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
C4orf50	389197	broad.mit.edu	37	4	5961272	5961272	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:5961272G>A	ENST00000531445.1	-	7	2129	c.2083C>T	c.(2083-2085)Cgt>Tgt	p.R695C	C4orf50_ENST00000324058.5_Missense_Mutation_p.R221C			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	221										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TCTTGCAGACGTTGTGCGGGG	0.587000													21	32					0	0	0.010504	0	0
INADL	10207	broad.mit.edu	37	1	62234980	62234980	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:62234980T>C	ENST00000371158.2	+	5	524	c.410T>C	c.(409-411)aTa>aCa	p.I137T	INADL_ENST00000316485.6_Missense_Mutation_p.I137T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	137	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TATATAGATATAGAACGGCCT	0.428000													9	32					0	0	0.004482	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912582	101912582	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:101912582T>C	ENST00000537097.1	+	6	4554	c.3741T>C	c.(3739-3741)taT>taC	p.Y1247Y	GPRASP1_ENST00000444152.1_Silent_p.Y1247Y|GPRASP1_ENST00000415986.1_Silent_p.Y1247Y|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.Y1247Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1247	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCCTTGCTTATAGCGTGGATT	0.408000													27	61					0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13830247	13830247	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:13830247G>C	ENST00000265104.4	-	37	6241	c.6137C>G	c.(6136-6138)gCc>gGc	p.A2046G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2046	AAA 1 (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)					AATTTGCTGGGCTGCAACCGA	0.383000									Kartagener syndrome				20	20					0	0	0.012319	0	0
TBC1D32	221322	broad.mit.edu	37	6	121615732	121615732	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:121615732T>C	ENST00000275159.6	-	11	1214	c.1215A>G	c.(1213-1215)ggA>ggG	p.G405G	TBC1D32_ENST00000398212.2_Silent_p.G405G					TBC1 domain family, member 32																		GCTTTGAATGTCCCAAAGTTT	0.279000													58	74					0	0	0.014410	0	0
CCDC105	126402	broad.mit.edu	37	19	15132682	15132682	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:15132682A>G	ENST00000292574.3	+	6	1284	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	401					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTTCGCATGTACCAGAGACAC	0.632000													15	34					0	0	0.006122	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779508	205779508	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:205779508G>A	ENST00000367137.3	-	2	1076	c.62C>T	c.(61-63)tCt>tTt	p.S21F		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	21						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGCAGGGAGAGGCAGAAGG	0.612000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	39					0	0	0.003954	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913176	29913176	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:29913176T>C	ENST00000308748.5	+	1	1136	c.884T>C	c.(883-885)cTc>cCc	p.L295P	ASPHD1_ENST00000483405.1_Missense_Mutation_p.L14P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	295					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TTTTCCGTTCTCCTGCCTGGG	0.657000													14	16					0	0	0.004990	0	0
RELN	5649	broad.mit.edu	37	7	103179606	103179606	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:103179606T>C	ENST00000428762.1	-	45	7258	c.7099A>G	c.(7099-7101)Agc>Ggc	p.S2367G	RELN_ENST00000343529.5_Missense_Mutation_p.S2367G|RELN_ENST00000424685.2_Missense_Mutation_p.S2367G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2367					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACGTCTGTGCTGACCACGTAA	0.542000													3	45					0	0	0.004672	0	0
UNC13C	440279	broad.mit.edu	37	15	54305533	54305533	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:54305533A>G	ENST00000545554.1	+	1	433	c.433A>G	c.(433-435)Aca>Gca	p.T145A	UNC13C_ENST00000260323.11_Missense_Mutation_p.T145A|UNC13C_ENST00000537900.1_Missense_Mutation_p.T145A			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	145					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACAATCAACACACACAAT	0.458000													4	87					0	0	0.009096	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													7	67					0.00198382	0.00336496	0.001984	1	0
DKKL1	27120	broad.mit.edu	37	19	49867878	49867878	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:49867878T>C	ENST00000221498.2	+	2	455	c.50T>C	c.(49-51)cTg>cCg	p.L17P	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	17					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTGCTGGTCCTGCTGCTGCTC	0.677000													3	55					0	0	0.009096	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673155	125673155	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:125673155C>G	ENST00000373659.3	-	2	1285	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AGGTTAAGTGCTTTTTGAGAG	0.413000													4	37					0	0	0.000602	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223543	154223543	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:154223543G>A	ENST00000428931.1	+	13	1407	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	UBAP2L_ENST00000271877.7_Missense_Mutation_p.V425M|UBAP2L_ENST00000343815.6_Missense_Mutation_p.V414M|UBAP2L_ENST00000361546.2_Missense_Mutation_p.V414M	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	414					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATTCAGCAGTGCACAGCCC	0.483000													32	54					0	0	0.009535	0	0
STK36	27148	broad.mit.edu	37	2	219543897	219543897	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219543897C>T	ENST00000295709.3	+	7	970	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	STK36_ENST00000440309.1_Silent_p.L231L|STK36_ENST00000392106.2_Silent_p.L231L|STK36_ENST00000392105.3_Silent_p.L231L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	231	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GTAGAACTTCCTGCAGGGACT	0.478000													39	85					0	0	0.006230	0	0
TUBA3E	112714	broad.mit.edu	37	2	130949610	130949610	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:130949610C>T	ENST00000312988.7	-	5	1247	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	383					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCCGCAATGGCCGTGGTGTTG	0.632000													48	84					0	0	0.014410	0	0
ALG10B	144245	broad.mit.edu	37	12	38712166	38712166	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38712166C>T	ENST00000308742.4	+	2	591	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ALG10B_ENST00000551464.1_Missense_Mutation_p.S92F	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	92					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTTGTCTGCTCCATTGGGATG	0.418000													7	98					0	0	0.003080	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789522	117789522	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:117789522C>G	ENST00000528626.1	-	2	126	c.53G>C	c.(52-54)gGa>gCa	p.G18A	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G18A|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G18A|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G18A|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G18A	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	18	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCTCCAGCTGAAGG	0.617000													13	24					0	0	0.002450	0	0
NR0B1	190	broad.mit.edu	37	X	30326947	30326947	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:30326947C>T	ENST00000378970.4	-	1	768	c.534G>A	c.(532-534)gcG>gcA	p.A178A	NR0B1_ENST00000453287.1_Silent_p.A178A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	178	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CTGGCCTCTGCGCGAAGTAGG	0.677000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	9					0	0	0.010729	0	0
UPF2	26019	broad.mit.edu	37	10	12001352	12001352	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:12001352G>T	ENST00000356352.2	-	11	2661	c.2188C>A	c.(2188-2190)Caa>Aaa	p.Q730K	UPF2_ENST00000397053.2_Missense_Mutation_p.Q730K|UPF2_ENST00000357604.5_Missense_Mutation_p.Q730K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	730	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTCATCATTTGCTCCTGAAAT	0.363000													9	27					3.09899e-07	5.464e-07	0.004482	1	0
TAF1L	138474	broad.mit.edu	37	9	32631631	32631631	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:32631631T>A	ENST00000242310.4	-	1	4036	c.3947A>T	c.(3946-3948)gAa>gTa	p.E1316V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1316					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCTGCTCTTCTGTCATGGC	0.428000													119	39					0	0	0.014410	0	0
RC3H1	149041	broad.mit.edu	37	1	173915954	173915954	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:173915954G>A	ENST00000367696.2	-	16	3109	c.2758C>T	c.(2758-2760)Cac>Tac	p.H920Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.H920Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.H920Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	920					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGCCACCGTGGGTTCCATAT	0.368000													16	35					0	0	0.006122	0	0
PNISR	25957	broad.mit.edu	37	6	99848618	99848618	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:99848618T>A	ENST00000369239.5	-	12	2420	c.2216A>T	c.(2215-2217)gAt>gTt	p.D739V	PNISR_ENST00000438806.1_Missense_Mutation_p.D739V	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	739	Ser-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTCTTACTATCCTGTCTAGA	0.353000													44	80					0	0	0.008740	0	0
NUDT19	390916	broad.mit.edu	37	19	33200149	33200149	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:33200149C>G	ENST00000397061.3	+	2	773	c.773C>G	c.(772-774)cCc>cGc	p.P258R		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	258	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TGGTTGCCACCCCCACAGTTC	0.433000													29	229					0	0	0.006320	0	0
FCRL4	83417	broad.mit.edu	37	1	157559108	157559108	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:157559108C>T	ENST00000271532.1	-	3	328	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	65	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTCAACTTTTCTCCCCAGTAG	0.517000													8	53					0	0	0.006214	0	0
ELL2	22936	broad.mit.edu	37	5	95242283	95242283	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:95242283G>T	ENST00000237853.4	-	5	1034	c.685C>A	c.(685-687)Cag>Aag	p.Q229K	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	229					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CCATCTTTCTGGAGTCTAGCA	0.502000													14	122					4.3838e-07	7.67881e-07	0.001855	1	0
ANGPTL6	83854	broad.mit.edu	37	19	10204170	10204170	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:10204170G>A	ENST00000253109.4	-	5	1315	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	ANGPTL6_ENST00000592641.1_Silent_p.A359A|ANGPTL6_ENST00000589181.1_Silent_p.A319A	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	359	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CATCATAGTGGGCACGTGCTC	0.612000													15	31					0	0	0.003163	0	0
USP19	10869	broad.mit.edu	37	3	49154907	49154907	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49154907G>T	ENST00000453664.1	-	5	887	c.569C>A	c.(568-570)cCc>cAc	p.P190H	USP19_ENST00000398888.2_Missense_Mutation_p.P190H|USP19_ENST00000398892.3_Missense_Mutation_p.P128H|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398898.2_Missense_Mutation_p.P128H|USP19_ENST00000417901.1_Missense_Mutation_p.P190H|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000434032.2_Missense_Mutation_p.P190H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	190	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCTTTTTGGGCAGTGTCAG	0.552000													31	10					1.75199e-13	3.23815e-13	0.007291	1	0
FAM58A	92002	broad.mit.edu	37	X	152860037	152860037	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:152860037G>T	ENST00000406277.2	-	5	493	c.391C>A	c.(391-393)Cgc>Agc	p.R131S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	133					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAAGCGCAGAACTCTC	0.537000													8	98					5.18039e-06	8.95706e-06	0.003080	1	0
GPR42	2866	broad.mit.edu	37	19	35862398	35862398	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:35862398G>A	ENST00000454971.1	+	2	338	c.137G>A	c.(136-138)cGc>cAc	p.R46H	GPR42_ENST00000597214.1_Missense_Mutation_p.R46H					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCGGTGCCGCCCGGTGGCC	0.637000													81	11					0	0	0.014410	0	0
FBN2	2201	broad.mit.edu	37	5	127670501	127670501	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:127670501T>A	ENST00000508053.1	-	37	4983	c.4009A>T	c.(4009-4011)Atg>Ttg	p.M1337L	FBN2_ENST00000262464.4_Missense_Mutation_p.M1337L|FBN2_ENST00000507835.1_Missense_Mutation_p.M187L|FBN2_ENST00000508989.1_Missense_Mutation_p.M1304L			P35556	FBN2_HUMAN	fibrillin 2	1337	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCCCAAACATGCAGATATTT	0.378000													27	37					0	0	0.005443	0	0
TDRD6	221400	broad.mit.edu	37	6	46656253	46656253	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:46656253G>A	ENST00000544460.1	+	1	642	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	TDRD6_ENST00000316081.6_Missense_Mutation_p.V130M	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	130					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)			GCTGGGCTGCGTGCTAGCGGG	0.706000													5	6					0	0	0.001984	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128809	248128809	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:248128809T>C	ENST00000366480.3	+	1	275	c.176T>C	c.(175-177)aTg>aCg	p.M59T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATATCATGCTGATCCAC	0.448000													18	221					0	0	0.008871	0	0
ZNF592	9640	broad.mit.edu	37	15	85333936	85333936	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:85333936A>G	ENST00000299927.3	+	2	2243	c.2220_splice	c.e2-1	p.T741_splice	ZNF592_ENST00000560079.2_Splice_Site_p.T741_splice			Q92610	ZN592_HUMAN	zinc finger protein 592	741					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTTCCTAGACCTGCCAGGT	0.552000													29	64					0	0	0.007291	0	0
PIGB	9488	broad.mit.edu	37	15	55626120	55626120	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:55626120A>C	ENST00000164305.5	+	6	1000	c.709A>C	c.(709-711)Att>Ctt	p.I237L	PIGB_ENST00000539642.1_Missense_Mutation_p.I42L	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	237					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CACAGCTGTCATTCTGTGGAC	0.398000													7	43					0	0	0.001984	0	0
RET	5979	broad.mit.edu	37	10	43604571	43604571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:43604571G>A	ENST00000355710.3	+	6	1388	c.1156G>A	c.(1156-1158)Gcg>Acg	p.A386T	RET_ENST00000340058.5_Missense_Mutation_p.A386T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	386					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGGCCCAGGAGCGGGCGTCCT	0.632000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				20	23					0	0	0.007413	0	0
NEDD1	121441	broad.mit.edu	37	12	97337517	97337517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:97337517G>T	ENST00000266742.4	+	12	1813	c.1474G>T	c.(1474-1476)Gaa>Taa	p.E492*	NEDD1_ENST00000429527.2_Nonsense_Mutation_p.E492*|NEDD1_ENST00000557644.1_Nonsense_Mutation_p.E499*|NEDD1_ENST00000457368.2_Nonsense_Mutation_p.E403*|NEDD1_ENST00000411739.2_Nonsense_Mutation_p.E403*	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	492					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GGGAAAACAGGAATCTAAAGA	0.383000													12	22					7.03913e-09	1.25766e-08	0.013537	1	0
KXD1	79036	broad.mit.edu	37	19	18675832	18675832	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:18675832G>A	ENST00000602094.1	+	3	1714		c.e3+1		KXD1_ENST00000222307.4_Splice_Site|KXD1_ENST00000599319.1_Splice_Site|KXD1_ENST00000598830.1_Splice_Site|KXD1_ENST00000540691.1_Splice_Site|KXD1_ENST00000601630.1_Splice_Site|KXD1_ENST00000595073.1_Splice_Site|KXD1_ENST00000599000.1_Splice_Site|KXD1_ENST00000539106.1_Splice_Site			Q9BQD3	CS050_HUMAN	KxDL motif containing 1								protein binding										GCCGTATCAGGTGGGTGCTCA	0.587000													32	44					0	0	0.004289	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410533	121410533	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:121410533G>T	ENST00000393667.3	-	14	7788	c.7678C>A	c.(7678-7680)Ctt>Att	p.L2560I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2555I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2555					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGAACTTCAAGAAGCTGCTTT	0.388000													88	66					3.1376e-36	6.04948e-36	0.014410	1	0
IRX4	50805	broad.mit.edu	37	5	1879828	1879828	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:1879828T>C	ENST00000505790.1	-	5	982	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	IRX4_ENST00000231357.2_Missense_Mutation_p.I176V|IRX4_ENST00000513692.1_Missense_Mutation_p.I176V|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	176					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCCAGCATGATCTTCTCGCCC	0.642000													35	53					0	0	0.004878	0	0
PRKD3	23683	broad.mit.edu	37	2	37501741	37501741	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:37501741T>A	ENST00000379066.1	-	11	2236	c.1474A>T	c.(1474-1476)Act>Tct	p.T492S	PRKD3_ENST00000234179.2_Missense_Mutation_p.T492S			O94806	KPCD3_HUMAN	protein kinase D3	492	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TATACCATAGTATCAGTAATG	0.423000													26	28					0	0	0.005443	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939610	43939610	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:43939610G>C	ENST00000396879.1	-	4	313	c.201C>G	c.(199-201)ttC>ttG	p.F67L	CATSPER2_ENST00000354127.4_Missense_Mutation_p.F67L|CATSPER2_ENST00000321596.5_Missense_Mutation_p.F67L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F67L|CATSPER2_ENST00000381761.1_Missense_Mutation_p.F73L|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_5'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	67					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTTTATAGAGAAACGCACTA	0.443000													52	59					0	0	0.014410	0	0
GRIK1	2897	broad.mit.edu	37	21	30934039	30934039	+	Silent	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:30934039G>T	ENST00000399914.1	-	14	2738	c.2217C>A	c.(2215-2217)tcC>tcA	p.S739S	GRIK1_ENST00000389125.3_Silent_p.S739S|GRIK1_ENST00000399907.1_Silent_p.S754S|GRIK1_ENST00000389124.2_Silent_p.S754S|GRIK1_ENST00000399913.1_Silent_p.S754S|GRIK1_ENST00000399909.1_Silent_p.S739S|GRIK1_ENST00000535441.1_Silent_p.S756S|GRIK1_ENST00000327783.4_Silent_p.S754S|GRIK1_ENST00000309434.7_Silent_p.S756S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	754					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAATGCTGGTGGACTCCATCA	0.542000													19	36					2.39187e-15	4.45154e-15	0.008871	1	0
GGA2	23062	broad.mit.edu	37	16	23480233	23480233	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:23480233T>C	ENST00000309859.4	-	16	1787	c.1705A>G	c.(1705-1707)Atg>Gtg	p.M569V	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	569	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AGCAGCAGCATCTGAGATATC	0.512000													29	39					0	0	0.008361	0	0
UBR4	23352	broad.mit.edu	37	1	19524242	19524242	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:19524242C>T	ENST00000375267.2	-	7	818	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R272Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R272Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R272Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	272					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCTTGGAACCGATTGATATA	0.443000													47	22					0	0	0.014410	0	0
ZNF646	9726	broad.mit.edu	37	16	31089215	31089215	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:31089215A>T	ENST00000394979.2	+	1	1993	c.1570A>T	c.(1570-1572)Atc>Ttc	p.I524F	ZNF646_ENST00000300850.5_Missense_Mutation_p.I524F			O15015	ZN646_HUMAN	zinc finger protein 646	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AAGTGCAGACATCGGGGCTGA	0.622000													10	16					0	0	0.006214	0	0
TRIM55	84675	broad.mit.edu	37	8	67039641	67039641	+	Silent	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:67039641G>T	ENST00000315962.4	+	1	511	c.138G>T	c.(136-138)ctG>ctT	p.L46L	TRIM55_ENST00000353317.5_Silent_p.L46L|TRIM55_ENST00000276573.7_Silent_p.L46L|TRIM55_ENST00000350034.4_Silent_p.L46L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	46						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGCACAACCTGTGTAGGAAAT	0.463000													5	206					2.7689e-08	4.91433e-08	0.001984	1	0
CD5L	922	broad.mit.edu	37	1	157805833	157805833	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:157805833C>A	ENST00000368174.4	-	3	264	c.168G>T	c.(166-168)aaG>aaT	p.K56N	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	56	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCACGTCCTTAATGTCCC	0.612000													6	167					0.00116845	0.00199454	0.001168	1	0
CACFD1	11094	broad.mit.edu	37	9	136333048	136333048	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr9:136333048C>T	ENST00000316948.4	+	4	406	c.326C>T	c.(325-327)gCg>gTg	p.A109V	CACFD1_ENST00000291722.7_Missense_Mutation_p.A67V|CACFD1_ENST00000540581.1_Missense_Mutation_p.A109V|CACFD1_ENST00000542192.1_Missense_Mutation_p.A67V	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	109						integral to membrane		p.A109V(1)									CCCAGGATGGCGGTCGTTCCC	0.637000													36	5					0	0	0.007835	0	0
PDK4	5166	broad.mit.edu	37	7	95224465	95224465	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:95224465C>A	ENST00000005178.5	-	2	339	c.142G>T	c.(142-144)Gca>Tca	p.A48S		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	48					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTCACATGCATTTTCTGAA	0.318000													10	25					0.000442599	0.000760363	0.006214	1	0
MORC3	23515	broad.mit.edu	37	21	37736544	37736544	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:37736544C>G	ENST00000400485.1	+	14	1682	c.1606C>G	c.(1606-1608)Cct>Gct	p.P536A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	536					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TCAGTCTGAACCTGAGAGCAA	0.398000													12	28					0	0	0.013537	0	0
NRCAM	4897	broad.mit.edu	37	7	107880402	107880402	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:107880402C>T	ENST00000379028.3	-	4	577		c.e4+1		NRCAM_ENST00000351718.4_Splice_Site|NRCAM_ENST00000425651.2_Splice_Site|NRCAM_ENST00000413765.2_Splice_Site|NRCAM_ENST00000379024.4_Splice_Site|NRCAM_ENST00000379022.4_Splice_Site			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAATACTTACGATCAAGAGG	0.453000													28	42					0	0	0.006320	0	0
POU6F2	11281	broad.mit.edu	37	7	39472771	39472771	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:39472771G>A	ENST00000518318.2	+	7	1164	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	POU6F2_ENST00000559001.1_Silent_p.Q319Q|POU6F2_ENST00000403058.1_Silent_p.Q374Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	374	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCCCCCAGCTCCTCACAA	0.587000													5	59					0	0	0.000602	0	0
NAV3	89795	broad.mit.edu	37	12	78513391	78513391	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:78513391C>A	ENST00000397909.2	+	15	3588	c.3415C>A	c.(3415-3417)Ccc>Acc	p.P1139T	NAV3_ENST00000228327.6_Missense_Mutation_p.P1139T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1139T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1139T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1139	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCGCAGCTTGCCCCGCCCTTC	0.512000										HNSCC(70;0.22)			23	51					3.01185e-09	5.41728e-09	0.003954	1	0
TCP10L	140290	broad.mit.edu	37	21	33951084	33951084	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:33951084G>A	ENST00000300258.3	-	4	531	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	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						GCGTATTTGGGTATTGTCTCT	0.433000													56	64					0	0	0.014410	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162172	90162172	+	RNA	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:90162172T>C	ENST00000564451.1	+	0	1525				TUBB8P7_ENST00000567960.1_RNA																							GATGGCTGCCTGTGACCCCCG	0.567000													4	87					0	0	0.003080	0	0
PRMT10	90826	broad.mit.edu	37	4	148559781	148559781	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:148559781C>T	ENST00000322396.6	-	12	2682	c.2440G>A	c.(2440-2442)Gtt>Att	p.V814I	PRMT10_ENST00000541232.1_Missense_Mutation_p.V701I|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	814						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCTAAAACAACTGCAGCTTGT	0.413000													20	20					0	0	0.008871	0	0
DRD4	1815	broad.mit.edu	37	11	639780	639780	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:639780G>A	ENST00000176183.5	+	3	543	c.531G>A	c.(529-531)gtG>gtA	p.V177V	DRD4_ENST00000528733.1_3'UTR	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	177					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	TCAACGACGTGCGCGGCCGCG	0.726000													7	7					0	0	0.003080	0	0
OR51E2	81285	broad.mit.edu	37	11	4703785	4703785	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:4703785T>C	ENST00000396950.3	-	2	396	c.157A>G	c.(157-159)Agc>Ggc	p.S53G		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCGTGCAGGCTGCGTTCCGTC	0.512000													3	77					0	0	0.004672	0	0
ZNF728	388523	broad.mit.edu	37	19	23159296	23159296	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:23159296C>T	ENST00000594710.1	-	4	988	c.843G>A	c.(841-843)gaG>gaA	p.E281E		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TGTAGGGTTTCTCTCCAGCAT	0.418000													17	37					0	0	0.014323	0	0
KIF22	3835	broad.mit.edu	37	16	29814096	29814096	+	Silent	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:29814096A>G	ENST00000561482.1	+	9	1720	c.1083A>G	c.(1081-1083)ctA>ctG	p.L361L	KIF22_ENST00000400751.5_Silent_p.L361L|KIF22_ENST00000160827.4_Silent_p.L429L|KIF22_ENST00000569382.2_Silent_p.L361L|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	429					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCAGCCCCCTACAGAAGCTAA	0.592000													3	93					0	0	0.004672	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													7	59					0	0	0.001984	0	0
CAMK1	8536	broad.mit.edu	37	3	9807481	9807481	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:9807481C>T	ENST00000256460.3	-	3	354	c.177G>A	c.(175-177)aaG>aaA	p.K59K	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	59	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TGCTGCCTTCCTTGCCCTCCA	0.602000													29	6					0	0	0.008361	0	0
AP3B2	8120	broad.mit.edu	37	15	83349371	83349371	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:83349371C>T	ENST00000261722.3	-	8	1115	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	AP3B2_ENST00000535348.1_Missense_Mutation_p.R271Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R303Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	303					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGCAGCAGCCGGTGGTCGGG	0.706000													4	29					0	0	0.009096	0	0
MED17	9440	broad.mit.edu	37	11	93527025	93527025	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:93527025A>G	ENST00000251871.3	+	4	1056	c.769A>G	c.(769-771)Atc>Gtc	p.I257V		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	257					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCTGCATATATCAAGGTATT	0.299000													14	407					0	0	0.003163	0	0
IQGAP3	128239	broad.mit.edu	37	1	156510539	156510539	+	Silent	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:156510539G>T	ENST00000361170.2	-	23	2710	c.2700C>A	c.(2698-2700)atC>atA	p.I900I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	900					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCAATCTTGATGTCCATGA	0.562000													30	31					3.73148e-12	6.84956e-12	0.007291	1	0
AGMO	392636	broad.mit.edu	37	7	15584411	15584411	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:15584411T>G	ENST00000342526.3	-	3	564	c.395A>C	c.(394-396)cAt>cCt	p.H132P		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	132					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AGCCATACGATGGAACCAGTA	0.393000													6	100					0	0	0.001168	0	0
PCDH15	65217	broad.mit.edu	37	10	55849763	55849763	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:55849763C>A	ENST00000373965.2	-	17	2393	c.1999G>T	c.(1999-2001)Gtt>Ttt	p.V667F	PCDH15_ENST00000395432.2_Missense_Mutation_p.V623F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V660F|PCDH15_ENST00000395430.1_Missense_Mutation_p.V660F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V665F|PCDH15_ENST00000373957.3_Missense_Mutation_p.V638F|PCDH15_ENST00000320301.6_Missense_Mutation_p.V660F|PCDH15_ENST00000395438.1_Missense_Mutation_p.V660F|PCDH15_ENST00000395445.1_Missense_Mutation_p.V667F|PCDH15_ENST00000395446.1_Missense_Mutation_p.V660F|PCDH15_ENST00000373955.1_Missense_Mutation_p.V660F|PCDH15_ENST00000395433.1_Missense_Mutation_p.V638F|PCDH15_ENST00000409834.1_Missense_Mutation_p.V271F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	660	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGATTAAAAACTCTCTGAGGA	0.338000										HNSCC(58;0.16)			29	94					8.88839e-20	1.68943e-19	0.010818	1	0
ELN	2006	broad.mit.edu	37	7	73480043	73480043	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:73480043C>T	ENST00000252034.7	+	30	2412	c.2013C>T	c.(2011-2013)gcC>gcT	p.A671A	ELN_ENST00000380575.4_Silent_p.A642A|ELN_ENST00000380553.4_Silent_p.A535A|ELN_ENST00000414324.1_Silent_p.A647A|ELN_ENST00000445912.1_Silent_p.A671A|ELN_ENST00000358929.4_Silent_p.A739A|ELN_ENST00000458204.1_Silent_p.A661A|ELN_ENST00000380562.4_Silent_p.A677A|ELN_ENST00000320399.6_Silent_p.A704A|ELN_ENST00000380584.4_Silent_p.A623A|ELN_ENST00000320492.7_Silent_p.A590A|ELN_ENST00000357036.5_Silent_p.A676A|ELN_ENST00000380576.5_Silent_p.A652A|ELN_ENST00000429192.1_Silent_p.A657A	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	733	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGCTGCAGCCGCTAAAGCAG	0.562000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						15	24					0	0	0.003163	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	51					0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	20944608	20944608	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:20944608A>T	ENST00000261383.3	-	62	12218	c.12219T>A	c.(12217-12219)agT>agA	p.S4073R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4073					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCGGGCACTTGTTTTGT	0.512000													58	104					0	0	0.014410	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163765	161163765	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:161163765C>T	ENST00000367996.4	-	5	1936	c.1508G>A	c.(1507-1509)gGt>gAt	p.G503D		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	503	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGCGACCACCCATGCAGGC	0.652000													20	21					0	0	0.008871	0	0
NR2C1	7181	broad.mit.edu	37	12	95442958	95442958	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:95442958G>A	ENST00000333003.5	-	9	1347	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Silent_p.C339C|NR2C1_ENST00000330677.7_Silent_p.C339C	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	339					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGAGCTCTGGCAGGCTGTGC	0.468000													44	78					0	0	0.010771	0	0
HECW2	57520	broad.mit.edu	37	2	197081812	197081812	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:197081812G>A	ENST00000260983.2	-	27	4596	c.4414C>T	c.(4414-4416)Cat>Tat	p.H1472Y	HECW2_ENST00000409111.1_Missense_Mutation_p.H1116Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1472	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGATTGTCATGGTATCCTATC	0.388000													11	100					0	0	0.013537	0	0
PLA1A	51365	broad.mit.edu	37	3	119331938	119331938	+	Missense_Mutation	SNP	G	G	A	rs140761557		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:119331938G>A	ENST00000273371.4	+	5	709	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	PLA1A_ENST00000494440.1_Missense_Mutation_p.V197M|PLA1A_ENST00000488919.1_Missense_Mutation_p.V40M|PLA1A_ENST00000495992.1_Missense_Mutation_p.V197M	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	213				V -> T (in Ref. 4; BAD96425).	lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCCTCTTCGTGGAAGCCAT	0.592000													11	11					0	0	0.002450	0	0
DHTKD1	55526	broad.mit.edu	37	10	12126710	12126710	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:12126710A>C	ENST00000263035.4	+	3	544	c.482A>C	c.(481-483)gAa>gCa	p.E161A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	161					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACCACAGAAGAGCGAAAA	0.493000													45	92					0	0	0.010771	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	26					0	0	0.004672	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47492882	47492882	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:47492882C>T	ENST00000404338.3	+	4	3986	c.3986C>T	c.(3985-3987)cCt>cTt	p.P1329L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1329	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAGAACTGCCTGACCCCCTG	0.542000													52	86					0	0	0.014410	0	0
RIF1	55183	broad.mit.edu	37	2	152266962	152266962	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:152266962C>T	ENST00000243326.4	+	1	508	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	RIF1_ENST00000453091.2_Missense_Mutation_p.L9F|RIF1_ENST00000444746.2_Missense_Mutation_p.L9F|RIF1_ENST00000430328.2_Missense_Mutation_p.L9F|RIF1_ENST00000428287.2_Missense_Mutation_p.L9F|RIF1_ENST00000433166.2_Missense_Mutation_p.L9F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	9					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAGCCCCCTCGCGCCGCT	0.652000											OREG0015013	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	53					0	0	0.008871	0	0
DYSF	8291	broad.mit.edu	37	2	71901427	71901427	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:71901427G>A	ENST00000258104.3	+	51	6044		c.e51+1		DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATTTTCTGGGTAAGCGCTAT	0.522000													15	28					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113304927	113304927	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:113304927C>T	ENST00000297405.5	-	55	8871	c.8627G>A	c.(8626-8628)gGt>gAt	p.G2876D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2707D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2806D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2836D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2876	Sushi 19.					integral to membrane|plasma membrane				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						ACCAGGGTGACCACAGCTAAC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	74					0	0	0.000602	0	0
KLHL2	11275	broad.mit.edu	37	4	166238995	166238995	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:166238995G>T	ENST00000226725.6	+	14	1886	c.1627G>T	c.(1627-1629)Ggt>Tgt	p.G543C	KLHL2_ENST00000421009.2_Missense_Mutation_p.G446C|KLHL2_ENST00000514860.1_Missense_Mutation_p.G547C|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.G377C|KLHL2_ENST00000538127.1_Missense_Mutation_p.G455C	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	543					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGCAGTTAATGGTCTGTTATA	0.348000													26	12					5.61819e-17	1.06033e-16	0.005443	1	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	33					0	0	0.004672	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151293090	151293090	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:151293090C>A	ENST00000367321.3	+	20	2295	c.2021C>A	c.(2020-2022)cCt>cAt	p.P674H	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	674	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TAGGGGACACCTGTGTTCGTG	0.443000													17	76					1.50039e-11	2.71692e-11	0.012319	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													7	66					0	0	0.001984	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													3	102					0	0	0.009096	0	0
C2orf62	375307	broad.mit.edu	37	2	219221907	219221907	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219221907C>T	ENST00000289388.3	+	2	144	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	39										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCAGCTCCCTCCGTGAGCT	0.607000													23	38					0	0	0.014323	0	0
PRELID1	27166	broad.mit.edu	37	5	176732933	176732933	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:176732933G>T	ENST00000303204.4	+	3	592	c.380G>T	c.(379-381)cGc>cTc	p.R127L	MXD3_ENST00000427908.2_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.R127L			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	127	PRELI/MSF1.			R -> H (in Ref. 1; AAF09255).	immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGAAATCCGCCGGGAAGCC	0.547000													24	36					3.6726e-16	6.88292e-16	0.003954	1	0
TP53	7157	broad.mit.edu	37	17	7579386	7579386	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:7579386T>A	ENST00000420246.2	-	4	433	c.301A>T	c.(301-303)Aaa>Taa	p.K101*	TP53_ENST00000269305.4_Nonsense_Mutation_p.K101*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K101*|TP53_ENST00000445888.2_Nonsense_Mutation_p.K101*|TP53_ENST00000413465.2_Nonsense_Mutation_p.K101*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K101*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	101	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		K -> N (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K101*(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.T102fs*21(2)|p.V73fs*9(1)|p.K101fs*48(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTAGGTTTTCTGGGAAGGG	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	8					0	0	0.012213	0	0
CHRND	1144	broad.mit.edu	37	2	233399048	233399048	+	Missense_Mutation	SNP	A	A	C	rs144433265		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:233399048A>C	ENST00000258385.3	+	11	1399	c.1367A>C	c.(1366-1368)aAt>aCt	p.N456T	CHRND_ENST00000543200.1_Missense_Mutation_p.N441T|CHRND_ENST00000457943.2_Missense_Mutation_p.N262T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	456					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AACAATTACAATGAGGTAAGG	0.488000													7	98					0	0	0.001984	0	0
TTC21B	79809	broad.mit.edu	37	2	166764213	166764213	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:166764213C>T	ENST00000243344.7	-	19	2680	c.2543G>A	c.(2542-2544)gGt>gAt	p.G848D		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	848						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GATCGCATCACCAAGTTTTTC	0.393000													17	19					0	0	0.008871	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067176	18067176	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:18067176C>A	ENST00000506618.2	-	1	310	c.230G>T	c.(229-231)tGc>tTc	p.C77F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	77					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGCAATCTTGCAGGCATTAAT	0.483000													110	164					5.77253e-36	1.10503e-35	0.014410	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204226792	204226792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:204226792G>A	ENST00000272203.3	-	9	1529	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.Q425*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	405										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTCGCAGCTGGTAGGCAGGG	0.652000													8	11					0	0	0.003080	0	0
ALG10B	144245	broad.mit.edu	37	12	38714315	38714315	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38714315C>G	ENST00000308742.4	+	3	1038	c.722C>G	c.(721-723)tCc>tGc	p.S241C	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	241					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGCTTATTCCATGTCCTTT	0.368000													9	114					0	0	0.004482	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633547	19633547	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:19633547T>C	ENST00000235835.3	-	5	758	c.737A>G	c.(736-738)cAg>cGg	p.Q246R		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	246					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCACAGGCTGTTTCCCGTC	0.622000													3	70					0	0	0.009096	0	0
SSR4	6748	broad.mit.edu	37	X	153063240	153063240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:153063240G>A	ENST00000320857.3	+	5	1406	c.322G>A	c.(322-324)Gac>Aac	p.D108N	SSR4_ENST00000370087.1_Missense_Mutation_p.D108N|SSR4_ENST00000370086.3_Missense_Mutation_p.D108N|SSR4_ENST00000370085.3_Missense_Mutation_p.D83N|SSR4_ENST00000460616.1_3'UTR	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	108					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGATTCTTCGACGAGGAGTC	0.617000													6	15					0	0	0.001168	0	0
BCS1L	617	broad.mit.edu	37	2	219526164	219526164	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:219526164G>A	ENST00000431802.1	+	3	1055	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	BCS1L_ENST00000392111.2_Missense_Mutation_p.R119Q|BCS1L_ENST00000412366.1_Missense_Mutation_p.R119Q|BCS1L_ENST00000359273.3_Missense_Mutation_p.R119Q|BCS1L_ENST00000439945.1_Missense_Mutation_p.R119Q|BCS1L_ENST00000392109.1_Missense_Mutation_p.R119Q|BCS1L_ENST00000392110.2_Missense_Mutation_p.R119Q			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	119					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAACGAAGTCGAGAGATGCAG	0.493000													76	56					0	0	0.014410	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209568	19209568	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr22:19209568C>G	ENST00000263200.10	-	16	2539	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D823H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D823H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	823	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCAGAACAATCCACATCAAGC	0.443000			T	?	ALCL								43	84					0	0	0.008740	0	0
RBM15	64783	broad.mit.edu	37	1	110884036	110884036	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:110884036C>T	ENST00000369784.3	+	1	2909	c.2009C>T	c.(2008-2010)tCt>tTt	p.S670F	RBM15_ENST00000487146.2_Missense_Mutation_p.S670F|RBM15_ENST00000602849.1_Missense_Mutation_p.S670F	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	670	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCGCTCCTTCTCCTGACCGC	0.557000			T	MKL1	acute megakaryocytic leukemia								19	29					0	0	0.008871	0	0
VNN3	55350	broad.mit.edu	37	6	133055712	133055712	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr6:133055712T>A	ENST00000425515.2	-	1	192	c.120A>T	c.(118-120)agA>agT	p.R40S	VNN3_ENST00000392393.3_Missense_Mutation_p.R40S|VNN3_ENST00000275223.3_Missense_Mutation_p.R40S|VNN3_ENST00000450865.2_Missense_Mutation_p.R40S|VNN3_ENST00000207771.3_Missense_Mutation_p.R40S|VNN3_ENST00000519686.2_Missense_Mutation_p.R40S|VNN3_ENST00000392394.2_Missense_Mutation_p.R40S|VNN3_ENST00000367927.5_Missense_Mutation_p.R40S|VNN3_ENST00000414302.2_Missense_Mutation_p.R40S|VNN3_ENST00000427187.2_Missense_Mutation_p.R40S|VNN3_ENST00000423615.2_Missense_Mutation_p.R40S|VNN3_ENST00000509351.1_Missense_Mutation_p.R40S|VNN3_ENST00000417437.2_Missense_Mutation_p.R40S					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GTGTTTCTGTTCTGTTTGGTA	0.428000													18	37					0	0	0.004990	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578580	44578580	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:44578580G>A	ENST00000289547.4	-	2	1471	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	NPC1L1_ENST00000423141.1_Silent_p.Y472Y|NPC1L1_ENST00000381160.3_Silent_p.Y472Y|NPC1L1_ENST00000546276.1_Silent_p.Y472Y	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	472					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGGGGGCGTAGCAGATGT	0.592000													12	26					0	0	0.002450	0	0
CELSR2	1952	broad.mit.edu	37	1	109801082	109801082	+	Silent	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:109801082C>T	ENST00000271332.3	+	2	3400	c.3339C>T	c.(3337-3339)tgC>tgT	p.C1113C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1113	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGCCCAGTGCGCGCTGCGTG	0.622000													3	5					0	0	0.004672	0	0
IL7R	3575	broad.mit.edu	37	5	35876219	35876219	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr5:35876219G>T	ENST00000303115.3	+	8	1140	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	337					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AATCTGAGAAGCAGAGGCTTG	0.488000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						15	38					4.14922e-12	7.56456e-12	0.004007	1	0
STK26	51765	broad.mit.edu	37	X	131197495	131197495	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:131197495G>A	ENST00000394334.2	+	4	561	c.308G>A	c.(307-309)gGc>gAc	p.G103D	MST4_ENST00000394335.2_Missense_Mutation_p.G26D|MST4_ENST00000354719.6_Missense_Mutation_p.G103D|MST4_ENST00000496850.1_Missense_Mutation_p.G103D|MST4_ENST00000481105.1_Missense_Mutation_p.G125D	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		103	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GAATACCTGGGCGGTGGTTCA	0.318000													30	64					0	0	0.003755	0	0
SEZ6	124925	broad.mit.edu	37	17	27308731	27308731	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:27308731C>T	ENST00000317338.12	-	2	810	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.A128T|SEZ6_ENST00000442608.3_Missense_Mutation_p.A128T|SEZ6_ENST00000360295.9_Missense_Mutation_p.A128T			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	128	Pro-rich.					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)			GTGGGTACCGCAGCCATGGCT	0.652000													13	21					0	0	0.002450	0	0
LGI3	203190	broad.mit.edu	37	8	22009005	22009005	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr8:22009005G>T	ENST00000306317.2	-	7	1115	c.826C>A	c.(826-828)Cca>Aca	p.P276T	LGI3_ENST00000424267.2_Missense_Mutation_p.P252T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	276					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CAGGTACCTGGGATTCTATCA	0.572000													5	96					2.0095e-06	3.49705e-06	0.001984	1	0
SLC34A2	10568	broad.mit.edu	37	4	25676210	25676210	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:25676210G>A	ENST00000382051.3	+	12	1467	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A472T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A472T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	473					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATCCTGGCCGCCTTAGCCAG	0.607000			T	ROS1	NSCLC								49	60					0	0	0.014410	0	0
PAX1	5075	broad.mit.edu	37	20	21695341	21695341	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:21695341C>T	ENST00000398485.2	+	5	1559	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	502					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCGCGGGGTGCACGCCCAGCC	0.687000													13	24					0	0	0.013537	0	0
TBC1D20	128637	broad.mit.edu	37	20	428589	428589	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:428589C>T	ENST00000354200.4	-	2	347	c.200G>A	c.(199-201)cGa>cAa	p.R67Q		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	67	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CCACACTTTTCGTCTGATCTC	0.537000													8	60					0	0	0.003080	0	0
MAGI2	9863	broad.mit.edu	37	7	77885383	77885383	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr7:77885383C>T	ENST00000354212.4	-	10	2177	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E642K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E474K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E642K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E479K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	642	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTCGCCTTCACACAGGCCA	0.493000													10	12					0	0	0.006214	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158579	48158579	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:48158579A>C	ENST00000418331.2	+	10	2250	c.1898A>C	c.(1897-1899)gAt>gCt	p.D633A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	633	Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCAACATTGATGTAAGTACC	0.398000													12	87					0	0	0.010729	0	0
RALGAPB	57148	broad.mit.edu	37	20	37199442	37199442	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr20:37199442A>T	ENST00000262879.6	+	28	4378	c.4094A>T	c.(4093-4095)gAg>gTg	p.E1365V	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1365V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1362V|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E1144V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1365	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGATGACAGAGATCAGTACT	0.358000													22	29					0	0	0.002780	0	0
USP40	55230	broad.mit.edu	37	2	234460155	234460155	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:234460155A>C	ENST00000251722.6	-	7	821	c.704T>G	c.(703-705)tTa>tGa	p.L235*	USP40_ENST00000450966.1_Nonsense_Mutation_p.L247*|USP40_ENST00000427112.2_Nonsense_Mutation_p.L235*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	235					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTACGTAATTTGGCCGA	0.308000													11	9					0	0	0.013537	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591210	56591210	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chrX:56591210G>A	ENST00000338222.5	+	1	1185	c.904G>A	c.(904-906)Ggg>Agg	p.G302R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	302						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TTCCTCCTCTGGGGAAGGTAC	0.567000													22	25					0	0	0.003330	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861219	67861219	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:67861219G>A	ENST00000388833.3	+	14	1947	c.1570G>A	c.(1570-1572)Ggc>Agc	p.G524S	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.G509S|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.G578S	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	524					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGAGGCAGGGGGCTGGCATCC	0.597000													32	36					0	0	0.013726	0	0
NUTM2D	728130	broad.mit.edu	37	10	89118157	89118157	+	Silent	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr10:89118157T>C	ENST00000412718.1	+	1	681	c.135T>C	c.(133-135)agT>agC	p.S45S	NUTM2D_ENST00000381697.2_Silent_p.S45S					NUT family member 2D																		CGGTAGTCAGTGCCCAGCCTG	0.512000													17	443					0	0	0.007413	0	0
CTCF	10664	broad.mit.edu	37	16	67670700	67670700	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:67670700A>T	ENST00000264010.4	+	11	2389	c.1945A>T	c.(1945-1947)Aag>Tag	p.K649*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.K321*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	649					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACCACCCGCCAAGAAGCGGAG	0.587000													79	135					0	0	0.014410	0	0
ALG10B	144245	broad.mit.edu	37	12	38714762	38714762	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:38714762C>G	ENST00000308742.4	+	3	1485	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	390					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCATTGAAATCAAAGCCAATT	0.313000													6	59					0	0	0.001168	0	0
ZNF384	171017	broad.mit.edu	37	12	6788350	6788350	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr12:6788350C>G	ENST00000396795.1	-	3	564		c.e3-1		ZNF384_ENST00000361959.3_Splice_Site|ZNF384_ENST00000396799.2_Splice_Site|ZNF384_ENST00000355772.4_Splice_Site|ZNF384_ENST00000319770.3_Splice_Site|ZNF384_ENST00000396801.3_Splice_Site			Q8TF68	ZN384_HUMAN	zinc finger protein 384						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGTTCTCGATCTAAGAGAAAA	0.532000			T	"""EWSR1, TAF15 """	ALL								26	47					0	0	0.005443	0	0
USP19	10869	broad.mit.edu	37	3	49151435	49151435	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49151435C>T	ENST00000453664.1	-	17	2777	c.2459G>A	c.(2458-2460)cGt>cAt	p.R820H	USP19_ENST00000398888.2_Missense_Mutation_p.R729H|USP19_ENST00000398892.3_Missense_Mutation_p.R769H|USP19_ENST00000398896.1_Missense_Mutation_p.R537H|USP19_ENST00000398898.2_Missense_Mutation_p.R769H|USP19_ENST00000417901.1_Missense_Mutation_p.R832H|USP19_ENST00000434032.2_Missense_Mutation_p.R830H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	729					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCCGCCAAACGCAGGTTCTC	0.512000													7	21					0	0	0.004482	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	32					0	0	0.004672	0	0
RFFL	117584	broad.mit.edu	37	17	33343508	33343508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:33343508C>T	ENST00000315249.7	-	5	989	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	RFFL_ENST00000413582.2_Missense_Mutation_p.R256Q|RFFL_ENST00000394597.2_Missense_Mutation_p.R256Q|RFFL_ENST00000378516.2_Missense_Mutation_p.R256Q|RFFL_ENST00000268850.7_Missense_Mutation_p.R228Q|RFFL_ENST00000584655.1_Missense_Mutation_p.R228Q|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R173Q|RFFL_ENST00000447669.2_Missense_Mutation_p.R256Q|RFFL_ENST00000415395.2_Missense_Mutation_p.R256Q			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	256	SAP 2.				apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTCAGCTGCCGCACTGTCAG	0.537000													10	163					0	0	0.006214	0	0
ZNF638	27332	broad.mit.edu	37	2	71629115	71629115	+	Silent	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:71629115C>G	ENST00000409544.1	+	16	3357	c.2727C>G	c.(2725-2727)gtC>gtG	p.V909V	ZNF638_ENST00000355812.3_Silent_p.V909V|ZNF638_ENST00000264447.4_Silent_p.V909V	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	909	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGATGCTTGTCTCTAATTTGC	0.269000													18	34					0	0	0.008871	0	0
H3F3B	3021	broad.mit.edu	37	17	73775146	73775146	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:73775146T>A	ENST00000254810.4	-	2	242	c.110A>T	c.(109-111)aAg>aTg	p.K37M	H3F3B_ENST00000592643.1_Missense_Mutation_p.K37M|H3F3B_ENST00000586607.1_Missense_Mutation_p.K37M|H3F3B_ENST00000589599.1_Missense_Mutation_p.K37M|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000587560.1_Missense_Mutation_p.K37M|H3F3B_ENST00000591890.1_Missense_Mutation_p.K37M	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGAGGCTTCTTCACCCCGCC	0.662000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	19					0	0	0.002450	0	0
KRT26	353288	broad.mit.edu	37	17	38926053	38926053	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:38926053G>A	ENST00000335552.4	-	5	970	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	308	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGCAGATTGCGTTTTAATTCG	0.438000													45	20					0	0	0.010771	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994497	72994497	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr4:72994497T>G	ENST00000308744.6	+	2	593	c.495T>G	c.(493-495)aaT>aaG	p.N165K	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N66K|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N63K	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	165					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGATGGGAAATACTGTGGTTT	0.358000													40	51					0	0	0.006999	0	0
DNAJC13	23317	broad.mit.edu	37	3	132185174	132185174	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:132185174C>G	ENST00000260818.6	+	19	2248	c.2000C>G	c.(1999-2001)tCa>tGa	p.S667*	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	667							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGGAAAGCTCAGATCTCGTA	0.378000													21	57					0	0	0.003330	0	0
SNX20	124460	broad.mit.edu	37	16	50707787	50707787	+	Silent	SNP	G	G	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr16:50707787G>A	ENST00000330943.4	-	4	652	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	161	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TACTCCTGCAGGGCGCGCCGA	0.647000													5	25					0	0	0.000602	0	0
HUNK	30811	broad.mit.edu	37	21	33296871	33296871	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:33296871T>C	ENST00000270112.2	+	2	713	c.353T>C	c.(352-354)aTc>aCc	p.I118T		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	118	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGCAGATGATCCGCCACCCC	0.493000													21	23					0	0	0.010504	0	0
TM6SF1	53346	broad.mit.edu	37	15	83796130	83796130	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr15:83796130T>C	ENST00000379390.6	+	6	611	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L	TM6SF1_ENST00000379386.4_Silent_p.Y277Y|TM6SF1_ENST00000322019.9_Silent_p.Y274Y|TM6SF1_ENST00000565774.1_Silent_p.Y243Y			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	0						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ATATGTTCTATTCTGTTCCTT	0.408000													132	113					0	0	0.014410	0	0
ZNF728	388523	broad.mit.edu	37	19	23159247	23159247	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr19:23159247T>C	ENST00000594710.1	-	4	1037	c.892A>G	c.(892-894)Acc>Gcc	p.T298A		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GCAGTAAGGGTTGAGGCCTTA	0.433000													21	55					0	0	0.014323	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	21					0	0	0.004672	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403472	85403472	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:85403472C>T	ENST00000370608.3	-	11	1368	c.1301G>A	c.(1300-1302)tGt>tAt	p.C434Y	MCOLN2_ENST00000284027.5_Missense_Mutation_p.C406Y|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	434						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AATCCAGCCACAGAATGTGTA	0.463000													16	7					0	0	0.004007	0	0
SEC22B	9554	broad.mit.edu	37	1	145109769	145109770	+	RNA	INS	-	-	T			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr1:145109769_145109770insT	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ATATTTATACATTTTTTCTGAT	0.332													16	122	---	---	---	---					
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441													3	6	---	---	---	---					
IMPDH2	3615	broad.mit.edu	37	3	49063994	49063999	+	In_Frame_Del	DEL	TGTACT	TGTACT	-			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr3:49063994_49063999delTGTACT	ENST00000326739.4	-	8	902_907	c.863_868delAGTACA	c.(862-870)atc>a	p.KYI288del		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	288					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TTGTCTTTGATGTACTTGATCATATT	0.485													7	2	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGTATCTCTGGAAAAAAAAATA	0.332													19	489	---	---	---	---					
DUSP14	11072	broad.mit.edu	37	17	35872374	35872375	+	Translation_Start_Site	INS	-	-	A			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr17:35872374_35872375insA	ENST00000487847.1	+	0	978_979				DUSP14_ENST00000394386.1_De_novo_Start_InFrame|DUSP14_ENST00000394389.4_De_novo_Start_InFrame			O95147	DUS14_HUMAN	dual specificity phosphatase 14								MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CTGGCGTCTTCATGAGCTCCAG	0.505													151	36	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---					
TMPRSS3	64699	broad.mit.edu	37	21	43795867	43795873	+	Frame_Shift_Del	DEL	GGTGTAC	GGTGTAC	-			TCGA-CQ-6228-01A-11D-1912-08	TCGA-CQ-6228-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	655e502b-1a6e-4eab-a948-4120d6c31c29	4ce6601d-842c-4551-8a3e-a8892f66e1ed	g.chr21:43795867_43795873delGGTGTAC	ENST00000291532.3	-	12	2254_2260	c.1299_1305delGTACACC	c.(1297-1305)gtfs	p.VYT433fs	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Frame_Shift_Del_p.VYT430fs|TMPRSS3_ENST00000433957.2_Frame_Shift_Del_p.VYT432fs|TMPRSS3_ENST00000380399.1_Frame_Shift_Del_p.VYT517fs	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	433	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGGTGACACGGGTGTACACCCCAGGCT	0.628													40	69	---	---	---	---