000													21	46					4.7796e-09	5.78178e-09	0.004656	1	0
C8orf47	203111	broad.mit.edu	37	8	99102146	99102146	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:99102146C>T	ENST00000318528.3	+	2	1260	c.901C>T	c.(901-903)Cct>Tct	p.P301S	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	301	Glu-rich.							p.P301S(2)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCAGATTCAACCTGAAGGAAT	0.438000													47	87					0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10467287	10467287	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:10467287G>T	ENST00000382483.3	-	4	4544	c.4321C>A	c.(4321-4323)Ccg>Acg	p.P1441T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1441					intracellular signal transduction			p.P1441T(2)		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)		GCGGGGCACGGCTCTGCAGAG	0.627000													250	481					5.97512e-100	1.07984e-99	0.014410	1	0
USH2A	7399	broad.mit.edu	37	1	216074227	216074227	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:216074227G>A	ENST00000366943.2	-	39	7707	c.7321C>T	c.(7321-7323)Ccc>Tcc	p.P2441S	USH2A_ENST00000307340.3_Missense_Mutation_p.P2441S|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2441	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2441S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAAGCCTGGGAGGCAGCACG	0.493000										HNSCC(13;0.011)			19	38					0	0	0.006122	0	0
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622000													10	49					0	0	0.013537	0	0
PEX5L	51555	broad.mit.edu	37	3	179519752	179519752	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:179519752G>C	ENST00000467460.1	-	15	2075	c.1745C>G	c.(1744-1746)cCt>cGt	p.P582R	PEX5L_ENST00000485199.1_Missense_Mutation_p.P547R|PEX5L_ENST00000476138.1_Missense_Mutation_p.P539R|PEX5L_ENST00000472994.1_Missense_Mutation_p.P523R|PEX5L_ENST00000468741.1_Missense_Mutation_p.P390R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.P580R|PEX5L_ENST00000465751.1_Missense_Mutation_p.P558R|PEX5L_ENST00000464614.1_Missense_Mutation_p.P474R|PEX5L_ENST00000392649.3_Missense_Mutation_p.P474R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	582					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	p.P582R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCAGGATGAGGAACTTGCTG	0.463000													76	189					0	0	0.014410	0	0
UBE3D	90025	broad.mit.edu	37	6	83775392	83775392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:83775392C>A	ENST00000369747.3	-	1	168	c.46G>T	c.(46-48)Gga>Tga	p.G16*	UBE3D_ENST00000369745.5_Nonsense_Mutation_p.G16*	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	16						cytoplasm	ligase activity	p.G16*(1)									TGCAGCTGTCCCCGCACCTCC	0.672000											OREG0017550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					7.93312e-07	9.1536e-07	0.020292	1	0
PAF1	54623	broad.mit.edu	37	19	39879075	39879075	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:39879075C>A	ENST00000221265.3	-	11	1220	c.890G>T	c.(889-891)tGg>tTg	p.W297L	PAF1_ENST00000595564.1_Missense_Mutation_p.W287L|PAF1_ENST00000221266.7_Missense_Mutation_p.W264L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	297					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.W297L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTCACGTTCCAGTTGTACTC	0.478000													87	196					4.3955e-51	7.57845e-51	0.014410	1	0
SNTG1	54212	broad.mit.edu	37	8	51617264	51617264	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:51617264G>T	ENST00000522124.1	+	16	1804	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C	SNTG1_ENST00000518864.1_Missense_Mutation_p.W381C|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381C|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.W381F(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCGCCCAGTGGGAAAGAGCCT	0.557000													17	54					4.14922e-12	5.41202e-12	0.004007	1	0
EMR3	84658	broad.mit.edu	37	19	14758015	14758015	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:14758015G>A	ENST00000253673.5	-	8	960	c.860C>T	c.(859-861)aCg>aTg	p.T287M	EMR3_ENST00000443157.2_Missense_Mutation_p.T161M|EMR3_ENST00000344373.4_Missense_Mutation_p.T235M|EMR3_ENST00000599900.1_Missense_Mutation_p.T72M	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	287					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAAAGTCAGCGTCACAGACTT	0.483000													16	479					0	0	0.004007	0	0
LPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:99772407C>A	ENST00000370185.3	+	7	2630	c.2133C>A	c.(2131-2133)agC>agA	p.S711R	LPPR4_ENST00000457765.1_Missense_Mutation_p.S653R|LPPR4_ENST00000370184.1_Missense_Mutation_p.S553R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711							phosphatidate phosphatase activity	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522000													16	38					6.72482e-11	8.69589e-11	0.003163	1	0
HOXA11	3207	broad.mit.edu	37	7	27222458	27222458	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:27222458T>A	ENST00000006015.3	-	2	970	c.899A>T	c.(898-900)aAc>aTc	p.N300I		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	300					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N300L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						ACGGTCTCTGTTAATTTTTTT	0.448000			T	NUP98	CML								51	167					0	0	0.014410	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759333	121759333	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:121759333C>A	ENST00000261367.7	+	6	2470	c.1042C>A	c.(1042-1044)Cta>Ata	p.L348I	SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L301I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L301I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	301					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.L348I(4)|p.L301I(2)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGTCAGTGGCCTAAACCGGAC	0.483000													43	89					1.00953e-15	1.47019e-15	0.013114	1	0
DLGAP3	58512	broad.mit.edu	37	1	35369906	35369906	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:35369906G>A	ENST00000373347.1	-	3	1347	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	DLGAP3_ENST00000235180.4_Missense_Mutation_p.A360V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	360					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.A360V(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)				CCTGGCTTTGGCCTTGGTCTC	0.592000													71	154					0	0	0.014410	0	0
CTNND1	1500	broad.mit.edu	37	11	57569381	57569381	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:57569381G>T	ENST00000524630.1	+	7	1646	c.1133G>T	c.(1132-1134)cGc>cTc	p.R378L	CTNND1_ENST00000527467.1_Missense_Mutation_p.R55L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R378L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R324L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R277L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R378L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R324L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R378L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R277L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R55L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R55L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R378L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R277L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R277L|CTNND1_ENST00000399050.4_Missense_Mutation_p.R378L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R277L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R55L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R324L|CTNND1_ENST00000361332.4_Missense_Mutation_p.R378L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R324L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R378L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R378L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R378L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R277L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R55L|CTNND1_ENST00000361796.4_Missense_Mutation_p.R378L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	378					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.R378L(4)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTGGATTCCGCTTGGATGCT	0.542000													40	121					2.35958e-20	3.57513e-20	0.009718	1	0
TRPM8	79054	broad.mit.edu	37	2	234835266	234835266	+	Silent	SNP	G	G	A	rs149381224		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:234835266G>A	ENST00000324695.4	+	2	124	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	28						integral to membrane		p.A28A(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACTCCAGCGCGTCTCGGAGCA	0.512000													29	63					0	0	0.005443	0	0
PRR5	55615	broad.mit.edu	37	22	45075718	45075718	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:45075718C>T	ENST00000403581.1	+	2	648	c.39C>T	c.(37-39)ggC>ggT	p.G13G		NM_001198721.1	NP_001185650.1			proline rich 5 (renal)									p.G13G(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AAGCCTGGGGCTCGGGAAGCC	0.612000													10	14					0	0	0.013537	0	0
SETBP1	26040	broad.mit.edu	37	18	42532619	42532619	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:42532619G>T	ENST00000282030.5	+	4	3610	c.3314G>T	c.(3313-3315)gGt>gTt	p.G1105V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1105						nucleus	DNA binding	p.G1105V(2)|p.G1051V(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGATGTCCGGTGCAGCTAAG	0.547000									Schinzel-Giedion syndrome				59	138					7.50695e-29	1.23741e-28	0.014410	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782618	115782618	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:115782618G>T	ENST00000343348.6	-	19	3571	c.2784C>A	c.(2782-2784)agC>agA	p.S928R	SEMA6A_ENST00000513137.1_Missense_Mutation_p.S355R|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S928R|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S945R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S307R|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S405R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	928					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.S928R(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGCCTGGTGGCTTCTCGTGA	0.557000													36	73					1.59361e-14	2.21335e-14	0.006999	1	0
OR1F2P	26184	broad.mit.edu	37	16	3266457	3266457	+	RNA	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:3266457G>A	ENST00000576468.1	+	0	418																											GGTGACTCCCGTGATGAATCC	0.433000													5	18					0	0	0.003080	0	0
RPTN	126638	broad.mit.edu	37	1	152128367	152128367	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:152128367T>A	ENST00000316073.3	-	3	1272	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	403	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.Y403F(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGACCATAGTGAGAACT	0.507000													428	914					0	0	0.014410	0	0
MFRP	83552	broad.mit.edu	37	11	119217000	119217000	+	Missense_Mutation	SNP	C	C	T	rs143802236	byFrequency	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:119217000C>T	ENST00000555262.1	-	2	298	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	MFRP_ENST00000449574.2_Missense_Mutation_p.V47I|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.V47I|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000530681.1_Missense_Mutation_p.V47I	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein									p.V47I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGAGCTGGGACGCTGTAGCTG	0.617000													12	34					0	0	0.013537	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193285	132193285	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:132193285C>A	ENST00000359827.3	-	2	1130	c.168G>T	c.(166-168)gtG>gtT	p.V56V	PLXNA4_ENST00000321063.4_Silent_p.V56V|PLXNA4_ENST00000378539.5_Silent_p.V56V|PLXNA4_ENST00000423507.2_Silent_p.V56V			Q9HCM2	PLXA4_HUMAN	plexin A4	56	Sema.					integral to membrane|intracellular|plasma membrane		p.V56V(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCTCTCATCCACCACCAGGT	0.592000													39	91					1.47197e-15	2.12303e-15	0.007835	1	0
TRIM22	10346	broad.mit.edu	37	11	5730700	5730700	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:5730700C>T	ENST00000379965.3	+	8	1596	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	440	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P440L(2)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGTGCCTCCCTGTCGTATT	0.438000													67	137					0	0	0.014410	0	0
SNTG1	54212	broad.mit.edu	37	8	51617263	51617263	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:51617263G>T	ENST00000522124.1	+	16	1803	c.1142G>T	c.(1141-1143)tGg>tTg	p.W381L	SNTG1_ENST00000518864.1_Missense_Mutation_p.W381L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.W381F(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCGCCCAGTGGGAAAGAGCC	0.552000													17	55					4.14922e-12	5.41202e-12	0.004007	1	0
DNHD1	144132	broad.mit.edu	37	11	6588836	6588836	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:6588836G>A	ENST00000254579.6	+	36	12661	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	DNHD1_ENST00000527990.2_Missense_Mutation_p.E4033K	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4033					microtubule-based movement	dynein complex	microtubule motor activity	p.E4033K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCAGGGCCTGAGCCACTCAG	0.642000													19	34					0	0	0.008871	0	0
C1orf173	127254	broad.mit.edu	37	1	75038095	75038095	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:75038095G>T	ENST00000326665.5	-	14	3517	c.3299C>A	c.(3298-3300)gCg>gAg	p.A1100E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1100	Glu-rich.							p.A1100E(2)		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						CCCTTCTTCCGCTTTAAGTTT	0.443000													62	153					1.44317e-28	2.35299e-28	0.014410	1	0
THSD4	79875	broad.mit.edu	37	15	72037537	72037537	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:72037537G>A	ENST00000355327.3	+	12	2133	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	THSD4_ENST00000357769.4_Missense_Mutation_p.E307K|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E667K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	667						proteinaceous extracellular matrix	metalloendopeptidase activity	p.E667K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCGACCCCCGAGGAGGAGCC	0.547000													187	399					0	0	0.014410	0	0
ZNF287	57336	broad.mit.edu	37	17	16470691	16470691	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr17:16470691C>T	ENST00000395824.1	-	2	972	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	ZNF287_ENST00000395825.3_Missense_Mutation_p.E119K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	112	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E112K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTCACTGCTTCCTCGCTGCTC	0.507000													48	44					0	0	0.014410	0	0
SPATA13	221178	broad.mit.edu	37	13	24860373	24860373	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr13:24860373G>T	ENST00000424834.2	+	8	2796	c.2323G>T	c.(2323-2325)Gtc>Ttc	p.V775F	SPATA13_ENST00000409126.1_Missense_Mutation_p.V72F|SPATA13_ENST00000382095.4_Missense_Mutation_p.V150F|SPATA13_ENST00000399949.2_Missense_Mutation_p.V72F|SPATA13_ENST00000382108.3_Missense_Mutation_p.V775F|SPATA13_ENST00000343003.6_Missense_Mutation_p.V94F			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	150					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	p.V150F(2)|p.V775F(2)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCAACGTGGTCTGCGCAGA	0.582000													173	263					1.06226e-90	1.8969e-90	0.014410	1	0
KLRC2	3822	broad.mit.edu	37	12	10584778	10584778	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:10584778A>G	ENST00000381902.2	-	5	517	c.511T>C	c.(511-513)Tca>Cca	p.S171P	KLRC2_ENST00000536833.2_Missense_Mutation_p.S112P|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.S171P	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	171	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.S171P(2)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CCAATCCATGAGGAAGGTAAA	0.299000													12	26					0	0	0.016723	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789113	15789113	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:15789113T>A	ENST00000550308.1	+	3	621	c.241T>A	c.(241-243)Tcg>Acg	p.S81T	CYP4F12_ENST00000324632.9_Missense_Mutation_p.S81T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.S81T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GACCCAGATGTCGGCCACCTA	0.512000													66	194					0	0	0.014410	0	0
ADCY8	114	broad.mit.edu	37	8	131792870	131792870	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:131792870G>A	ENST00000286355.5	-	18	5614	c.3522C>T	c.(3520-3522)gtC>gtT	p.V1174V	ADCY8_ENST00000377928.3_Silent_p.V1043V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1174					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V1174V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTTGGGTTGGACTCTTCCCA	0.522000										HNSCC(32;0.087)			59	125					0	0	0.014410	0	0
CACNA1C	775	broad.mit.edu	37	12	2797654	2797654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:2797654C>A	ENST00000399655.1	+	46	6091	c.5826C>A	c.(5824-5826)agC>agA	p.S1942R	CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1977R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1970R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1977R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1983R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1962R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1990R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1948R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1959R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1942R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1967R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1942R	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	2025					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.S1477R(2)|p.S2055R(2)|p.S1990R(2)|p.S1983R(2)|p.S1977R(2)		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)	TCCAGAGAAGCCATTCCCCTG	0.652000													41	86					1.49673e-21	2.33865e-21	0.006230	1	0
WIPF1	7456	broad.mit.edu	37	2	175437101	175437101	+	Silent	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:175437101T>A	ENST00000392547.2	-	5	531	c.432A>T	c.(430-432)ccA>ccT	p.P144P	WIPF1_ENST00000392546.2_Silent_p.P144P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P144P|WIPF1_ENST00000359761.3_Silent_p.P144P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P144P|WIPF1_ENST00000409891.1_Silent_p.P144P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	144					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.P144P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGGCCACTTGGGGGTGAAA	0.582000													44	111					0	0	0.010771	0	0
OR51A4	401666	broad.mit.edu	37	11	4967760	4967760	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:4967760A>T	ENST00000380373.2	-	1	596	c.571T>A	c.(571-573)Tgt>Agt	p.C191S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C191S(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCAGAACAGGCCAACTTC	0.408000													14	51					0	0	0.008871	0	0
HSD11B1	3290	broad.mit.edu	37	1	209878376	209878376	+	Splice_Site	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:209878376G>T	ENST00000367028.2	+	2	257		c.e2+1		RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Splice_Site|HSD11B1_ENST00000261465.1_Splice_Site	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TTCAGACCAGGTAAGTACCCA	0.453000													28	79					1.88708e-17	2.77512e-17	0.008361	1	0
NAV3	89795	broad.mit.edu	37	12	78542638	78542638	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:78542638G>T	ENST00000397909.2	+	22	4897	c.4724G>T	c.(4723-4725)cGg>cTg	p.R1575L	NAV3_ENST00000536525.2_Missense_Mutation_p.R1575L|NAV3_ENST00000266692.7_Missense_Mutation_p.R1398L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1575L(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAAACTGCGGAGAGAGCTG	0.333000										HNSCC(70;0.22)			4	11					0.00116845	0.00123427	0.001168	1	0
MYO7B	4648	broad.mit.edu	37	2	128391816	128391816	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:128391816G>A	ENST00000389524.4	+	40	5555	c.5502G>A	c.(5500-5502)caG>caA	p.Q1834Q	MYO7B_ENST00000409816.2_Silent_p.Q1833Q|MYO7B_ENST00000409090.1_Silent_p.Q686Q|MYO7B_ENST00000428314.1_Silent_p.Q1833Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1833	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q2077Q(1)|p.Q1833Q(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCTGCAGCTGGCCTCCT	0.662000													7	12					0	0	0.003080	0	0
GLUD2	2747	broad.mit.edu	37	X	120182373	120182373	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:120182373G>T	ENST00000328078.1	+	1	912	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	279					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G279L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTCTTCCATGGGATTGAAAA	0.433000													69	67					3.94839e-29	6.58065e-29	0.014410	1	0
PTPRM	5797	broad.mit.edu	37	18	7926632	7926632	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:7926632A>G	ENST00000332175.8	+	5	1651	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	PTPRM_ENST00000580170.1_Missense_Mutation_p.Q205R|PTPRM_ENST00000400053.4_Missense_Mutation_p.Q143R|PTPRM_ENST00000400060.4_Missense_Mutation_p.Q205R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	205	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q205R(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTACCTTCCAGTGCAGTGCC	0.463000													36	75					0	0	0.014410	0	0
VCAN	1462	broad.mit.edu	37	5	82815769	82815769	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:82815769T>C	ENST00000265077.3	+	7	2209	c.1644T>C	c.(1642-1644)taT>taC	p.Y548Y	VCAN_ENST00000512590.2_Silent_p.Y500Y|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.Y548Y|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	548	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.Y548Y(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGGTCACTATGGATTCACCT	0.408000													36	76					0	0	0.017118	0	0
RELN	5649	broad.mit.edu	37	7	103162494	103162494	+	Missense_Mutation	SNP	G	G	A	rs139106600		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:103162494G>A	ENST00000424685.2	-	48	7802	c.7643C>T	c.(7642-7644)tCg>tTg	p.S2548L	RELN_ENST00000343529.5_Missense_Mutation_p.S2548L|RELN_ENST00000428762.1_Missense_Mutation_p.S2548L			P78509	RELN_HUMAN	reelin	2548					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.S2548L(2)		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)		AGCCATTCCCGACGCCACGGC	0.488000													56	129					0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41496170	41496170	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATGATGCCGTTCAGCTTGA	0.572000													12	334					0	0	0.010729	0	0
GLG1	2734	broad.mit.edu	37	16	74526922	74526922	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:74526922G>A	ENST00000422840.2	-	7	1166	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	GLG1_ENST00000447066.2_Silent_p.N378N|GLG1_ENST00000205061.5_Silent_p.N389N	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	389						Golgi membrane|integral to membrane	receptor binding	p.N389N(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATCGCGGAAGGTTTTCCACAT	0.418000													13	144					0	0	0.020292	0	0
ANKRD42	338699	broad.mit.edu	37	11	82917155	82917155	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:82917155G>T	ENST00000393389.3	+	3	1210	c.278G>T	c.(277-279)gGt>gTt	p.G93V	ANKRD42_ENST00000393392.2_Missense_Mutation_p.G65V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G93V|ANKRD42_ENST00000528722.1_5'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	65								p.G65V(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAACGAGAGGTTGGACAGCA	0.378000													22	54					2.98393e-07	3.49679e-07	0.016522	1	0
KIAA1467	57613	broad.mit.edu	37	12	13229033	13229033	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:13229033T>A	ENST00000197268.8	+	11	1718	c.1598T>A	c.(1597-1599)cTt>cAt	p.L533H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	533						integral to membrane		p.L533H(2)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCTCCATCCTTCTGGATCTG	0.552000													58	96					0	0	0.014410	0	0
IGSF8	93185	broad.mit.edu	37	1	160061677	160061677	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:160061677A>T	ENST00000368086.1	-	6	1994	c.1778T>A	c.(1777-1779)gTc>gAc	p.V593D	IGSF8_ENST00000314485.7_Missense_Mutation_p.V593D			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	593					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.V593D(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCACCAGTGACTAGGGCCAC	0.567000													59	135					0	0	0.014410	0	0
HOXA11	3207	broad.mit.edu	37	7	27222459	27222459	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:27222459T>G	ENST00000006015.3	-	2	969	c.898A>C	c.(898-900)Aac>Cac	p.N300H		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	300					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N300L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGGTCTCTGTTAATTTTTTTT	0.448000			T	NUP98	CML								50	167					0	0	0.014410	0	0
COL12A1	1303	broad.mit.edu	37	6	75841736	75841736	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr6:75841736G>A	ENST00000322507.8	-	35	6166	c.5857C>T	c.(5857-5859)Cgc>Tgc	p.R1953C	COL12A1_ENST00000345356.6_Missense_Mutation_p.R789C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1953C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1953C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1953	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R1953C(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGTCCCAGCGAACATCGAGG	0.458000													14	56					0	0	0.020292	0	0
ZBTB16	7704	broad.mit.edu	37	11	114113048	114113048	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:114113048G>T	ENST00000335953.4	+	5	1993	c.1613G>T	c.(1612-1614)cGc>cTc	p.R538L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R538L|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	538					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.R538L(2)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCCACCTGCGCTCACATACA	0.602000													15	53					1.9806e-07	2.33929e-07	0.014323	1	0
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	G	A	rs145163836		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:39218644G>A	ENST00000333039.2	-	5	1596	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	491	Pentaxin.					integral to membrane	metal ion binding	p.F491F(2)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622000													20	49					0	0	0.008871	0	0
FCF1	51077	broad.mit.edu	37	14	75182766	75182766	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr14:75182766T>G	ENST00000341162.4	+	4	310	c.256T>G	c.(256-258)Tta>Gta	p.L86V	FCF1_ENST00000534938.2_Missense_Mutation_p.L74V|FCF1_ENST00000553615.1_Missense_Mutation_p.L71V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	86	PINc.				rRNA processing	nucleolus		p.L86V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CAAACTGGACTTAGTGCAGTC	0.358000													108	62					0	0	0.014410	0	0
MTHFSD	64779	broad.mit.edu	37	16	86565744	86565744	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:86565744C>T	ENST00000322911.6	-	8	1072	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	MTHFSD_ENST00000381214.5_Missense_Mutation_p.R342Q|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R341Q|MTHFSD_ENST00000546093.1_Missense_Mutation_p.R179Q|MTHFSD_ENST00000360900.6_Missense_Mutation_p.R342Q	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	342	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	p.R342Q(1)|p.R341Q(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GGCTCTGCGCCGCGGGCCCTG	0.711000													7	17					0	0	0.004482	0	0
LTBP1	4052	broad.mit.edu	37	2	33572578	33572578	+	Splice_Site	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:33572578G>A	ENST00000404816.2	+	26	4353		c.e26+1		LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTCCACAGGTAAGTCCCAG	0.547000													86	158					0	0	0.014410	0	0
POFUT2	23275	broad.mit.edu	37	21	46697007	46697007	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr21:46697007C>A	ENST00000331343.7	-	6	782	c.756G>T	c.(754-756)gaG>gaT	p.E252D	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.E252D	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	252					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	p.E252D(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGCTCCTGAACTCGTCTCCCA	0.612000													80	204					7.74691e-53	1.35121e-52	0.014410	1	0
OR52J3	119679	broad.mit.edu	37	11	5068314	5068314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:5068314G>A	ENST00000380370.1	+	1	559	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A187T(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGGCATTGCAAAATTGTC	0.428000													17	56					0	0	0.004007	0	0
MOV10	4343	broad.mit.edu	37	1	113217566	113217566	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:113217566G>T	ENST00000413052.2	+	2	422	c.32G>T	c.(31-33)cGg>cTg	p.R11L	MOV10_ENST00000369645.1_Missense_Mutation_p.R11L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R11L|MOV10_ENST00000357443.2_Missense_Mutation_p.R11L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	11					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R11L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGGCAGCTCCGGGAGGCGGGC	0.632000													39	75					6.4685e-43	1.10258e-42	0.014410	1	0
KDR	3791	broad.mit.edu	37	4	55955043	55955043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr4:55955043C>T	ENST00000263923.4	-	26	3797	c.3502G>A	c.(3502-3504)Gct>Act	p.A1168T	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1168					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.A1168T(2)|p.A1168S(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)	ACCTGCTGAGCATTAGCTTGC	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			11	29					0	0	0.010729	0	0
MAGI1	9223	broad.mit.edu	37	3	65479199	65479199	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:65479199C>A	ENST00000330909.8	-	3	537	c.538G>T	c.(538-540)Ggc>Tgc	p.G180C	MAGI1_ENST00000402939.2_Missense_Mutation_p.G180C|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.G180C|MAGI1_ENST00000483466.1_Missense_Mutation_p.G180C	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	180	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.G180C(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATAGGTGCCGACTTCCAGA	0.498000													36	75					9.65963e-10	1.20745e-09	0.015359	1	0
TTC37	9652	broad.mit.edu	37	5	94818288	94818288	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:94818288T>C	ENST00000358746.2	-	39	4399	c.4101A>G	c.(4099-4101)agA>agG	p.R1367R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1367							binding	p.R1367R(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGAACTTGTCTCAAAAGTA	0.388000													21	20					0	0	0.012319	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551855	58551855	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:58551855G>T	ENST00000282326.1	+	4	655	c.408G>T	c.(406-408)tgG>tgT	p.W136C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	136					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W136C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGGACTGGAGTTTCGGTG	0.622000													160	343					5.10563e-82	9.00993e-82	0.014410	1	0
SPTA1	6708	broad.mit.edu	37	1	158627290	158627290	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:158627290C>T	ENST00000368148.3	-	19	2962	c.2782G>A	c.(2782-2784)Ggt>Agt	p.G928S	SPTA1_ENST00000368147.3_Missense_Mutation_p.G928S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	928					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.G928S(2)		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)					TCATCAGCACCATAGTTAGTA	0.438000													28	53					0	0	0.005443	0	0
ASXL3	80816	broad.mit.edu	37	18	31323885	31323885	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:31323885T>C	ENST00000269197.5	+	12	4073	c.4073T>C	c.(4072-4074)gTc>gCc	p.V1358A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.V1358A(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTAGCTCTGTCTTGATTCCC	0.473000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	143	319					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	2944626	2944626	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:2944626G>T	ENST00000602557.1	-	50	8025	c.7470C>A	c.(7468-7470)ctC>ctA	p.L2490L	CSMD1_ENST00000602723.1_Silent_p.L2490L|CSMD1_ENST00000400186.3_Silent_p.L2490L|CSMD1_ENST00000542608.1_Silent_p.L2489L|CSMD1_ENST00000537824.1_Silent_p.L2489L|CSMD1_ENST00000520002.1_Silent_p.L2490L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2490	Sushi 14.					integral to membrane		p.L2218L(2)|p.L2489L(2)		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)		TACCCTGGCAGAGTGGCGTGA	0.453000													19	22					1.01871e-10	1.30604e-10	0.008871	1	0
TAOK2	9344	broad.mit.edu	37	16	29996668	29996668	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:29996668G>T	ENST00000308893.4	+	14	2600	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	TAOK2_ENST00000543033.1_Missense_Mutation_p.E519D|TAOK2_ENST00000279394.3_Missense_Mutation_p.E519D|TAOK2_ENST00000416441.2_Missense_Mutation_p.E346D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672000													33	53					7.11191e-15	1.01599e-14	0.013726	1	0
ZNF43	7594	broad.mit.edu	37	19	21991491	21991491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:21991491C>A	ENST00000594012.1	-	7	1844	c.1330G>T	c.(1330-1332)Gga>Tga	p.G444*	ZNF43_ENST00000354959.4_Nonsense_Mutation_p.G450*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.G444*|ZNF43_ENST00000595461.1_Nonsense_Mutation_p.G444*	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G450L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGTTTCTCTCCAGTATGAATT	0.383000													20	36					5.26018e-13	7.04488e-13	0.012319	1	0
C16orf11	146325	broad.mit.edu	37	16	613967	613967	+	Missense_Mutation	SNP	C	C	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:613967C>G	ENST00000409413.3	+	2	952	c.673C>G	c.(673-675)Ccc>Gcc	p.P225A		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	225	Pro-rich.							p.P225A(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTACTTGGGGCCCTCACTGGC	0.731000													3	14					0	0	0.004672	0	0
GSDMB	55876	broad.mit.edu	37	17	38066035	38066035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr17:38066035G>A	ENST00000394175.2	-	3	773	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000394179.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q184*	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	184						cytoplasm		p.Q184*(4)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AGATGGCCCTGAGAGATCTGG	0.532000													63	143					0	0	0.014410	0	0
PTPRD	5789	broad.mit.edu	37	9	8528763	8528763	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr9:8528763C>A	ENST00000381196.4	-	12	912	c.369G>T	c.(367-369)agG>agT	p.R123S	PTPRD_ENST00000397606.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397611.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397617.3_Missense_Mutation_p.R123S|PTPRD_ENST00000463477.1_Missense_Mutation_p.R123S|PTPRD_ENST00000540109.1_Missense_Mutation_p.R123S|PTPRD_ENST00000360074.4_Missense_Mutation_p.R123S|PTPRD_ENST00000537002.1_Missense_Mutation_p.R123S|PTPRD_ENST00000358503.5_Missense_Mutation_p.R123S|PTPRD_ENST00000486161.1_Missense_Mutation_p.R123S|PTPRD_ENST00000356435.5_Missense_Mutation_p.R123S|PTPRD_ENST00000355233.5_Missense_Mutation_p.R123S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	123					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R123S(8)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGGAAGCCCCTGGGAATTT	0.468000										TSP Lung(15;0.13)			9	38					1.08611e-07	1.29299e-07	0.010729	1	0
GART	2618	broad.mit.edu	37	21	34883584	34883584	+	Silent	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr21:34883584A>G	ENST00000381831.3	-	17	2552	c.2289T>C	c.(2287-2289)atT>atC	p.I763I	GART_ENST00000381839.3_Silent_p.I763I|GART_ENST00000543717.1_Silent_p.I315I|GART_ENST00000381815.4_Silent_p.I763I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	763	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.I763I(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACACTGCCAATCACCCAGG	0.453000													137	336					0	0	0.014410	0	0
PPM1B	5495	broad.mit.edu	37	2	44429147	44429147	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr2:44429147A>G	ENST00000378551.2	+	2	1221	c.809A>G	c.(808-810)aAt>aGt	p.N270S	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.N270S|PPM1B_ENST00000409895.4_Missense_Mutation_p.N270S|PPM1B_ENST00000409432.3_Missense_Mutation_p.N270S	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	270					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.N270S(6)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCTGGAAAATGTGTGCAAT	0.353000													15	44					0	0	0.008871	0	0
IL13RA2	3598	broad.mit.edu	37	X	114242517	114242517	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:114242517C>A	ENST00000371936.1	-	9	1224	c.975G>T	c.(973-975)tgG>tgT	p.W325C	IL13RA2_ENST00000243213.1_Missense_Mutation_p.W325C			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	325	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.W325C(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTTTATCACTCCACTCACTCC	0.338000													16	16					9.16793e-09	1.10015e-08	0.004990	1	0
IQGAP2	10788	broad.mit.edu	37	5	75936794	75936794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:75936794G>T	ENST00000274364.6	+	17	2257	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	654					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.E654*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTACATTCGTGAGAATATATG	0.408000													15	59					2.32078e-09	2.85342e-09	0.003163	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	18					0.00448238	0.0047018	0.004482	1	0
INPPL1	3636	broad.mit.edu	37	11	71946219	71946219	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:71946219C>T	ENST00000298229.2	+	22	2679	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	INPPL1_ENST00000538751.1_Silent_p.V583V|INPPL1_ENST00000541756.1_Silent_p.V583V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	825					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.V825V(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCTCACAGTCAAGTCCATGG	0.557000													56	97					0	0	0.014410	0	0
LAT	27040	broad.mit.edu	37	16	28996766	28996766	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr16:28996766G>A	ENST00000395456.2	+	1	350	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Missense_Mutation_p.V10M|LAT_ENST00000566177.1_Missense_Mutation_p.V10M|LAT_ENST00000564277.1_Missense_Mutation_p.V10M|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.V10M|LAT_ENST00000395461.3_Missense_Mutation_p.V46M|LAT_ENST00000360872.5_Missense_Mutation_p.V10M	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	10					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	p.V10M(2)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				GGTCCCCTGCGTGCTGGGGCT	0.637000													39	94					0	0	0.007835	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958720	57958720	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:57958720G>A	ENST00000311591.3	+	1	815	c.758G>A	c.(757-759)gGc>gAc	p.G253D		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253D(2)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCTTTGGCACCCTCATC	0.577000													59	102					0	0	0.014410	0	0
SPAG17	200162	broad.mit.edu	37	1	118554977	118554977	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:118554977C>A	ENST00000336338.5	-	30	4371	c.4306G>T	c.(4306-4308)Gac>Tac	p.D1436Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1436						cilium|flagellar axoneme|microtubule		p.D1436Y(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAACTTTGTCTTCTCGAGTT	0.378000													23	57					6.44725e-10	8.12679e-10	0.014323	1	0
CDH20	28316	broad.mit.edu	37	18	59157904	59157904	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:59157904C>A	ENST00000262717.4	+	2	516	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	CDH20_ENST00000538374.1_Missense_Mutation_p.Q40K|CDH20_ENST00000536675.2_Missense_Mutation_p.Q40K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	40					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q40K(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCCAACACCACAAGGTGAATT	0.512000													13	110					0.00010058	0.000108539	0.013537	1	0
CYP4F3	4051	broad.mit.edu	37	19	15758117	15758117	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:15758117A>T	ENST00000221307.7	+	5	556	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	CYP4F3_ENST00000591058.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000586182.1_Missense_Mutation_p.S170C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	170					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.S170C(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTCAATGAGAGTGTGAACAT	0.502000													77	147					0	0	0.014410	0	0
GLUD2	2747	broad.mit.edu	37	X	120182374	120182374	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:120182374G>T	ENST00000328078.1	+	1	913	c.836G>T	c.(835-837)gGg>gTg	p.G279V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	279					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G279L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTCTTCCATGGGATTGAAAAC	0.433000													69	67					8.3131e-28	1.34082e-27	0.014410	1	0
FAM188B	84182	broad.mit.edu	37	7	30821598	30821598	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr7:30821598G>T	ENST00000265299.6	+	3	266	c.189G>T	c.(187-189)aaG>aaT	p.K63N	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	63								p.K63N(2)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATAGGCAAAGGAAAATCCTC	0.363000													20	46					2.37509e-13	3.23876e-13	0.010504	1	0
GEM	2669	broad.mit.edu	37	8	95272446	95272446	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:95272446C>A	ENST00000297596.2	-	2	550	c.286G>T	c.(286-288)Gca>Tca	p.A96S	GEM_ENST00000396194.2_Missense_Mutation_p.A96S	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	96					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.A96S(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCACACCTGCAAAGATGTTG	0.592000													67	147					1.23106e-19	1.84658e-19	0.014410	1	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600154	28600154	+	RNA	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:28600154T>A	ENST00000568624.1	-	0	342																											CTTCTGTTCCTATAGAAAGAG	0.557000													11	56					0	0	0.020292	0	0
KIF2B	84643	broad.mit.edu	37	17	51902309	51902309	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr17:51902309G>T	ENST00000268919.4	+	1	2071	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	639					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.A639S(2)		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						TTTTTGCATTGCCCGGTCTTT	0.448000													32	79					1.39806e-14	1.95989e-14	0.008361	1	0
ELL2	22936	broad.mit.edu	37	5	95224622	95224622	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr5:95224622T>C	ENST00000237853.4	-	12	2225	c.1876A>G	c.(1876-1878)Agg>Ggg	p.R626G	ELL2_ENST00000431061.2_Missense_Mutation_p.R376G	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	626					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.R626G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CCTATTAGCCTTTTGATGTGA	0.343000													3	30					0	0	0.009096	0	0
CDK1	983	broad.mit.edu	37	10	62544479	62544479	+	Silent	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr10:62544479G>C	ENST00000448257.2	+	3	255	c.54G>C	c.(52-54)gtG>gtC	p.V18V	CDK1_ENST00000316629.4_Silent_p.V18V|CDK1_ENST00000373809.2_Silent_p.V18V|CDK1_ENST00000395284.3_Silent_p.V18V			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	18	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	p.V18V(2)		ovary(1)	1						ATGGAGTTGTGTATAAGGGTA	0.383000													37	68					0	0	0.015359	0	0
OR6C65	403282	broad.mit.edu	37	12	55794443	55794443	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:55794443T>A	ENST00000379665.2	+	1	230	c.131T>A	c.(130-132)aTt>aAt	p.I44N		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44N(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGATCATCATTATGTTAACA	0.308000													11	25					0	0	0.008291	0	0
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chrX:155254706C>T	ENST00000285718.7	+	0	1151				WASH6P_ENST00000461007.1_RNA														p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637000													4	8					0	0	0.014758	0	0
ATP7B	540	broad.mit.edu	37	13	52534313	52534313	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr13:52534313T>C	ENST00000242839.4	-	7	2248	c.2092A>G	c.(2092-2094)Atc>Gtc	p.I698V	ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.I698V|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.I587V|ATP7B_ENST00000418097.2_Missense_Mutation_p.I698V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	698					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.I698V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATAAAGAAGATGAGATTTAGA	0.478000									Wilson disease				25	73					0	0	0.004656	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216959	4216959	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:4216959C>A	ENST00000600132.1	+	18	2078	c.1802C>A	c.(1801-1803)cCc>cAc	p.P601H	ANKRD24_ENST00000262970.5_Missense_Mutation_p.P691H|ANKRD24_ENST00000318934.4_Missense_Mutation_p.P601H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	601								p.P691H(1)|p.P467H(1)|p.P601H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GAAACAAAACCCACAGGGGCT	0.567000													20	23					1.56452e-12	2.0768e-12	0.007413	1	0
PDCD1LG2	80380	broad.mit.edu	37	9	5522564	5522564	+	Silent	SNP	A	A	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr9:5522564A>C	ENST00000397747.3	+	2	266	c.18A>C	c.(16-18)ctA>ctC	p.L6L	PDCD1LG2_ENST00000397745.2_Silent_p.L6L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	6					immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	p.L6L(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCCTCCTGCTAATGTTGAGCC	0.443000													8	176					0	0	0.003080	0	0
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350																											TACAGATGCTACGGTGCACAC	0.677000													4	130					0	0	0.003080	0	0
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr18:31523045C>A	ENST00000261592.5	-	9	1823	c.1526G>T	c.(1525-1527)cGt>cTt	p.R509L	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R290L|NOL4_ENST00000538587.1_Missense_Mutation_p.R435L|NOL4_ENST00000535384.1_Missense_Mutation_p.R224L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus	RNA binding	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443000													17	30					5.3912e-06	6.03493e-06	0.006122	1	0
MMP1	4312	broad.mit.edu	37	11	102667829	102667829	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr11:102667829G>T	ENST00000315274.6	-	3	482	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	139	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.Q139K(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTCCAGAGTTGGAAGGCTTTC	0.423000													50	80					1.08114e-33	1.82215e-33	0.014410	1	0
ZNF43	7594	broad.mit.edu	37	19	21991490	21991490	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:21991490C>A	ENST00000594012.1	-	7	1845	c.1331G>T	c.(1330-1332)gGa>gTa	p.G444V	ZNF43_ENST00000354959.4_Missense_Mutation_p.G450V|ZNF43_ENST00000598381.1_Missense_Mutation_p.G444V|ZNF43_ENST00000595461.1_Missense_Mutation_p.G444V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G450L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAAT	0.383000													20	36					5.26018e-13	7.04488e-13	0.012319	1	0
XPO7	23039	broad.mit.edu	37	8	21853061	21853061	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr8:21853061G>T	ENST00000434536.1	+	21	2425	c.2323G>T	c.(2323-2325)Gcc>Tcc	p.A775S	XPO7_ENST00000433566.4_Missense_Mutation_p.A767S|XPO7_ENST00000252512.9_Missense_Mutation_p.A766S			Q9UIA9	XPO7_HUMAN	exportin 7	766					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.A766S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCATGATCCAGCCTGTACTAC	0.448000													13	28					0.000219431	0.000233438	0.020292	1	0
ASTN1	460	broad.mit.edu	37	1	176857323	176857323	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:176857323G>T	ENST00000367654.2	-	18	2995	c.2982C>A	c.(2980-2982)acC>acA	p.T994T	ASTN1_ENST00000361833.2_Silent_p.T986T|ASTN1_ENST00000367657.3_Silent_p.T986T|ASTN1_ENST00000424564.2_Silent_p.T986T			O14525	ASTN1_HUMAN	astrotactin 1	994					cell migration|neuron cell-cell adhesion	integral to membrane		p.T986T(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGAGCTCATGGTAGCCTCCT	0.537000													27	69					2.49675e-24	3.6619e-24	0.125774	1	0
HTR5A	3361	broad.mit.edu	37	7	154875952	154875952	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:154875952G>A	ENST00000287907.2	+	2	1405	c.829G>A	c.(829-831)Gag>Aag	p.E277K	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	277						integral to plasma membrane	serotonin receptor activity	p.E277K(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CACGTGGCGGGAGCAGAAGGA	0.607000													43	55					0	0	0.139131	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221181	140221181	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:140221181G>A	ENST00000531613.1	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1												p.R92H(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGCGAGGAGCTG	0.602000													115	373					0	0	0.139131	0	0
STAP2	55620	broad.mit.edu	37	19	4327149	4327149	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:4327149C>A	ENST00000600324.1	-	8	802	c.735G>T	c.(733-735)ctG>ctT	p.L245L	STAP2_ENST00000594605.1_Silent_p.L245L|STAP2_ENST00000597593.1_5'UTR	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	245	SH2.					cytoplasm|nucleus	protein binding	p.L245L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCTAACAGGAATGGCA	0.647000													26	86					9.04412e-07	9.94853e-07	0.099896	1	0
GLYATL1	92292	broad.mit.edu	37	11	58711127	58711127	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:58711127C>A	ENST00000300079.5	+	2	186	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity	p.L46M(2)|p.L46L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ctcagagtggctgaggataat	0.488000													18	28					2.4624e-09	2.8512e-09	0.049695	1	0
LILRB1	10859	broad.mit.edu	37	19	55144063	55144063	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:55144063C>T	ENST00000396331.1	+	7	1167	c.810C>T	c.(808-810)ggC>ggT	p.G270G	LILRB1_ENST00000396327.3_Silent_p.G270G|LILRB1_ENST00000396315.1_Silent_p.G270G|LILRB1_ENST00000427581.2_Silent_p.G306G|LILRB1_ENST00000396317.1_Silent_p.G270G|LILRB1_ENST00000396332.4_Silent_p.G270G|LILRB1_ENST00000434867.2_Silent_p.G270G|LILRB1_ENST00000324602.7_Silent_p.G270G|LILRB1_ENST00000418536.2_Silent_p.G270G|LILRB1_ENST00000448689.1_Silent_p.G270G|LILRB1_ENST00000396321.2_Silent_p.G270G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	270	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.G270G(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGCTGGCGCACAGCCCC	0.607000										HNSCC(37;0.09)			87	167					0	0	0.139131	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123489404	123489404	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:123489404G>T	ENST00000529750.1	+	18	2232	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	GRAMD1B_ENST00000450171.2_Silent_p.L322L|GRAMD1B_ENST00000322282.7_Silent_p.L635L|GRAMD1B_ENST00000456860.2_Silent_p.L642L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	635						integral to membrane		p.L635L(4)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCCTAGTCTGGTGCTGCTGG	0.547000													3	1					0.004672	0.00476482	0.115264	1	0
RARS	5917	broad.mit.edu	37	5	167933091	167933091	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:167933091A>G	ENST00000231572.3	+	10	1177	c.1123A>G	c.(1123-1125)Ata>Gta	p.I375V	RARS_ENST00000538719.1_Missense_Mutation_p.I169V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	375					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	p.I375V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACCATTAACCATAGTAAAATC	0.358000													44	113					0	0	0.131918	0	0
LRGUK	136332	broad.mit.edu	37	7	133812255	133812255	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:133812255C>T	ENST00000285928.2	+	1	204	c.135C>T	c.(133-135)ccC>ccT	p.P45P	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	45							ATP binding|kinase activity	p.P45P(2)		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						GGTCTTTTCCCATGGGGCAGA	0.577000													78	167					0	0	0.139131	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256557	140256557	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:140256557C>A	ENST00000398631.2	+	1	1500	c.1500C>A	c.(1498-1500)ggC>ggA	p.G500G	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.G500G(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGGTGGGCGAGCACGCAC	0.677000													57	97					5.86059e-21	8.2801e-21	0.139131	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952372	33952372	+	RNA	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr2:33952372G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA														p.I157I(1)									TGGGGAAGCGGATGGGCAGCA	0.632000													14	27					0	0	0.105934	0	0
CCDC116	164592	broad.mit.edu	37	22	21991045	21991045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr22:21991045C>T	ENST00000292779.3	+	5	1689	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	510								p.Q510*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AAGGGCCCGGCAGGCCTCCCG	0.642000													91	149					0	0	0.139131	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	47					0	0	0.047766	0	0
EPHA6	285220	broad.mit.edu	37	3	96963011	96963011	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:96963011G>T	ENST00000389672.5	+	5	1524	c.1486G>T	c.(1486-1488)Gta>Tta	p.V496L	EPHA6_ENST00000470610.2_Missense_Mutation_p.V496L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	401	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V402L(4)|p.V496L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCCGTGATAGTACTTGACTT	0.443000													14	29					0.000151284	0.000158488	0.105934	1	0
TECTA	7007	broad.mit.edu	37	11	120989078	120989078	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:120989078G>T	ENST00000392793.1	+	7	1125	c.854G>T	c.(853-855)tGt>tTt	p.C285F	TECTA_ENST00000264037.2_Missense_Mutation_p.C285F			O75443	TECTA_HUMAN	tectorin alpha	285	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.C285F(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGTGCCGCTGTCTGGATTTC	0.512000													54	78					3.21867e-24	4.67619e-24	0.139131	1	0
HSD11B1	3290	broad.mit.edu	37	1	209878375	209878375	+	Splice_Site	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:209878375G>T	ENST00000367028.2	+	2	257	c.88_splice	c.e2+1	p.E30_splice	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site_p.E30_splice|HSD11B1_ENST00000367027.3_Splice_Site_p.E30_splice	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	30					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATTCAGACCAGGTAAGTACCC	0.448000													28	79					1.88708e-17	2.57178e-17	0.134883	1	0
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	G	A	rs145163836		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr22:39218644G>A	ENST00000333039.2	-	5	1596	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	491	Pentaxin.					integral to membrane	metal ion binding	p.F491F(2)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622000													20	49					0	0	0.049695	0	0
TMTC2	160335	broad.mit.edu	37	12	83251161	83251161	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:83251161G>T	ENST00000549919.1	+	3	2243	c.438G>T	c.(436-438)ttG>ttT	p.L146F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L152F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L152F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	152						endoplasmic reticulum|integral to membrane	binding	p.L152F(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCTCTCCTTGCTCTGCTACA	0.557000													21	46					4.7796e-09	5.49298e-09	0.099896	1	0
C8orf47	203111	broad.mit.edu	37	8	99102146	99102146	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:99102146C>T	ENST00000318528.3	+	2	1260	c.901C>T	c.(901-903)Cct>Tct	p.P301S	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	301	Glu-rich.							p.P301S(2)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCAGATTCAACCTGAAGGAAT	0.438000													47	87					0	0	0.139131	0	0
RP1L1	94137	broad.mit.edu	37	8	10467287	10467287	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:10467287G>T	ENST00000382483.3	-	4	4544	c.4321C>A	c.(4321-4323)Ccg>Acg	p.P1441T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1441					intracellular signal transduction			p.P1441T(2)		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)		GCGGGGCACGGCTCTGCAGAG	0.627000													250	481					5.97512e-100	9.78903e-100	0.139131	1	0
USH2A	7399	broad.mit.edu	37	1	216074227	216074227	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:216074227G>A	ENST00000366943.2	-	39	7707	c.7321C>T	c.(7321-7323)Ccc>Tcc	p.P2441S	USH2A_ENST00000307340.3_Missense_Mutation_p.P2441S|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2441	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2441S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAAGCCTGGGAGGCAGCACG	0.493000										HNSCC(13;0.011)			19	38					0	0	0.175082	0	0
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622000													10	49					0	0	0.093190	0	0
PEX5L	51555	broad.mit.edu	37	3	179519752	179519752	+	Missense_Mutation	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:179519752G>C	ENST00000467460.1	-	15	2075	c.1745C>G	c.(1744-1746)cCt>cGt	p.P582R	PEX5L_ENST00000464614.1_Missense_Mutation_p.P474R|PEX5L_ENST00000392649.3_Missense_Mutation_p.P474R|PEX5L_ENST00000465751.1_Missense_Mutation_p.P558R|PEX5L_ENST00000468741.1_Missense_Mutation_p.P390R|PEX5L_ENST00000476138.1_Missense_Mutation_p.P539R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.P547R|PEX5L_ENST00000263962.8_Missense_Mutation_p.P580R|PEX5L_ENST00000472994.1_Missense_Mutation_p.P523R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	582					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	p.P582R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCAGGATGAGGAACTTGCTG	0.463000													76	189					0	0	0.139131	0	0
UBE3D	90025	broad.mit.edu	37	6	83775392	83775392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr6:83775392C>A	ENST00000369747.3	-	1	168	c.46G>T	c.(46-48)Gga>Tga	p.G16*	UBE3D_ENST00000369745.5_Nonsense_Mutation_p.G16*	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	16						cytoplasm	ligase activity	p.G16*(1)									TGCAGCTGTCCCCGCACCTCC	0.672000											OREG0017550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					7.93312e-07	8.78921e-07	0.119110	1	0
PAF1	54623	broad.mit.edu	37	19	39879075	39879075	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:39879075C>A	ENST00000221265.3	-	11	1220	c.890G>T	c.(889-891)tGg>tTg	p.W297L	PAF1_ENST00000221266.7_Missense_Mutation_p.W264L|PAF1_ENST00000595564.1_Missense_Mutation_p.W287L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	297					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.W297L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTCACGTTCCAGTTGTACTC	0.478000													87	196					4.3955e-51	6.90722e-51	0.139131	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													4	42					0	0	0.047766	0	0
SNTG1	54212	broad.mit.edu	37	8	51617264	51617264	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:51617264G>T	ENST00000522124.1	+	16	1804	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C	SNTG1_ENST00000518864.1_Missense_Mutation_p.W381C|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381C|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.W381F(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCGCCCAGTGGGAAAGAGCCT	0.557000													17	54					4.14922e-12	5.11184e-12	0.146539	1	0
EMR3	84658	broad.mit.edu	37	19	14758015	14758015	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:14758015G>A	ENST00000253673.5	-	8	960	c.860C>T	c.(859-861)aCg>aTg	p.T287M	EMR3_ENST00000344373.4_Missense_Mutation_p.T235M|EMR3_ENST00000443157.2_Missense_Mutation_p.T161M|EMR3_ENST00000599900.1_Missense_Mutation_p.T72M	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	287					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAAAGTCAGCGTCACAGACTT	0.483000													16	479					0	0	0.146539	0	0
LPPR4	9890	broad.mit.edu	37	1	99772407	99772407	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:99772407C>A	ENST00000370185.3	+	7	2630	c.2133C>A	c.(2131-2133)agC>agA	p.S711R	LPPR4_ENST00000457765.1_Missense_Mutation_p.S653R|LPPR4_ENST00000370184.1_Missense_Mutation_p.S553R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		711							phosphatidate phosphatase activity	p.S711R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAGAGGGCAGCGAAATTGGCT	0.522000													16	38					6.72482e-11	8.21923e-11	0.132662	1	0
HOXA11	3207	broad.mit.edu	37	7	27222458	27222458	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:27222458T>A	ENST00000006015.3	-	2	970	c.899A>T	c.(898-900)aAc>aTc	p.N300I		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	300					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N300L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						ACGGTCTCTGTTAATTTTTTT	0.448000			T	NUP98	CML								51	167					0	0	0.139131	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759333	121759333	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:121759333C>A	ENST00000261367.7	+	6	2470	c.1042C>A	c.(1042-1044)Cta>Ata	p.L348I	SNCAIP_ENST00000503116.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L348I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L301I|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L301I|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	301					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.L348I(4)|p.L301I(2)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGTCAGTGGCCTAAACCGGAC	0.483000													43	89					1.00953e-15	1.36375e-15	0.131918	1	0
DLGAP3	58512	broad.mit.edu	37	1	35369906	35369906	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:35369906G>A	ENST00000373347.1	-	3	1347	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	DLGAP3_ENST00000235180.4_Missense_Mutation_p.A360V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	360					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.A360V(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)				CCTGGCTTTGGCCTTGGTCTC	0.592000													71	154					0	0	0.139131	0	0
CTNND1	1500	broad.mit.edu	37	11	57569381	57569381	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:57569381G>T	ENST00000524630.1	+	7	1646	c.1133G>T	c.(1132-1134)cGc>cTc	p.R378L	CTNND1_ENST00000361332.4_Missense_Mutation_p.R378L|CTNND1_ENST00000361796.4_Missense_Mutation_p.R378L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R378L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R277L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R277L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R277L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R277L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R324L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R324L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R277L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R277L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R55L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R324L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R378L|CTNND1_ENST00000399050.4_Missense_Mutation_p.R378L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R55L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R324L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R378L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R378L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R378L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R277L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R324L|CTNND1_ENST00000527467.1_Missense_Mutation_p.R55L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R55L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R378L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R277L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R324L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R55L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R378L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	378					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.R378L(4)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTGGATTCCGCTTGGATGCT	0.542000													40	121					2.35958e-20	3.30342e-20	0.111260	1	0
TRPM8	79054	broad.mit.edu	37	2	234835266	234835266	+	Silent	SNP	G	G	A	rs149381224		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr2:234835266G>A	ENST00000324695.4	+	2	124	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	28						integral to membrane		p.A28A(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACTCCAGCGCGTCTCGGAGCA	0.512000													29	63					0	0	0.108266	0	0
ZBTB16	7704	broad.mit.edu	37	11	114113048	114113048	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:114113048G>T	ENST00000335953.4	+	5	1993	c.1613G>T	c.(1612-1614)cGc>cTc	p.R538L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R538L|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	538					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.R538L(2)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCCACCTGCGCTCACATACA	0.602000													15	53					1.9806e-07	2.22637e-07	0.069288	1	0
SETBP1	26040	broad.mit.edu	37	18	42532619	42532619	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr18:42532619G>T	ENST00000282030.5	+	4	3610	c.3314G>T	c.(3313-3315)gGt>gTt	p.G1105V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1105						nucleus	DNA binding	p.G1105V(2)|p.G1051V(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGATGTCCGGTGCAGCTAAG	0.547000									Schinzel-Giedion syndrome				59	138					7.50695e-29	1.1334e-28	0.139131	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782618	115782618	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:115782618G>T	ENST00000343348.6	-	19	3571	c.2784C>A	c.(2782-2784)agC>agA	p.S928R	SEMA6A_ENST00000513137.1_Missense_Mutation_p.S355R|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S928R|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S405R|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S945R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S307R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	928					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.S928R(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGCCTGGTGGCTTCTCGTGA	0.557000													36	73					1.59361e-14	2.07979e-14	0.092188	1	0
OR1F2P	26184	broad.mit.edu	37	16	3266457	3266457	+	RNA	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:3266457G>A	ENST00000576468.1	+	0	418																											GGTGACTCCCGTGATGAATCC	0.433000													5	18					0	0	0.038147	0	0
RPTN	126638	broad.mit.edu	37	1	152128367	152128367	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:152128367T>A	ENST00000316073.3	-	3	1272	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	403	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.Y403F(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGACCATAGTGAGAACT	0.507000													428	914					0	0	0.139131	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193285	132193285	+	Silent	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:132193285C>A	ENST00000359827.3	-	2	1130	c.168G>T	c.(166-168)gtG>gtT	p.V56V	PLXNA4_ENST00000321063.4_Silent_p.V56V|PLXNA4_ENST00000423507.2_Silent_p.V56V|PLXNA4_ENST00000378539.5_Silent_p.V56V			Q9HCM2	PLXA4_HUMAN	plexin A4	56	Sema.					integral to membrane|intracellular|plasma membrane		p.V56V(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCTCTCATCCACCACCAGGT	0.592000													39	91					1.47197e-15	1.97116e-15	0.098360	1	0
TRIM22	10346	broad.mit.edu	37	11	5730700	5730700	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:5730700C>T	ENST00000379965.3	+	8	1596	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	440	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P440L(2)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGTGCCTCCCTGTCGTATT	0.438000													67	137					0	0	0.139131	0	0
SNTG1	54212	broad.mit.edu	37	8	51617263	51617263	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:51617263G>T	ENST00000522124.1	+	16	1803	c.1142G>T	c.(1141-1143)tGg>tTg	p.W381L	SNTG1_ENST00000518864.1_Missense_Mutation_p.W381L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W381L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W381L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.W381F(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCGCCCAGTGGGAAAGAGCC	0.552000													17	55					4.14922e-12	5.11184e-12	0.146539	1	0
DNHD1	144132	broad.mit.edu	37	11	6588836	6588836	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:6588836G>A	ENST00000254579.6	+	36	12661	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	DNHD1_ENST00000527990.2_Missense_Mutation_p.E4033K	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4033					microtubule-based movement	dynein complex	microtubule motor activity	p.E4033K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCAGGGCCTGAGCCACTCAG	0.642000													19	34					0	0	0.049695	0	0
C1orf173	127254	broad.mit.edu	37	1	75038095	75038095	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:75038095G>T	ENST00000326665.5	-	14	3517	c.3299C>A	c.(3298-3300)gCg>gAg	p.A1100E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1100	Glu-rich.							p.A1100E(2)		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						CCCTTCTTCCGCTTTAAGTTT	0.443000													62	153					1.44317e-28	2.15775e-28	0.139131	1	0
THSD4	79875	broad.mit.edu	37	15	72037537	72037537	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:72037537G>A	ENST00000355327.3	+	12	2133	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E667K|THSD4_ENST00000357769.4_Missense_Mutation_p.E307K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	667						proteinaceous extracellular matrix	metalloendopeptidase activity	p.E667K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCGACCCCCGAGGAGGAGCC	0.547000													187	399					0	0	0.139131	0	0
ZNF287	57336	broad.mit.edu	37	17	16470691	16470691	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr17:16470691C>T	ENST00000395824.1	-	2	972	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	ZNF287_ENST00000395825.3_Missense_Mutation_p.E119K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	112	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E112K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTCACTGCTTCCTCGCTGCTC	0.507000													48	44					0	0	0.139131	0	0
SPATA13	221178	broad.mit.edu	37	13	24860373	24860373	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr13:24860373G>T	ENST00000424834.2	+	8	2796	c.2323G>T	c.(2323-2325)Gtc>Ttc	p.V775F	SPATA13_ENST00000409126.1_Missense_Mutation_p.V72F|SPATA13_ENST00000399949.2_Missense_Mutation_p.V72F|SPATA13_ENST00000382108.3_Missense_Mutation_p.V775F|SPATA13_ENST00000382095.4_Missense_Mutation_p.V150F|SPATA13_ENST00000343003.6_Missense_Mutation_p.V94F			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	150					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	p.V150F(2)|p.V775F(2)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCAACGTGGTCTGCGCAGA	0.582000													173	263					1.06226e-90	1.72199e-90	0.139131	1	0
KLRC2	3822	broad.mit.edu	37	12	10584778	10584778	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:10584778A>G	ENST00000381902.2	-	5	517	c.511T>C	c.(511-513)Tca>Cca	p.S171P	KLRC2_ENST00000536833.2_Missense_Mutation_p.S112P|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.S171P	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	171	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.S171P(2)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CCAATCCATGAGGAAGGTAAA	0.299000													12	26					0	0	0.105934	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789113	15789113	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:15789113T>A	ENST00000550308.1	+	3	621	c.241T>A	c.(241-243)Tcg>Acg	p.S81T	CYP4F12_ENST00000324632.9_Missense_Mutation_p.S81T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.S81T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GACCCAGATGTCGGCCACCTA	0.512000													66	194					0	0	0.139131	0	0
ADCY8	114	broad.mit.edu	37	8	131792870	131792870	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:131792870G>A	ENST00000286355.5	-	18	5614	c.3522C>T	c.(3520-3522)gtC>gtT	p.V1174V	ADCY8_ENST00000377928.3_Silent_p.V1043V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1174					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V1174V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTTGGGTTGGACTCTTCCCA	0.522000										HNSCC(32;0.087)			59	125					0	0	0.139131	0	0
CACNA1C	775	broad.mit.edu	37	12	2797654	2797654	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:2797654C>A	ENST00000399655.1	+	46	6091	c.5826C>A	c.(5824-5826)agC>agA	p.S1942R	CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1948R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1967R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1950R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1977R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1977R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1961R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1962R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1970R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1990R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1942R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1983R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2013R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1959R	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	2025					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.S1477R(2)|p.S2055R(2)|p.S1990R(2)|p.S1983R(2)|p.S1977R(2)		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)	TCCAGAGAAGCCATTCCCCTG	0.652000													41	86					1.49673e-21	2.15418e-21	0.086207	1	0
WIPF1	7456	broad.mit.edu	37	2	175437101	175437101	+	Silent	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr2:175437101T>A	ENST00000392547.2	-	5	531	c.432A>T	c.(430-432)ccA>ccT	p.P144P	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P144P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P144P|WIPF1_ENST00000359761.3_Silent_p.P144P|WIPF1_ENST00000272746.5_Silent_p.P144P|WIPF1_ENST00000409415.3_Silent_p.P144P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	144					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.P144P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGGCCACTTGGGGGTGAAA	0.582000													44	111					0	0	0.117977	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	54					0	0	0.014758	0	0
OR51A4	401666	broad.mit.edu	37	11	4967760	4967760	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:4967760A>T	ENST00000380373.2	-	1	596	c.571T>A	c.(571-573)Tgt>Agt	p.C191S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C191S(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCAGAACAGGCCAACTTC	0.408000													14	51					0	0	0.049695	0	0
HSD11B1	3290	broad.mit.edu	37	1	209878376	209878376	+	Splice_Site	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:209878376G>T	ENST00000367028.2	+	2	257		c.e2+1		RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TTCAGACCAGGTAAGTACCCA	0.453000													28	79					1.88708e-17	2.57178e-17	0.134883	1	0
NAV3	89795	broad.mit.edu	37	12	78542638	78542638	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:78542638G>T	ENST00000397909.2	+	22	4897	c.4724G>T	c.(4723-4725)cGg>cTg	p.R1575L	NAV3_ENST00000266692.7_Missense_Mutation_p.R1398L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575L|NAV3_ENST00000536525.2_Missense_Mutation_p.R1575L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1575L(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAAACTGCGGAGAGAGCTG	0.333000										HNSCC(70;0.22)			4	11					0.00116845	0.00120766	0.021553	1	0
GLUD2	2747	broad.mit.edu	37	X	120182373	120182373	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chrX:120182373G>T	ENST00000328078.1	+	1	912	c.835G>T	c.(835-837)Ggg>Tgg	p.G279W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	279					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G279L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTCTTCCATGGGATTGAAAA	0.433000													69	67					3.94839e-29	6.02032e-29	0.139131	1	0
PTPRM	5797	broad.mit.edu	37	18	7926632	7926632	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr18:7926632A>G	ENST00000332175.8	+	5	1651	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	PTPRM_ENST00000400053.4_Missense_Mutation_p.Q143R|PTPRM_ENST00000400060.4_Missense_Mutation_p.Q205R|PTPRM_ENST00000580170.1_Missense_Mutation_p.Q205R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	205	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q205R(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTACCTTCCAGTGCAGTGCC	0.463000													36	75					0	0	0.139131	0	0
VCAN	1462	broad.mit.edu	37	5	82815769	82815769	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:82815769T>C	ENST00000265077.3	+	7	2209	c.1644T>C	c.(1642-1644)taT>taC	p.Y548Y	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.Y548Y|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.Y500Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	548	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.Y548Y(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGGTCACTATGGATTCACCT	0.408000													36	76					0	0	0.064281	0	0
RELN	5649	broad.mit.edu	37	7	103162494	103162494	+	Missense_Mutation	SNP	G	G	A	rs139106600		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:103162494G>A	ENST00000424685.2	-	48	7802	c.7643C>T	c.(7642-7644)tCg>tTg	p.S2548L	RELN_ENST00000428762.1_Missense_Mutation_p.S2548L|RELN_ENST00000343529.5_Missense_Mutation_p.S2548L			P78509	RELN_HUMAN	reelin	2548					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.S2548L(2)		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)		AGCCATTCCCGACGCCACGGC	0.488000													56	129					0	0	0.139131	0	0
DSCAM	1826	broad.mit.edu	37	21	41496170	41496170	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATGATGCCGTTCAGCTTGA	0.572000													12	334					0	0	0.080935	0	0
GLG1	2734	broad.mit.edu	37	16	74526922	74526922	+	Silent	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:74526922G>A	ENST00000422840.2	-	7	1166	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	GLG1_ENST00000447066.2_Silent_p.N378N|GLG1_ENST00000205061.5_Silent_p.N389N	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	389						Golgi membrane|integral to membrane	receptor binding	p.N389N(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATCGCGGAAGGTTTTCCACAT	0.418000													13	144					0	0	0.119110	0	0
ANKRD42	338699	broad.mit.edu	37	11	82917155	82917155	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:82917155G>T	ENST00000393389.3	+	3	1210	c.278G>T	c.(277-279)gGt>gTt	p.G93V	ANKRD42_ENST00000393392.2_Missense_Mutation_p.G65V|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G93V|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000526731.1_Missense_Mutation_p.G93V|ANKRD42_ENST00000528722.1_5'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	65								p.G65V(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAACGAGAGGTTGGACAGCA	0.378000													22	54					2.98393e-07	3.32989e-07	0.076483	1	0
KIAA1467	57613	broad.mit.edu	37	12	13229033	13229033	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:13229033T>A	ENST00000197268.8	+	11	1718	c.1598T>A	c.(1597-1599)cTt>cAt	p.L533H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	533						integral to membrane		p.L533H(2)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCTCCATCCTTCTGGATCTG	0.552000													58	96					0	0	0.139131	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074441	76074441	+	RNA	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:76074441A>T	ENST00000395215.3	+	0	620																											CGAGCTGCAGAGAAGCGGTCC	0.557000													5	56					0	0	0.047766	0	0
IGSF8	93185	broad.mit.edu	37	1	160061677	160061677	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:160061677A>T	ENST00000368086.1	-	6	1994	c.1778T>A	c.(1777-1779)gTc>gAc	p.V593D	IGSF8_ENST00000314485.7_Missense_Mutation_p.V593D			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	593					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.V593D(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCACCAGTGACTAGGGCCAC	0.567000													59	135					0	0	0.139131	0	0
HOXA11	3207	broad.mit.edu	37	7	27222459	27222459	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:27222459T>G	ENST00000006015.3	-	2	969	c.898A>C	c.(898-900)Aac>Cac	p.N300H		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	300					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N300L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CGGTCTCTGTTAATTTTTTTT	0.448000			T	NUP98	CML								50	167					0	0	0.139131	0	0
COL12A1	1303	broad.mit.edu	37	6	75841736	75841736	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr6:75841736G>A	ENST00000322507.8	-	35	6166	c.5857C>T	c.(5857-5859)Cgc>Tgc	p.R1953C	COL12A1_ENST00000345356.6_Missense_Mutation_p.R789C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1953C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1953C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1953	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R1953C(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGTCCCAGCGAACATCGAGG	0.458000													14	56					0	0	0.119110	0	0
FCF1	51077	broad.mit.edu	37	14	75182766	75182766	+	Missense_Mutation	SNP	T	T	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr14:75182766T>G	ENST00000341162.4	+	4	310	c.256T>G	c.(256-258)Tta>Gta	p.L86V	FCF1_ENST00000534938.2_Missense_Mutation_p.L74V|FCF1_ENST00000553615.1_Missense_Mutation_p.L71V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	86	PINc.				rRNA processing	nucleolus		p.L86V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CAAACTGGACTTAGTGCAGTC	0.358000													108	62					0	0	0.139131	0	0
LTBP1	4052	broad.mit.edu	37	2	33572578	33572578	+	Splice_Site	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr2:33572578G>A	ENST00000404816.2	+	26	4353		c.e26+1		LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTCCACAGGTAAGTCCCAG	0.547000													86	158					0	0	0.139131	0	0
POFUT2	23275	broad.mit.edu	37	21	46697007	46697007	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr21:46697007C>A	ENST00000331343.7	-	6	782	c.756G>T	c.(754-756)gaG>gaT	p.E252D	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.E252D	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	252					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	p.E252D(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGCTCCTGAACTCGTCTCCCA	0.612000													80	204					7.74691e-53	1.22992e-52	0.139131	1	0
OR52J3	119679	broad.mit.edu	37	11	5068314	5068314	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:5068314G>A	ENST00000380370.1	+	1	559	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A187T(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGGCATTGCAAAATTGTC	0.428000													17	56					0	0	0.146539	0	0
MOV10	4343	broad.mit.edu	37	1	113217566	113217566	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:113217566G>T	ENST00000413052.2	+	2	422	c.32G>T	c.(31-33)cGg>cTg	p.R11L	MOV10_ENST00000357443.2_Missense_Mutation_p.R11L|MOV10_ENST00000544796.1_Missense_Mutation_p.R11L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.R11L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	11					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R11L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGGCAGCTCCGGGAGGCGGGC	0.632000													39	75					6.4685e-43	1.00621e-42	0.139131	1	0
KDR	3791	broad.mit.edu	37	4	55955043	55955043	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr4:55955043C>T	ENST00000263923.4	-	26	3797	c.3502G>A	c.(3502-3504)Gct>Act	p.A1168T	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1168					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.A1168T(2)|p.A1168S(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)	ACCTGCTGAGCATTAGCTTGC	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			11	29					0	0	0.080935	0	0
MAGI1	9223	broad.mit.edu	37	3	65479199	65479199	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:65479199C>A	ENST00000330909.8	-	3	537	c.538G>T	c.(538-540)Ggc>Tgc	p.G180C	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.G180C|MAGI1_ENST00000402939.2_Missense_Mutation_p.G180C|MAGI1_ENST00000483466.1_Missense_Mutation_p.G180C	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	180	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.G180C(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATAGGTGCCGACTTCCAGA	0.498000													36	75					9.65963e-10	1.1443e-09	0.183431	1	0
TTC37	9652	broad.mit.edu	37	5	94818288	94818288	+	Silent	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:94818288T>C	ENST00000358746.2	-	39	4399	c.4101A>G	c.(4099-4101)agA>agG	p.R1367R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1367							binding	p.R1367R(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGAACTTGTCTCAAAAGTA	0.388000													21	20					0	0	0.062417	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551855	58551855	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:58551855G>T	ENST00000282326.1	+	4	655	c.408G>T	c.(406-408)tgG>tgT	p.W136C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	136					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W136C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGGACTGGAGTTTCGGTG	0.622000													160	343					5.10563e-82	8.19028e-82	0.139131	1	0
SPTA1	6708	broad.mit.edu	37	1	158627290	158627290	+	Missense_Mutation	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:158627290C>T	ENST00000368148.3	-	19	2962	c.2782G>A	c.(2782-2784)Ggt>Agt	p.G928S	SPTA1_ENST00000368147.3_Missense_Mutation_p.G928S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	928					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.G928S(2)		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)					TCATCAGCACCATAGTTAGTA	0.438000													28	53					0	0	0.108266	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	32					0	0	0.150653	0	0
ASXL3	80816	broad.mit.edu	37	18	31323885	31323885	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr18:31323885T>C	ENST00000269197.5	+	12	4073	c.4073T>C	c.(4072-4074)gTc>gCc	p.V1358A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.V1358A(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTAGCTCTGTCTTGATTCCC	0.473000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	143	319					0	0	0.139131	0	0
CSMD1	64478	broad.mit.edu	37	8	2944626	2944626	+	Silent	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:2944626G>T	ENST00000602557.1	-	50	8025	c.7470C>A	c.(7468-7470)ctC>ctA	p.L2490L	CSMD1_ENST00000542608.1_Silent_p.L2489L|CSMD1_ENST00000520002.1_Silent_p.L2490L|CSMD1_ENST00000537824.1_Silent_p.L2489L|CSMD1_ENST00000602723.1_Silent_p.L2490L|CSMD1_ENST00000400186.3_Silent_p.L2490L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2490	Sushi 14.					integral to membrane		p.L2218L(2)|p.L2489L(2)		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)		TACCCTGGCAGAGTGGCGTGA	0.453000													19	22					1.01871e-10	1.23529e-10	0.049695	1	0
TAOK2	9344	broad.mit.edu	37	16	29996668	29996668	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:29996668G>T	ENST00000308893.4	+	14	2600	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	TAOK2_ENST00000543033.1_Missense_Mutation_p.E519D|TAOK2_ENST00000416441.2_Missense_Mutation_p.E346D|TAOK2_ENST00000279394.3_Missense_Mutation_p.E519D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672000													33	53					7.11191e-15	9.44167e-15	0.173368	1	0
ZNF43	7594	broad.mit.edu	37	19	21991491	21991491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:21991491C>A	ENST00000594012.1	-	7	1844	c.1330G>T	c.(1330-1332)Gga>Tga	p.G444*	ZNF43_ENST00000595461.1_Nonsense_Mutation_p.G444*|ZNF43_ENST00000354959.4_Nonsense_Mutation_p.G450*|ZNF43_ENST00000598381.1_Nonsense_Mutation_p.G444*	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G450L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGTTTCTCTCCAGTATGAATT	0.383000													20	36					5.26018e-13	6.6399e-13	0.062417	1	0
GSDMB	55876	broad.mit.edu	37	17	38066035	38066035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr17:38066035G>A	ENST00000394175.2	-	3	773	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	GSDMB_ENST00000394179.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q184*|GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q184*	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	184						cytoplasm		p.Q184*(4)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AGATGGCCCTGAGAGATCTGG	0.532000													63	143					0	0	0.139131	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216959	4216959	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:4216959C>A	ENST00000600132.1	+	18	2078	c.1802C>A	c.(1801-1803)cCc>cAc	p.P601H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.P601H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P691H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	601								p.P691H(1)|p.P467H(1)|p.P601H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GAAACAAAACCCACAGGGGCT	0.567000													20	23					1.56452e-12	1.95883e-12	0.043863	1	0
PTPRD	5789	broad.mit.edu	37	9	8528763	8528763	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr9:8528763C>A	ENST00000381196.4	-	12	912	c.369G>T	c.(367-369)agG>agT	p.R123S	PTPRD_ENST00000397611.3_Missense_Mutation_p.R123S|PTPRD_ENST00000537002.1_Missense_Mutation_p.R123S|PTPRD_ENST00000360074.4_Missense_Mutation_p.R123S|PTPRD_ENST00000463477.1_Missense_Mutation_p.R123S|PTPRD_ENST00000540109.1_Missense_Mutation_p.R123S|PTPRD_ENST00000358503.5_Missense_Mutation_p.R123S|PTPRD_ENST00000397617.3_Missense_Mutation_p.R123S|PTPRD_ENST00000397606.3_Missense_Mutation_p.R123S|PTPRD_ENST00000356435.5_Missense_Mutation_p.R123S|PTPRD_ENST00000486161.1_Missense_Mutation_p.R123S|PTPRD_ENST00000355233.5_Missense_Mutation_p.R123S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	123					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R123S(8)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGGAAGCCCCTGGGAATTT	0.468000										TSP Lung(15;0.13)			9	38					1.08611e-07	1.22986e-07	0.080935	1	0
GART	2618	broad.mit.edu	37	21	34883584	34883584	+	Silent	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr21:34883584A>G	ENST00000381831.3	-	17	2552	c.2289T>C	c.(2287-2289)atT>atC	p.I763I	GART_ENST00000543717.1_Silent_p.I315I|GART_ENST00000381815.4_Silent_p.I763I|GART_ENST00000381839.3_Silent_p.I763I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	763	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.I763I(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACACTGCCAATCACCCAGG	0.453000													137	336					0	0	0.139131	0	0
PPM1B	5495	broad.mit.edu	37	2	44429147	44429147	+	Missense_Mutation	SNP	A	A	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr2:44429147A>G	ENST00000378551.2	+	2	1221	c.809A>G	c.(808-810)aAt>aGt	p.N270S	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.N270S|PPM1B_ENST00000409432.3_Missense_Mutation_p.N270S|PPM1B_ENST00000409895.4_Missense_Mutation_p.N270S|PPM1B_ENST00000378540.4_3'UTR	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	270					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.N270S(6)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCTGGAAAATGTGTGCAAT	0.353000													15	44					0	0	0.049695	0	0
IL13RA2	3598	broad.mit.edu	37	X	114242517	114242517	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chrX:114242517C>A	ENST00000371936.1	-	9	1224	c.975G>T	c.(973-975)tgG>tgT	p.W325C	IL13RA2_ENST00000243213.1_Missense_Mutation_p.W325C			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	325	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.W325C(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTTTATCACTCCACTCACTCC	0.338000													16	16					9.16793e-09	1.04582e-08	0.160694	1	0
IQGAP2	10788	broad.mit.edu	37	5	75936794	75936794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:75936794G>T	ENST00000274364.6	+	17	2257	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	654					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.E654*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTACATTCGTGAGAATATATG	0.408000													15	59					2.32078e-09	2.70758e-09	0.132662	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	18					0.00448238	0.00460191	0.047766	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	57					0	0	0.047766	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													5	59					0	0	0.047766	0	0
INPPL1	3636	broad.mit.edu	37	11	71946219	71946219	+	Silent	SNP	C	C	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:71946219C>T	ENST00000541756.1	+	22	2679	c.1749C>T	c.(1747-1749)gtC>gtT	p.V583V	INPPL1_ENST00000538751.1_Silent_p.V583V|INPPL1_ENST00000298229.2_Silent_p.V825V			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	825					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.V825V(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCTCACAGTCAAGTCCATGG	0.557000													56	97					0	0	0.139131	0	0
LAT	27040	broad.mit.edu	37	16	28996766	28996766	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:28996766G>A	ENST00000395456.2	+	1	350	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	LAT_ENST00000354453.4_Missense_Mutation_p.V10M|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Missense_Mutation_p.V10M|LAT_ENST00000564277.1_Missense_Mutation_p.V10M|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.V10M|LAT_ENST00000395461.3_Missense_Mutation_p.V46M|LAT_ENST00000360872.5_Missense_Mutation_p.V10M	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	10					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	p.V10M(2)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				GGTCCCCTGCGTGCTGGGGCT	0.637000													39	94					0	0	0.098360	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958720	57958720	+	Missense_Mutation	SNP	G	G	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:57958720G>A	ENST00000311591.3	+	1	815	c.758G>A	c.(757-759)gGc>gAc	p.G253D		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253D(2)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCTTTGGCACCCTCATC	0.577000													59	102					0	0	0.139131	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	43					0	0	0.021553	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	48					0	0	0.014758	0	0
SPAG17	200162	broad.mit.edu	37	1	118554977	118554977	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:118554977C>A	ENST00000336338.5	-	30	4371	c.4306G>T	c.(4306-4308)Gac>Tac	p.D1436Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1436						cilium|flagellar axoneme|microtubule		p.D1436Y(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAACTTTGTCTTCTCGAGTT	0.378000													23	57					6.44725e-10	7.69672e-10	0.069288	1	0
CDH20	28316	broad.mit.edu	37	18	59157904	59157904	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr18:59157904C>A	ENST00000262717.4	+	2	516	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	CDH20_ENST00000538374.1_Missense_Mutation_p.Q40K|CDH20_ENST00000536675.2_Missense_Mutation_p.Q40K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	40					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q40K(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCCAACACCACAAGGTGAATT	0.512000													13	110					0.00010058	0.000106091	0.093190	1	0
CYP4F3	4051	broad.mit.edu	37	19	15758117	15758117	+	Missense_Mutation	SNP	A	A	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:15758117A>T	ENST00000221307.7	+	5	556	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	CYP4F3_ENST00000586182.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.S170C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.S170C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	170					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.S170C(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTCAATGAGAGTGTGAACAT	0.502000													77	147					0	0	0.139131	0	0
GLUD2	2747	broad.mit.edu	37	X	120182374	120182374	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chrX:120182374G>T	ENST00000328078.1	+	1	913	c.836G>T	c.(835-837)gGg>gTg	p.G279V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	279					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G279L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTCTTCCATGGGATTGAAAAC	0.433000													69	67					8.3131e-28	1.23098e-27	0.139131	1	0
FAM188B	84182	broad.mit.edu	37	7	30821598	30821598	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr7:30821598G>T	ENST00000265299.6	+	3	266	c.189G>T	c.(187-189)aaG>aaT	p.K63N	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	63								p.K63N(2)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATAGGCAAAGGAAAATCCTC	0.363000													20	46					2.37509e-13	3.04803e-13	0.055883	1	0
GEM	2669	broad.mit.edu	37	8	95272446	95272446	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:95272446C>A	ENST00000297596.2	-	2	550	c.286G>T	c.(286-288)Gca>Tca	p.A96S	GEM_ENST00000396194.2_Missense_Mutation_p.A96S	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	96					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.A96S(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCACACCTGCAAAGATGTTG	0.592000													67	147					1.23106e-19	1.70795e-19	0.139131	1	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600154	28600154	+	RNA	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:28600154T>A	ENST00000568624.1	-	0	342																											CTTCTGTTCCTATAGAAAGAG	0.557000													11	56					0	0	0.119110	0	0
KIF2B	84643	broad.mit.edu	37	17	51902309	51902309	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr17:51902309G>T	ENST00000268919.4	+	1	2071	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	639					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.A639S(2)		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						TTTTTGCATTGCCCGGTCTTT	0.448000													32	79					1.39806e-14	1.84018e-14	0.134883	1	0
ELL2	22936	broad.mit.edu	37	5	95224622	95224622	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:95224622T>C	ENST00000237853.4	-	12	2225	c.1876A>G	c.(1876-1878)Agg>Ggg	p.R626G	ELL2_ENST00000431061.2_Missense_Mutation_p.R376G	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	626					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.R626G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CCTATTAGCCTTTTGATGTGA	0.343000													3	30					0	0	0.150653	0	0
CDK1	983	broad.mit.edu	37	10	62544479	62544479	+	Silent	SNP	G	G	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr10:62544479G>C	ENST00000448257.2	+	3	255	c.54G>C	c.(52-54)gtG>gtC	p.V18V	CDK1_ENST00000373809.2_Silent_p.V18V|CDK1_ENST00000395284.3_Silent_p.V18V|CDK1_ENST00000316629.4_Silent_p.V18V			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	18	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	p.V18V(2)		ovary(1)	1						ATGGAGTTGTGTATAAGGGTA	0.383000													37	68					0	0	0.183431	0	0
OR6C65	403282	broad.mit.edu	37	12	55794443	55794443	+	Missense_Mutation	SNP	T	T	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:55794443T>A	ENST00000379665.2	+	1	230	c.131T>A	c.(130-132)aTt>aAt	p.I44N		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44N(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGATCATCATTATGTTAACA	0.308000													11	25					0	0	0.069234	0	0
ATP7B	540	broad.mit.edu	37	13	52534313	52534313	+	Missense_Mutation	SNP	T	T	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr13:52534313T>C	ENST00000242839.4	-	7	2248	c.2092A>G	c.(2092-2094)Atc>Gtc	p.I698V	ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.I698V|ATP7B_ENST00000448424.2_Missense_Mutation_p.I698V|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.I587V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	698					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.I698V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATAAAGAAGATGAGATTTAGA	0.478000									Wilson disease				25	73					0	0	0.099896	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5522564	5522564	+	Silent	SNP	A	A	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr9:5522564A>C	ENST00000397747.3	+	2	266	c.18A>C	c.(16-18)ctA>ctC	p.L6L	PDCD1LG2_ENST00000397745.2_Silent_p.L6L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	6					immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	p.L6L(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCCTCCTGCTAATGTTGAGCC	0.443000													8	176					0	0	0.038147	0	0
NOL4	8715	broad.mit.edu	37	18	31523045	31523045	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr18:31523045C>A	ENST00000261592.5	-	9	1823	c.1526G>T	c.(1525-1527)cGt>cTt	p.R509L	NOL4_ENST00000538587.1_Missense_Mutation_p.R435L|NOL4_ENST00000535384.1_Missense_Mutation_p.R224L|NOL4_ENST00000535475.1_Missense_Mutation_p.R290L|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	509						nucleolus	RNA binding	p.R509L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCTCCAGACGCATCCTCTT	0.443000													17	30					5.3912e-06	5.80591e-06	0.175082	1	0
MMP1	4312	broad.mit.edu	37	11	102667829	102667829	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:102667829G>T	ENST00000315274.6	-	3	482	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	139	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.Q139K(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTCCAGAGTTGGAAGGCTTTC	0.423000													50	80					1.08114e-33	1.66496e-33	0.139131	1	0
ZNF43	7594	broad.mit.edu	37	19	21991490	21991490	+	Missense_Mutation	SNP	C	C	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:21991490C>A	ENST00000594012.1	-	7	1845	c.1331G>T	c.(1330-1332)gGa>gTa	p.G444V	ZNF43_ENST00000595461.1_Missense_Mutation_p.G444V|ZNF43_ENST00000354959.4_Missense_Mutation_p.G450V|ZNF43_ENST00000598381.1_Missense_Mutation_p.G444V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G450L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAAT	0.383000													20	36					5.26018e-13	6.6399e-13	0.062417	1	0
XPO7	23039	broad.mit.edu	37	8	21853061	21853061	+	Missense_Mutation	SNP	G	G	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr8:21853061G>T	ENST00000434536.1	+	21	2425	c.2323G>T	c.(2323-2325)Gcc>Tcc	p.A775S	XPO7_ENST00000252512.9_Missense_Mutation_p.A766S|XPO7_ENST00000433566.4_Missense_Mutation_p.A767S			Q9UIA9	XPO7_HUMAN	exportin 7	766					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.A766S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCATGATCCAGCCTGTACTAC	0.448000													13	28					0.000219431	0.000228327	0.119110	1	0
PROX1-AS1	100505832	broad.mit.edu	37	1	214150167	214150168	+	RNA	DEL	AC	AC	-	rs72087575		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:214150167_214150168delAC	ENST00000601744.1	-	0	111				PROX1-AS1_ENST00000451396.2_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000598091.1_RNA																							TTCTGTGTATacacacacacac	0.421													2	4	---	---	---	---					
OR2M3	127062	broad.mit.edu	37	1	248367162	248367162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr1:248367162delG	ENST00000456743.1	+	1	831	c.793delG	c.(793-795)atfs	p.D265fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCACATCTGATCGCTCCCC	0.502													54	128	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	6	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													7	13	---	---	---	---					
GNS	2799	broad.mit.edu	37	12	65152963	65152968	+	In_Frame_Del	DEL	CCAGCA	CCAGCA	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr12:65152963_65152968delCCAGCA	ENST00000258145.3	-	1	259_264	c.89_94delTGCTGG	c.(88-96)ggc>g	p.VLG30del	GNS_ENST00000542058.1_In_Frame_Del_p.VLG30del|GNS_ENST00000543646.1_In_Frame_Del_p.VLG30del	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	30						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AGGCAGCCGCCCAGCACCAGCAGTAG	0.723													3	4	---	---	---	---					
MAGEL2	54551	broad.mit.edu	37	15	23889920	23889920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:23889920delG	ENST00000532292.1	-	1	1255	c.1161delC	c.(1159-1161)ccfs	p.P387fs		NM_019066.4	NP_061939.3			MAGE-like 2											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)		ACACAACTACGGGCAGAGAGC	0.642													22	77	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93489385	93489389	+	Frame_Shift_Del	DEL	ATTGC	ATTGC	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr15:93489385_93489389delATTGC	ENST00000394196.4	+	12	2384_2388	c.1316_1320delATTGC	c.(1315-1320)afs	p.NC439fs	CHD2_ENST00000420239.2_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000536619.1_Frame_Shift_Del_p.NC452fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	439	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATTCCAGAATTGCATTGACAGCT	0.429													36	110	---	---	---	---					
CYP4F8	11283	broad.mit.edu	37	19	15726721	15726722	+	RNA	INS	-	-	ACTCACTCATTCCTCTGATC	rs148338083	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC	ENST00000441682.2	+	0	262							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACGGCAGAGAAactcactcatt	0.559													7	26	---	---	---	---					
OR11H1	81061	broad.mit.edu	37	22	16449040	16449040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	2e4532d8-cebf-4bdf-95d0-5c02f94d186e	g.chr22:16449040delG	ENST00000252835.4	-	1	765	c.765delC	c.(763-765)acfs	p.T255fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GAGACCCACAGGTAGAGAAGG	0.443													32	62	---	---	---	---					
C1orf127	148345	broad.mit.edu	37	1	11008412	11008413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:11008412_11008413insC	ENST00000377004.4	-	12	1778_1779	c.1779_1780insG	c.(1777-1782)agcctgfs	p.SL593fs	C1orf127_ENST00000377008.4_Frame_Shift_Ins_p.SL426fs	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	444										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCCGCCAGGGCCTCGCCAATG	0.658													8	223	---	---	---	---					
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	RNA	INS	-	-	C	rs57007114		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477																											TCACTTTCCTGCCCGAACCTCC	0.609													7	71	---	---	---	---					
TOE1	114034	broad.mit.edu	37	1	45808763	45808764	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:45808763_45808764insG	ENST00000372090.5	+	8	1505_1506	c.922_923insG	c.(922-924)gtgfs	p.V308fs	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Frame_Shift_Ins_p.V228fs	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	308						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GGCTTATGGCTGGTGCCCCCTG	0.569													7	406	---	---	---	---					
LINC00466	199899	broad.mit.edu	37	1	63732706	63732707	+	RNA	DEL	GG	GG	-	rs150125125	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:63732706_63732707delGG	ENST00000455304.2	-	0	191																											agggggaagaggaggaggagaa	0.550													2	4	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs145548198	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)gcc>CGCgcc	p.11_12insR		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	11					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			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)		CCCCCTCCCAACgccgccgccg	0.752													9	18	---	---	---	---					
OR2M3	127062	broad.mit.edu	37	1	248367162	248367162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr1:248367162delG	ENST00000456743.1	+	1	831	c.793delG	c.(793-795)atfs	p.D265fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCACATCTGATCGCTCCCC	0.502													54	128	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atg>a	p.ML6del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	6						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													7	157	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:53529193_53529195delGAT	ENST00000288139.3	+	0	118_120				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													7	252	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	6	---	---	---	---					
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs78850778	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr3:146246596_146246597insT	ENST00000342435.4	-	4	526_527	c.116_117insA	c.(115-117)tccfs	p.S39fs	PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.S32fs|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	39					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGGGCCCAGGGTAGCCACTATA	0.500													7	106	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													3	4	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116356323	116356323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr9:116356323delT	ENST00000462403.1	+	1	558	c.124delT	c.(124-126)ttfs	p.F44fs	RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGAAGGAATTTTTTTTTCC	0.622													9	744	---	---	---	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GGCCATTGAGGTGTGTGTGTGT	0.594													10	162	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													7	22	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													10	45	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													8	549	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					10	753	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													13	192	---	---	---	---					
MAGEL2	54551	broad.mit.edu	37	15	23889920	23889920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:23889920delG	ENST00000532292.1	-	1	1255	c.1161delC	c.(1159-1161)ccfs	p.P387fs		NM_019066.4	NP_061939.3			MAGE-like 2											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)		ACACAACTACGGGCAGAGAGC	0.642													22	77	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93489385	93489389	+	Frame_Shift_Del	DEL	ATTGC	ATTGC	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr15:93489385_93489389delATTGC	ENST00000394196.4	+	12	2384_2388	c.1316_1320delATTGC	c.(1315-1320)afs	p.NC439fs	CHD2_ENST00000536619.1_Frame_Shift_Del_p.NC452fs|CHD2_ENST00000420239.2_Frame_Shift_Del_p.NC439fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.NC439fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	439	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATTCCAGAATTGCATTGACAGCT	0.429													36	110	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													43	555	---	---	---	---					
RP11-51O6.1	0	broad.mit.edu	37	16	61089303	61089303	+	RNA	DEL	T	T	-	rs80101907		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:61089303delT	ENST00000591758.1	-	0	565																											Cttcttcttcttttttttttt	0.244													7	12	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													6	5	---	---	---	---					
ASXL3	80816	broad.mit.edu	37	18	31325623	31325624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr18:31325623_31325624insG	ENST00000269197.5	+	12	5811_5812	c.5811_5812insG	c.(5809-5814)gcccagfs	p.Q1938fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCCTGTGGCTGCCAGGGGCCC	0.525													9	161	---	---	---	---					
CTD-2369P2.5	0	broad.mit.edu	37	19	10377497	10377498	+	RNA	INS	-	-	T			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:10377497_10377498insT	ENST00000592893.1	-	0	141																											TTCCATAGCCCTTTTTTTTTCC	0.426													2	4	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													7	326	---	---	---	---					
GNRH2	2797	broad.mit.edu	37	20	3026345	3026346	+	Frame_Shift_Ins	INS	-	-	GCCCC	rs67749149	by1000genomes	TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr20:3026345_3026346insGCCCC	ENST00000380347.2	+	3	710_711	c.305_306insGCCCC	c.(304-306)gccfs	p.A102fs	GNRH2_ENST00000359100.2_Frame_Shift_Ins_p.A102fs|GNRH2_ENST00000380346.2_Frame_Shift_Ins_p.A101fs|GNRH2_ENST00000359987.1_Frame_Shift_Ins_p.A101fs|GNRH2_ENST00000245983.2_Frame_Shift_Ins_p.A109fs			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	109					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						GCAGCCCGAGAGCCCCGCCCCG	0.634													10	51	---	---	---	---					
OR11H1	81061	broad.mit.edu	37	22	16449040	16449040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-3773-01A-01D-1040-01	TCGA-67-3773-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1	475ca4ed-a370-41ae-8032-f0d25b9afff8	g.chr22:16449040delG	ENST00000252835.4	-	1	765	c.765delC	c.(763-765)acfs	p.T255fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GAGACCCACAGGTAGAGAAGG	0.443													32	62	---	---	---	---					
