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
GGA3	23163	broad.mit.edu	37	17	73239164	73239164	+	Missense_Mutation	SNP	C	C	G	rs35542883		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:73239164C>G	uc002jni.2	-	5	547	c.508G>C	c.(508-510)Gat>Cat	p.D170H	GGA3_uc002jnk.2_Missense_Mutation_p.D98H|GGA3_uc002jnj.2_Missense_Mutation_p.D137H|GGA3_uc010wry.2_Missense_Mutation_p.D98H|GGA3_uc010wrw.2_Missense_Mutation_p.D48H|GGA3_uc010wrx.2_Missense_Mutation_p.D48H|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	170	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCTCATCATCAAAAACAGGG	0.547000													59	173					0	0	1	0	0
HMGB1	3146	broad.mit.edu	37	13	31036768	31036768	+	Silent	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:31036768C>T	uc001usx.3	-	3	541	c.378G>A	c.(376-378)gcG>gcA	p.A126A	HMGB1_uc001usz.3_Silent_p.A126A|HMGB1_uc001usv.3_Silent_p.A126A|HMGB1_uc001usy.3_Silent_p.A87A|HMGB1_uc001uta.1_Silent_p.A126A	NM_002128	NP_002119	P09429	HMGB1_HUMAN	Homo sapiens high mobility group box 1 (HMGB1), mRNA.	126					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.A126A(2)|p.V125D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCAGTTTCTTCGCAACATCAC	0.413000													3	50					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12856228	12856228	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr10:12856228G>A	uc001ilo.3	+	6	911	c.676G>A	c.(676-678)Gac>Aac	p.D226N	CAMK1D_uc001iln.3_Missense_Mutation_p.D226N	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	226	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGATGAAAATGACTCCAAGCT	0.483000													7	63					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16721024	16721024	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr7:16721024G>T	uc003stj.2	+	3	496	c.334G>T	c.(334-336)Gct>Tct	p.A112S	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stl.2_Missense_Mutation_p.A112S|BZW2_uc003stm.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.A112S|BZW2_uc003sto.1_5'UTR	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	112					RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCGAAACTATGCTCAGGTAGA	0.438000													4	37					1.23904e-05	1.39218e-05	1	1	0
MTRF1L	54516	broad.mit.edu	37	6	153315714	153315714	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr6:153315714C>G	uc003qpi.4	-	3	726	c.621G>C	c.(619-621)aaG>aaC	p.K207N	MTRF1L_uc003qpl.4_Missense_Mutation_p.K207N|MTRF1L_uc011efa.2_Missense_Mutation_p.K171N|MTRF1L_uc003qpk.4_Missense_Mutation_p.K171N|MTRF1L_uc003qpj.4_Missense_Mutation_p.K65N	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	Homo sapiens mitochondrial translational release factor 1-like (MTRF1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	207						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GCTTTTCTGTCTTTGGCACTC	0.502000													12	80					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72359736	72359736	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:72359736C>A	uc003kcl.3	+	17	1530	c.1414C>A	c.(1414-1416)Ctt>Att	p.L472I	FCHO2_uc011csl.2_Missense_Mutation_p.L439I|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	472	Ser-rich.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CAGACCAAAGCTTACTTCAGG	0.403000													31	66					4.40281e-34	5.43557e-34	1	1	0
TOM1	10043	broad.mit.edu	37	22	35723290	35723290	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:35723290G>T	uc003ann.3	+	6	800	c.675G>T	c.(673-675)gaG>gaT	p.E225D	TOM1_uc011ami.2_Missense_Mutation_p.E192D|TOM1_uc003anp.3_Missense_Mutation_p.E225D|TOM1_uc011aml.2_Missense_Mutation_p.E180D|TOM1_uc011amk.2_Missense_Mutation_p.E187D|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.E68D	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	225	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTGAGCTGGAGATGGTGAGTG	0.602000													7	50					2.17888e-05	2.42097e-05	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73675809	73675809	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:73675809A>T	uc002sje.1	+	7	2263	c.2152A>T	c.(2152-2154)Aga>Tga	p.R718*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.R676*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.R106*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R106*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	718	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCACTCACATAGAGAGAAGCC	0.478000													3	71					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45671664	45671664	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:45671664C>A	uc001cnd.2	-	0	587	c.359G>T	c.(358-360)gGc>gTc	p.G120V		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	120							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ggcgccggggccgccccggTA	0.781000													4	18					0.00909568	0.00947467	1	1	0
RPL26	6154	broad.mit.edu	37	17	8283223	8283223	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:8283223A>C	uc002glh.1	-	2	296	c.200T>G	c.(199-201)aTt>aGt	p.I67S		NM_000987	NP_000978	P61254	RL26_HUMAN	Homo sapiens ribosomal protein L26 (RPL26), mRNA.	67					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			skin(1)|urinary_tract(1)	2						TACTTTGCCAATTTGCTGACC	0.373000													8	82					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231266	70231266	+	Silent	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr7:70231266G>A	uc003tvw.4	+	8	2370	c.1635G>A	c.(1633-1635)ccG>ccA	p.P545P	AUTS2_uc003tvx.4_Silent_p.P545P|AUTS2_uc011keg.2_5'UTR	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	545	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		cCTTCACGCCGTTCCCCCACG	0.642000													27	51					0	0	1	0	0
PNRC2	55629	broad.mit.edu	37	GL000191.1	31706	31706	+	Silent	SNP	A	A	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrGL000191.1:31706A>T	uc002qvo.3	+	2	812	c.417A>T	c.(415-417)gtA>gtT	p.V139V		NM_017761	NP_060231	Q9NPJ4	PNRC2_HUMAN	Homo sapiens proline-rich nuclear receptor coactivator 2 (PNRC2), mRNA.	139					deadenylation-independent decapping of nuclear-transcribed mRNA|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus	protein binding						Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Myeloproliferative disorder(586;0.0393)|Breast(348;0.0448)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.59e-24)|Colorectal(126;2.18e-08)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;2.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|KIRC - Kidney renal clear cell carcinoma(1967;0.00325)|STAD - Stomach adenocarcinoma(196;0.00841)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.141)		AAGTACAGGTATAAAATAAGA	0.328000													11	101					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30744761	30744761	+	Silent	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:30744761A>G	uc002dze.1	+	27	6673	c.6288A>G	c.(6286-6288)gaA>gaG	p.E2096E	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.E1891E	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2096	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTAGAGTTGAACAGAGACAGG	0.527000													20	57					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405527	94405527	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr14:94405527T>G	uc001ycd.3	-	7	1914	c.1544A>C	c.(1543-1545)cAc>cCc	p.H515P	ASB2_uc001ycb.2_Missense_Mutation_p.H161P|ASB2_uc001ycc.2_Missense_Mutation_p.H467P|ASB2_uc001yce.1_Missense_Mutation_p.H413P	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	467					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCCGGCGGGTGCGGGCCGTT	0.692000													4	43					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996130	166996130	+	Silent	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr4:166996130T>C	uc003irh.2	+	16	2936	c.2289T>C	c.(2287-2289)caT>caC	p.H763H	TLL1_uc011cjn.2_Silent_p.H786H|TLL1_uc011cjo.2_Silent_p.H587H	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	763	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGTGCTACATGACAATAAAC	0.403000													16	115					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55743012	55743012	+	Silent	SNP	T	T	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:55743012T>G	uc002qjv.3	-	18	2600	c.2517A>C	c.(2515-2517)tcA>tcC	p.S839S	TMEM86B_uc002qjt.3_5'Flank|TMEM86B_uc002qju.3_5'Flank|PPP6R1_uc002qjw.4_Silent_p.S777S	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	777	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CCTGAGGTGCTGAGGGGGGTG	0.667000													4	47					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621750	4621750	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:4621750C>T	uc001lzf.2	-	6	1504	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	405	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGTGCCTGCTCGGTACTCATT	0.517000													30	104					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128794	147128794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:147128794G>T	uc003ewe.3	+	0	1614	c.895G>T	c.(895-897)Gag>Tag	p.E299*		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	299					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCACACGGGCGAGAAGCCCTT	0.562000													30	108					7.11191e-15	8.56856e-15	1	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557975	170557975	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:170557975T>A	uc021vsh.1	+	3	812	c.494T>A	c.(493-495)tTa>tAa	p.L165*	PHOSPHO2_uc021vsi.1_Nonsense_Mutation_p.L165*|PHOSPHO2_uc021vsj.1_Nonsense_Mutation_p.L165*|PHOSPHO2_uc021vsg.1_Nonsense_Mutation_p.L165*|PHOSPHO2_uc002ufg.3_Nonsense_Mutation_p.L165*|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Nonsense_Mutation_p.L165*	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	165							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GATAAACAGTTACAACAGGGA	0.343000													3	35					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	131631	131631	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:131631T>A	uc002fre.2	-	5	709	c.366A>T	c.(364-366)aaA>aaT	p.K122N	RPH3AL_uc010vpy.2_Missense_Mutation_p.K122N|RPH3AL_uc021tmx.1_Missense_Mutation_p.K122N|RPH3AL_uc002frf.2_Intron|RPH3AL_uc010cjl.2_Intron	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	122	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CGATCCCACATTTGGTGCAGA	0.587000													33	145					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151552139	151552139	+	Silent	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:151552139A>G	uc010pdf.2	+	11	1140	c.996A>G	c.(994-996)aaA>aaG	p.K332K	TUFT1_uc001eyl.3_Silent_p.K313K|TUFT1_uc001eym.3_Silent_p.K288K|TUFT1_uc010pdg.2_Silent_p.K261K			Q9NNX1	TUFT1_HUMAN	Homo sapiens tuftelin 1 (TUFT1), transcript variant 1, mRNA.	313					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAATTCAAAAGCTGTGATCC	0.547000													14	102					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946278	46946278	+	Silent	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:46946278G>A	uc010acl.3	-	2	938	c.333C>T	c.(331-333)tcC>tcT	p.S111S	KIAA0226L_uc001vbf.4_Silent_p.S44S|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_5'UTR|KIAA0226L_uc001vbe.4_Silent_p.S111S|KIAA0226L_uc001vbh.4_Silent_p.S111S|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Silent_p.S111S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	111	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CGCTGCCAACGGAGTCTGTGG	0.572000													5	100					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129376780	129376780	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:129376780C>A	uc011maa.2	+	0	59	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	LMX1B_uc004bqi.3_Missense_Mutation_p.Q18K|LMX1B_uc004bqj.3_Missense_Mutation_p.Q18K	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	0					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A17D(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCCTCGCGGGCAGACGGACTG	0.721000									Nail-Patella Syndrome				6	93					4.096e-09	4.76279e-09	1	1	0
DGKK	139189	broad.mit.edu	37	X	50144042	50144042	+	Silent	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:50144042T>C	uc010njr.2	-	7	1448	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	468					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACCATCGCCTTTGGGGTCGC	0.473000													73	209					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54401866	54401866	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:54401866C>G	uc002qcq.1	+	10	1547	c.1265C>G	c.(1264-1266)tCc>tGc	p.S422C	PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.S422C|PRKCG_uc010yeh.1_Missense_Mutation_p.S309C	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	422	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAGCTCCACTCCACCTTCCAG	0.657000													8	60					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30057329	30057329	+	Splice_Site	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:30057329G>A	uc003age.4	+	8	1253	c.810_splice	c.e8+1	p.E270_splice	NF2_uc003afy.4_Splice_Site_p.E270_splice|NF2_uc003afz.4_Splice_Site_p.E187_splice|NF2_uc003agf.4_Splice_Site_p.E270_splice|NF2_uc003agb.4_Splice_Site_p.E193_splice|NF2_uc003agc.4_Splice_Site_p.E232_splice|NF2_uc003agd.4_Splice_Site|NF2_uc003agg.4_Splice_Site_p.E270_splice|NF2_uc003aga.4_Splice_Site_p.E228_splice|NF2_uc003agh.4_Splice_Site_p.E229_splice|NF2_uc003agi.4_Splice_Site_p.E187_splice|NF2_uc003agj.4_Intron	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	270	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(5)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGACAAGGAGGTAGGACATGT	0.532000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				11	23					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103271308	103271308	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:103271308T>A	uc001tjq.1	-	3	846	c.373A>T	c.(373-375)Att>Ttt	p.I125F	PAH_uc010swc.1_Missense_Mutation_p.I125F	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	125					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGCTCTTGAATGGTTCTTGGG	0.507000													4	63					0	0	1	0	0
MIRLET7BHG	400931	broad.mit.edu	37	22	46501510	46501510	+	Silent	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:46501510C>T	uc003bgr.4	+	4	505	c.429C>T	c.(427-429)tcC>tcT	p.S143S	MIRLET7BHG_uc003bgu.2_Intron|MIRLET7BHG_uc003bgt.4_Intron					Homo sapiens MIRLET7B host gene (non-protein coding) (MIRLET7BHG), non-coding RNA.																		CAGAACATTCCGTCACCACGA	0.642000													23	57					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80333066	80333066	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:80333066C>A	uc010wvl.2	+	0	866	c.866C>A	c.(865-867)gCg>gAg	p.A289E		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	289						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCCCCGCTGGCGCCGCGGACG	0.672000													7	53					0.00136819	0.00147118	1	1	0
MBOAT7	79143	broad.mit.edu	37	19	54684811	54684811	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:54684811T>C	uc002qdq.3	-	6	799	c.533A>G	c.(532-534)gAg>gGg	p.E178G	MBOAT7_uc010erg.3_Intron|MBOAT7_uc010yem.2_Missense_Mutation_p.E160G|MBOAT7_uc002qdr.3_Missense_Mutation_p.E178G|MBOAT7_uc002qds.3_Missense_Mutation_p.E105G|MBOAT7_uc010yen.2_Missense_Mutation_p.E105G|MBOAT7_uc002qdt.4_Missense_Mutation_p.E178G	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	178					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGGCTGCTCCAGCCAGTC	0.721000											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	22					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959173	9959173	+	Silent	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:9959173C>T	uc003bua.3	+	0	392	c.174C>T	c.(172-174)agC>agT	p.S58S	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Intron|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Intron|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	58						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAAGCCTTAGCCTGGCTCCTG	0.592000													16	147					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75500838	75500838	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr15:75500838A>G	uc002azp.4	+	1	2769	c.2449A>G	c.(2449-2451)Aag>Gag	p.K817E	C15orf39_uc002azq.4_Missense_Mutation_p.K817E|C15orf39_uc021sqm.1_Missense_Mutation_p.K576E|C15orf39_uc002azr.4_Missense_Mutation_p.K215E	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	817										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGCTGGCCAAGCTGCTGTC	0.667000													6	30					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111554	145111554	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr8:145111554C>T	uc003zar.3	-	12	1893	c.1811G>A	c.(1810-1812)cGt>cAt	p.R604H	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	604							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GTCCCCCGCACGGGGCGAGCG	0.667000													3	84					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572149	120572149	+	Silent	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:120572149G>C	uc001txo.3	-	52	7276	c.7263C>G	c.(7261-7263)gcC>gcG	p.A2421A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2421					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGGATGACGGCATCCACTT	0.592000													7	46					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1332242	1332242	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr4:1332242G>A	uc003gda.3	+	7	962	c.932G>A	c.(931-933)aGc>aAc	p.S311N	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.S270N|MAEA_uc011bvb.2_Missense_Mutation_p.S243N|MAEA_uc003gdc.3_Missense_Mutation_p.S243N|MAEA_uc011bvc.2_Missense_Mutation_p.S310N|MAEA_uc011bvd.2_Missense_Mutation_p.S263N|MAEA_uc010ibt.3_Missense_Mutation_p.S84N	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	311					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.S311S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AGCTCCAAGAGCCCTGACTGC	0.662000													13	43					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271296	22271296	+	Silent	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:22271296G>A	uc010ecx.3	+	3	913	c.744G>A	c.(742-744)aaG>aaA	p.K248K	ZNF257_uc010ecy.3_Silent_p.K216K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCAACATAAGGTAATTCATA	0.388000													6	48					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687435	27687435	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:27687435C>T	uc001bny.1	-	13	2146	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	MAP3K6_uc009vsw.1_Missense_Mutation_p.E625K|MAP3K6_uc001bnz.1_Missense_Mutation_p.E156K	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	633					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGCGCCCTCCGCCTCCTCC	0.736000													26	52					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61823266	61823266	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:61823266G>C	uc002eog.2	-	7	2353	c.1398C>G	c.(1396-1398)atC>atG	p.I466M	CDH8_uc002eoh.3_Missense_Mutation_p.I235M	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGTAGCAATGATTGTTATGT	0.403000													9	121					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058716	9058716	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:9058716G>C	uc002mkp.3	-	2	28934	c.28730C>G	c.(28729-28731)tCa>tGa	p.S9577*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9579	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGACATTGACTCTATCTC	0.488000													25	100					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13561621	13561621	+	Silent	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr20:13561621C>T	uc002woi.3	-	5	528	c.411G>A	c.(409-411)aaG>aaA	p.K137K	TASP1_uc010zri.1_Intron|TASP1_uc010zrj.1_Non-coding_Transcript	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	137					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGACTGGGTTCTTGATTCCta	0.408000													4	19					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:117869470G>T	uc001prv.3	+	6	928	c.851G>T	c.(850-852)cGt>cTt	p.R284L	IL10RA_uc010rxl.2_Missense_Mutation_p.R264L|IL10RA_uc010rxm.2_Missense_Mutation_p.R264L|IL10RA_uc010rxn.2_Missense_Mutation_p.R135L|IL10RA_uc001prw.3_Missense_Mutation_p.R135L	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	284						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582000													17	79					3.41278e-10	4.01504e-10	1	1	0
CARD11	84433	broad.mit.edu	37	7	2956956	2956956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr7:2956956G>A	uc003smv.3	-	19	3005	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	891					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGCTTGCTCGCGAGAGACGG	0.557000			Mis		DLBCL								3	25					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122757675	122757675	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:122757675T>C	uc004etu.3	-	27	3498	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1156					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCTTCTCTTTTTCTTCTTGG	0.348000													6	30					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75960882	75960882	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:75960882A>T	uc003kek.3	+	21	2783	c.2561A>T	c.(2560-2562)aAg>aTg	p.K854M	IQGAP2_uc010izv.2_Missense_Mutation_p.K407M|IQGAP2_uc011csv.2_Missense_Mutation_p.K350M|IQGAP2_uc003kel.3_Missense_Mutation_p.K350M	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	854					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGCTGAACAAGAAAAAAGGA	0.328000													3	104					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625014	31625014	+	Silent	SNP	C	C	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr6:31625014C>G	uc003nvl.3	+	2	355	c.282C>G	c.(280-282)ctC>ctG	p.L94L	APOM_uc003nvk.3_Silent_p.L22L	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	94					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						AAGATGGGCTCTGTGTGCCCC	0.507000													4	71					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033363	34033363	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:34033363C>A	uc001bxm.1	-	52	8387	c.8210G>T	c.(8209-8211)gGa>gTa	p.G2737V	CSMD2_uc001bxn.1_Missense_Mutation_p.G2714V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2714	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.G2736V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCACAGTGTCCAGCTTTGGT	0.542000													13	84					0.000151284	0.000166247	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81197248	81197248	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:81197248C>T	uc002fgh.1	-	20	3434	c.3434G>A	c.(3433-3435)aGt>aAt	p.S1145N	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1145					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAGTTGACCACTAGGGCTGGT	0.532000													18	61					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3817823	3817823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:3817823C>A	uc002cvv.3	-	15	3352	c.3148G>T	c.(3148-3150)Gaa>Taa	p.E1050*	CREBBP_uc002cvw.3_Nonsense_Mutation_p.E1012*	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1050					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGTTTCTTTTCATCCACTTCC	0.433000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						22	65					9.80776e-20	1.19607e-19	1	1	0
IKZF5	64376	broad.mit.edu	37	10	124754057	124754057	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr10:124754057T>C	uc001lha.2	-	4	798	c.499A>G	c.(499-501)Aaa>Gaa	p.K167E	AK023288_uc021qaj.1_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTAGTACCTTTAATTGGTACC	0.408000													6	96					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153792180	153792180	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:153792180G>C	uc001fdb.4	-	2	611	c.367C>G	c.(367-369)Cca>Gca	p.P123A		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	123						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGATGTCTGGTGAGGGAGTT	0.408000													10	110					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48888986	48888986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:48888986G>A	uc004dmb.3	-	8	1448	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	TFE3_uc004dmc.3_Nonsense_Mutation_p.Q299*	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	404					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TTGGAGCGCTGCTGCTCCTTC	0.602000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								3	56					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103328750	103328750	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:103328750G>T	uc001vpi.4	+	27	3748	c.3645G>T	c.(3643-3645)tgG>tgT	p.W1215C		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1215					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAAAACTGGAAAAATTGTA	0.303000													6	78					0.00829132	0.00882055	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60895706	60895706	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr20:60895706A>C	uc002ycq.3	-	49	6735	c.6668T>G	c.(6667-6669)cTg>cGg	p.L2223R	LAMA5_uc021wfw.1_Missense_Mutation_p.L2223R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2223	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L2223R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGGGGCCCAGGGGGCTCCG	0.706000													4	38					0	0	1	0	0
BC019672	0	broad.mit.edu	37	17	20319971	20319971	+	RNA	SNP	G	G	A	rs71263795		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:20319971G>A	uc010vzg.1	+	1		c.342G>A			BC019672_uc002gwx.3_Non-coding_Transcript					Homo sapiens cDNA FLJ59693 complete cds, moderately similar to Ankyrin repeat domain-containing protein 26.																		CTCTCATTACGCTTGATTGCC	0.557000													5	39					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133914285	133914285	+	Silent	SNP	G	G	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:133914285G>A	uc004caa.1	+	4	1109	c.1011G>A	c.(1009-1011)acG>acA	p.T337T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	337	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGGAATGCACGTTTGATCGGG	0.617000													6	40					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35723291	35723291	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:35723291A>C	uc003ann.3	+	6	801	c.676A>C	c.(676-678)Atg>Ctg	p.M226L	TOM1_uc011ami.2_Missense_Mutation_p.M193L|TOM1_uc003anp.3_Missense_Mutation_p.M226L|TOM1_uc011aml.2_Missense_Mutation_p.M181L|TOM1_uc011amk.2_Missense_Mutation_p.M188L|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.M69L	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	226	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGAGCTGGAGATGGTGAGTGG	0.607000													7	47					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3438998	3438998	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:3438998G>T	uc002fvr.2	-	6	975	c.653C>A	c.(652-654)gCg>gAg	p.A218E	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.A202E|TRPV3_uc010vri.1_Missense_Mutation_p.A173E|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.A218E|TRPV3_uc010vrj.1_Missense_Mutation_p.A202E|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.A202E|TRPV3_uc002fvu.3_Missense_Mutation_p.A218E	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	218						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGTTCAGCGCCGTCTGCCC	0.736000													7	65					2.0095e-06	2.30977e-06	1	1	0
WDR67	93594	broad.mit.edu	37	8	124094982	124094982	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr8:124094982C>A	uc003ypp.2	+	2	355	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	WDR67_uc011lig.2_Missense_Mutation_p.L89M|WDR67_uc011lih.2_Intron|WDR67_uc003ypq.2_Intron|WDR67_uc003ypo.1_Missense_Mutation_p.L89M	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	89						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGCACAGCTCTGGCCTTTAA	0.343000													3	23					0.00909568	0.00947467	1	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24167593	24167593	+	Splice_Site	SNP	A	A	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr13:24167593A>C	uc001uov.2	+	3	384	c.180_splice	c.e3+1	p.K60_splice	TNFRSF19_uc001uot.3_Splice_Site_p.K60_splice|TNFRSF19_uc010tcu.2_Intron|TNFRSF19_uc001uow.3_Splice_Site_p.K60_splice|TNFRSF19_uc001uou.3_Splice_Site_p.K60_splice	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	60					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GAGTTGTCTAAGGTATATTGG	0.408000													13	80					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117052570	117052570	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:117052570C>A	uc011lxl.2	+	46	4327	c.4327C>A	c.(4327-4329)Cca>Aca	p.P1443T	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1443	Collagen-like 14.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATCGCTGGACCAGATGGGCT	0.637000													3	103					1	1	1	1	0
UTP20	27340	broad.mit.edu	37	12	101720912	101720912	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:101720912C>A	uc001tia.1	+	25	3251	c.3095C>A	c.(3094-3096)tCt>tAt	p.S1032Y		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1032					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAGGGGAAATCTGCTTCAGGC	0.453000													9	52					2.68362e-12	3.19479e-12	1	1	0
TRIM32	22954	broad.mit.edu	37	9	119461631	119461631	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:119461631T>A	uc022bmo.1	+	0	1610	c.1610T>A	c.(1609-1611)cTg>cAg	p.L537Q	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.L537Q|TRIM32_uc004bjx.2_Missense_Mutation_p.L537Q	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	537					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GGCCTCAATCTGGAGAATCGG	0.557000													12	116					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71255378	71255378	+	Missense_Mutation	SNP	G	G	A	rs143260694	byFrequency	TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr10:71255378G>A	uc001jpo.1	+	3	511	c.386G>A	c.(385-387)cGa>cAa	p.R129Q		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	129						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GACAACATTCGAAGAGGAATT	0.438000													14	50					0	0	1	0	0
UBE2Q2P1	388165	broad.mit.edu	37	15	85085493	85085493	+	RNA	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr15:85085493C>A	uc002bkn.1	-	3		c.1476G>T								Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 (UBE2Q2P1), non-coding RNA.																		TTTCATCTCACAGTGATCTAA	0.358000													6	11					0.248553	0.251063	1	1	0
MLL3	58508	broad.mit.edu	37	7	151945198	151945198	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr7:151945198G>C	uc003wla.3	-	13	2540	c.2321C>G	c.(2320-2322)gCa>gGa	p.A774G		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	774					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTTATGTCTGCTGATGATGA	0.423000			N		medulloblastoma								11	384					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41022128	41022128	+	Silent	SNP	T	T	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:41022128T>C	uc004dfb.3	+	14	2616	c.1983T>C	c.(1981-1983)ctT>ctC	p.L661L	USP9X_uc004dfc.3_Silent_p.L661L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	661					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAACTTCCTTAGGTTTGTTT	0.368000													6	167					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94052953	94052953	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr14:94052953G>C	uc001ybv.1	+	17	2367	c.2284G>C	c.(2284-2286)Gat>Cat	p.D762H	UNC79_uc001ybs.1_Missense_Mutation_p.D762H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	939						integral to membrane		p.S762S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTAAAGAATGATACCGAAAG	0.333000													4	20					0	0	1	0	0
BC073927	0	broad.mit.edu	37	11	71513937	71513937	+	RNA	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:71513937C>A	uc001oqx.1	-	2		c.663G>T								Homo sapiens cDNA clone IMAGE:5297769.																		AGGCAAACAGCTCCTGAACAT	0.577000													4	51					0.150653	0.153728	1	1	0
CD59	966	broad.mit.edu	37	11	33731752	33731752	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:33731752C>T	uc001mus.4	-	2	589	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	CD59_uc009yjx.3_Missense_Mutation_p.G103S|CD59_uc009yjy.3_Missense_Mutation_p.G103S|CD59_uc009yjz.3_Missense_Mutation_p.G103S|CD59_uc001mut.4_Missense_Mutation_p.G103S|CD59_uc009yka.3_Missense_Mutation_p.G103S|CD59_uc001muu.4_Missense_Mutation_p.G103S|CD59_uc001muv.4_Missense_Mutation_p.G103S	NM_001127223	NP_976076	P13987	CD59_HUMAN	Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.	103	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GATGTCCCACCATTTTCAAGC	0.473000													20	153					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111297955	111297955	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:111297955C>T	uc003dxw.3	+	4	843	c.673C>T	c.(673-675)Ctt>Ttt	p.L225F	CD96_uc003dxv.3_Missense_Mutation_p.L209F|CD96_uc003dxx.3_Missense_Mutation_p.L209F|CD96_uc010hpy.1_Missense_Mutation_p.L209F	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	225	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGAGTCAAGCTTGGTACAGA	0.423000									Opitz Trigonocephaly syndrome				11	138					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15316764	15316764	+	Splice_Site	SNP	T	T	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr18:15316764T>A	uc002ktd.1	-	5		c.270_splice	c.e5-1							Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		AGATGTTCCTTCTGCCAAACA	0.428000													3	95					0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41444913	41444913	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr19:41444913C>A	uc010ehg.1	+	3	532	c.524C>A	c.(523-525)aCc>aAc	p.T175N	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.T175N|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CATTCCATTACCGCCAACATC	0.512000													5	22					0.00116845	0.00127005	1	1	0
CTAGE1	64693	broad.mit.edu	37	18	19995948	19995948	+	Silent	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr18:19995948G>C	uc002ktv.1	-	0	1931	c.1827C>G	c.(1825-1827)ctC>ctG	p.L609L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	609						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TAAAACTTCTGAGTTCTGCTG	0.388000													8	91					0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3751742	3751742	+	Silent	SNP	G	G	T			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr6:3751742G>T	uc003mvt.2	-	0	505	c.24C>A	c.(22-24)ggC>ggA	p.G8G		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	Homo sapiens PX domain containing 1 (PXDC1), mRNA.	8	PX.				cell communication		phosphatidylinositol binding										CGAGCGACGTGCCCTCAAACA	0.726000													3	54					1.23904e-05	1.39218e-05	1	1	0
UBE2I	7329	broad.mit.edu	37	16	1370453	1370453	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:1370453A>G	uc002clc.2	+	5	478	c.348A>G	c.(346-348)atA>atG	p.I116M	UBE2I_uc002cld.2_Missense_Mutation_p.I116M|UBE2I_uc002clf.2_Missense_Mutation_p.I116M|UBE2I_uc002clg.2_Missense_Mutation_p.I116M|UBE2I_uc002clh.1_Missense_Mutation_p.I116M|UBE2I_uc002cli.1_Missense_Mutation_p.I116M	NM_194261	NP_919237	P63279	UBC9_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2I (UBE2I), transcript variant 4, mRNA.	116					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	PML body|cytoplasm|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				TATTAGGAATACAGGAACTTC	0.512000													5	28					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352683	117352683	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:117352683G>C	uc001prh.1	-	11	2736	c.2734C>G	c.(2734-2736)Ctg>Gtg	p.L912V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	852	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTCACCTTCAGTGTGGAGACG	0.622000													25	58					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16459720	16459721	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:16459720_16459721insTG	uc001aya.2	-	10	2162_2163	c.2007_2008insCA	c.(2005-2010)cagttcfs	p.Q669fs		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	669	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGGTGGCTGAACTGGCCCATGA	0.629													13	45	---	---	---	---					
NASP	4678	broad.mit.edu	37	1	46073053	46073073	+	In_Frame_Del	DEL	CCAAAAAAACAGAAGACAAGT	CCAAAAAAACAGAAGACAAGT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:46073053_46073073delCCAAAAAAACAGAAGACAAGT	uc001coi.2	+	5	629_649	c.470_490delCCAAAAAAACAGAAGACAAGT	c.(469-492)gccaaaaaaacagaagacaagtct>gct	p.KKTEDKS158del	NASP_uc010olq.2_In_Frame_Del_p.KKTEDKS121del|NASP_uc021omz.1_In_Frame_Del_p.KKTEDKS160del|NASP_uc001coj.2_Intron|NASP_uc010olr.2_In_Frame_Del_p.KKTEDKS94del|NASP_uc001cok.2_In_Frame_Del_p.KKTEDKS41del	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	158	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAAGAAGAAGCCAAAAAAACAGAAGACAAGTCTTTGGCAAA	0.412													13	164	---	---	---	---					
PHTF1	10745	broad.mit.edu	37	1	114255942	114255943	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:114255942_114255943delTT	uc009wgp.1	-	6	1193_1194	c.741_742delAA	c.(739-744)acaagafs	p.T247fs	PHTF1_uc001edn.3_Frame_Shift_Del_p.T247fs|PHTF1_uc001edm.2_Frame_Shift_Del_p.T4fs|PHTF1_uc001edo.1_Frame_Shift_Del_p.T4fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	247						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTTCTCTCTTGTTTGCCACA	0.371													20	61	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	uc021ozo.1	+	0	163_186	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_uc001fax.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001faz.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001fay.2_Splice_Site_p.K60_splice	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.E95G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													20	82	---	---	---	---					
SOCS5	9655	broad.mit.edu	37	2	46987222	46987224	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:46987222_46987224delATT	uc021vgx.1	+	0	1553_1555	c.1553_1555delATT	c.(1552-1557)cattat>cat	p.Y519del	SOCS5_uc002rvf.3_In_Frame_Del_p.Y519del|SOCS5_uc002rvg.3_In_Frame_Del_p.Y519del	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	519	SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAAGAGTATCATTATAAACAAAA	0.433													10	205	---	---	---	---					
ASPRV1	151516	broad.mit.edu	37	2	70188625	70188626	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:70188625_70188626delAG	uc002sfz.4	-	0	772_773	c.195_196delCT	c.(193-198)ctctgtfs	p.L65fs		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	65					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGAAACCCACAGAGCAGTGTCG	0.653													14	152	---	---	---	---					
TTL	150465	broad.mit.edu	37	2	113260608	113260609	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:113260608_113260609delAT	uc002thu.3	+	4	904_905	c.725_726delAT	c.(724-726)aatfs	p.N242fs		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	242	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CATTTGACCAATCACTGCATTC	0.376			T	ETV6	ALL								33	90	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242433486	242433487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr2:242433486_242433487insG	uc002wbi.2	+	26	3275_3276	c.3111_3112insG	c.(3109-3114)gatggcfs	p.D1037fs		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	1037					Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCGTGCAGGATGGCCCCCAACC	0.634													8	393	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	AGC	-	rs76272937		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
GOLGA4	2803	broad.mit.edu	37	3	37365077	37365078	+	Splice_Site	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:37365077_37365078delAG	uc003cgv.3	+	14	2062	c.1702_splice	c.e14-1	p.R568_splice	GOLGA4_uc010hgr.2_Splice_Site_p.R129_splice|GOLGA4_uc003cgw.3_Splice_Site_p.R590_splice|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Splice_Site_p.R449_splice	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	568	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTAATTAACAGAGAATTCTTG	0.307													33	94	---	---	---	---					
NFKBIZ	64332	broad.mit.edu	37	3	101572345	101572345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr3:101572345delC	uc003dvp.3	+	4	1090	c.975delC	c.(973-975)aacfs	p.N325fs	NFKBIZ_uc003dvo.3_Frame_Shift_Del_p.N225fs|NFKBIZ_uc010hpo.3_Frame_Shift_Del_p.N225fs|NFKBIZ_uc003dvq.3_Intron	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	325	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATGAACCAAACCTCTTTGATG	0.468													17	74	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-	rs71180116		TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr4:3076604_3076606delCAG	uc021xkv.1	+	0	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS1_uc021xku.1_5'Flank	NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	38	Poly-Gln.				Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704													3	5	---	---	---	---					
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928645	139928646	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:139928645_139928646delAG	uc003lfs.2	+	34	7988_7989	c.7834_7835delAG	c.(7834-7836)agafs	p.R2612fs	ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Del_p.R1368fs|ANKHD1-EIF4EBP3_uc003lfx.1_Frame_Shift_Del_p.R757fs|EIF4EBP3_uc003lfy.1_Frame_Shift_Del_p.T86fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2612						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGGAGACAGAGGAAGAGAT	0.564													12	77	---	---	---	---					
PCDHB5	26167	broad.mit.edu	37	5	140515133	140515134	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr5:140515133_140515134delAG	uc003liq.3	+	0	334_335	c.117_118delAG	c.(115-120)acagaafs	p.T39fs		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	39	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAAGAAACAGAAAGTGGCTA	0.490													11	91	---	---	---	---					
ZNF7	7553	broad.mit.edu	37	8	146066868	146066869	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr8:146066868_146066869delTC	uc010mge.3	+	4	546_547	c.409_410delTC	c.(409-411)tctfs	p.S137fs	ZNF7_uc003zeg.4_Frame_Shift_Del_p.S126fs|ZNF7_uc011lln.2_Frame_Shift_Del_p.S30fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Del_p.S30fs|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	126					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGGAGACGTTTCTGATTCTGAG	0.485													10	79	---	---	---	---					
WASH1	100287171	broad.mit.edu	37	9	14511	14513	+	Splice_Site	DEL	TGT	TGT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:14511_14513delTGT	uc010mgm.1	-	11	1837	c.1694_splice	c.e11+1		DDX11L5_uc011llp.1_Non-coding_Transcript	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.						Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAAAGCACACTGTTGGTTTCTGC	0.542													2	4	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40772643	40772644	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:40772643_40772644delCT	uc004abs.2	-	4	2783_2784	c.2631_2632delAG	c.(2629-2634)acagggfs	p.T877fs	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Frame_Shift_Del_p.T877fs	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTTTCTCCCCTGTGTGAATTC	0.441													7	83	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													3	3	---	---	---	---					
PITRM1	10531	broad.mit.edu	37	10	3207428	3207429	+	Splice_Site	DEL	AC	AC	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr10:3207428_3207429delAC	uc009xhv.2	-	6	699	c.630_splice	c.e6+1	p.F210_splice	PITRM1_uc001igr.2_Splice_Site_p.F210_splice|PITRM1_uc001igt.2_Splice_Site_p.F210_splice|PITRM1_uc010qah.2_Splice_Site_p.F178_splice|PITRM1_uc001igu.1_Splice_Site_p.F202_splice|PITRM1_uc010qai.2_Splice_Site_p.F181_splice|BC039685_uc001igx.1_Intron	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	178					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AAGAAAACTTACAAACGCTCCC	0.411													9	85	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62285795	62285796	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:62285795_62285796delAG	uc001ntl.3	-	4	16393_16394	c.16093_16094delCT	c.(16093-16095)ctgfs	p.L5365fs	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5365					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGTCCCCTCAGTGTCACATCT	0.545													16	135	---	---	---	---					
MTA2	9219	broad.mit.edu	37	11	62364175	62364176	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:62364175_62364176delCT	uc001ntq.2	-	8	1205_1206	c.815_816delAG	c.(814-816)gagfs	p.E272fs	MTA2_uc010rlx.1_Frame_Shift_Del_p.E99fs	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	272	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ATAGCATGGCCTCTGAGGCTGA	0.550													24	111	---	---	---	---					
OR8D1	283159	broad.mit.edu	37	11	124180084	124180085	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr11:124180084_124180085delGT	uc010sag.2	-	0	578_579	c.578_579delAC	c.(577-579)cacfs	p.H193fs		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H193Q(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCATTGAGGTGTGTGTTGGA	0.460													45	171	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40742254	40742254	+	Frame_Shift_Del	DEL	G	G	-	rs10878405	byFrequency	TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:40742254delG	uc001rmg.4	+	42	6445	c.6324delG	c.(6322-6324)gagfs	p.E2108fs	LRRK2_uc009zjw.3_Frame_Shift_Del_p.E946fs|LRRK2_uc001rmi.3_Frame_Shift_Del_p.E941fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2108	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATGGTTGAGAAATTAATTA	0.308													9	140	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40742257	40742259	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:40742257_40742259delATT	uc001rmg.4	+	42	6448_6450	c.6327_6329delATT	c.(6325-6330)aaatta>aaa	p.L2110del	LRRK2_uc009zjw.3_In_Frame_Del_p.L948del|LRRK2_uc001rmi.3_In_Frame_Del_p.L943del	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2110	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGTTGAGAAATTAATTAAACAG	0.315													9	135	---	---	---	---					
SOAT2	8435	broad.mit.edu	37	12	53499371	53499372	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr12:53499371_53499372delAG	uc001sbv.3	+	3	390_391	c.302_303delAG	c.(301-303)cagfs	p.Q101fs	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	101					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CTGGGGAAACAGAAAGTTTTCA	0.500													9	80	---	---	---	---					
CEP128	145508	broad.mit.edu	37	14	81251281	81251284	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr14:81251281_81251284delCTTA	uc001xux.2	-	13	2337_2340	c.2166_2169delTAAG	c.(2164-2169)tttaagfs	p.F722fs	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	722						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTTTTCTTTCTTAAAGTGCTTCA	0.412													25	51	---	---	---	---					
SPIRE2	84501	broad.mit.edu	37	16	89924825	89924826	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr16:89924825_89924826delAG	uc002foz.1	+	7	1234_1235	c.1182_1183delAG	c.(1180-1185)acagatfs	p.T394fs	SPIRE2_uc010civ.1_Frame_Shift_Del_p.T309fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.T394fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.T346fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.T261fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	394					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGTCAGTCACAGATGCTGGGGG	0.629													12	89	---	---	---	---					
C17orf80	55028	broad.mit.edu	37	17	71232036	71232037	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr17:71232036_71232037delCA	uc002jjm.4	+	2	609_610	c.415_416delCA	c.(415-417)cagfs	p.Q139fs	C17orf80_uc010wqu.1_Frame_Shift_Del_p.Q139fs|C17orf80_uc010dfj.3_Frame_Shift_Del_p.Q139fs|C17orf80_uc002jjk.1_Frame_Shift_Del_p.Q139fs|C17orf80_uc002jjl.4_Frame_Shift_Del_p.Q139fs	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	139						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AACCAAGGCTCAGTTTTACGCA	0.381													12	184	---	---	---	---					
C22orf39	128977	broad.mit.edu	37	22	19435297	19435299	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:19435297_19435299delAGA	uc002zpk.2	-	0	457_459	c.24_26delTCT	c.(22-27)cttctg>ctg	p.8_9LL>L	HIRA_uc010gro.2_5'UTR|HIRA_uc010grp.3_Non-coding_Transcript|C22orf39_uc002zpi.3_In_Frame_Del_p.8_9LL>L	NM_173793	NP_776154	Q6P5X5	CV039_HUMAN	Homo sapiens chromosome 22 open reading frame 39 (C22orf39), transcript variant 1, mRNA.	0												Colorectal(54;0.0993)					ATCGACTGACAGAAGAACTAATG	0.591													14	293	---	---	---	---					
TEX33	339669	broad.mit.edu	37	22	37396006	37396008	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chr22:37396006_37396008delTCA	uc003aqf.3	-	3	653_655	c.507_509delTGA	c.(505-510)gatgaa>gaa	p.D169del	TEX33_uc003aqe.3_In_Frame_Del_p.D84del	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	169																	CTCGAAGACTTCATCAATAGCCT	0.542													25	64	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39913206	39913207	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P4-A5EA-01A-11D-A28G-10	TCGA-P4-A5EA-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0451b7be-d503-4cad-88a1-322496cffb25	5d70fe2b-81f9-4b9e-8410-3ccf2035292a	g.chrX:39913206_39913207delAC	uc004den.4	-	13	5200_5201	c.4908_4909delGT	c.(4906-4911)gtgtttfs	p.V1636fs	BCOR_uc004dep.4_Frame_Shift_Del_p.V1602fs|BCOR_uc004deo.4_Frame_Shift_Del_p.V1584fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.V344fs|BCOR_uc004dem.4_Frame_Shift_Del_p.V1602fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1636					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.K1637*(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCAAATTCAAACACATCGCTAT	0.465			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						19	215	---	---	---	---					
