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
LARGE	9215	broad.mit.edu	37	22	33670592	33670592	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:33670592G>A	ENST00000354992.2	-	16	2663	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000402320.1_Silent_p.L646L|LARGE_ENST00000452586.2_Silent_p.L497L|LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000437602.2_Silent_p.L649L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	698					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCGTTGGGCAGCACAATGAAC	0.512000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	65					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114150116	114150116	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:114150116G>A	ENST00000434316.2	+	2	579	c.220G>A	c.(220-222)Gca>Aca	p.A74T	TMCO3_ENST00000375391.1_Missense_Mutation_p.A74T|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	74						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ACTGAAAACTGCAATTGGAGC	0.517000													22	17					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110562247	110562247	+	Splice_Site	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:110562247G>C	ENST00000369799.5	+	15	1831	c.1465_splice	c.e15+1	p.M488_splice	AHCYL1_ENST00000393614.4_Splice_Site_p.M441_splice|AHCYL1_ENST00000359172.3_Splice_Site_p.M441_splice	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	488					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTAAGAAAATGGGTGAGTGAA	0.443000													7	81					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46294225	46294225	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:46294225C>A	ENST00000270223.6	-	2	607	c.562G>T	c.(562-564)Gcg>Tcg	p.A188S	DMWD_ENST00000377735.3_Missense_Mutation_p.A188S|DMWD_ENST00000601370.1_5'UTR	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	188					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		ACTTGACCCGCTGAGAAGCCC	0.557000													5	170					0.217242	0.226897	1	1	0
THAP4	51078	broad.mit.edu	37	2	242572757	242572757	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:242572757C>G	ENST00000407315.1	-	2	1246	c.815G>C	c.(814-816)aGc>aCc	p.S272T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	272							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCAGGCTGCTCCCACTGCA	0.622000													9	62					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527000													4	236					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183914	55183914	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:55183914G>T	ENST00000337714.3	+	2	1322	c.1089G>T	c.(1087-1089)gtG>gtT	p.V363V	AKAP1_ENST00000572557.1_Silent_p.V363V|AKAP1_ENST00000571629.1_Silent_p.V363V|AKAP1_ENST00000314126.3_Silent_p.V363V|AKAP1_ENST00000539273.1_Silent_p.V363V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	363					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCGAACAGGTGCTGGCCACCA	0.532000													8	98					0.000157383	0.000182642	1	1	0
TCERG1	10915	broad.mit.edu	37	5	145838725	145838725	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:145838725C>T	ENST00000296702.5	+	4	755	c.717C>T	c.(715-717)gcC>gcT	p.A239A	TCERG1_ENST00000394421.2_Silent_p.A239A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	239	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcccaggctcagg	0.672000													3	50					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828366	32828366	+	Missense_Mutation	SNP	C	C	T	rs150852332	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:32828366C>T	ENST00000397452.1	-	11	1253	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	BPIFC_ENST00000300399.3_Missense_Mutation_p.M381I|BPIFC_ENST00000534972.1_Missense_Mutation_p.M105I|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	381						extracellular region	lipopolysaccharide binding|phospholipid binding										TTACGAAGTCCATGGAAACGA	0.502000													3	70					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561899	11561899	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:11561899G>A	ENST00000294484.6	+	2	988	c.850G>A	c.(850-852)Gac>Aac	p.D284N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D284N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	284					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCGCGCGGCGACGCGGAGCG	0.637000													6	17					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104776250	104776250	+	RNA	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:104776250G>A	ENST00000532510.1	-	0	3182																											TGATGAAGATGGAGCCCCTTG	0.438000													11	162					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53564526	53564526	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:53564526T>G	ENST00000342160.3	-	77	12585	c.12128A>C	c.(12127-12129)aAg>aCg	p.K4043T	HUWE1_ENST00000262854.6_Missense_Mutation_p.K4043T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4043	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAATCGATTCTTCATTTCTTC	0.542000													4	51					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:1009828C>A	ENST00000537687.1	+	26	8058	c.7415C>A	c.(7414-7416)cCa>cAa	p.P2472Q	WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473000													4	265					0.00909568	0.00994179	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2800282	2800282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:2800282G>T	ENST00000399655.1	+	47	6599	c.6334G>T	c.(6334-6336)Gag>Tag	p.E2112*	CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E2120*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E2132*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E2129*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E2153*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E2147*|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E2140*|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E2131*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E2137*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E2147*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E2120*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E2118*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E2112*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E2183*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.E2160*	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	2195					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			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)	CGGGGGCGAAGAGGACGCGGG	0.692000													4	11					1.23904e-05	1.46503e-05	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	115					0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161335453	161335453	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:161335453G>T	ENST00000367974.1	-	4	216	c.211C>A	c.(211-213)Cct>Act	p.P71T		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	71										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTTCAGAGGCATTTGCCAG	0.502000													7	262					2.0095e-06	2.40628e-06	1	1	0
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1012	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572000													4	432					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98671935	98671935	+	Silent	SNP	C	C	A	rs145166442		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:98671935C>A	ENST00000261574.5	+	27	3171	c.2991C>A	c.(2989-2991)atC>atA	p.I997I	IPO5_ENST00000490680.1_Silent_p.I979I|IPO5_ENST00000539640.1_Silent_p.I854I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	979					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	p.I997I(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAGGGAAAATCATGAAGTTCA	0.433000													46	125					2.215e-12	2.79477e-12	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46786750	46786750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:46786750T>A	ENST00000529230.1	-	28	3514	c.3468A>T	c.(3466-3468)aaA>aaT	p.K1156N	CKAP5_ENST00000312055.5_Missense_Mutation_p.K1156N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K1156N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K1156N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1156					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TAGGCCCGGATTTGTCTTCAT	0.408000													26	92					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227518	28227518	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:28227518G>A	ENST00000343684.3	+	1	421	c.369G>A	c.(367-369)aaG>aaA	p.K123K		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	123										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGAGGCTGAAGGAGAGAGAGA	0.542000													50	87					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107930823	107930823	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:107930823C>G	ENST00000328300.6	+	49	4671	c.4427C>G	c.(4426-4428)aCa>aGa	p.T1476R	COL4A5_ENST00000361603.2_Missense_Mutation_p.T1470R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1470	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACAGCCAGACAACGGATGCA	0.517000									Alport syndrome with Diffuse Leiomyomatosis				11	147					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877541	96877541	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:96877541G>A	ENST00000394166.3	+	2	2068	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	NR2F2_ENST00000421109.2_Missense_Mutation_p.A94T|NR2F2_ENST00000394171.2_Missense_Mutation_p.A74T|NR2F2_ENST00000453270.2_Missense_Mutation_p.A74T	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	227	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CGTCGAGTGGGCCCGGAACAT	0.612000													4	148					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202137391	202137391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:202137391A>G	ENST00000358485.4	+	4	815	c.619A>G	c.(619-621)Aag>Gag	p.K207E	CASP8_ENST00000264274.9_Missense_Mutation_p.K148E|CASP8_ENST00000264275.5_Missense_Mutation_p.K180E|CASP8_ENST00000323492.7_Missense_Mutation_p.K148E|CASP8_ENST00000432109.2_Missense_Mutation_p.K148E|CASP8_ENST00000392258.3_Missense_Mutation_p.K148E|CASP8_ENST00000392259.2_Missense_Mutation_p.K148E|CASP8_ENST00000392266.3_Missense_Mutation_p.K148E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	148					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGAGATGGAGAAGAGGGTCAT	0.398000										HNSCC(4;0.00038)			84	217					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:20871907T>G	ENST00000262715.5	-	6	1209	c.1169A>C	c.(1168-1170)cAc>cCc	p.H390P	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627000													8	147					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911925	88911925	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:88911925C>A	ENST00000263321.5	+	1	1306	c.804C>A	c.(802-804)ttC>ttA	p.F268L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	268					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGCATCATTCTTCTCCTCTT	0.463000													3	112					1	1	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	77					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785336	11785336	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:11785336T>C	ENST00000356957.3	-	9	1898	c.1791A>G	c.(1789-1791)acA>acG	p.T597T	TXNDC11_ENST00000283033.5_Silent_p.T570T			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	597					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCTCAGGCCTGTGAAGTTTG	0.463000													3	244					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52637659	52637659	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:52637659A>C	ENST00000356770.4	-	16	2563	c.2561T>G	c.(2560-2562)cTt>cGt	p.L854R	PBRM1_ENST00000410007.1_Missense_Mutation_p.L886R|PBRM1_ENST00000394830.3_Missense_Mutation_p.L886R|PBRM1_ENST00000409767.1_Missense_Mutation_p.L901R|PBRM1_ENST00000337303.4_Missense_Mutation_p.L886R|PBRM1_ENST00000409057.1_Missense_Mutation_p.L886R|PBRM1_ENST00000296302.7_Missense_Mutation_p.L886R|PBRM1_ENST00000409114.3_Missense_Mutation_p.L901R			Q86U86	PB1_HUMAN	polybromo 1	886	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGTGAAAGAAGAATCTCTCC	0.343000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								4	28					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934474	68934474	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:68934474A>G	ENST00000356291.2	-	7	676	c.617T>C	c.(616-618)aTt>aCt	p.I206T	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	206	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCCTTGGACAATTCTTTGAGT	0.473000													32	101					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	114					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322748	55322748	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:55322748A>T	ENST00000314644.2	+	1	966	c.966A>T	c.(964-966)aaA>aaT	p.K322N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCCTTGACAAAATGGCGGCAA	0.388000										HNSCC(20;0.049)			34	486					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274334	68274334	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:68274334G>T	ENST00000347230.4	-	5	805	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	ZFYVE26_ENST00000555452.1_Silent_p.R223R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	223					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGCAGAGTCCGCAGGGCTCCA	0.612000													4	81					2.56e-06	3.04608e-06	1	1	0
B4GALNT3	283358	broad.mit.edu	37	12	658990	658990	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:658990C>T	ENST00000266383.5	+	10	922	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	303						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGCAGCCAGCCACGTGGACT	0.632000													3	3					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902132	1902132	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582000													4	52					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158260923	158260923	+	Splice_Site	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:158260923G>A	ENST00000368170.3	+	2	340		c.e2-1			NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule						antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCCACCAAAAGCATCCCAGGA	0.468000													3	133					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170991760	170991760	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:170991760T>C	ENST00000337664.4	-	6	974	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	AADAT_ENST00000353187.2_Missense_Mutation_p.Y233C|AADAT_ENST00000515480.1_Missense_Mutation_p.Y233C|AADAT_ENST00000509167.1_Missense_Mutation_p.Y237C	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	233					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGAAAATAGTAAGGATCATC	0.279000													4	58					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156650008	156650008	+	Missense_Mutation	SNP	G	G	C	rs142038079	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:156650008G>C	ENST00000422843.3	+	6	783	c.631G>C	c.(631-633)Gtc>Ctc	p.V211L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	211	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTGGAGAGTCCAGGACAG	0.498000			T	SYK	peripheral T-cell lymphoma								8	116					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000098	8000098	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:8000098C>T	ENST00000380149.1	-	15	2481	c.2451G>A	c.(2449-2451)gaG>gaA	p.E817E	ALOXE3_ENST00000318227.3_Silent_p.E793E|ALOXE3_ENST00000448843.2_Silent_p.E661E			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	661					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGTGAAGTGCTCATCTGGGT	0.607000													31	124					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33591512	33591512	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:33591512C>A	ENST00000299977.4	+	4	1597	c.1449C>A	c.(1447-1449)ggC>ggA	p.G483G	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	483					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAAAGGCGGCTACACTGGGA	0.453000													3	109					0.115264	0.121059	1	1	0
SLC5A6	8884	broad.mit.edu	37	2	27429383	27429383	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:27429383A>T	ENST00000310574.3	-	5	952	c.479T>A	c.(478-480)gTg>gAg	p.V160E	SLC5A6_ENST00000408041.1_Missense_Mutation_p.V160E	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	160					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGCATAGAGCACAACTCCCAT	0.532000													19	68					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													4	208					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658406	46658406	+	Silent	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:46658406C>G	ENST00000544460.1	+	1	2795	c.2541C>G	c.(2539-2541)gtC>gtG	p.V847V	TDRD6_ENST00000316081.6_Silent_p.V847V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	847	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGAGCATGTCAATGTAACAT	0.398000													22	99					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285496	152285496	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152285496G>A	ENST00000368799.1	-	3	1901	c.1866C>T	c.(1864-1866)agC>agT	p.S622S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	622	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCCTGGCTAACACTGG	0.547000									Ichthyosis				4	204					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66838418	66838418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:66838418G>A	ENST00000359742.4	-	13	1873	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.R545*|GRIP1_ENST00000398016.3_Nonsense_Mutation_p.R493*			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	545	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAAGAGTCTCGGAGGAGCTGA	0.453000													3	136					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473528	56473528	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:56473528G>C	ENST00000291971.3	+	4	2209	c.2138G>C	c.(2137-2139)aGt>aCt	p.S713T	NLRP8_ENST00000590542.1_Missense_Mutation_p.S713T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	713						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGACCAACAGTGTTTTGGGG	0.507000													56	123					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88983083	88983083	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:88983083A>T	ENST00000237596.2	+	10	2111	c.2045A>T	c.(2044-2046)gAt>gTt	p.D682V	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.D100V|PKD2_ENST00000502363.1_Missense_Mutation_p.D100V	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	682						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATCATCAATGATACTTACTCT	0.323000													5	120					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206485	130206485	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:130206485C>T	ENST00000342483.5	+	5	912	c.506C>T	c.(505-507)cCt>cTt	p.P169L	ZNF79_ENST00000543471.1_Missense_Mutation_p.P145L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAAGCGAGACCTCGCAAATGT	0.522000													49	137					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169710808	169710808	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:169710808A>C	ENST00000337002.4	+	8	1215	c.1157A>C	c.(1156-1158)gAa>gCa	p.E386A	SEC62_ENST00000480708.1_Missense_Mutation_p.E386A	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	386					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GAGGAAGAGGAAAATGATGGA	0.368000													3	68					0	0	1	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463114	123463114	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:123463114G>A	ENST00000397389.2	+	6	1088	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	OGFOD2_ENST00000538755.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G13R|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.G177R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G13R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G13R|RP11-197N18.2_ENST00000540866.2_RNA	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	177							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GAACAACTACGGGGTGGGTGA	0.637000													3	12					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33640144	33640144	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:33640144C>T	ENST00000321505.4	+	15	4634	c.4454C>T	c.(4453-4455)aCc>aTc	p.T1485I	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1491I					KIAA1549-like																		CCAGGGGAAACCGAGATGGAC	0.527000													8	21					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148564298	148564298	+	Silent	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:148564298A>C	ENST00000340855.6	-	9	1841	c.1632T>G	c.(1630-1632)ctT>ctG	p.L544L	IDS_ENST00000537071.1_Silent_p.L147L|IDS_ENST00000541269.1_Silent_p.L333L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	544						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACAACTGGAAAAGATCTCCAC	0.448000													28	79					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167545329	167545329	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:167545329C>A	ENST00000519204.1	+	9	1601	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K	TENM2_ENST00000520394.1_Missense_Mutation_p.Q384K|TENM2_ENST00000518659.1_Missense_Mutation_p.Q616K|TENM2_ENST00000545108.1_Missense_Mutation_p.Q616K|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.Q449K					teneurin transmembrane protein 2																		TGGGAATGGACAATATTCTAA	0.582000													5	469					1	1	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53683289	53683289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:53683289G>A	ENST00000257934.4	+	22	5115	c.5024G>A	c.(5023-5025)cGc>cAc	p.R1675H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1675H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1675					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGCATCCAGCGCCTCTTTTCC	0.597000													16	49					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11400753	11400753	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:11400753G>T	ENST00000227756.4	-	4	1065	c.654C>A	c.(652-654)ggC>ggA	p.G218G		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CTTTGATGAAGCCTGGCTTCT	0.572000													3	98					0.004672	0.00522819	1	1	0
LINGO4	339398	broad.mit.edu	37	1	151775111	151775111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:151775111G>A	ENST00000368820.3	-	2	1007	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	24						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCCTCCAGGTAGGAGGAGG	0.622000													3	2					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:42635213C>T	ENST00000358131.5	+	3	427	c.219C>T	c.(217-219)aaC>aaT	p.N73N	TOX2_ENST00000372999.1_Silent_p.N22N|TOX2_ENST00000341197.3_Silent_p.N64N|TOX2_ENST00000423191.1_Silent_p.N22N	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557000													8	232					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:3119294C>A	ENST00000525643.2	+	7	837	c.505C>A	c.(505-507)Cca>Aca	p.P169T	IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582000													3	68					5.9392e-07	7.1575e-07	1	1	0
HADHB	3032	broad.mit.edu	37	2	26486289	26486289	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:26486289A>T	ENST00000317799.5	+	4	255	c.151A>T	c.(151-153)Ata>Tta	p.I51L	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I51L|HADHB_ENST00000545822.1_Missense_Mutation_p.I29L|HADHB_ENST00000537713.1_Missense_Mutation_p.I51L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	51					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACCCAATATAAGGAATGT	0.338000													62	75					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10188198	10188198	+	Splice_Site	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:10188198G>C	ENST00000256474.2	+	2	1181	c.340_splice	c.e2-1	p.G114_splice	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II).|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G114A(4)|p.?(3)|p.G114D(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCCCGATAGGTCACCTTTGG	0.537000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				52	55					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55214633	55214633	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:55214633G>A	ENST00000337526.6	-	4	3458	c.3215C>T	c.(3214-3216)cCa>cTa	p.P1072L	RTN4_ENST00000357732.4_Missense_Mutation_p.P272L|RTN4_ENST00000357376.3_Missense_Mutation_p.P866L|RTN4_ENST00000354474.6_Missense_Mutation_p.P840L|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000404909.1_Missense_Mutation_p.P866L|RTN4_ENST00000405240.1_Missense_Mutation_p.P866L|RTN4_ENST00000317610.7_Missense_Mutation_p.P253L|RTN4_ENST00000402434.2_Missense_Mutation_p.P225L|RTN4_ENST00000394609.2_Missense_Mutation_p.P79L|RTN4_ENST00000394611.2_Missense_Mutation_p.P866L	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1072	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCACCTGAATGGGTGGCCTTC	0.443000													31	119					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599588	123599588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:123599588C>A	ENST00000340011.5	+	5	1452	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*	SPAM1_ENST00000460182.1_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000402183.2_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000439500.1_Nonsense_Mutation_p.Y365*|SPAM1_ENST00000223028.7_Nonsense_Mutation_p.Y365*	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	365					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGAATCCTTACATAATCAACG	0.373000													3	104					0.115264	0.121059	1	1	0
FAM41C	284593	broad.mit.edu	37	1	809721	809721	+	RNA	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:809721G>A	ENST00000446136.1	-	0	972					NR_027055.1																						TGAGGAGGAGGTGGCCTAGAA	0.488000													4	23					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930774	42930774	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:42930774C>T	ENST00000244289.4	-	1	804	c.528G>A	c.(526-528)acG>acA	p.T176T	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	176					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTCTTGGGACGTAGATTCAG	0.532000													12	226					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521470	99521470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:99521470C>A	ENST00000375231.1	-	6	2292	c.1642G>T	c.(1642-1644)Gaa>Taa	p.E548*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.E548*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTTCACATTCATTACACTGG	0.383000													5	217					0.014758	0.0159454	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20874921	20874921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:20874921A>G	ENST00000381552.1	+	8	1327	c.959A>G	c.(958-960)gAt>gGt	p.D320G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320G|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D320G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202G			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	320					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTATTATAGATGATCACACA	0.358000													7	36					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3604393	3604393	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:3604393G>A	ENST00000315212.3	-	2	585	c.230C>T	c.(229-231)cCg>cTg	p.P77L		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	77					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	p.P77Q(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGAAACTTCCGGGCTTGCAGA	0.463000													4	19					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	82					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76475152	76475152	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:76475152C>G	ENST00000389840.5	-	51	8029	c.7905G>C	c.(7903-7905)aaG>aaC	p.K2635N	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.K2644N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAATGAAACTTAATGGCCG	0.458000													4	25					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202398007	202398007	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:202398007G>T	ENST00000406302.3	+	6	1024	c.871G>T	c.(871-873)Gat>Tat	p.D291Y	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.D291Y|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.D291Y	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	291					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGATGTGGCTGATGAGGGTCT	0.433000													24	39					3.99451e-17	5.14361e-17	1	1	0
COBL	23242	broad.mit.edu	37	7	51096418	51096418	+	Missense_Mutation	SNP	G	G	A	rs150697717	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:51096418G>A	ENST00000395542.2	-	12	2805	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	COBL_ENST00000265136.7_Missense_Mutation_p.P792L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	792										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGTGGAGGGGGGTCCCCT	0.602000													4	32					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170135904	170135904	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:170135904T>G	ENST00000263816.3	-	12	1828	c.1543A>C	c.(1543-1545)Att>Ctt	p.I515L	LRP2_ENST00000443831.1_Missense_Mutation_p.I515L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	515					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACGGCAATTCCTCTAGGA	0.408000													43	80					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919544	70919544	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:70919544G>T	ENST00000264436.3	-	7	1140	c.696C>A	c.(694-696)gcC>gcA	p.A232A	ADD2_ENST00000355733.3_Silent_p.A232A|ADD2_ENST00000413157.2_Silent_p.A232A|ADD2_ENST00000430656.1_Silent_p.A248A|ADD2_ENST00000407644.2_Silent_p.A232A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	232					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCGCTGCTGTGGCCGGTGTGT	0.577000													7	88					3.09899e-07	3.75877e-07	1	1	0
ZC4H2	55906	broad.mit.edu	37	X	64137703	64137703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:64137703G>A	ENST00000545618.1	-	6	1183	c.620C>T	c.(619-621)tCc>tTc	p.S207F	ZC4H2_ENST00000447788.2_Missense_Mutation_p.P158S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.S212F|ZC4H2_ENST00000337990.2_Missense_Mutation_p.S189F			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	212							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGGTTCCGGGACCGACTCTT	0.488000													3	47					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12962788	12962788	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:12962788C>G	ENST00000251472.4	+	8	854	c.815C>G	c.(814-816)aCt>aGt	p.T272S	MAST1_ENST00000591495.1_Missense_Mutation_p.T268S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	272					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCTTCGTTACTCAGCTGGTG	0.612000													20	32					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36937914	36937914	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:36937914G>C	ENST00000373103.1	-	8	1469	c.922C>G	c.(922-924)Cgc>Ggc	p.R308G	CSF3R_ENST00000440588.2_Missense_Mutation_p.R308G|CSF3R_ENST00000331941.5_Missense_Mutation_p.R308G|CSF3R_ENST00000338937.5_Missense_Mutation_p.R308G|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.R308G|CSF3R_ENST00000361632.4_Missense_Mutation_p.R308G|CSF3R_ENST00000373106.1_Missense_Mutation_p.R308G|CSF3R_ENST00000373104.1_Missense_Mutation_p.R308G	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	308	Fibronectin type-III 2.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGGATGCAGCGTATCTGCAGG	0.662000													28	73					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286340	79286340	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:79286340T>G	ENST00000442340.1	+	9	1423	c.933T>G	c.(931-933)gaT>gaG	p.D311E	TBX22_ENST00000373296.3_Missense_Mutation_p.D431E|TBX22_ENST00000373294.5_Missense_Mutation_p.D431E|TBX22_ENST00000373291.1_Missense_Mutation_p.D311E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	431					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAGTGATCAGTATCTAC	0.423000													5	268					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131510	130131510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:130131510C>A	ENST00000525842.1	-	2	626	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.E87*|ZBTB44_ENST00000357899.4_Nonsense_Mutation_p.E87*	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	87	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E87Q(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAAGCATATTCTAAAAGAGGT	0.408000													3	38					0.00909568	0.00994179	1	1	0
CNGA1	1259	broad.mit.edu	37	4	47938619	47938619	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:47938619T>A	ENST00000402813.3	-	10	2241	c.2099A>T	c.(2098-2100)gAg>gTg	p.E700V	CNGA1_ENST00000358519.4_Missense_Mutation_p.E631V|CNGA1_ENST00000544810.1_Missense_Mutation_p.E631V|CNGA1_ENST00000514170.1_Missense_Mutation_p.E631V|CNGA1_ENST00000420489.2_Missense_Mutation_p.E631V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	631					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTGACCCCTCCATTCGAGT	0.428000													121	252					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21492129	21492129	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:21492129T>A	ENST00000356929.3	-	3	342	c.145A>T	c.(145-147)Aat>Tat	p.N49Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AGGTCTAAATTAGACACAGCA	0.403000													53	72					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4706866	4706866	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:4706866C>T	ENST00000354582.6	+	17	1949	c.1599C>T	c.(1597-1599)ggC>ggT	p.G533G	ITPR1_ENST00000357086.4_Silent_p.G533G|ITPR1_ENST00000456211.2_Silent_p.G518G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.G518G|ITPR1_ENST00000423119.2_Silent_p.G533G|ITPR1_ENST00000302640.8_Silent_p.G518G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	533					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCGGTGATGGCCCAATGCTTC	0.517000													3	116					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212243	26212243	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:26212243C>A	ENST00000379034.1	+	2	429	c.280C>A	c.(280-282)Cca>Aca	p.P94T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	94	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAGAAAAGTCCAAGCACCTC	0.532000													50	111					3.37225e-12	4.22655e-12	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	43924839	43924839	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:43924839C>A	ENST00000262726.7	-	32	4653	c.4400G>T	c.(4399-4401)aGc>aTc	p.S1467I	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1315I|EFCAB6-AS1_ENST00000431327.2_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1467	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGGTTGATGCTGTACTGTCT	0.522000													33	125					1.06647e-15	1.36392e-15	1	1	0
HPS6	79803	broad.mit.edu	37	10	103826147	103826147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:103826147G>T	ENST00000299238.5	+	1	1001	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	306						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CACCCTGCAGGAGGCACCTGT	0.652000									Hermansky-Pudlak syndrome				4	43					0.000602214	0.000682026	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000													3	31					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439883	43439883	+	RNA	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:43439883G>T	ENST00000446844.3	-	0	192				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ATCGTGACTTGGGCTGTGGTG	0.488000													72	194					2.5963e-48	3.38962e-48	1	1	0
SPTB	6710	broad.mit.edu	37	14	65240106	65240106	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:65240106C>T	ENST00000389722.3	-	24	5063	c.5010G>A	c.(5008-5010)aaG>aaA	p.K1670K	SPTB_ENST00000542895.1_Silent_p.K1670K|SPTB_ENST00000389720.3_Silent_p.K1670K|SPTB_ENST00000556626.1_Silent_p.K1670K|SPTB_ENST00000389721.5_Silent_p.K1670K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1670					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGCGTAGTGCTTGTCCACTT	0.587000													5	115					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883076	13883076	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:13883076G>T	ENST00000265104.4	-	20	3215	c.3111C>A	c.(3109-3111)gcC>gcA	p.A1037A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1037	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCACTCCACGGCTTTGTTCA	0.532000									Kartagener syndrome				4	300					0.00024832	0.000286406	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45389452	45389452	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:45389452C>T	ENST00000389039.6	-	29	4216	c.3831G>A	c.(3829-3831)gcG>gcA	p.A1277A	DUOX2_ENST00000603300.1_Silent_p.A1277A			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1277	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCAGCAGCTCCGCCTTCACCA	0.587000													11	66					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157334	155157334	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:155157334G>T	ENST00000357232.3	-	25	7104	c.7105C>A	c.(7105-7107)Ctc>Atc	p.L2369I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2369	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAGGAAGAGATCATGATCA	0.393000													15	146					4.75885e-15	6.04502e-15	1	1	0
DGCR2	9993	broad.mit.edu	37	22	19055739	19055739	+	Splice_Site	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:19055739C>A	ENST00000545799.1	-	3	403		c.e3-1		DGCR2_ENST00000537045.1_Splice_Site|DGCR2_ENST00000263196.7_Splice_Site			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCGGTCACTTCTGAAAGCAAA	0.637000													7	12					8.12818e-05	9.4913e-05	1	1	0
GMIP	51291	broad.mit.edu	37	19	19746264	19746264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:19746264T>C	ENST00000203556.4	-	15	1657	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	GMIP_ENST00000587238.1_Missense_Mutation_p.E481G|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.E478G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	507					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCTTCGCACTCGCGGCACTT	0.632000													15	31					0	0	1	0	0
CD63	967	broad.mit.edu	37	12	56120509	56120509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:56120509G>A	ENST00000549117.1	-	5	837	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L|CD63_ENST00000420846.3_Missense_Mutation_p.S134L|CD63_ENST00000257857.4_Missense_Mutation_p.S134L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L|CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	134					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						GTCCAGGATCGAAGCAGTGTG	0.522000													10	24					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115422479	115422479	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:115422479A>C	ENST00000369358.4	-	3	458	c.214T>G	c.(214-216)Tta>Gta	p.L72V	NRAP_ENST00000359988.3_Missense_Mutation_p.L72V|NRAP_ENST00000360478.3_Missense_Mutation_p.L72V|NRAP_ENST00000369360.3_Missense_Mutation_p.L72V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	72						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTAGATTTAATGGAGTGTGA	0.368000													38	61					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10258335	10258335	+	Silent	SNP	G	G	A	rs147866099	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:10258335G>A	ENST00000254976.2	+	3	286	c.75G>A	c.(73-75)tcG>tcA	p.S25S	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Silent_p.S25S|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	25	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AATCTTAGTCGCTGGAAAGCA	0.363000													3	56					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8703023	8703023	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:8703023C>T	ENST00000378641.3	+	15	2011	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	PLCB1_ENST00000338037.6_Silent_p.D512D|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.D512D	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	512					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGAAAGTGACGACGACGATG	0.408000													32	149					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710932	77710932	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:77710932C>A	ENST00000328313.5	+	4	1340	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	373					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.F373L(5)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCTAGCTTCAGGGCGGGCC	0.607000													3	44					1	1	1	1	0
NAA35	60560	broad.mit.edu	37	9	88624791	88624791	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr9:88624791A>G	ENST00000361671.5	+	15	1368	c.1235A>G	c.(1234-1236)tAt>tGt	p.Y412C		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	412					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TGCTACCTATATAATAATCAC	0.388000													5	241					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110852894	110852894	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:110852894G>A	ENST00000485303.1	+	6	1757	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	494					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAAAAACTCAGTGGAACAATG	0.318000													26	12					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29487429	29487429	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:29487429A>T	ENST00000283351.4	-	9	1718	c.1383T>A	c.(1381-1383)ggT>ggA	p.G461G	TRAPPC8_ENST00000582513.1_Silent_p.G461G|TRAPPC8_ENST00000582539.1_Silent_p.G407G	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	461					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAACCAAGGCACCAGCTGCAT	0.338000													5	20					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159679	18159679	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:18159679G>C	ENST00000396275.2	+	3	1291	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCTTCCTCAGGAAACCCTGG	0.572000													7	69					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10345822	10345822	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr3:10345822G>A	ENST00000397117.1	-	8	1292	c.701C>T	c.(700-702)gCc>gTc	p.A234V	SEC13_ENST00000492602.1_5'UTR|SEC13_ENST00000350697.3_Missense_Mutation_p.A248V|SEC13_ENST00000397109.3_Missense_Mutation_p.A234V|SEC13_ENST00000337354.4_Missense_Mutation_p.A251V|SEC13_ENST00000383801.2_Missense_Mutation_p.A294V			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	248					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ATTGCTTGAGGCATCATCACA	0.498000													3	80					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220026737	220026737	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:220026737T>A	ENST00000455516.2	-	12	1798	c.1751A>T	c.(1750-1752)gAt>gTt	p.D584V	SLC23A3_ENST00000295738.7_Missense_Mutation_p.D459V|SLC23A3_ENST00000409878.3_Missense_Mutation_p.D576V|SLC23A3_ENST00000396775.3_3'UTR	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	576					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCCTCATCCCCAGGGTC	0.587000													20	45					0	0	1	0	0
NT5C3B	115024	broad.mit.edu	37	17	39981887	39981887	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:39981887T>A	ENST00000269534.8	-	9	868	c.767A>T	c.(766-768)tAc>tTc	p.Y256F	NT5C3B_ENST00000435506.2_Missense_Mutation_p.Y264F|NT5C3B_ENST00000521789.1_Missense_Mutation_p.Y164F	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		GGAGTCCATGTAGCGCTCCCG	0.622000													17	53					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874920	20874920	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:20874920G>A	ENST00000381552.1	+	8	1326	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D320N|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D320N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D271N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D202N			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	320					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTTTATTATAGATGATCACAC	0.358000													9	36					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912764	150912764	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150912764G>A	ENST00000329903.4	+	6	1822	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	597					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGTCGACGTGCAGGAGAA	0.577000													5	420					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111318996	111318996	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:111318996G>A	ENST00000308208.5	+	7	991	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	CCDC63_ENST00000545036.1_Missense_Mutation_p.R210Q|CCDC63_ENST00000552694.1_Missense_Mutation_p.R171Q|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	250										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGGAGATCCGAGAGCTGGAG	0.557000													9	19					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38793935	38793935	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:38793935C>A	ENST00000359357.3	+	27	3454	c.3200C>A	c.(3199-3201)cCg>cAg	p.P1067Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.P1067Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P1284Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCATCAGAGCCGATGAAATTG	0.363000													3	108					1	1	1	1	0
THAP4	51078	broad.mit.edu	37	2	242572694	242572694	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:242572694G>A	ENST00000407315.1	-	2	1309	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	293							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGGCTTCTGCGGTGTCGCGGT	0.657000													4	46					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407073	150407073	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:150407073A>T	ENST00000388825.4	+	4	532	c.440A>T	c.(439-441)aAa>aTa	p.K147I	GPX3_ENST00000517973.1_Missense_Mutation_p.N96Y	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	147					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	AAAGAGCAGAAATTCTACACT	0.537000													13	78					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23306177	23306177	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:23306177G>T	ENST00000258733.4	+	7	1355	c.1060G>T	c.(1060-1062)Gat>Tat	p.D354Y	GPNMB_ENST00000539136.1_Missense_Mutation_p.D255Y|GPNMB_ENST00000453162.2_Missense_Mutation_p.D308Y|GPNMB_ENST00000381990.2_Missense_Mutation_p.D366Y			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	366				A -> T (in Ref. 3; AAQ89481).	negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TAGGATTCCTGATGAAAACTG	0.443000													8	54					3.09899e-07	3.75877e-07	1	1	0
ZNF670	93474	broad.mit.edu	37	1	247200916	247200916	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:247200916T>C	ENST00000366503.2	-	4	1163	c.1005A>G	c.(1003-1005)aaA>aaG	p.K335K		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATCCATAAGGTTTCACTCCAG	0.403000													38	86					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491447	62491447	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:62491447C>A	ENST00000301785.5	-	3	882	c.690G>T	c.(688-690)ctG>ctT	p.L230L	RP11-831H9.16_ENST00000403734.2_Silent_p.L230L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	230	B30.2/SPRY.|Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCAGGAGGCAGTGGAGACT	0.403000													33	84					6.2361e-21	8.08543e-21	1	1	0
MID1IP1	58526	broad.mit.edu	37	X	38664687	38664687	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:38664687G>T	ENST00000336949.6	+	2	1433	c.488G>T	c.(487-489)cGc>cTc	p.R163L	MID1IP1_ENST00000378474.3_Missense_Mutation_p.R163L|MID1IP1_ENST00000457894.1_Missense_Mutation_p.R163L	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	163					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						AAACTCACGCGCAAAGCCAAC	0.617000													5	48					1.024e-07	1.25825e-07	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327047	152327047	+	Missense_Mutation	SNP	C	C	T	rs140245320	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152327047C>T	ENST00000388718.5	-	3	3287	c.3215G>A	c.(3214-3216)cGt>cAt	p.R1072H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGA	0.473000													50	502					0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29580865	29580865	+	Silent	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:29580865T>A	ENST00000375500.3	+	2	264	c.207T>A	c.(205-207)acT>acA	p.T69T		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	23					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AAATCTACACTCGTTGCAAAC	0.532000													5	75					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4864398	4864398	+	Silent	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:4864398T>G	ENST00000379333.1	-	9	1106	c.714A>C	c.(712-714)ctA>ctC	p.L238L	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.L238L|SLC23A2_ENST00000424750.2_Intron	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	238					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGTACTTCAGTAGAGCCCCAG	0.582000													40	77					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948731	83948731	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:83948731G>C	ENST00000262430.4	+	5	1138	c.1119G>C	c.(1117-1119)gaG>gaC	p.E373D	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	373					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCATTAACGAGACCCTCAAGC	0.567000													5	83					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350722	65350722	+	Silent	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:65350722T>A	ENST00000284037.5	+	21	3965	c.3576T>A	c.(3574-3576)gtT>gtA	p.V1192V	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Silent_p.V1192V|ERBB2IP_ENST00000506030.1_Silent_p.V1192V|ERBB2IP_ENST00000511297.1_Silent_p.V1188V|ERBB2IP_ENST00000380939.2_Silent_p.V1192V|ERBB2IP_ENST00000380938.2_Silent_p.V1192V|ERBB2IP_ENST00000380943.2_Silent_p.V1192V|ERBB2IP_ENST00000380936.1_Silent_p.V1192V|ERBB2IP_ENST00000380935.1_Silent_p.V1192V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1192					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAAGTAAAGTTCCTCGTGACT	0.338000													50	73					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69624620	69624620	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:69624620A>G	ENST00000374403.3	+	25	2928	c.2846A>G	c.(2845-2847)gAg>gGg	p.E949G	KIF4A_ENST00000374388.3_Missense_Mutation_p.E949G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	949	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGCAGTTAGAGGAATCAGTC	0.483000													11	29					0	0	1	0	0
PSMD13	5719	broad.mit.edu	37	11	251910	251910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:251910C>T	ENST00000532097.1	+	12	1513	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	PSMD13_ENST00000352303.5_Nonsense_Mutation_p.Q310*|PSMD13_ENST00000431206.2_Nonsense_Mutation_p.Q339*|PSMD13_ENST00000532025.1_3'UTR	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	337					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GACCTGGGTGCAGCCCCGAGT	0.502000													4	273					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	232					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231643	142231643	+	RNA	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:142231643C>A	ENST00000390364.3	-	0	341																											AGGGGGAGGTCCTCTGTGTTT	0.532000													10	215					1.76689e-08	2.18537e-08	1	1	0
POTEE	445582	broad.mit.edu	37	2	132020982	132020982	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:132020982C>T	ENST00000356920.5	+	15	2048	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	652							ATP binding										TAGTACGTTGCGGGAAGAAAT	0.353000													3	22					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17745772	17745772	+	Silent	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:17745772G>A	ENST00000380060.3	+	6	3821	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	NHS_ENST00000398097.3_Silent_p.P1005P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1161						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGATTAGGCCGCATACAGCAA	0.408000													5	465					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57106799	57106799	+	Silent	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr18:57106799C>G	ENST00000439986.4	-	9	964	c.927G>C	c.(925-927)ggG>ggC	p.G309G	CCBE1_ENST00000398179.2_Silent_p.G38G	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	309	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TTCCTGGTGCCCCTGGTGGAC	0.408000													4	348					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132998475	132998475	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:132998475T>A	ENST00000254624.5	+	17	2129	c.1904T>A	c.(1903-1905)tTt>tAt	p.F635Y	EFR3A_ENST00000519656.1_Missense_Mutation_p.F599Y|EFR3A_ENST00000334503.4_Missense_Mutation_p.F635Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	635						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCCCCTTATTTTCTACCAGAG	0.313000													11	19					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43465114	43465114	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:43465114G>C	ENST00000039989.4	+	17	2505	c.2491G>C	c.(2491-2493)Gat>Cat	p.D831H	TTC17_ENST00000299240.6_Missense_Mutation_p.D888H|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	831							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGAAGTGAAGATGATGAAGC	0.468000													3	142					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222170	53222170	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:53222170C>A	ENST00000375401.3	-	26	5194	c.4662G>T	c.(4660-4662)caG>caT	p.Q1554H	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1551H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1553H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1510H|KDM5C_ENST00000452825.3_Intron	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1554					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCTGAGGCGGCTGCTGTGGGC	0.617000			"""N, F, S"""		clear cell renal carcinoma								3	69					0.00909568	0.00994179	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	74043222	74043222	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:74043222T>G	ENST00000358602.4	-	2	538	c.422A>C	c.(421-423)gAt>gCt	p.D141A	ANKRD17_ENST00000509867.2_Missense_Mutation_p.D28A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.D141A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	141					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTCCAAATCATCCTGATC	0.428000													51	100					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57918128	57918128	+	Silent	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:57918128G>T	ENST00000355673.3	+	3	398	c.42G>T	c.(40-42)ggG>ggT	p.G14G	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Silent_p.G14G	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	14	MBD.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAGAGCTGGGGGCCCTGTGG	0.582000													3	40					0.115264	0.121059	1	1	0
EIF3J	8669	broad.mit.edu	37	15	44853257	44853257	+	Silent	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:44853257A>T	ENST00000261868.5	+	8	825	c.687A>T	c.(685-687)ggA>ggT	p.G229G	EIF3J_ENST00000424492.3_Silent_p.G180G|EIF3J_ENST00000535391.1_Silent_p.G175G	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	229						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGGTTCCTGGAGGGGGATTAA	0.393000													82	250					0	0	1	0	0
TIAF1	9220	broad.mit.edu	37	17	27400913	27400913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:27400913C>T	ENST00000359450.6	-	1	4962	c.305G>A	c.(304-306)gGt>gAt	p.G102D	TIAF1_ENST00000408971.2_Missense_Mutation_p.G102D|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	102					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGGTCCAGACCACCTGGACA	0.488000													21	280					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608123	4608123	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:4608123G>A	ENST00000312614.4	+	1	103	c.81G>A	c.(79-81)atG>atA	p.M27I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTGTGATGCTGGGTCCAG	0.453000													9	208					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598423	52598423	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr13:52598423A>T	ENST00000521508.1	+	3	562	c.557A>T	c.(556-558)aAg>aTg	p.K186M	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CCTCTGTTTAAGTATATAGGG	0.388000													4	142					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33138433	33138433	+	Silent	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:33138433C>T	ENST00000373493.5	+	11	1302	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	RBBP4_ENST00000414241.3_Silent_p.S380S|RBBP4_ENST00000458695.2_Silent_p.S346S|RBBP4_ENST00000373485.1_Silent_p.S381S|RBBP4_ENST00000544435.1_Silent_p.S129S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	381					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTGATTTCTCCTGGAATCCCA	0.383000													9	73					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395204	158395204	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:158395204C>T	ENST00000243349.7	-	8	1597	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ACVR1C_ENST00000335450.7_Missense_Mutation_p.E333K|ACVR1C_ENST00000348328.5_Missense_Mutation_p.E256K|ACVR1C_ENST00000409680.3_Missense_Mutation_p.E363K	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	413	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AATTGGTACTCCTCAACAATT	0.338000													14	102					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505525	159505525	+	Silent	SNP	A	A	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:159505525A>G	ENST00000334857.2	-	1	317	c.273T>C	c.(271-273)ccT>ccC	p.P91P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCAAGGAGATAGGTTGGTTAT	0.443000													133	200					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31902109	31902109	+	Silent	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:31902109C>A	ENST00000418949.2	+	6	932	c.882C>A	c.(880-882)ggC>ggA	p.G294G	C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Intron					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GCAGCAGAGGCCTTCCTGTGC	0.537000													4	87					0.014758	0.0159454	1	1	0
MCM8	84515	broad.mit.edu	37	20	5933143	5933143	+	Silent	SNP	A	A	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:5933143A>C	ENST00000378896.3	+	3	599	c.222A>C	c.(220-222)ccA>ccC	p.P74P	MCM8_ENST00000378886.2_Silent_p.P74P|MCM8_ENST00000378883.1_Silent_p.P74P|MCM8_ENST00000265187.4_Silent_p.P74P	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	74					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GATTCATACCATATAAAGGCT	0.343000													16	139					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47688691	47688691	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:47688691G>C	ENST00000393331.3	-	8	1079	c.609C>G	c.(607-609)tgC>tgG	p.C203W	SPOP_ENST00000503676.1_Missense_Mutation_p.C203W|SPOP_ENST00000393328.2_Missense_Mutation_p.C203W|SPOP_ENST00000347630.2_Missense_Mutation_p.C203W|SPOP_ENST00000504102.1_Missense_Mutation_p.C203W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	203	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAACACACAAGCAGCAGTCTG	0.458000										Prostate(2;0.17)			5	259					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88983082	88983082	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:88983082G>A	ENST00000237596.2	+	10	2110	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.D100N|PKD2_ENST00000502363.1_Missense_Mutation_p.D100N	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	682						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TATCATCAATGATACTTACTC	0.323000													5	119					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50129521	50129521	+	RNA	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:50129521T>A	ENST00000376025.2	-	0	2241							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCAGCAGAAGTAGCTGCTGCC	0.458000													60	125					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													4	298					0.00909568	0.00994179	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262083	140262083	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:140262083T>A	ENST00000289272.2	+	1	230	c.230T>A	c.(229-231)gTa>gAa	p.V77E	PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V77E|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGGAGGTAAATCTGCAG	0.622000													41	182					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818764	26818764	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:26818764G>A	ENST00000444914.3	+	6	1339	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	SLC13A2_ENST00000545060.1_Missense_Mutation_p.G215S|SLC13A2_ENST00000314669.5_Missense_Mutation_p.G258S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G187S	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	258						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.G258S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCCCAAAACGGCAACGTGGT	0.597000													3	67					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32664671	32664671	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:32664671G>T	ENST00000421745.2	+	16	3861	c.3727G>T	c.(3727-3729)Gta>Tta	p.V1243L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1243					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATGCGTCCTGTAGTAAGGCT	0.413000													4	93					0.000602214	0.000682026	1	1	0
CCNB2	9133	broad.mit.edu	37	15	59409486	59409486	+	Silent	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:59409486T>C	ENST00000288207.2	+	7	1085	c.894T>C	c.(892-894)taT>taC	p.Y298Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	298					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCATCGACTATGATATGGTGC	0.423000													11	319					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593617	137593617	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr5:137593617C>A	ENST00000274721.3	-	4	742	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	GFRA3_ENST00000378362.3_Missense_Mutation_p.A135S	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	166					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.A166T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACAGCATGGCAAACTTGAGG	0.652000													3	70					1	1	1	1	0
DUSP26	78986	broad.mit.edu	37	8	33449703	33449703	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:33449703C>G	ENST00000256261.4	-	4	981	c.464G>C	c.(463-465)gGc>gCc	p.G155A	DUSP26_ENST00000523956.1_Missense_Mutation_p.G155A	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	155	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCGGCTCACGCCCACAGCACA	0.577000													13	15					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68160421	68160421	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:68160421G>A	ENST00000349223.5	+	3	1533	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	NFATC3_ENST00000329524.4_Missense_Mutation_p.V437M|NFATC3_ENST00000346183.3_Missense_Mutation_p.V437M|NFATC3_ENST00000575270.1_Missense_Mutation_p.V437M|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	437	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAAATAGAAGTGCAACCTAA	0.433000													46	76					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28651878	28651878	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:28651878G>C	ENST00000328886.4	-	4	668	c.596C>G	c.(595-597)tCa>tGa	p.S199*	TMIGD1_ENST00000538566.2_Nonsense_Mutation_p.S199*	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	199	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTTCAGAGATGACTTTGCAAT	0.428000													14	242					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636477	42636477	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:42636477C>A	ENST00000315323.3	+	1	1553	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	474					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGCCCGCCACCATCGTCATC	0.632000													8	30					3.86212e-05	4.53799e-05	1	1	0
PATL1	219988	broad.mit.edu	37	11	59425092	59425092	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:59425092T>C	ENST00000300146.9	-	5	616	c.532A>G	c.(532-534)Act>Gct	p.T178A		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	178	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATAGGTGAAGTTGACCGCCTT	0.527000													67	120					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031946	94031946	+	Missense_Mutation	SNP	A	A	G	rs61745072	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:94031946A>G	ENST00000282020.4	+	4	835	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	GRID2_ENST00000510992.1_Missense_Mutation_p.M98V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	193					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCAGCAGGGAATGGATGTTGC	0.393000													12	149					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													10	378	---	---	---	---					
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:89448604_89448605insGG	ENST00000399794.2	-	3	1620_1621	c.905_906insCC	c.(904-906)ctcfs	p.L302fs	RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.						nucleotide binding|RNA binding										CACCATAAGATGGCGGGGGCCC	0.475													8	333	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152279034	152279035	+	In_Frame_Ins	INS	-	-	TGC			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr1:152279034_152279035insTGC	ENST00000368799.1	-	3	8362_8363	c.8327_8328insGCA	c.(8326-8328)ctc>cGCAtc	p.2776_2776L>RI	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2776	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGATGCTGAGTGCCTGGAGCT	0.589									Ichthyosis				12	481	---	---	---	---					
MAP2	4133	broad.mit.edu	37	2	210559316	210559317	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:210559316_210559317insA	ENST00000360351.4	+	7	2928_2929	c.2422_2423insA	c.(2422-2424)aatfs	p.N808fs	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.N804fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	808					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGACCTTCCTGAAATGCTAGAT	0.465													18	187	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	RNA	INS	-	-	AAA	rs71401156		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr2:217475031_217475032insAAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376													4	6	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	247254	247255	+	RNA	DEL	TA	TA	-	rs34738994		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:247254_247255delTA	ENST00000356347.3	+	0	172					NR_027481.1																						TTTGTATAAGTATATATATATT	0.287													4	2	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													10	450	---	---	---	---					
JARID2	3720	broad.mit.edu	37	6	15496635	15496636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:15496635_15496636insG	ENST00000341776.2	+	7	1423_1424	c.1179_1180insG	c.(1177-1182)ctggggfs	p.LG393fs	JARID2_ENST00000541660.1_Frame_Shift_Ins_p.LG355fs|JARID2_ENST00000397311.3_Frame_Shift_Ins_p.LG221fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574													7	85	---	---	---	---					
RWDD2A	112611	broad.mit.edu	37	6	83904237	83904237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr6:83904237delT	ENST00000369724.4	+	2	272	c.67delT	c.(67-69)ttfs	p.F23fs	RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	23	RWD.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTTTTCTATGTTTCCTAACCA	0.458													13	36	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													9	162	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													8	183	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89499215	89499215	+	RNA	DEL	T	T	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:89499215delT	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							GTTCTGGAAGTTTTTTTTTTT	0.313													9	92	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113694819	113694826	+	Frame_Shift_Del	DEL	TGCATTGA	TGCATTGA	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr8:113694819_113694826delTGCATTGA	ENST00000297405.5	-	16	2766_2773	c.2522_2529delTCAATGCA	c.(2521-2529)afs	p.INA841fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.INA841fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.INA801fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.INA737fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	841	Sushi 4.					integral to membrane|plasma membrane		p.I841M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCGCCGTGCATTGATTGGTATTCC	0.356										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	127	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30315600	30315600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr10:30315600delA	ENST00000375377.1	-	3	3578	c.3477delT	c.(3475-3477)ttfs	p.F1159fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1159										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCCCTACAAAGAGAGGGC	0.602													12	146	---	---	---	---					
PRCP	5547	broad.mit.edu	37	11	82550318	82550319	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr11:82550318_82550319delCA	ENST00000313010.3	-	7	1264_1265	c.1070_1071delTG	c.(1069-1071)cfs	p.L357fs	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Frame_Shift_Del_p.L252fs|PRCP_ENST00000393399.2_Frame_Shift_Del_p.L378fs	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	357					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGCTCCAACCCAGTGTTCCCAG	0.386													9	201	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													12	34	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													9	155	---	---	---	---					
SPIC	121599	broad.mit.edu	37	12	101876667	101876668	+	Frame_Shift_Ins	INS	-	-	G	rs140414335	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr12:101876667_101876668insG	ENST00000551346.1	+	5	467_468	c.308_309insG	c.(307-309)aggfs	p.R103fs	SPIC_ENST00000299272.5_Frame_Shift_Ins_p.R103fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTCCAGCAAAAGGGGGGAAAAG	0.396													7	170	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(163-168)ggccccfs	p.GP55fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	55					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535													10	170	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102510938	102510938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr14:102510938delG	ENST00000360184.4	+	72	13073	c.12909delG	c.(12907-12909)gafs	p.E4304fs	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4304					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTAGGCGAGAGGAGTTTGTGC	0.577													22	160	---	---	---	---					
TLE3	7090	broad.mit.edu	37	15	70348690	70348691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr15:70348690_70348691insG	ENST00000558939.1	-	14	2660_2661	c.1283_1284insC	c.(1282-1284)catfs	p.H428fs	TLE3_ENST00000440567.3_Frame_Shift_Ins_p.H418fs|TLE3_ENST00000317509.8_Frame_Shift_Ins_p.H416fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.H355fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.H425fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.H434fs|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.H420fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.H420fs|TLE3_ENST00000559191.1_Frame_Shift_Ins_p.H9fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.H372fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.H428fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.H438fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.H420fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.H430fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.H423fs			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	428	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGCCCGCATCGGGGGGTGAGG	0.609													9	177	---	---	---	---					
TEKT5	146279	broad.mit.edu	37	16	10721462	10721462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:10721462delG	ENST00000283025.2	-	7	1507	c.1436delC	c.(1435-1437)cgfs	p.P479fs	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	479					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P479L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CACCAGGCGCGGGGTGCAGGG	0.572													10	122	---	---	---	---					
CPPED1	55313	broad.mit.edu	37	16	12798724	12798725	+	Frame_Shift_Ins	INS	-	-	G	rs145004672	by1000genomes	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:12798724_12798725insG	ENST00000381774.4	-	3	711_712	c.471_472insC	c.(469-474)ggtcctfs	p.P158fs	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	158							hydrolase activity|metal ion binding	p.V158I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGGAACAGGACGCCCCCGACCC	0.609													41	151	---	---	---	---					
PRRT2	112476	broad.mit.edu	37	16	29825015	29825016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr16:29825015_29825016insC	ENST00000300797.6	+	2	814_815	c.640_641insC	c.(640-642)cccfs	p.P214fs	PRRT2_ENST00000567659.1_Frame_Shift_Ins_p.P214fs|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Ins_p.P214fs|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.			A -> AP (in Ref. 3; CAD38881).	response to biotic stimulus	integral to membrane		p.R217fs*12(1)|p.A214P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AGCCAATGGGGCCCCCCCCCGA	0.653													2	4	---	---	---	---					
SNORD3A	780851	broad.mit.edu	37	17	19091512	19091517	+	RNA	DEL	GGGAGT	GGGAGT	-			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:19091512_19091517delGGGAGT	ENST00000365494.1	+	0	184_189																											ctccgtattggggagtgagagggaga	0.539													17	91	---	---	---	---					
SEZ6	124925	broad.mit.edu	37	17	27296913	27296914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:27296913_27296914insC	ENST00000317338.12	-	4	1343_1344	c.915_916insG	c.(913-918)ggctgafs	p.*306fs	SEZ6_ENST00000442608.3_Frame_Shift_Ins_p.*306fs|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Frame_Shift_Ins_p.*306fs|SEZ6_ENST00000360295.9_Frame_Shift_Ins_p.*306fs			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	306						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGTGGGTCAGGCCCCCCCAGGC	0.614													7	44	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71394281	71394282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr17:71394281_71394282insG	ENST00000392650.3	-	24	3246_3247	c.3246_3247insC	c.(3244-3249)ccgtcafs	p.S1083fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.S1083fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1083	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTGG	0.619													7	45	---	---	---	---					
PPP6R1	22870	broad.mit.edu	37	19	55742196	55742197	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr19:55742196_55742197insG	ENST00000412770.2	-	22	3081_3082	c.2515_2516insC	c.(2515-2517)gacfs	p.D839fs	PPP6R1_ENST00000587283.1_Frame_Shift_Ins_p.D839fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	839	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TTCTGTGGTCTGGGGGGGCTGG	0.703													4	9	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													9	267	---	---	---	---					
TCP10L	140290	broad.mit.edu	37	21	33949090	33949091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr21:33949090_33949091insC	ENST00000300258.3	-	5	754_755	c.641_642insG	c.(640-642)ggtfs	p.G214fs	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						ATCTTCAGACACCCCCCCGTCT	0.480													10	89	---	---	---	---					
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)ggtgaafs	p.E465fs	CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564													7	262	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				8	479	---	---	---	---					
LAMP2	3920	broad.mit.edu	37	X	119575704	119575705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:119575704_119575705insG	ENST00000371335.4	-	8	1109_1110	c.973_974insC	c.(973-975)gggfs	p.G325fs	LAMP2_ENST00000538785.1_Frame_Shift_Ins_p.G214fs|LAMP2_ENST00000434600.2_Frame_Shift_Ins_p.G325fs|LAMP2_ENST00000200639.4_Frame_Shift_Ins_p.G325fs|LAMP2_ENST00000540603.1_Frame_Shift_Ins_p.G278fs	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	325	Second lumenal domain.			DAPLG -> MPP (in Ref. 1; AAA60383).	platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGAACTTCCCAGGGGGGCATCC	0.391													7	310	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3331-01A-01W-0886-08	TCGA-A3-3331-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c765f5-8226-4c2a-b6c5-8fe71013ea7b	3f126344-bcdc-485e-b31b-7656298aa2d6	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1939-1944)ggccccfs	p.GP647fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	647						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTATCAAGGGCCCCCCGTGAA	0.455													9	315	---	---	---	---