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
KIAA0319L	79932	broad.mit.edu	37	1	35908550	35908550	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:35908550C>T	ENST00000325722.3	-	18	2970	c.2736G>A	c.(2734-2736)gaG>gaA	p.E912E	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.E349E	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	912						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGATGAAATTCTCCATCCAAA	0.517000													19	40					0	0	0.204396	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528366	34528366	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:34528366C>G	ENST00000354181.3	-	24	3569	c.3077G>C	c.(3076-3078)cGa>cCa	p.R1026P	SLC12A6_ENST00000558589.1_Missense_Mutation_p.R1017P|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R1026P|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R838P|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R967P|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R1026P|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R967P|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R975P|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R838P|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R1011P			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1026					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTGGTCAATCGTAGCATTGA	0.438000													7	61					0	0	0.248553	0	0
SCN2A	6326	broad.mit.edu	37	2	166152499	166152499	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:166152499T>A	ENST00000375437.2	+	2	456	c.166T>A	c.(166-168)Ttg>Atg	p.L56M	SCN2A_ENST00000375427.2_Missense_Mutation_p.L56M|SCN2A_ENST00000283256.6_Missense_Mutation_p.L56M|SCN2A_ENST00000357398.3_Missense_Mutation_p.L56M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	56					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAACAGTGACTTGGAAGCAGG	0.448000													6	58					0	0	0.217242	0	0
WDR70	55100	broad.mit.edu	37	5	37727103	37727103	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:37727103A>T	ENST00000265107.4	+	17	1989	c.1833A>T	c.(1831-1833)aaA>aaT	p.K611N		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	611										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCATGCCAAAGCAGCAGAAG	0.428000													15	169					0	0	0.160694	0	0
M1AP	130951	broad.mit.edu	37	2	74842217	74842217	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:74842217C>G	ENST00000290536.5	-	3	416	c.300G>C	c.(298-300)caG>caC	p.Q100H	M1AP_ENST00000536235.1_Missense_Mutation_p.Q100H|M1AP_ENST00000409585.1_Missense_Mutation_p.Q100H|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein																		ACCCTTCTCTCTGTAACATGC	0.483000													16	172					0	0	0.175082	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815376	147815376	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:147815376G>A	ENST00000361727.3	+	16	3066	c.2550G>A	c.(2548-2550)ctG>ctA	p.L850L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	850	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCTGGAGCTGAAGTGTGAGT	0.463000										HNSCC(39;0.1)			5	45					0	0	0.184627	0	0
DHX58	79132	broad.mit.edu	37	17	40263805	40263805	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:40263805A>G	ENST00000251642.3	-	3	328	c.106T>C	c.(106-108)Tat>Cat	p.Y36H		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	36	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGCCACATAAGCAGCCGCC	0.602000													16	147					0	0	0.146539	0	0
DTX2	113878	broad.mit.edu	37	7	76112462	76112462	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:76112462C>T	ENST00000324432.5	+	5	1416	c.906C>T	c.(904-906)gtC>gtT	p.V302V	DTX2_ENST00000446820.2_Silent_p.V302V|DTX2_ENST00000307569.8_Silent_p.V302V|DTX2_ENST00000430490.2_Silent_p.V302V|DTX2_ENST00000413936.2_Silent_p.V302V|DTX2_ENST00000446600.1_Silent_p.V211V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	302					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCGGTGCAGTCAGGTATCGTG	0.657000													5	108					0	0	0.184627	0	0
PCDH15	65217	broad.mit.edu	37	10	55569078	55569078	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:55569078C>T	ENST00000395445.1	-	36	5126	c.4732G>A	c.(4732-4734)Gat>Aat	p.D1578N	PCDH15_ENST00000395440.1_Missense_Mutation_p.D512N|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.D443N|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.D774N	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATCTTTATCTTCTTCCTCA	0.413000										HNSCC(58;0.16)			5	72					0	0	0.217242	0	0
PLCB3	5331	broad.mit.edu	37	11	64023962	64023962	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:64023962G>T	ENST00000540288.1	+	9	916	c.813G>T	c.(811-813)caG>caT	p.Q271H	PLCB3_ENST00000279230.6_Missense_Mutation_p.Q271H|PLCB3_ENST00000325234.5_Missense_Mutation_p.Q204H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	271					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGCCCTCCCAGGCCCGGCTGC	0.632000													18	224					1.36565e-18	1.62729e-18	0.264190	1	0
ZNF532	55205	broad.mit.edu	37	18	56585778	56585778	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:56585778A>T	ENST00000336078.4	+	4	1035	c.259A>T	c.(259-261)Aat>Tat	p.N87Y	ZNF532_ENST00000591808.1_Missense_Mutation_p.N87Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.N87Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.N87Y|ZNF532_ENST00000591230.1_Missense_Mutation_p.N87Y	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCCCACTGGCAATGGCTTACA	0.502000													6	45					0	0	0.217242	0	0
RNF213	57674	broad.mit.edu	37	17	78280110	78280110	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:78280110C>G	ENST00000582970.1	+	12	2412	c.2269C>G	c.(2269-2271)Ctc>Gtc	p.L757V	RNF213_ENST00000456466.1_Missense_Mutation_p.L757V|RNF213_ENST00000508628.2_Missense_Mutation_p.L806V|RNF213_ENST00000319921.4_Missense_Mutation_p.L757V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	757										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGACGAGCCTCTCTTCCGGTC	0.473000													15	120					0	0	0.146539	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140790145	140790145	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140790145T>A	ENST00000520790.1	+	1	2376	c.2376T>A	c.(2374-2376)caT>caA	p.H792Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACCTCATGGTGGGGAGG	0.403000													9	62					0	0	0.058154	0	0
TRMT11	60487	broad.mit.edu	37	6	126342384	126342384	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:126342384A>T	ENST00000334379.5	+	12	1339	c.1218A>T	c.(1216-1218)acA>acT	p.T406T	TRMT11_ENST00000368332.3_Silent_p.T406T	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	406					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CCAGTCACACATCAAGGCGCT	0.418000													7	92					0	0	0.248553	0	0
MIA3	375056	broad.mit.edu	37	1	222802891	222802891	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:222802891G>A	ENST00000344922.5	+	4	2354	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	MIA3_ENST00000344441.6_Missense_Mutation_p.E777K|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	777					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAATTGAAGAAAGCAAGCA	0.438000													24	67					0	0	0.294199	0	0
MYO10	4651	broad.mit.edu	37	5	16935895	16935895	+	Splice_Site	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:16935895A>C	ENST00000513610.1	-	1	476		c.e1+1		MYO10_ENST00000507288.1_Splice_Site	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X						axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCGCACTTACCTCGGTGAA	0.672000													5	42					0	0	0.217242	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790065	137790065	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:137790065T>C	ENST00000242375.3	+	5	511	c.469T>C	c.(469-471)Tgc>Cgc	p.C157R	AKR1D1_ENST00000432161.1_Missense_Mutation_p.C157R|AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	157					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GATGGAAGCTTGCAAAGACGC	0.458000													21	234					0	0	0.249174	0	0
MICALCL	84953	broad.mit.edu	37	11	12345541	12345541	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:12345541G>C	ENST00000256186.2	+	5	1850	c.1559G>C	c.(1558-1560)aGa>aCa	p.R520T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	520					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AAGACACTTAGAAGAAGAAAG	0.348000													9	51					0	0	0.069234	0	0
VAC14	55697	broad.mit.edu	37	16	70731130	70731130	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:70731130G>T	ENST00000261776.5	-	16	2127	c.1867C>A	c.(1867-1869)Cgc>Agc	p.R623S	VAC14_ENST00000536184.2_Missense_Mutation_p.R55S	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	623					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CACCAGGAGCGGTACAGGCAG	0.617000													6	37					5.18039e-06	5.69937e-06	0.278610	1	0
SGIP1	84251	broad.mit.edu	37	1	67099831	67099831	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:67099831G>T	ENST00000237247.6	+	5	306	c.168G>T	c.(166-168)tcG>tcT	p.S56S	SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000468286.1_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	53					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAGCCCTCTCGTTAACTCTGT	0.507000													3	21					0.004672	0.00479795	0.115264	1	0
NXF2	56001	broad.mit.edu	37	X	101581400	101581400	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:101581400C>T	ENST00000395088.2	+	34	3725	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L	NXF2_ENST00000330252.5_Missense_Mutation_p.P618L|NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000372757.1_Missense_Mutation_p.P618L|NXF2_ENST00000372758.1_Missense_Mutation_p.P618L			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	618	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			endometrium(2)|lung(2)	4						GGCAAGATCCCCGCAGAGGCC	0.507000													11	45					0	0	0.093190	0	0
GALNT5	11227	broad.mit.edu	37	2	158115457	158115457	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:158115457T>C	ENST00000259056.4	+	1	1348	c.863T>C	c.(862-864)tTa>tCa	p.L288S		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	288					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCAAATCGCTTAAGGAAGCAA	0.383000													8	112					0	0	0.047766	0	0
APP	351	broad.mit.edu	37	21	27269975	27269975	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:27269975C>T	ENST00000358918.3	-	15	2119	c.1920G>A	c.(1918-1920)ttG>ttA	p.L640L	APP_ENST00000359726.3_Silent_p.L602L|APP_ENST00000357903.3_Silent_p.L639L|APP_ENST00000440126.3_Silent_p.L634L|APP_ENST00000439274.2_Silent_p.L602L|APP_ENST00000348990.5_Silent_p.L583L|APP_ENST00000346798.3_Silent_p.L658L|APP_ENST00000448388.2_Silent_p.L548L|APP_ENST00000354192.3_Silent_p.L527L	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	658					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGATATTTGTCAACCCAGAAC	0.353000													17	141					0	0	0.160694	0	0
LRGUK	136332	broad.mit.edu	37	7	133868484	133868484	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:133868484A>G	ENST00000285928.2	+	11	1283		c.e11-1			NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing								ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCTGTGTTGTAGCACTCTTCC	0.512000													18	143					0	0	0.175082	0	0
CPA1	1357	broad.mit.edu	37	7	130021687	130021687	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:130021687T>C	ENST00000011292.3	+	3	514	c.364T>C	c.(364-366)Tac>Cac	p.Y122H	CPA1_ENST00000484324.1_Missense_Mutation_p.Y34H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	122					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CTACGCCACCTACCACACCCT	0.652000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	38					0	0	0.278610	0	0
GNLY	10578	broad.mit.edu	37	2	85921593	85921593	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:85921593G>A	ENST00000263863.4	+	1	180	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	GNLY_ENST00000524600.1_Splice_Site_p.G18S|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000409696.3_5'UTR	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	18					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						GGGCAACCCAGGTAAGGCCTT	0.642000													5	50					0	0	0.217242	0	0
ERBB3	2065	broad.mit.edu	37	12	56495809	56495809	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:56495809T>C	ENST00000267101.3	+	28	4439	c.3999T>C	c.(3997-3999)ctT>ctC	p.L1333L	ERBB3_ENST00000415288.2_Silent_p.L1274L|ERBB3_ENST00000549832.1_Silent_p.L453L|ERBB3_ENST00000450146.2_Silent_p.L690L|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Silent_p.L574L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1333					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATAGCAGGCTTTTCCCCAAGG	0.517000													25	290					0	0	0.294199	0	0
CHD7	55636	broad.mit.edu	37	8	61736421	61736421	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:61736421A>G	ENST00000423902.2	+	13	3703	c.3224A>G	c.(3223-3225)tAt>tGt	p.Y1075C	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.Y1075C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1075	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGGGGTCCTATAAGTTTCAT	0.358000													4	46					0	0	0.184627	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369198	82369198	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:82369198G>C	ENST00000339284.2	+	6	1306	c.876G>C	c.(874-876)ccG>ccC	p.P292P	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000470604.2_Silent_p.P291P|SH2D4B_ENST00000313455.4_Silent_p.P244P	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	291										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGGAGCGCCCGCTGCGCCCAG	0.607000													29	81					0	0	0.144211	0	0
UTRN	7402	broad.mit.edu	37	6	145156990	145156990	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:145156990G>C	ENST00000367545.3	+	69	9740	c.9740G>C	c.(9739-9741)aGc>aCc	p.S3247T	UTRN_ENST00000367526.4_Missense_Mutation_p.S802T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3247					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGCCGCAGAGCCCAGCTCAG	0.557000													21	151					0	0	0.139131	0	0
ATP4A	495	broad.mit.edu	37	19	36046679	36046679	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:36046679G>A	ENST00000262623.3	-	13	1933	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	635					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CAATGGCCTTGGCGGTGATGG	0.607000													136	187					0	0	0.139131	0	0
ATP10D	57205	broad.mit.edu	37	4	47559725	47559725	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:47559725A>G	ENST00000273859.3	+	12	2138	c.1869A>G	c.(1867-1869)gaA>gaG	p.E623E	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	623					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGTCTTTGGAAGAGATTAAAA	0.428000													13	57					0	0	0.105934	0	0
SMC4	10051	broad.mit.edu	37	3	160143863	160143863	+	Splice_Site	SNP	G	G	T	rs143540491		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:160143863G>T	ENST00000357388.3	+	17	2931	c.2480G>T	c.(2479-2481)cGt>cTt	p.R827L	SMC4_ENST00000360111.2_Splice_Site_p.R827L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Splice_Site_p.R827L|SMC4_ENST00000469762.1_Splice_Site_p.R802L|SMC4_ENST00000344722.5_Splice_Site_p.R827L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	827					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTTGTAGCGTTTAATAGAG	0.294000													20	268					8.34094e-07	9.29397e-07	0.204396	1	0
VWA3B	200403	broad.mit.edu	37	2	98916601	98916601	+	Silent	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:98916601T>G	ENST00000477737.1	+	25	3546	c.3342T>G	c.(3340-3342)ccT>ccG	p.P1114P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1114										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTATGTCCCTGCCATTGTCA	0.378000													14	281					0	0	0.146539	0	0
MUC16	94025	broad.mit.edu	37	19	9082833	9082833	+	Silent	SNP	A	A	G	rs144558030	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9082833A>G	ENST00000397910.4	-	1	9185	c.8982T>C	c.(8980-8982)taT>taC	p.Y2994Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2995	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						TTGGGTCTGGATAAGACATGC	0.527000													13	129					0	0	0.105934	0	0
OR7G3	390883	broad.mit.edu	37	19	9236949	9236949	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9236949C>T	ENST00000305444.2	-	1	677	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGGAATTTTCATGACAGAGG	0.423000													13	177					0	0	0.105934	0	0
MUC17	140453	broad.mit.edu	37	7	100677232	100677232	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100677232A>G	ENST00000306151.4	+	3	2599	c.2535A>G	c.(2533-2535)tcA>tcG	p.S845S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	845	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTCAGTTCATCTCCTACAC	0.502000													49	522					0	0	0.139131	0	0
JADE2	23338	broad.mit.edu	37	5	133898010	133898010	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:133898010A>C	ENST00000395003.1	+	7	984	c.805A>C	c.(805-807)Agt>Cgt	p.S269R	PHF15_ENST00000361895.2_Missense_Mutation_p.S269R|PHF15_ENST00000282605.4_Missense_Mutation_p.S269R|PHF15_ENST00000402835.1_Missense_Mutation_p.S269R	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		269					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCACTAGAAGTGGGACCAA	0.642000													8	81					0	0	0.058154	0	0
DTNA	1837	broad.mit.edu	37	18	32386222	32386222	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:32386222G>A	ENST00000283365.9	+	6	753	c.402G>A	c.(400-402)atG>atA	p.M134I	DTNA_ENST00000598142.1_Missense_Mutation_p.M134I|DTNA_ENST00000598334.1_Missense_Mutation_p.M134I|DTNA_ENST00000596745.1_Missense_Mutation_p.M134I|DTNA_ENST00000595022.1_Missense_Mutation_p.M134I|DTNA_ENST00000315456.6_Missense_Mutation_p.M134I|DTNA_ENST00000348997.5_Missense_Mutation_p.M134I|DTNA_ENST00000444659.1_Missense_Mutation_p.M134I|DTNA_ENST00000269190.7_Missense_Mutation_p.M134I|DTNA_ENST00000399121.5_Missense_Mutation_p.M134I|DTNA_ENST00000269191.6_Missense_Mutation_p.M134I|DTNA_ENST00000598774.1_Missense_Mutation_p.M134I|DTNA_ENST00000399113.3_Missense_Mutation_p.M134I|DTNA_ENST00000597599.1_Missense_Mutation_p.M134I|DTNA_ENST00000554864.3_Missense_Mutation_p.M134I|DTNA_ENST00000399097.3_5'UTR	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	134	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTGTCAAAATGGCTTTAGCCA	0.348000													4	60					0	0	0.184627	0	0
UTRN	7402	broad.mit.edu	37	6	145156991	145156991	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:145156991C>T	ENST00000367545.3	+	69	9741	c.9741C>T	c.(9739-9741)agC>agT	p.S3247S	UTRN_ENST00000367526.4_Silent_p.S802S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3247					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCCGCAGAGCCCAGCTCAGA	0.557000													21	150					0	0	0.139131	0	0
NMT1	4836	broad.mit.edu	37	17	43175920	43175920	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:43175920G>A	ENST00000592782.1	+	8	1015	c.884G>A	c.(883-885)aGg>aAg	p.R295K	NMT1_ENST00000258960.2_Splice_Site_p.R295K			P30419	NMT1_HUMAN	N-myristoyltransferase 1	295					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GGCACCTGCAGGTAAAACTGT	0.557000													10	80					0	0	0.058154	0	0
NLRP13	126204	broad.mit.edu	37	19	56424293	56424293	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:56424293T>C	ENST00000588751.1	-	5	914	c.890A>G	c.(889-891)gAa>gGa	p.E297G	NLRP13_ENST00000342929.3_Missense_Mutation_p.E297G			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	297	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CATGAACTCTTCAATGGGGGC	0.408000													11	110					0	0	0.093190	0	0
PRODH2	58510	broad.mit.edu	37	19	36302919	36302919	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:36302919C>G	ENST00000301175.3	-	5	787	c.770G>C	c.(769-771)gGa>gCa	p.G257A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	257					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAAGGAGGCTCCTGGCCTTCT	0.662000													12	65					0	0	0.093190	0	0
KCNH4	23415	broad.mit.edu	37	17	40312100	40312100	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:40312100G>A	ENST00000264661.3	-	16	3344	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	KCNH4_ENST00000607371.1_Silent_p.L1004L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	1004					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTGCCTCAAGAGGCTTGGGG	0.647000													6	51					0	0	0.248553	0	0
ZNF93	81931	broad.mit.edu	37	19	20044159	20044159	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:20044159G>T	ENST00000343769.5	+	4	423	c.395G>T	c.(394-396)gGa>gTa	p.G132V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	132						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GGTTATAATGGACTTAACCAG	0.318000													6	96					0.00116845	0.00121634	0.217242	1	0
NPC1	4864	broad.mit.edu	37	18	21128074	21128074	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:21128074T>C	ENST00000269228.5	-	11	2209		c.e11-2		NPC1_ENST00000412552.2_Intron|NPC1_ENST00000540608.1_Splice_Site	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTTTTGATCTAGAAAGGAAA	0.408000													9	114					0	0	0.047766	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091428	19091428	+	RNA	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:19091428T>A	ENST00000365494.1	+	0	100																											ggtagcgttttctcctgagcg	0.488000													14	484					0	0	0.160694	0	0
FCN1	2219	broad.mit.edu	37	9	137801832	137801832	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:137801832C>T	ENST00000371806.3	-	9	884	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	265	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GAAGAACTCACATCATTGTCT	0.478000													31	253					0	0	0.153744	0	0
ATP2A3	489	broad.mit.edu	37	17	3854911	3854911	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:3854911C>T	ENST00000309890.7	-	4	438	c.288G>A	c.(286-288)ctG>ctA	p.L96L	ATP2A3_ENST00000397041.3_Silent_p.L96L|ATP2A3_ENST00000397035.3_Silent_p.L96L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.L96L|ATP2A3_ENST00000397043.3_Silent_p.L96L|ATP2A3_ENST00000359983.3_Silent_p.L96L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	96					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCACGAGGATCAGCATGATGA	0.682000													3	14					0	0	0.115264	0	0
ANLN	54443	broad.mit.edu	37	7	36450187	36450187	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:36450187A>T	ENST00000265748.2	+	6	1382	c.1161A>T	c.(1159-1161)gaA>gaT	p.E387D	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.E387D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	387	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATAGCAAAGAAAGTCCAGCTC	0.423000													11	93					0	0	0.069234	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737603	24737603	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:24737603C>T	ENST00000399409.3	-	10	1513	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D344N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	344					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTCGTGGAGTCCCGGCACCAG	0.622000													10	45					0	0	0.069234	0	0
ABHD2	11057	broad.mit.edu	37	15	89734333	89734333	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:89734333C>G	ENST00000352732.5	+	9	1469	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	ABHD2_ENST00000565973.1_Missense_Mutation_p.L317V|ABHD2_ENST00000355100.3_Missense_Mutation_p.L317V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	317						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTATAACTCCCTGAAGGAATA	0.473000													6	57					0	0	0.278610	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672599	108672599	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:108672599C>A	ENST00000261047.3	-	1	143	c.11G>T	c.(10-12)gGc>gTc	p.G4V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.G4V|GUCA1C_ENST00000471108.1_Missense_Mutation_p.G4V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	4					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TATAGATTTGCCATTCCCCAT	0.428000													12	122					3.03607e-14	3.58621e-14	0.093190	1	0
COL4A1	1282	broad.mit.edu	37	13	110828802	110828802	+	Silent	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:110828802T>G	ENST00000375820.4	-	36	3148	c.3027A>C	c.(3025-3027)ccA>ccC	p.P1009P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1009	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGATCCTTTTGGTCCCGGAA	0.478000													9	85					0	0	0.058154	0	0
LRTM2	654429	broad.mit.edu	37	12	1943628	1943628	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:1943628C>A	ENST00000543818.1	+	5	1696	c.854C>A	c.(853-855)cCg>cAg	p.P285Q	LRTM2_ENST00000299194.1_Missense_Mutation_p.P285Q|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.P285Q|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	285						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGGCTGAGCCGGAGCCGGAG	0.672000													5	46					1.23904e-05	1.34616e-05	0.184627	1	0
OAS2	4939	broad.mit.edu	37	12	113440868	113440868	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:113440868C>A	ENST00000392583.2	+	6	1347	c.1140C>A	c.(1138-1140)aaC>aaA	p.N380K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.N380K	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	380	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTAAAGAAAACTGCTTCCGAC	0.443000													48	395					1.83081e-24	2.19445e-24	0.139131	1	0
HIATL1	84641	broad.mit.edu	37	9	97207303	97207303	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:97207303T>C	ENST00000375344.3	+	6	837	c.568T>C	c.(568-570)Tct>Cct	p.S190P	HIATL1_ENST00000428393.2_Missense_Mutation_p.S125P	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	190					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCATATCTTTCTGCCAGTTA	0.552000													16	166					0	0	0.132662	0	0
YIF1A	10897	broad.mit.edu	37	11	66053209	66053209	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:66053209C>G	ENST00000376901.4	-	5	632	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	YIF1A_ENST00000471387.2_Missense_Mutation_p.V7L|YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000359461.6_Missense_Mutation_p.V150L	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	150					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GCCAGGAGCACGTAAGTAATG	0.572000													4	47					0	0	0.184627	0	0
TRPV4	59341	broad.mit.edu	37	12	110236473	110236473	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:110236473G>A	ENST00000418703.2	-	5	1192	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	TRPV4_ENST00000346520.2_Silent_p.L366L|TRPV4_ENST00000544971.1_Silent_p.L319L|TRPV4_ENST00000261740.2_Silent_p.L366L|TRPV4_ENST00000537083.1_Silent_p.L366L|TRPV4_ENST00000392719.2_Silent_p.L319L|TRPV4_ENST00000541794.1_Silent_p.L319L|TRPV4_ENST00000536838.1_Silent_p.L332L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	366					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGTCGTTGTTGAGCACGGCCT	0.602000													5	57					0	0	0.184627	0	0
ATP5E	514	broad.mit.edu	37	20	57605476	57605476	+	Missense_Mutation	SNP	C	C	T	rs138025844		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:57605476C>T	ENST00000243997.3	-	2	171	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	ATP5E_ENST00000395659.1_Missense_Mutation_p.R14Q|ATP5E_ENST00000395663.1_Missense_Mutation_p.R14Q	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	14					respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			CTGGGAGTATCGGATGTAGCT	0.398000													11	125					0	0	0.069234	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101438445	101438445	+	RNA	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:101438445C>G	ENST00000554693.2	+	0	299				SNORD114-14_ENST00000362723.1_RNA																							CTTCCTGGACCAATGATGACA	0.373000													23	50					0	0	0.249174	0	0
CENPF	1063	broad.mit.edu	37	1	214815489	214815489	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:214815489G>A	ENST00000366955.3	+	12	3976	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1372					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGATGCGGAAGAAAAGTATAT	0.398000													5	75					0	0	0.184627	0	0
LDLR	3949	broad.mit.edu	37	19	11227636	11227636	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:11227636A>T	ENST00000558518.1	+	12	1994	c.1807A>T	c.(1807-1809)Aag>Tag	p.K603*	LDLR_ENST00000535915.1_Nonsense_Mutation_p.K562*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.K603*|LDLR_ENST00000455727.2_Nonsense_Mutation_p.K435*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.K476*|LDLR_ENST00000557933.1_Nonsense_Mutation_p.K603*	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	603					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGAGGATGAAAAGAGGCTGGC	0.537000													15	242					0	0	0.175082	0	0
SLC35D1	23169	broad.mit.edu	37	1	67516174	67516174	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:67516174T>A	ENST00000235345.5	-	5	491	c.406A>T	c.(406-408)Aca>Tca	p.T136S	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T57S	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	136					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCAGAACTGTAAACATTGGC	0.294000													9	33					0	0	0.058154	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583960	145583960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:145583960C>T	ENST00000532887.1	+	3	1391	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	SLC52A2_ENST00000540505.1_Nonsense_Mutation_p.Q182*|SLC52A2_ENST00000329994.2_Nonsense_Mutation_p.Q270*|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Nonsense_Mutation_p.Q270*|SLC52A2_ENST00000527078.1_Nonsense_Mutation_p.Q270*|SLC52A2_ENST00000402965.1_Nonsense_Mutation_p.Q270*			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	270						integral to plasma membrane	receptor activity|riboflavin transporter activity										TAAGGCCTATCAGCTTCTATC	0.632000													14	111					0	0	0.105934	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													4	112					0	0	0.217242	0	0
BAI2	576	broad.mit.edu	37	1	32221918	32221918	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:32221918C>A	ENST00000373658.3	-	4	861	c.520G>T	c.(520-522)Gcg>Tcg	p.A174S	BAI2_ENST00000373655.2_Missense_Mutation_p.A174S|BAI2_ENST00000257070.4_Missense_Mutation_p.A174S|BAI2_ENST00000398538.1_Missense_Mutation_p.A162S|BAI2_ENST00000398542.1_Missense_Mutation_p.A162S|BAI2_ENST00000398547.1_Missense_Mutation_p.A162S|BAI2_ENST00000527361.1_Missense_Mutation_p.A174S|BAI2_ENST00000398556.3_Missense_Mutation_p.A177S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	174					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGCGGGCGCCAGCAGGCGC	0.617000													9	55					3.07112e-06	3.3941e-06	0.080935	1	0
TCHH	7062	broad.mit.edu	37	1	152083727	152083727	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:152083727C>T	ENST00000368804.1	-	2	1965	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	656	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGCTGCTCGCGCCTTTCC	0.662000													213	145					0	0	0.139131	0	0
ADRBK1	156	broad.mit.edu	37	11	67049330	67049330	+	Silent	SNP	C	C	T	rs150930474		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:67049330C>T	ENST00000308595.5	+	11	1154	c.864C>T	c.(862-864)gtC>gtT	p.V288V	ADRBK1_ENST00000526285.1_Silent_p.V288V	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	288	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCACGGGGTCTTCTCAGAGG	0.647000													6	84					0	0	0.217242	0	0
LAMA3	3909	broad.mit.edu	37	18	21416982	21416982	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:21416982C>A	ENST00000313654.9	+	25	3263	c.3022C>A	c.(3022-3024)Cgc>Agc	p.R1008S	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1008S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1008	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACATGAGCCGCATCGCCAT	0.488000													5	39					4.096e-09	4.69269e-09	0.217242	1	0
DMRT2	10655	broad.mit.edu	37	9	1056642	1056642	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:1056642A>G	ENST00000382251.3	+	5	1384	c.1055A>G	c.(1054-1056)gAc>gGc	p.D352G	DMRT2_ENST00000358146.2_Missense_Mutation_p.D352G|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.D352G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	352					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CCCATTAGCGACACCCTCCTC	0.512000													30	56					0	0	0.163468	0	0
AFAP1	60312	broad.mit.edu	37	4	7870360	7870360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:7870360G>A	ENST00000420658.1	-	3	486	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	AFAP1_ENST00000382543.3_Nonsense_Mutation_p.Q72*|AFAP1_ENST00000360265.4_Nonsense_Mutation_p.Q72*|AFAP1_ENST00000358461.2_Nonsense_Mutation_p.Q72*	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	72	Pro-rich.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGCCAGGGCTGAGGGATCTCC	0.597000													7	34					0	0	0.058154	0	0
BAI3	577	broad.mit.edu	37	6	69728361	69728361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:69728361C>T	ENST00000370598.1	+	13	2898	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	693					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GATGGACTTTCAGAATTCATA	0.323000													17	103					0	0	0.175082	0	0
BOC	91653	broad.mit.edu	37	3	112969529	112969529	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:112969529G>C	ENST00000495514.1	+	4	929	c.225G>C	c.(223-225)ctG>ctC	p.L75L	BOC_ENST00000273395.4_Silent_p.L75L|BOC_ENST00000485230.1_Silent_p.L75L|BOC_ENST00000484034.1_Silent_p.L75L|BOC_ENST00000355385.3_Silent_p.L75L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	75	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GAAAGGAGCTGAATGGCTCGG	0.592000													5	64					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	15					0	0	0.119110	0	0
HECW2	57520	broad.mit.edu	37	2	197208413	197208413	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:197208413C>A	ENST00000260983.3	-	3	550	c.368G>T	c.(367-369)tGg>tTg	p.W123L	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCAATTCTCCATACAATTTG	0.373000													29	290					2.24059e-21	2.67511e-21	0.116897	1	0
TAF1L	138474	broad.mit.edu	37	9	32632467	32632467	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:32632467T>C	ENST00000242310.4	-	1	3200	c.3111A>G	c.(3109-3111)aaA>aaG	p.K1037K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1037					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGACAACTTTTTAATCTCTT	0.478000													34	340					0	0	0.173368	0	0
SAA1	6288	broad.mit.edu	37	11	18291391	18291391	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:18291391G>C	ENST00000405158.2	+	4	542	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	SAA1_ENST00000532858.1_Missense_Mutation_p.E120Q|SAA1_ENST00000356524.4_Missense_Mutation_p.E120Q	NM_000331.4	NP_000322	P02735	SAA_HUMAN	serum amyloid A1	120					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGGCCTGCCTGAGAAATACTG	0.577000													16	75					0	0	0.146539	0	0
SPAG16	79582	broad.mit.edu	37	2	215274959	215274959	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:215274959G>C	ENST00000331683.5	+	16	1911	c.1816G>C	c.(1816-1818)Gca>Cca	p.A606P	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.A512P|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	606					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGAAAACGAGGCACACACGGT	0.507000													12	100					0	0	0.093190	0	0
EIF3B	8662	broad.mit.edu	37	7	2400488	2400488	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:2400488G>C	ENST00000360876.4	+	2	699	c.643G>C	c.(643-645)Ggg>Cgg	p.G215R	EIF3B_ENST00000397011.2_Missense_Mutation_p.G215R	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	215	RRM.|Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TTCCAAGTTTGGGAAAATCAC	0.438000													5	53					0	0	0.184627	0	0
ESR2	2100	broad.mit.edu	37	14	64701717	64701717	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:64701717C>T	ENST00000557772.1	-	7	1376	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L	ESR2_ENST00000542956.1_Silent_p.L459L|ESR2_ENST00000358599.5_Silent_p.L459L|ESR2_ENST00000341099.4_Silent_p.L459L|ESR2_ENST00000554572.1_Silent_p.L459L|ESR2_ENST00000555278.1_Silent_p.L459L|ESR2_ENST00000553796.1_Silent_p.L459L|ESR2_ENST00000353772.3_Silent_p.L459L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Silent_p.L368L|ESR2_ENST00000357782.2_Silent_p.L459L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	459	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACAGGAGCATCAGGAGGTTAG	0.587000													34	33					0	0	0.173368	0	0
TGM7	116179	broad.mit.edu	37	15	43585112	43585112	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:43585112G>A	ENST00000452443.2	-	3	238	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	78					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGGTGAGGAAGAATGTGGCTC	0.537000													6	460					0	0	0.248553	0	0
INPPL1	3636	broad.mit.edu	37	11	71941437	71941437	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:71941437G>A	ENST00000541756.1	+	10	1326	c.396G>A	c.(394-396)caG>caA	p.Q132Q	INPPL1_ENST00000538751.1_Silent_p.Q132Q|INPPL1_ENST00000298229.2_Silent_p.Q374Q			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	374					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCGTGTCCAGAACAAGCTGG	0.632000													9	65					0	0	0.058154	0	0
SEMA6D	80031	broad.mit.edu	37	15	48054483	48054483	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:48054483C>T	ENST00000316364.5	+	8	1064	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	SEMA6D_ENST00000389425.3_Missense_Mutation_p.R209C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R209C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R209C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R209C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R209C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R209C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R209C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R209C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R209C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R209C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R209C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	209	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATCTGCCCTTCGCACAATAAA	0.493000													56	75					0	0	0.139131	0	0
ZNF615	284370	broad.mit.edu	37	19	52497701	52497701	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:52497701C>G	ENST00000602063.1	-	6	977	c.628G>C	c.(628-630)Ggg>Cgg	p.G210R	ZNF615_ENST00000376716.5_Missense_Mutation_p.G210R|ZNF615_ENST00000391795.3_Missense_Mutation_p.G215R|ZNF615_ENST00000598071.1_Missense_Mutation_p.G221R|ZNF615_ENST00000594083.1_Missense_Mutation_p.G221R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G221W(1)|p.G210W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGGCTTTCCCACATTCACTG	0.403000													25	209					0	0	0.108266	0	0
POLR2A	5430	broad.mit.edu	37	17	7402793	7402793	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7402793G>A	ENST00000322644.6	+	10	2053	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	POLR2A_ENST00000572844.1_Missense_Mutation_p.D552N	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	552					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACCAAGAGAGACGTCTTCCT	0.572000													18	24					0	0	0.175082	0	0
CLOCK	9575	broad.mit.edu	37	4	56348910	56348910	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:56348910C>G	ENST00000309964.4	-	3	293	c.43G>C	c.(43-45)Gac>Cac	p.D15H	CLOCK_ENST00000513440.1_Missense_Mutation_p.D15H|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Missense_Mutation_p.D15H	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	15					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACATACCTGTCAACAATCGAG	0.279000													3	38					0	0	0.150653	0	0
TRPM7	54822	broad.mit.edu	37	15	50904749	50904749	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:50904749G>C	ENST00000313478.7	-	16	2329	c.2048C>G	c.(2047-2049)tCc>tGc	p.S683C	TRPM7_ENST00000560955.1_Missense_Mutation_p.S683C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	683					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CACTTACTTGGAATACTGTTT	0.348000													12	152					0	0	0.093190	0	0
LAMA4	3910	broad.mit.edu	37	6	112452196	112452196	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:112452196G>A	ENST00000230538.7	-	29	4339	c.3942C>T	c.(3940-3942)ttC>ttT	p.F1314F	LAMA4_ENST00000389463.4_Silent_p.F1307F|LAMA4_ENST00000424408.2_Silent_p.F1307F|LAMA4_ENST00000522006.1_Silent_p.F1307F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1314	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGCTAATGACGAAGTGGGACA	0.413000													10	64					0	0	0.058154	0	0
CDH5	1003	broad.mit.edu	37	16	66424329	66424329	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:66424329G>A	ENST00000341529.3	+	6	953	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CDH5_ENST00000563425.2_Missense_Mutation_p.E269K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	269	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TGTCGTGCCTGAAGACACCCG	0.522000													4	36					0	0	0.184627	0	0
PRKDC	5591	broad.mit.edu	37	8	48689514	48689514	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:48689514C>G	ENST00000314191.2	-	86	12126	c.12070G>C	c.(12070-12072)Ggg>Cgg	p.G4024R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G3993R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4025					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCCATGACCCTCCTTTTTTC	0.363000								Non-homologous end-joining					5	98					0	0	0.184627	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888590	37888590	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:37888590C>T	ENST00000377716.2	-	3	702		c.e3-1		SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_5'UTR|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Splice_Site			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51						transport	integral to membrane|mitochondrial inner membrane											TTTTTTTAACCTACAAATAAT	0.373000													28	102					0	0	0.099896	0	0
FAM193A	8603	broad.mit.edu	37	4	2659571	2659571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:2659571G>A	ENST00000324666.5	+	6	831	c.480G>A	c.(478-480)tgG>tgA	p.W160*	FAM193A_ENST00000545951.1_Nonsense_Mutation_p.W160*|FAM193A_ENST00000505311.1_Nonsense_Mutation_p.W160*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.W160*|FAM193A_ENST00000502458.1_Nonsense_Mutation_p.W184*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	160										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAAGACTGGGAGCTTTTTA	0.348000													13	148					0	0	0.146539	0	0
HAL	3034	broad.mit.edu	37	12	96371825	96371825	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:96371825C>A	ENST00000261208.3	-	18	1919	c.1551G>T	c.(1549-1551)tcG>tcT	p.S517S	HAL_ENST00000541929.1_Silent_p.S309S|HAL_ENST00000538703.1_Silent_p.S517S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	517					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AGTCAACAGACGAGGGATGGC	0.577000													11	41					4.68919e-08	5.32723e-08	0.069234	1	0
ORC3	23595	broad.mit.edu	37	6	88321808	88321808	+	Splice_Site	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:88321808C>G	ENST00000392844.3	+	8	763	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	ORC3_ENST00000257789.4_Splice_Site_p.Q239E|ORC3_ENST00000546266.1_Splice_Site_p.Q96E|ORC3_ENST00000417380.2_Splice_Site_p.Q186E	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	239					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAAAACTAGTCAACATCTCCA	0.308000													9	92					0	0	0.069234	0	0
RAB38	23682	broad.mit.edu	37	11	87847303	87847303	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:87847303A>G	ENST00000243662.6	-	3	571	c.489T>C	c.(487-489)aaT>aaC	p.N163N	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	163					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATGTTTATATTTTCCTATG	0.373000													6	139					0	0	0.248553	0	0
CAPN15	6650	broad.mit.edu	37	16	597766	597766	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:597766G>A	ENST00000219611.2	+	4	1291	c.928G>A	c.(928-930)Gta>Ata	p.V310I	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CACCAGCCGCGTAGAGGCCGG	0.692000													5	23					0	0	0.217242	0	0
VPS11	55823	broad.mit.edu	37	11	118947623	118947623	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:118947623G>C	ENST00000300793.6	+	9	1294	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	419					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGGAAAGTTGGAGCCATCCTA	0.522000													4	33					0	0	0.184627	0	0
PCDH7	5099	broad.mit.edu	37	4	30725522	30725522	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:30725522G>T	ENST00000361762.2	+	1	3486	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	PCDH7_ENST00000543491.1_Missense_Mutation_p.Q826H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	826	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACAGTGGGCAGCCTTCCCAGT	0.478000													11	25					3.86212e-05	4.1443e-05	0.069234	1	0
NLRP8	126205	broad.mit.edu	37	19	56466177	56466177	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:56466177G>A	ENST00000291971.3	+	3	824	c.753G>A	c.(751-753)acG>acA	p.T251T	NLRP8_ENST00000590542.1_Silent_p.T251T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGAACCAGACGACAGACCAGA	0.512000													18	192					0	0	0.160694	0	0
FZD6	8323	broad.mit.edu	37	8	104337490	104337490	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:104337490C>T	ENST00000358755.4	+	4	1473	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	FZD6_ENST00000522566.1_Missense_Mutation_p.L386F|FZD6_ENST00000523739.1_Missense_Mutation_p.L354F|FZD6_ENST00000540287.1_Missense_Mutation_p.L81F	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	386					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCTCTCTCTTCTTTTAGCTGG	0.403000													88	488					0	0	0.139131	0	0
MYT1L	23040	broad.mit.edu	37	2	1926560	1926560	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:1926560C>A	ENST00000399161.2	-	10	1728	c.981G>T	c.(979-981)ctG>ctT	p.L327L	MYT1L_ENST00000428368.2_Silent_p.L327L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	327					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCAAACACTCCAGACTGCTCA	0.517000													11	110					4.68919e-08	5.32723e-08	0.069234	1	0
KIF27	55582	broad.mit.edu	37	9	86518733	86518733	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:86518733G>A	ENST00000297814.2	-	4	843	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	KIF27_ENST00000413982.1_Missense_Mutation_p.R234W|KIF27_ENST00000334204.2_Missense_Mutation_p.R234W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	234	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACAATATGCCGAGGGGAATAC	0.408000													10	152					0	0	0.058154	0	0
APLP2	334	broad.mit.edu	37	11	129999940	129999940	+	Missense_Mutation	SNP	G	G	A	rs144823565	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:129999940G>A	ENST00000263574.5	+	11	1535	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	APLP2_ENST00000539648.1_Missense_Mutation_p.R276H|APLP2_ENST00000338167.5_Missense_Mutation_p.R488H|APLP2_ENST00000528499.1_Missense_Mutation_p.R432H|APLP2_ENST00000278756.7_Missense_Mutation_p.R498H|APLP2_ENST00000345598.5_Missense_Mutation_p.R259H|APLP2_ENST00000543137.1_Missense_Mutation_p.R395H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	488					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CAGCCTCATCGCATTCTCCAG	0.418000													18	183					0	0	0.175082	0	0
LRP1B	53353	broad.mit.edu	37	2	141130707	141130707	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:141130707C>T	ENST00000389484.3	-	69	11610		c.e69-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAATTTCTCTATGAAAAAC	0.343000										TSP Lung(27;0.18)			31	75					0	0	0.125774	0	0
TMC8	147138	broad.mit.edu	37	17	76129569	76129569	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:76129569A>T	ENST00000318430.5	+	6	988	c.614A>T	c.(613-615)tAc>tTc	p.Y205F	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	205						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGCCTGGCCTACCTCCTCAGC	0.642000													14	119					0	0	0.105934	0	0
SIRT1	23411	broad.mit.edu	37	10	69648780	69648780	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:69648780G>A	ENST00000212015.6	+	3	741	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	230	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TATCCTTTCAGAACCACCAAA	0.343000													22	82					0	0	0.219247	0	0
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													3	28					0	0	0.150653	0	0
IDH3G	3421	broad.mit.edu	37	X	153052950	153052950	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:153052950T>A	ENST00000370092.3	-	8	828	c.643A>T	c.(643-645)Aaa>Taa	p.K215*	IDH3G_ENST00000370093.1_Nonsense_Mutation_p.K215*|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Nonsense_Mutation_p.K215*|IDH3G_ENST00000427365.2_Nonsense_Mutation_p.K157*	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	215					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCCGTCACTTTCTTGCGCCCG	0.607000													13	50					0	0	0.132662	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020682	33020682	+	RNA	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:33020682G>T	ENST00000565407.2	+	0	90				RP11-19N8.2_ENST00000567619.1_RNA																							GGGGAGGCTTGGTACAGCCTG	0.572000													25	225					1.16021e-09	1.33173e-09	0.125774	1	0
VWA3B	200403	broad.mit.edu	37	2	98750353	98750353	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:98750353C>A	ENST00000477737.1	+	7	1143	c.939C>A	c.(937-939)gaC>gaA	p.D313E	VWA3B_ENST00000451075.2_Missense_Mutation_p.D163E|VWA3B_ENST00000435344.1_Missense_Mutation_p.D313E	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	313										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGGATGGTGACAATGTGATGA	0.453000													45	225					3.4345e-17	4.08454e-17	0.301197	1	0
PCDHB15	56121	broad.mit.edu	37	5	140625714	140625714	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140625714A>G	ENST00000231173.3	+	1	568	c.568A>G	c.(568-570)Aaa>Gaa	p.K190E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		190	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGGCAGGAAATACCCAGA	0.542000													5	59					0	0	0.184627	0	0
DHODH	1723	broad.mit.edu	37	16	72058043	72058043	+	Splice_Site	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:72058043G>C	ENST00000572887.1	+	9	1304		c.e9-1		DHODH_ENST00000219240.4_Splice_Site			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)						'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	TCTTTTTCCAGAGAGCAGGGC	0.547000													9	52					0	0	0.058154	0	0
TOPORS	10210	broad.mit.edu	37	9	32543099	32543099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:32543099G>T	ENST00000360538.2	-	3	1540	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.S410*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	475	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACAATTATCTGAAGAATCATC	0.423000													7	175					0.0381472	0.0386225	0.278610	1	0
ELOVL2	54898	broad.mit.edu	37	6	10990675	10990675	+	Splice_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:10990675C>A	ENST00000354666.3	-	6	589	c.506G>T	c.(505-507)aGt>aTt	p.S169I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	169					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCCAAAGAAACCTATAAAAGT	0.363000													14	58					2.31682e-05	2.4993e-05	0.132662	1	0
ESYT1	23344	broad.mit.edu	37	12	56536901	56536901	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:56536901A>G	ENST00000394048.5	+	28	3352	c.3088A>G	c.(3088-3090)Aag>Gag	p.K1030E	ESYT1_ENST00000267113.4_Missense_Mutation_p.K1040E|ESYT1_ENST00000541590.1_Missense_Mutation_p.K1040E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1030	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCACAGAAGAAGAGGACCCT	0.532000													19	115					0	0	0.175082	0	0
FRY	10129	broad.mit.edu	37	13	32759286	32759286	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:32759286G>A	ENST00000380250.3	+	26	3815		c.e26+1			NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGTGTTCCAGGTACGGTGATC	0.418000													12	75					0	0	0.093190	0	0
PTX3	5806	broad.mit.edu	37	3	157160446	157160446	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:157160446A>G	ENST00000295927.3	+	3	969	c.824A>G	c.(823-825)aAt>aGt	p.N275S	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	275	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGCACCTGGAATTCAGAGGAA	0.537000													12	108					0	0	0.080935	0	0
GRTP1	79774	broad.mit.edu	37	13	114009779	114009779	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:114009779T>C	ENST00000375430.4	-	3	245	c.199A>G	c.(199-201)Aaa>Gaa	p.K67E	GRTP1-AS1_ENST00000423246.1_RNA|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000375431.4_Missense_Mutation_p.K67E			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	67						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGGACCCCTTTCCGGACATAG	0.657000													6	33					0	0	0.248553	0	0
ZNF594	84622	broad.mit.edu	37	17	5085430	5085430	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:5085430A>T	ENST00000399604.4	-	1	2262	c.2122T>A	c.(2122-2124)Tat>Aat	p.Y708N	ZNF594_ENST00000575779.1_Missense_Mutation_p.Y708N			Q96JF6	ZN594_HUMAN	zinc finger protein 594	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTACATTCATAGGGTTTCTCA	0.463000													15	148					0	0	0.132662	0	0
EHF	26298	broad.mit.edu	37	11	34680445	34680445	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:34680445G>C	ENST00000257831.3	+	9	991	c.870G>C	c.(868-870)aaG>aaC	p.K290N	EHF_ENST00000450654.2_Missense_Mutation_p.K267N|EHF_ENST00000530286.1_Missense_Mutation_p.K290N|EHF_ENST00000531794.1_Missense_Mutation_p.K312N|EHF_ENST00000533754.1_Missense_Mutation_p.K290N	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	290					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AATTTGGGAAGAATGCCCGAG	0.398000													20	58					0	0	0.234183	0	0
SREBF2	6721	broad.mit.edu	37	22	42262940	42262940	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:42262940G>A	ENST00000361204.4	+	2	360	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	65	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						agcagcagcggcagcagtggc	0.557000													57	90					0	0	0.139131	0	0
TMF1	7110	broad.mit.edu	37	3	69082820	69082820	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:69082820C>T	ENST00000543976.1	-	10	2535	c.2289G>A	c.(2287-2289)ctG>ctA	p.L763L	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Silent_p.L760L|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	760					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CACTTTGACTCAGTTCCTGGT	0.393000													5	90					0	0	0.184627	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596446	24596446	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:24596446C>T	ENST00000535378.1	-	4	1071	c.429G>A	c.(427-429)gaG>gaA	p.E143E	KIAA0319_ENST00000378214.3_Silent_p.E152E|KIAA0319_ENST00000430948.2_Silent_p.E107E|KIAA0319_ENST00000537886.1_Silent_p.E152E|KIAA0319_ENST00000543707.1_Silent_p.E152E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	152					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.E152D(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTCAGACATCTCCTCTAGGC	0.577000													6	79					0	0	0.047766	0	0
ACTL8	81569	broad.mit.edu	37	1	18152477	18152477	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:18152477C>T	ENST00000375406.1	+	3	780	c.564C>T	c.(562-564)ctC>ctT	p.L188L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	188						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TCAAGAGTCTCTTTAAGGAAG	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	52					0	0	0.248553	0	0
SPTBN1	6711	broad.mit.edu	37	2	54872396	54872396	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:54872396A>G	ENST00000333896.5	+	20	4646	c.4261A>G	c.(4261-4263)Aag>Gag	p.K1421E	SPTBN1_ENST00000356805.4_Missense_Mutation_p.K1434E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1434					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTGCGGAAGAAGGAGATCGA	0.557000													12	149					0	0	0.080935	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222733	152222733	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:152222733T>C	ENST00000243347.3	+	3	469		c.e3+2			NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ACCCACACGGTGTGTTAAAAA	0.358000													7	78					0	0	0.248553	0	0
ZNF675	171392	broad.mit.edu	37	19	23837023	23837023	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:23837023T>G	ENST00000359788.4	-	4	880	c.712A>C	c.(712-714)Aac>Cac	p.N238H	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	238					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAGAATTGGTTAAAAGTTCTG	0.328000													4	95					0	0	0.150653	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113173334	113173334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:113173334C>T	ENST00000261965.3	-	16	2091	c.1905G>A	c.(1903-1905)tgG>tgA	p.W635*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.W635*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	635					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGAAGACATCCCATCCAGTGT	0.368000													36	65					0	0	0.225048	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450778	110450778	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:110450778A>G	ENST00000260283.4	-	16	3176	c.2892T>C	c.(2890-2892)tcT>tcC	p.S964S	ARHGAP20_ENST00000524756.1_Silent_p.S941S|ARHGAP20_ENST00000533353.1_Silent_p.S938S|ARHGAP20_ENST00000528829.1_Silent_p.S928S|ARHGAP20_ENST00000357139.3_Silent_p.S938S|ARHGAP20_ENST00000527598.1_Silent_p.S928S|ARHGAP20_ENST00000529591.1_Silent_p.S507S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	964	Ser-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTGTAAACACAGAGTGTTCAG	0.488000													11	90					0	0	0.069234	0	0
RET	5979	broad.mit.edu	37	10	43622158	43622158	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:43622158A>G	ENST00000355710.3	+	19	3407	c.3175A>G	c.(3175-3177)Aac>Gac	p.N1059D	RET_ENST00000340058.5_Missense_Mutation_p.N1059D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1059			Missing (in HSCR1).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGGATTGAAAACAAACTCTA	0.478000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	79					0	0	0.069234	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596732	136596732	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:136596732G>T	ENST00000531224.1	-	6	2042	c.1790C>A	c.(1789-1791)gCc>gAc	p.A597D	BCLAF1_ENST00000530767.1_Missense_Mutation_p.A424D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A595D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A595D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A595D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A597D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	597					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCTTTTGCTGGCCTGTGGCAA	0.393000													12	245					0.000151284	0.000161062	0.105934	1	0
ATP4A	495	broad.mit.edu	37	19	36051751	36051751	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:36051751G>A	ENST00000262623.3	-	5	532	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	168					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCTGGCGATGATGTTGGTGC	0.562000													16	164					0	0	0.175082	0	0
ITGA9	3680	broad.mit.edu	37	3	37860434	37860434	+	Missense_Mutation	SNP	G	G	A	rs138511540		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:37860434G>A	ENST00000264741.5	+	28	3318	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q	AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000608505.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000457661.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	1021					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GAGAAGAACCGGAAAGAGAAT	0.463000													6	62					0	0	0.248553	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206340	55206340	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:55206340C>T	ENST00000201031.2	+	2	371	c.128C>T	c.(127-129)gCg>gTg	p.A43V	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	43	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TACAGCCCCGCGCCACCCCTC	0.647000													7	105					0	0	0.248553	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600245	31600245	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:31600245G>C	ENST00000376033.2	+	16	4029	c.3795G>C	c.(3793-3795)gaG>gaC	p.E1265D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1265D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1265	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGAACGGGAGAATGCCGCAA	0.642000													12	87					0	0	0.105934	0	0
IL1B	3553	broad.mit.edu	37	2	113591113	113591113	+	Missense_Mutation	SNP	C	C	T	rs140821206		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:113591113C>T	ENST00000263341.2	-	4	349	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AGCTGGATGCCGCCATCCAGA	0.612000													8	122					0	0	0.069234	0	0
ZNF554	115196	broad.mit.edu	37	19	2834686	2834686	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:2834686A>C	ENST00000317243.5	+	5	1651	c.1453A>C	c.(1453-1455)Act>Cct	p.T485P		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGAGAGAACTCACACTGG	0.537000													9	100					0	0	0.047766	0	0
CNTN4	152330	broad.mit.edu	37	3	2924920	2924920	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:2924920T>C	ENST00000397461.1	+	8	1128	c.744T>C	c.(742-744)ttT>ttC	p.F248F	CNTN4_ENST00000418658.1_Silent_p.F248F|CNTN4_ENST00000427331.1_Silent_p.F248F|CNTN4_ENST00000358480.3_Silent_p.F29F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	248	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGAATGCTTTGCTTTAGGAA	0.453000													5	36					0	0	0.184627	0	0
SETDB1	9869	broad.mit.edu	37	1	150933286	150933286	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:150933286C>T	ENST00000271640.5	+	16	2938	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.F916F	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	916	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGAGGACTTCAGCACCAGTT	0.537000													8	102					0	0	0.278610	0	0
NUP188	23511	broad.mit.edu	37	9	131747191	131747191	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:131747191G>A	ENST00000372577.2	+	20	1995	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	658					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CGGAAGGGATGAATGCTGGAG	0.433000											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	67					0	0	0.204396	0	0
SNX16	64089	broad.mit.edu	37	8	82751845	82751845	+	Splice_Site	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:82751845A>T	ENST00000396330.2	-	3	882		c.e3+1		SNX16_ENST00000345957.4_Splice_Site|SNX16_ENST00000353788.4_Splice_Site	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16						cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GTCAATACTTACAGTAAATTT	0.338000													15	182					0	0	0.132662	0	0
OR4C15	81309	broad.mit.edu	37	11	55322510	55322510	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:55322510C>A	ENST00000314644.2	+	1	728	c.728C>A	c.(727-729)aCt>aAt	p.T243N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGCCTGCACTGATACTCAC	0.433000										HNSCC(20;0.049)			12	76					6.40141e-05	6.83902e-05	0.080935	1	0
ST18	9705	broad.mit.edu	37	8	53071571	53071571	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:53071571G>T	ENST00000276480.7	-	15	2376	c.1693C>A	c.(1693-1695)Caa>Aaa	p.Q565K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	565						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACTACATTGACCGTAGCTA	0.542000													19	129					1.15919e-05	1.26504e-05	0.204396	1	0
SOGA3	387104	broad.mit.edu	37	6	127837622	127837622	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:127837622C>T	ENST00000556132.1	-	2	1002	c.138G>A	c.(136-138)agG>agA	p.R46R	SOGA3_ENST00000525778.1_Silent_p.R46R|SOGA3_ENST00000465909.2_Silent_p.R46R|SOGA3_ENST00000368268.2_Silent_p.R46R|SOGA3_ENST00000481848.2_Silent_p.R46R	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	46						integral to membrane											GCGAACTGTCCCTCGGTCTAG	0.652000													5	61					0	0	0.184627	0	0
TRAM1	23471	broad.mit.edu	37	8	71520342	71520342	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:71520342C>A	ENST00000262213.2	-	1	262	c.93G>T	c.(91-93)gcG>gcT	p.A31A	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	31					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGAAGACCATCGCCACACAGG	0.657000													12	67					1.08611e-07	1.22589e-07	0.080935	1	0
GRM3	2913	broad.mit.edu	37	7	86416185	86416185	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:86416185T>A	ENST00000361669.2	+	3	2176	c.1077T>A	c.(1075-1077)ttT>ttA	p.F359L	GRM3_ENST00000536043.1_Missense_Mutation_p.F231L|GRM3_ENST00000394720.2_Missense_Mutation_p.F357L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.F359L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	359					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCAAAAGTTTCAGTGCAGCC	0.577000													7	75					0	0	0.248553	0	0
CLIC3	9022	broad.mit.edu	37	9	139889207	139889207	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:139889207T>C	ENST00000494426.1	-	6	896	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	213	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGAACTCTTTCTCCTGCATC	0.711000													3	14					0	0	0.115264	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670889	90670889	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:90670889C>A	ENST00000265138.3	-	5	986	c.720G>T	c.(718-720)atG>atT	p.M240I		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	240					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTACTTCCTTCATTTTCCCTT	0.448000													13	95					9.31168e-06	1.02077e-05	0.105934	1	0
NUDC	10726	broad.mit.edu	37	1	27269397	27269397	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:27269397A>G	ENST00000321265.5	+	6	705	c.582A>G	c.(580-582)aaA>aaG	p.K194K		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	194	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		TCCGGCTGAAAGGGAAGGACA	0.612000													4	58					0	0	0.184627	0	0
XIRP2	129446	broad.mit.edu	37	2	168099691	168099691	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:168099691G>A	ENST00000409195.1	+	9	1878	c.1789G>A	c.(1789-1791)Ggt>Agt	p.G597S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G375S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G597S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	422					actin cytoskeleton organization	cell junction	actin binding	p.G597C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCTGATGAAGGTGATATTTC	0.438000													30	75					0	0	0.183431	0	0
SAMD9	54809	broad.mit.edu	37	7	92731016	92731016	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:92731016C>T	ENST00000379958.2	-	3	4664	c.4395G>A	c.(4393-4395)aaG>aaA	p.K1465K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1465						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATATTGCCCCTTGAAAGAAT	0.338000													29	152					0	0	0.116897	0	0
AGTR1	185	broad.mit.edu	37	3	148459803	148459803	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:148459803C>G	ENST00000542281.1	+	4	1427	c.981C>G	c.(979-981)caC>caG	p.H327Q	AGTR1_ENST00000474935.1_Missense_Mutation_p.H327Q|AGTR1_ENST00000404754.2_Missense_Mutation_p.H327Q|AGTR1_ENST00000418473.2_Missense_Mutation_p.H327Q|AGTR1_ENST00000475347.1_Missense_Mutation_p.H327Q|AGTR1_ENST00000349243.3_Missense_Mutation_p.H327Q|AGTR1_ENST00000461609.1_Missense_Mutation_p.H327Q|AGTR1_ENST00000402260.1_Missense_Mutation_p.H327Q|AGTR1_ENST00000497524.1_Missense_Mutation_p.H327Q	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	327					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCAAATCCCACTCAAACCTTT	0.403000													8	122					0	0	0.278610	0	0
NICN1	84276	broad.mit.edu	37	3	49466574	49466574	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:49466574G>C	ENST00000273598.3	-	1	185	c.99C>G	c.(97-99)atC>atG	p.I33M	NICN1_ENST00000436744.2_Missense_Mutation_p.I33M|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	33						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGTGACATCGATGACCAGCA	0.677000													9	56					0	0	0.058154	0	0
SDC1	6382	broad.mit.edu	37	2	20403894	20403894	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:20403894C>T	ENST00000381150.1	-	4	697	c.307G>A	c.(307-309)Gag>Aag	p.E103K	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000254351.4_Missense_Mutation_p.E103K|SDC1_ENST00000403076.1_Missense_Mutation_p.E103K	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	103					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		ACTACAGCCTCTCCCTCCTTG	0.682000													7	134					0	0	0.248553	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402876	50402876	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:50402876C>G	ENST00000435965.1	-	36	3203	c.3030G>C	c.(3028-3030)gaG>gaC	p.E1010D	XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E1003D|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E1003D|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E934D|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E1004D|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E1003D|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E1011D|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E1010D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1010					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGCAGCTGCTCTCGCGCGTCT	0.662000													3	40					0	0	0.115264	0	0
CD96	10225	broad.mit.edu	37	3	111356988	111356988	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:111356988A>G	ENST00000352690.4	+	12	1690	c.1450A>G	c.(1450-1452)Acg>Gcg	p.T484A	CD96_ENST00000283285.5_Missense_Mutation_p.T500A	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	500	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.T500A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CAATGGATCTACGAAAACTAA	0.388000									Opitz Trigonocephaly syndrome				48	166					0	0	0.139131	0	0
GPR65	8477	broad.mit.edu	37	14	88477848	88477848	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:88477848G>T	ENST00000267549.3	+	2	1215	c.657G>T	c.(655-657)aaG>aaT	p.K219N	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	219					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CGGAAAACAAGGAAAAGAAGA	0.428000													9	60					1.12685e-05	1.23085e-05	0.047766	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128994340	128994340	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:128994340C>A	ENST00000274487.4	+	15	2462	c.2317C>A	c.(2317-2319)Ctt>Att	p.L773I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	773	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTAGGGTCTCTTGCAAGAGA	0.373000													25	171					7.92952e-12	9.23218e-12	0.294199	1	0
SLC10A3	8273	broad.mit.edu	37	X	153715959	153715959	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:153715959G>C	ENST00000263512.4	-	2	1819	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	SLC10A3_ENST00000393586.1_Missense_Mutation_p.Q496E|SLC10A3_ENST00000393587.4_Missense_Mutation_p.Q441E|SLC10A3_ENST00000369649.4_Missense_Mutation_p.Q412E	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	441					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGTCAGCTTGAAGGCGGCGG	0.627000													8	30					0	0	0.047766	0	0
FN1	2335	broad.mit.edu	37	2	216259388	216259388	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:216259388G>C	ENST00000354785.4	-	24	4028	c.3659C>G	c.(3658-3660)tCt>tGt	p.S1220C	FN1_ENST00000421182.1_Missense_Mutation_p.S1220C|FN1_ENST00000359671.1_Missense_Mutation_p.S1220C|FN1_ENST00000345488.5_Missense_Mutation_p.S1220C|FN1_ENST00000357009.2_Missense_Mutation_p.S1220C|FN1_ENST00000446046.1_Missense_Mutation_p.S1220C|FN1_ENST00000443816.1_Missense_Mutation_p.S1220C|FN1_ENST00000356005.4_Missense_Mutation_p.S1220C|FN1_ENST00000323926.6_Missense_Mutation_p.S1220C|FN1_ENST00000432072.2_Missense_Mutation_p.S1220C|FN1_ENST00000346544.3_Missense_Mutation_p.S1220C|FN1_ENST00000357867.4_Missense_Mutation_p.S1220C|FN1_ENST00000336916.4_Missense_Mutation_p.S1220C			P02751	FINC_HUMAN	fibronectin 1	1220	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTCCAAAGAATTTCCCTG	0.453000													23	144					0	0	0.249174	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921567	159921567	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:159921567T>C	ENST00000368093.3	-	4	870	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.M161V	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	252						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGAGTCCCATGGCCAGAATT	0.483000													27	84					0	0	0.294199	0	0
GSTK1	373156	broad.mit.edu	37	7	142962178	142962178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:142962178G>A	ENST00000479303.1	+	4	435	c.377G>A	c.(376-378)tGg>tAg	p.W126*	GSTK1_ENST00000443571.2_Nonsense_Mutation_p.W83*|GSTK1_ENST00000358406.5_Nonsense_Mutation_p.W126*|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Nonsense_Mutation_p.W126*	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	126						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	ATGCGCGTCTGGTCAAGGGTG	0.592000													4	45					0	0	0.150653	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476237	161476237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:161476237C>T	ENST00000271450.6	+	3	258	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	FCGR2A_ENST00000367972.4_Nonsense_Mutation_p.Q73*	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	74	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGACTCCATTCAGTGGTTCCA	0.587000													4	67					0	0	0.150653	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227396	56227396	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:56227396C>A	ENST00000341744.3	-	4	896	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PMEPA1_ENST00000395814.1_Missense_Mutation_p.D143Y|PMEPA1_ENST00000265626.4_Missense_Mutation_p.D143Y|PMEPA1_ENST00000395816.3_Missense_Mutation_p.D143Y|PMEPA1_ENST00000347215.4_Missense_Mutation_p.D158Y	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	193					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGGTCACTGTCGAAGATGGTT	0.677000													8	77					7.48243e-07	8.37565e-07	0.058154	1	0
DNAJC6	9829	broad.mit.edu	37	1	65830332	65830332	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:65830332G>T	ENST00000395325.3	+	2	194	c.37G>T	c.(37-39)Gac>Tac	p.D13Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D70Y|DNAJC6_ENST00000263441.7_5'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	13					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTCATCTCCAGACATGGAGCC	0.433000													9	73					0.0477658	0.0482806	0.047766	1	0
DDX54	79039	broad.mit.edu	37	12	113617118	113617118	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:113617118C>G	ENST00000314045.7	-	4	421	c.394G>C	c.(394-396)Gat>Cat	p.D132H	DDX54_ENST00000306014.5_Missense_Mutation_p.D132H	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	132	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTTGCCATCCAAGATCACC	0.607000													4	33					0	0	0.150653	0	0
CRISP3	10321	broad.mit.edu	37	6	49696465	49696465	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:49696465T>C	ENST00000433368.2	-	8	854	c.785A>G	c.(784-786)aAt>aGt	p.N262S	CRISP3_ENST00000393666.1_Missense_Mutation_p.N239S|CRISP3_ENST00000263045.4_Missense_Mutation_p.N252S|CRISP3_ENST00000423399.2_Missense_Mutation_p.N149S|CRISP3_ENST00000371159.4_Missense_Mutation_p.N270S	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	239					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GTTTGAACAATTGCAGGAGGC	0.388000													18	117					0	0	0.189662	0	0
SULF1	23213	broad.mit.edu	37	8	70513947	70513947	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:70513947C>A	ENST00000260128.4	+	10	1661	c.944C>A	c.(943-945)gCc>gAc	p.A315D	SULF1_ENST00000402687.4_Missense_Mutation_p.A315D|SULF1_ENST00000419716.3_Missense_Mutation_p.A315D|SULF1_ENST00000458141.2_Missense_Mutation_p.A315D|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	315					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTTACACCGCCGACCATGGT	0.448000													29	192					9.39395e-14	1.10533e-13	0.116897	1	0
DPAGT1	1798	broad.mit.edu	37	11	118967723	118967723	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:118967723G>C	ENST00000409993.2	-	11	2763	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	DPAGT1_ENST00000354202.4_Silent_p.L404L|DPAGT1_ENST00000432443.2_Silent_p.L323L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	404					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CATCATAGAAGAGTCGAACGA	0.507000													3	56					0	0	0.150653	0	0
KNSTRN	90417	broad.mit.edu	37	15	40678672	40678672	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:40678672C>T	ENST00000416151.2	+	3	529	c.414C>T	c.(412-414)atC>atT	p.I138I	KNSTRN_ENST00000448395.2_Silent_p.I138I|KNSTRN_ENST00000608100.1_Silent_p.I60I|KNSTRN_ENST00000249776.8_Silent_p.I138I	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TTACAAAAATCACCAAACTGA	0.403000													11	42					0	0	0.080935	0	0
IFI27L2	83982	broad.mit.edu	37	14	94595894	94595894	+	Splice_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:94595894C>A	ENST00000238609.3	-	1	107		c.e1+1		IFI27L2_ENST00000556727.1_Intron	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2							integral to membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						GCAAGACTCACTCATCATGGT	0.622000													9	52					0.0167234	0.0170023	0.105934	1	0
NCEH1	57552	broad.mit.edu	37	3	172351372	172351372	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:172351372C>G	ENST00000475381.1	-	5	1353	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	NCEH1_ENST00000273512.3_Missense_Mutation_p.E406Q|NCEH1_ENST00000538775.1_Missense_Mutation_p.E414Q|NCEH1_ENST00000543711.1_Missense_Mutation_p.E241Q			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	374					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGCCATCCTCAAAGTGATCC	0.488000													11	116					0	0	0.080935	0	0
SETX	23064	broad.mit.edu	37	9	135204826	135204826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:135204826G>T	ENST00000372169.2	-	10	2341	c.2159C>A	c.(2158-2160)tCa>tAa	p.S720*	SETX_ENST00000393220.1_Nonsense_Mutation_p.S720*|SETX_ENST00000224140.5_Nonsense_Mutation_p.S720*			Q7Z333	SETX_HUMAN	senataxin	720					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGGTGTATATGAAGAGATCTC	0.353000													11	214					3.86212e-05	4.1443e-05	0.069234	1	0
UBR5	51366	broad.mit.edu	37	8	103311099	103311099	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:103311099A>G	ENST00000520539.1	-	25	3909	c.3303T>C	c.(3301-3303)taT>taC	p.Y1101Y	UBR5_ENST00000220959.4_Silent_p.Y1101Y|UBR5_ENST00000521922.1_Silent_p.Y1095Y	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1101					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTTCTCGTAGATAGGGCTGGA	0.363000													40	63					0	0	0.246493	0	0
ALAS1	211	broad.mit.edu	37	3	52238004	52238004	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:52238004C>T	ENST00000394965.2	+	5	913	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	ALAS1_ENST00000484952.1_Missense_Mutation_p.L185F|ALAS1_ENST00000310271.2_Missense_Mutation_p.L185F|ALAS1_ENST00000469224.1_Missense_Mutation_p.L185F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	185					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGTGTCTCATCTTCTTCAAGA	0.363000													10	115					0	0	0.069234	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513315	76513315	+	Splice_Site	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:76513315G>T	ENST00000307431.8	+	13	2144		c.e13-1		CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000476707.1_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTTCTTAAAGCTATCTATGA	0.328000													26	110					3.28513e-13	3.85797e-13	0.294199	1	0
LRP12	29967	broad.mit.edu	37	8	105503119	105503119	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:105503119C>A	ENST00000276654.5	-	7	2470	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	LRP12_ENST00000424843.2_Missense_Mutation_p.V769L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	788					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGTCATTCACATCAAAGTCT	0.408000													16	137					2.62699e-14	3.10601e-14	0.132662	1	0
ZDHHC15	158866	broad.mit.edu	37	X	74641729	74641729	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:74641729T>A	ENST00000541184.1	-	8	1283	c.806A>T	c.(805-807)aAg>aTg	p.K269M	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.K278M	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	278						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCAGAACTTCTTCTTATCTCC	0.418000													7	28					0	0	0.278610	0	0
ANKS6	203286	broad.mit.edu	37	9	101507944	101507944	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:101507944G>A	ENST00000353234.4	-	14	2455	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	ANKS6_ENST00000375019.2_Missense_Mutation_p.A502V|ANKS6_ENST00000540940.1_Missense_Mutation_p.A608V|ANKS6_ENST00000375018.1_Missense_Mutation_p.A804V			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	803	SAM.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGTGAGGAACGCTTCCATGTC	0.517000													7	65					0	0	0.047766	0	0
L1TD1	54596	broad.mit.edu	37	1	62672712	62672712	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:62672712G>A	ENST00000498273.1	+	3	707	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	138								p.E138Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ctttaaattagaagtaaatga	0.313000													10	56					0	0	0.058154	0	0
NRXN1	9378	broad.mit.edu	37	2	50280646	50280646	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:50280646G>A	ENST00000404971.1	-	22	5350	c.4011C>T	c.(4009-4011)ctC>ctT	p.L1337L	NRXN1_ENST00000401710.1_Silent_p.L285L|NRXN1_ENST00000402717.3_Silent_p.L1289L|NRXN1_ENST00000401669.2_Silent_p.L1297L|NRXN1_ENST00000406316.2_Silent_p.L1267L|NRXN1_ENST00000405472.3_Silent_p.L1289L|NRXN1_ENST00000342183.5_Silent_p.L232L|NRXN1_ENST00000406859.3_Silent_p.L1267L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1267					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACAGCCCAGAGAGCTGGCCCT	0.483000													10	119					0	0	0.058154	0	0
FIGN	55137	broad.mit.edu	37	2	164468309	164468309	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:164468309C>T	ENST00000333129.3	-	3	347	c.33G>A	c.(31-33)aaG>aaA	p.K11K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	11						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCCACTGCATCTTCAAGCCTA	0.443000													9	44					0	0	0.047766	0	0
NELFA	7469	broad.mit.edu	37	4	1993343	1993343	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:1993343C>G	ENST00000382882.3	-	2	1460	c.343G>C	c.(343-345)Ggc>Cgc	p.G115R	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000411638.2_Missense_Mutation_p.G104R					negative elongation factor complex member A																		TTAAGCGAGCCTGTGTCCGGA	0.527000													27	113					0	0	0.099896	0	0
DHX15	1665	broad.mit.edu	37	4	24550571	24550571	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:24550571G>A	ENST00000336812.4	-	6	1311	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	385	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACAATGGAATGATTTTAATGT	0.388000													5	59					0	0	0.217242	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129292	3129292	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:3129292G>A	ENST00000380266.3	-	2	746	c.425C>T	c.(424-426)tCa>tTa	p.S142L	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	142					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTCACCTTCTGAAACAGACAG	0.393000													12	83					0	0	0.080935	0	0
MYOC	4653	broad.mit.edu	37	1	171605130	171605130	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:171605130T>C	ENST00000037502.6	-	3	1521	c.1450A>G	c.(1450-1452)Aag>Gag	p.K484E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGAGCTTCTTCTCCAGGGGG	0.478000													6	52					0	0	0.217242	0	0
HELZ	9931	broad.mit.edu	37	17	65186416	65186416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:65186416G>A	ENST00000358691.5	-	10	779	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q205*|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger									p.Q205*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTTCTTCCTGGGAATGTGCT	0.378000													11	90					0	0	0.080935	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38666988	38666988	+	RNA	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:38666988A>T	ENST00000494540.1	+	0	956					NR_003086.1																						TAGGGTCACTATTCAAAAAAC	0.428000													11	28					0	0	0.080935	0	0
CCDC174	51244	broad.mit.edu	37	3	14706567	14706567	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:14706567G>T	ENST00000383794.3	+	6	591	c.518G>T	c.(517-519)cGg>cTg	p.R173L	CCDC174_ENST00000303688.7_Missense_Mutation_p.R173L	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		GGGCGTTCCCGGCGCTGTATG	0.473000													13	221					0.00185496	0.00192935	0.105934	1	0
ITGAL	3683	broad.mit.edu	37	16	30505565	30505565	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:30505565A>G	ENST00000356798.6	+	12	1426	c.1246A>G	c.(1246-1248)Aag>Gag	p.K416E	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.K333E	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	416					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTCCCGGCAAAAGACTTCGTT	0.612000													12	123					0	0	0.093190	0	0
HNRNPL	3191	broad.mit.edu	37	19	39329038	39329038	+	Splice_Site	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:39329038T>G	ENST00000221419.5	-	10	1922	c.1556A>C	c.(1555-1557)gAg>gCg	p.E519A	AC104534.3_ENST00000594769.1_Splice_Site_p.R136R|HNRNPL_ENST00000600873.1_Splice_Site_p.E386A	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	519					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCACACACCTCAAAGAAGTT	0.582000													7	53					0	0	0.058154	0	0
SKIL	6498	broad.mit.edu	37	3	170079211	170079211	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:170079211A>T	ENST00000458537.3	+	1	1801	c.1092A>T	c.(1090-1092)caA>caT	p.Q364H	SKIL_ENST00000259119.4_Missense_Mutation_p.Q364H|SKIL_ENST00000413427.2_Missense_Mutation_p.Q364H|SKIL_ENST00000426052.2_Missense_Mutation_p.Q344H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	364					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAGAAATCAATCCAAGGCAA	0.289000													14	152					0	0	0.132662	0	0
C1orf141	400757	broad.mit.edu	37	1	67559147	67559147	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:67559147T>A	ENST00000371007.2	-	8	853	c.744A>T	c.(742-744)gaA>gaT	p.E248D	C1orf141_ENST00000371006.1_Missense_Mutation_p.E248D|C1orf141_ENST00000544837.1_Missense_Mutation_p.E248D	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	248										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CACAATTTCTTTCTAAAATGA	0.279000													10	71					0	0	0.058154	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755782	49755782	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:49755782A>G	ENST00000535833.1	-	10	4567	c.1117T>C	c.(1117-1119)Ttt>Ctt	p.F373L	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.F373L|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	373					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCGCGGAAAGTGCACGCTC	0.642000													7	70					0	0	0.248553	0	0
LMNB2	84823	broad.mit.edu	37	19	2434501	2434501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:2434501C>A	ENST00000325327.3	-	7	1056	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	LMNB2_ENST00000582871.1_Nonsense_Mutation_p.E312*			Q03252	LMNB2_HUMAN	lamin B2	312	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCGATCTTCAGCGGCACTG	0.672000													11	33					5.16669e-11	5.97551e-11	0.080935	1	0
RUSC2	9853	broad.mit.edu	37	9	35547446	35547446	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:35547446T>C	ENST00000455600.1	+	2	1497	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	310						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCGACTCTTCCTTCTGCAG	0.552000													25	116					0	0	0.279207	0	0
VPS13B	157680	broad.mit.edu	37	8	100123455	100123455	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:100123455G>T	ENST00000395996.1	+	6	821	c.710G>T	c.(709-711)cGt>cTt	p.R237L	VPS13B_ENST00000357162.2_Missense_Mutation_p.R237L|VPS13B_ENST00000358544.2_Missense_Mutation_p.R237L|VPS13B_ENST00000355155.1_Missense_Mutation_p.R237L|VPS13B_ENST00000441350.2_Missense_Mutation_p.R237L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	237					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCAGAACTCGTCTTCATTTT	0.308000													18	174					5.3912e-06	5.92595e-06	0.175082	1	0
OR4M1	441670	broad.mit.edu	37	14	20248845	20248845	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:20248845C>T	ENST00000315957.4	+	1	445	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTATGACCGCTATGCTGC	0.507000													153	377					0	0	0.139131	0	0
OR4A47	403253	broad.mit.edu	37	11	48511051	48511051	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:48511051C>T	ENST00000446524.1	+	1	783	c.707C>T	c.(706-708)tCa>tTa	p.S236L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S236*(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AAAGCCCTCTCAACCTGCAGT	0.433000													5	244					0	0	0.184627	0	0
PABPC1	26986	broad.mit.edu	37	8	101721424	101721424	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:101721424G>C	ENST00000318607.5	-	9	2401	c.1273C>G	c.(1273-1275)Cct>Gct	p.P425A	PABPC1_ENST00000519004.1_Missense_Mutation_p.P380A|PABPC1_ENST00000522387.1_Missense_Mutation_p.P393A|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	425					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATTTGGCTAGGAGGATAGTAT	0.398000													11	279					0	0	0.069234	0	0
CNTN5	53942	broad.mit.edu	37	11	100170094	100170094	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:100170094T>C	ENST00000524871.1	+	20	2876	c.2586T>C	c.(2584-2586)ttT>ttC	p.F862F	CNTN5_ENST00000528682.1_Silent_p.F862F|CNTN5_ENST00000418526.2_Silent_p.F788F|CNTN5_ENST00000279463.3_Silent_p.F862F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.F862F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	862	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGGGCCTTTTAGTCAAATTG	0.343000													9	92					0	0	0.058154	0	0
SI	6476	broad.mit.edu	37	3	164697182	164697182	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:164697182G>C	ENST00000264382.3	-	48	5514	c.5452C>G	c.(5452-5454)Cta>Gta	p.L1818V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1818	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGTTCTTCTAGAGTAACATTG	0.299000										HNSCC(35;0.089)			10	136					0	0	0.069234	0	0
GNG12	55970	broad.mit.edu	37	1	68171140	68171140	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:68171140G>C	ENST00000370982.3	-	4	412	c.213C>G	c.(211-213)atC>atG	p.I71M		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	71					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						TCCACTATAAGATGATGCAAG	0.423000													10	128					0	0	0.069234	0	0
SCARF2	91179	broad.mit.edu	37	22	20780168	20780168	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:20780168G>T	ENST00000405555.3	-	11	2165	c.2095C>A	c.(2095-2097)Cgg>Agg	p.R699R	SCARF2_ENST00000266214.5_Silent_p.R704R	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	699	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTGGGCGTCCGTTTCCTCTTG	0.746000													4	23					0.00909568	0.00928613	0.150653	1	0
COL6A6	131873	broad.mit.edu	37	3	130313126	130313126	+	Splice_Site	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:130313126G>T	ENST00000358511.6	+	17	4503	c.4472G>T	c.(4471-4473)gGa>gTa	p.G1491V	COL6A6_ENST00000453409.2_Splice_Site_p.G1491V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1491	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TAACTTTAGGGAAGCCCAGGG	0.428000													32	50					2.20474e-14	2.60929e-14	0.193644	1	0
AFF2	2334	broad.mit.edu	37	X	147733629	147733629	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:147733629G>A	ENST00000370460.2	+	2	636	c.157G>A	c.(157-159)Gag>Aag	p.E53K	AFF2_ENST00000342251.3_Missense_Mutation_p.E53K|AFF2_ENST00000370457.5_Missense_Mutation_p.E53K|AFF2_ENST00000370458.1_Missense_Mutation_p.E53K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	53					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTTTGGGGAGCCATACAA	0.363000													4	144					0	0	0.150653	0	0
ACSM5	54988	broad.mit.edu	37	16	20432677	20432677	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:20432677G>C	ENST00000331849.4	+	5	868	c.721G>C	c.(721-723)Gag>Cag	p.E241Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	241					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CAAGATGGTCGAGCACTCCCA	0.577000													9	30					0	0	0.058154	0	0
MYO15A	51168	broad.mit.edu	37	17	18022999	18022999	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:18022999C>T	ENST00000205890.5	+	2	1223	c.885C>T	c.(883-885)taC>taT	p.Y295Y		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	295	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGACTATTACGGTGGCCCCT	0.647000													14	88					0	0	0.119110	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352434	38352434	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:38352434G>A	ENST00000322350.5	+	5	891		c.e5+1		EGFLAM_ENST00000354891.3_Splice_Site	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains							cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATTCATCAGGTAAGTCTGTA	0.512000													56	90					0	0	0.139131	0	0
GFRAL	389400	broad.mit.edu	37	6	55223826	55223826	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:55223826A>G	ENST00000340465.2	+	6	928	c.842A>G	c.(841-843)gAt>gGt	p.D281G		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	281						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCTTACATAGATATCCTTGGG	0.418000													15	128					0	0	0.146539	0	0
SHCBP1	79801	broad.mit.edu	37	16	46642213	46642213	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:46642213T>C	ENST00000303383.3	-	5	951	c.685A>G	c.(685-687)Aga>Gga	p.R229G		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	229										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				ACTTACAATCTTAATCGAGGT	0.373000													9	43					0	0	0.047766	0	0
TBC1D5	9779	broad.mit.edu	37	3	17209312	17209312	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:17209312G>C	ENST00000253692.7	-	20	3525	c.1861C>G	c.(1861-1863)Caa>Gaa	p.Q621E	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.Q621E|TBC1D5_ENST00000446818.2_Missense_Mutation_p.Q643E	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	621						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATCACATCTTGAATATTTACT	0.358000													4	48					0	0	0.150653	0	0
NSMAF	8439	broad.mit.edu	37	8	59511909	59511909	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:59511909A>G	ENST00000038176.3	-	19	1679	c.1467T>C	c.(1465-1467)ttT>ttC	p.F489F	NSMAF_ENST00000427130.2_Silent_p.F520F	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	489	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTTCTGGAGAAAGTCCTCGG	0.368000													14	138					0	0	0.105934	0	0
PARP14	54625	broad.mit.edu	37	3	122418338	122418338	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:122418338A>T	ENST00000474629.2	+	6	1203	c.937A>T	c.(937-939)Aag>Tag	p.K313*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGAAAGGAGAAGCCTCTGAT	0.428000													8	105					0	0	0.278610	0	0
NSMAF	8439	broad.mit.edu	37	8	59514698	59514698	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:59514698T>C	ENST00000038176.3	-	14	1258		c.e14-2		NSMAF_ENST00000427130.2_Splice_Site|NSMAF_ENST00000519858.1_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGACAAATCTATAAACATAA	0.353000													7	85					0	0	0.278610	0	0
TYSND1	219743	broad.mit.edu	37	10	71899715	71899715	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:71899715G>A	ENST00000287078.6	-	4	1665	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	TYSND1_ENST00000335494.5_3'UTR|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	556					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GCCAGGGGCCGCTGCAACCGC	0.622000													13	104					0	0	0.105934	0	0
C1orf173	127254	broad.mit.edu	37	1	75038926	75038926	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:75038926T>A	ENST00000326665.5	-	14	2686	c.2468A>T	c.(2467-2469)gAa>gTa	p.E823V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	823	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTAAACTCTTCTGCCAATTC	0.577000													21	134					0	0	0.204396	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049370	184049370	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:184049370C>G	ENST00000342981.4	+	29	4788	c.4374C>G	c.(4372-4374)aaC>aaG	p.N1458K	EIF4G1_ENST00000319274.6_Missense_Mutation_p.N1457K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.N1464K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.N1464K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.N1293K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.N1294K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.N1371K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.N1417K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.N1418K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.N1370K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.N1457K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.N1464K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.N1262K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.N1261K	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1457	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGCAGTAACCAGCGGGTGT	0.572000													18	254					0	0	0.160694	0	0
PSD4	23550	broad.mit.edu	37	2	113940803	113940803	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:113940803C>G	ENST00000441564.3	+	2	939	c.770C>G	c.(769-771)tCa>tGa	p.S257*	PSD4_ENST00000245796.6_Nonsense_Mutation_p.S257*			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTCCTTGCTCAGAGAACAGT	0.602000													4	105					0	0	0.150653	0	0
SLC44A3	126969	broad.mit.edu	37	1	95293179	95293179	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:95293179A>G	ENST00000271227.6	+	4	497	c.395A>G	c.(394-396)cAg>cGg	p.Q132R	SLC44A3_ENST00000530397.1_Intron|SLC44A3_ENST00000446120.2_Missense_Mutation_p.Q96R|SLC44A3_ENST00000532427.1_Intron|SLC44A3_ENST00000529450.1_Intron|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000467909.1_Missense_Mutation_p.Q84R	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	132						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAAGAGGTCCAGTTCTTTGCA	0.517000													9	133					0	0	0.047766	0	0
IMMT	10989	broad.mit.edu	37	2	86386752	86386752	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:86386752C>G	ENST00000410111.3	-	9	1326	c.939G>C	c.(937-939)aaG>aaC	p.K313N	IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Missense_Mutation_p.K266N|IMMT_ENST00000442664.2_Missense_Mutation_p.K312N|IMMT_ENST00000254636.5_Missense_Mutation_p.K214N|IMMT_ENST00000449247.2_Missense_Mutation_p.K302N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	313						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTTTTTCTTTGCATTTT	0.348000													32	77					0	0	0.183431	0	0
KCNT2	343450	broad.mit.edu	37	1	196395069	196395069	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:196395069C>A	ENST00000367433.5	-	11	1135	c.1034G>T	c.(1033-1035)cGa>cTa	p.R345L	KCNT2_ENST00000367431.4_Missense_Mutation_p.R345L|KCNT2_ENST00000609185.1_Missense_Mutation_p.R345L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.9_Missense_Mutation_p.R345L|KCNT2_ENST00000498426.1_5'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	345						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTACCCTTCGAACCTGTAC	0.383000													13	76					0.000151284	0.000161062	0.105934	1	0
KDM3A	55818	broad.mit.edu	37	2	86716492	86716492	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:86716492A>G	ENST00000409556.1	+	23	3730	c.3365A>G	c.(3364-3366)gAt>gGt	p.D1122G	KDM3A_ENST00000312912.5_Missense_Mutation_p.D1122G|KDM3A_ENST00000542128.1_Missense_Mutation_p.D1070G|KDM3A_ENST00000409064.1_Missense_Mutation_p.D1122G			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1122	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTCACTTAGATGTATCTGAT	0.413000													13	105					0	0	0.146539	0	0
C9orf85	138241	broad.mit.edu	37	9	74587633	74587633	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:74587633G>C	ENST00000334731.2	+	4	539	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron	NM_182505.3	NP_872311.2	Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	0										kidney(2)|large_intestine(1)|lung(4)	7						AGAAAAAATAGAACATACTGA	0.274000													6	87					0	0	0.248553	0	0
MAST1	22983	broad.mit.edu	37	19	12975887	12975887	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:12975887C>T	ENST00000251472.4	+	14	1572	c.1533C>T	c.(1531-1533)atC>atT	p.I511I		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	511	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGGGTCACATCAAGCTCACAG	0.582000													24	71					0	0	0.264190	0	0
CRYM	1428	broad.mit.edu	37	16	21272573	21272573	+	Splice_Site	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:21272573A>T	ENST00000219599.3	-	9	1146		c.e9+1		CRYM_ENST00000396023.2_Splice_Site|CRYM_ENST00000543948.1_Splice_Site|CRYM_ENST00000415987.2_Splice_Site	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu						negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	AATGGATCTTACCCAAAGACT	0.502000													12	53					0	0	0.105934	0	0
NDUFA10	4705	broad.mit.edu	37	2	240954260	240954260	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:240954260C>T	ENST00000252711.2	-	5	665	c.565G>A	c.(565-567)Gag>Aag	p.E189K	NDUFA10_ENST00000404554.1_Missense_Mutation_p.E189K|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E229K	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	189					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CTCTTCACCTCGTTGTAGTGG	0.552000													7	63					0	0	0.248553	0	0
LRRC6	23639	broad.mit.edu	37	8	133596026	133596026	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:133596026C>T	ENST00000250173.1	-	11	1214	c.1141G>A	c.(1141-1143)Gta>Ata	p.V381I	LRRC6_ENST00000518642.1_Intron|LRRC6_ENST00000519595.1_Intron	NM_012472.3	NP_036604.2	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	381	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTCTCCTACCTAAAATAAA	0.353000													39	48					0	0	0.235728	0	0
TAF3	83860	broad.mit.edu	37	10	8007409	8007409	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:8007409A>G	ENST00000344293.5	+	3	2142	c.1936A>G	c.(1936-1938)Aag>Gag	p.K646E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	646	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGAGAAGATAAGATGAAAGC	0.478000													48	172					0	0	0.139131	0	0
RSAD2	91543	broad.mit.edu	37	2	7023645	7023645	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:7023645A>G	ENST00000382040.3	+	2	626	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	RSAD2_ENST00000541728.1_Missense_Mutation_p.R57G	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	164					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GATCCGGGAGAGGTGGTTCCA	0.498000													8	70					0	0	0.278610	0	0
ALMS1	7840	broad.mit.edu	37	2	73716791	73716791	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:73716791A>T	ENST00000264448.6	+	10	7813	c.7702A>T	c.(7702-7704)Aag>Tag	p.K2568*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.K2526*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2568					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						AATGGGATGCAAGCCAGAAGC	0.393000													12	192					0	0	0.093190	0	0
RRP7A	27341	broad.mit.edu	37	22	42914107	42914107	+	Silent	SNP	G	G	C	rs11553438		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:42914107G>C	ENST00000323013.6	-	2	135	c.120C>G	c.(118-120)ctC>ctG	p.L40L		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	40							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CTCTCACATAGAGGTAGTGAG	0.537000													4	21					0	0	0.184627	0	0
FAT4	79633	broad.mit.edu	37	4	126398444	126398444	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:126398444C>A	ENST00000394329.3	+	13	12441	c.12428C>A	c.(12427-12429)cCt>cAt	p.P4143H	FAT4_ENST00000335110.5_Missense_Mutation_p.P2406H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4143	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGGAAGGCCTCTGGAACCC	0.418000													16	178					1.15088e-07	1.2978e-07	0.146539	1	0
PTPN9	5780	broad.mit.edu	37	15	75809618	75809618	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:75809618T>C	ENST00000306726.2	-	5	1022	c.510A>G	c.(508-510)aaA>aaG	p.K170K		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	170	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTTTAGGACTTTCTTGCCAA	0.388000													6	56					0	0	0.248553	0	0
OR8H1	219469	broad.mit.edu	37	11	56057934	56057934	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:56057934G>T	ENST00000313022.2	-	1	632	c.605C>A	c.(604-606)gCt>gAt	p.A202D		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGTGGAACCAGCTAAAATGTG	0.413000													35	138					6.90743e-12	8.05756e-12	0.193644	1	0
LMOD3	56203	broad.mit.edu	37	3	69168276	69168276	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:69168276G>C	ENST00000420581.2	-	2	1409	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	LMOD3_ENST00000475434.1_Silent_p.L410L|LMOD3_ENST00000489031.1_Silent_p.L410L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	410						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTGTTCCTTGAGTTGCTGCT	0.517000													15	132					0	0	0.146539	0	0
MEOX2	4223	broad.mit.edu	37	7	15652220	15652220	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:15652220T>A	ENST00000262041.5	-	3	1116	c.707A>T	c.(706-708)cAa>cTa	p.Q236L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	236					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCGCCTGTTTTGGAACCAGAC	0.423000													10	105					0	0	0.069234	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632189	111632189	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:111632189C>A	ENST00000431670.2	+	3	1770	c.1359C>A	c.(1357-1359)atC>atA	p.I453I	PHLDB2_ENST00000393923.3_Silent_p.I480I|PHLDB2_ENST00000481953.1_Silent_p.I453I|PHLDB2_ENST00000393925.3_Silent_p.I453I|PHLDB2_ENST00000477695.1_Silent_p.I453I|PHLDB2_ENST00000412622.1_Silent_p.I453I|PHLDB2_ENST00000495180.1_Silent_p.I39I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	453						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGAGACCATCCTCAGTCTCT	0.498000													25	248					4.26978e-12	4.9855e-12	0.279207	1	0
OR51B6	390058	broad.mit.edu	37	11	5373120	5373120	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:5373120T>C	ENST00000380219.1	+	1	383	c.383T>C	c.(382-384)tTa>tCa	p.L128S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCAGCCCCTTAAGATATACC	0.463000													19	83					0	0	0.175082	0	0
ANK2	287	broad.mit.edu	37	4	114257930	114257930	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:114257930C>T	ENST00000357077.4	+	31	3842	c.3789C>T	c.(3787-3789)agC>agT	p.S1263S	ANK2_ENST00000506722.1_Silent_p.S1254S|ANK2_ENST00000264366.6_Silent_p.S1230S|ANK2_ENST00000509550.1_Silent_p.S439S|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Silent_p.S1263S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1230					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACTATGCAGCATAACAGGTG	0.383000													5	70					0	0	0.184627	0	0
SP5	389058	broad.mit.edu	37	2	171572999	171572999	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:171572999G>A	ENST00000375281.3	+	2	444	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GCTTGGGGCTGACGCCGCAGA	0.726000													4	33					0	0	0.150653	0	0
ABCC5	10057	broad.mit.edu	37	3	183700381	183700381	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:183700381C>G	ENST00000334444.6	-	7	1097	c.857G>C	c.(856-858)aGa>aCa	p.R286T	ABCC5_ENST00000265586.6_Missense_Mutation_p.R286T|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	286	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCAAACATTCTCTGCCCATC	0.483000													10	96					0	0	0.105934	0	0
KNTC1	9735	broad.mit.edu	37	12	123068997	123068997	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:123068997G>A	ENST00000333479.7	+	35	3613	c.3436G>A	c.(3436-3438)Gat>Aat	p.D1146N	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1146					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTGCAGTCCAGGTGACAATAT	0.418000													17	91					0	0	0.160694	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579344	49579344	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:49579344G>T	ENST00000301071.7	-	4	1149	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	TUBA1A_ENST00000550767.1_Missense_Mutation_p.L234M|TUBA1A_ENST00000295766.5_Missense_Mutation_p.L269M	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	269					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TATGTGGCCAGAGGGAAGTGG	0.522000													9	110					0.0477658	0.0482806	0.047766	1	0
CCDC116	164592	broad.mit.edu	37	22	21991193	21991193	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:21991193T>C	ENST00000292779.3	+	5	1837	c.1676T>C	c.(1675-1677)tTg>tCg	p.L559S		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	32										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTCAGCCCTTTGGAGCCCAAG	0.617000													6	129					0	0	0.248553	0	0
USP20	10868	broad.mit.edu	37	9	132637007	132637007	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:132637007G>A	ENST00000315480.4	+	18	2051	c.1893G>A	c.(1891-1893)tcG>tcA	p.S631S	USP20_ENST00000358355.1_Silent_p.S631S|USP20_ENST00000372429.3_Silent_p.S631S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	631					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCTCCTCTCGGTCATCTGCC	0.652000													17	101					0	0	0.175082	0	0
C16orf91	283951	broad.mit.edu	37	16	1470433	1470433	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:1470433T>A	ENST00000310355.1	-	4	683	c.684A>T	c.(682-684)ggA>ggT	p.G228G	C16orf91_ENST00000442039.2_Silent_p.G71G|C16orf91_ENST00000563974.1_Silent_p.G4G			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	71						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCGCTGATGTCCCTTTCCCA	0.637000													7	98					0	0	0.248553	0	0
BAP1	8314	broad.mit.edu	37	3	52437490	52437490	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:52437490G>C	ENST00000460680.1	-	13	2142	c.1671C>G	c.(1669-1671)atC>atG	p.I557M	BAP1_ENST00000296288.5_Missense_Mutation_p.I539M	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	557					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGCCTGTGCTGATGACAGGAC	0.612000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							10	101					0	0	0.080935	0	0
SLC7A1	6541	broad.mit.edu	37	13	30110316	30110316	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:30110316T>C	ENST00000380752.5	-	3	396	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	4					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAGGACTTTGCACCCCATG	0.488000													10	150					0	0	0.069234	0	0
FAM98A	25940	broad.mit.edu	37	2	33809904	33809904	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:33809904T>A	ENST00000238823.8	-	8	1636	c.1496A>T	c.(1495-1497)cAg>cTg	p.Q499L	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.Q304L			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	500	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACCTCCATGCTGGAAATGCTG	0.498000													61	274					0	0	0.139131	0	0
JMJD6	23210	broad.mit.edu	37	17	74721688	74721688	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:74721688C>G	ENST00000445478.2	-	2	582	c.379G>C	c.(379-381)Gat>Cat	p.D127H	JMJD6_ENST00000585429.1_Missense_Mutation_p.D127H|JMJD6_ENST00000397625.4_Missense_Mutation_p.D127H	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	127					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AGGGGACTATCATCTCGAGTG	0.423000													6	154					0	0	0.217242	0	0
UBE3B	89910	broad.mit.edu	37	12	109921380	109921380	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:109921380G>A	ENST00000342494.3	+	3	619	c.24G>A	c.(22-24)tcG>tcA	p.S8S	UBE3B_ENST00000340074.5_Silent_p.S8S|UBE3B_ENST00000537063.1_Silent_p.S8S|UBE3B_ENST00000434735.2_Silent_p.S8S|UBE3B_ENST00000540230.1_Silent_p.S8S|UBE3B_ENST00000280774.5_Silent_p.S8S|UBE3B_ENST00000536398.1_Silent_p.S8S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	8					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCAGACCTCGAGAGCATGGT	0.517000													11	90					0	0	0.069234	0	0
TP53BP2	7159	broad.mit.edu	37	1	223971942	223971942	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:223971942C>A	ENST00000391878.2	-	18	3619	c.2851G>T	c.(2851-2853)Gat>Tat	p.D951Y	TP53BP2_ENST00000391879.2_Missense_Mutation_p.D313Y|TP53BP2_ENST00000343537.7_Missense_Mutation_p.D1080Y|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	1074	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGCAGCTCATCATCATTCTGA	0.438000													14	156					7.93312e-07	8.85575e-07	0.119110	1	0
ZNF560	147741	broad.mit.edu	37	19	9577799	9577799	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9577799G>C	ENST00000301480.4	-	10	2037	c.1824C>G	c.(1822-1824)gcC>gcG	p.A608A		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTCTGTGAAGGCTTTTCCAC	0.418000													10	198					0	0	0.058154	0	0
NME5	8382	broad.mit.edu	37	5	137474370	137474370	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:137474370T>G	ENST00000265191.2	-	2	149	c.100A>C	c.(100-102)Att>Ctt	p.I34L		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	34					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATCTAAGAATAATATCTTGT	0.353000													14	57					0	0	0.105934	0	0
CCDC40	55036	broad.mit.edu	37	17	78055842	78055842	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:78055842G>A	ENST00000397545.4	+	12	2001	c.1974G>A	c.(1972-1974)aaG>aaA	p.K658K	CCDC40_ENST00000374877.3_Silent_p.K658K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	658					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCTGCAGAAGGAGAAGACCA	0.617000													3	52					0	0	0.115264	0	0
EPC1	80314	broad.mit.edu	37	10	32575748	32575748	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:32575748T>C	ENST00000319778.6	-	9	1567	c.1265A>G	c.(1264-1266)aAc>aGc	p.N422S	EPC1_ENST00000263062.8_Missense_Mutation_p.N422S|EPC1_ENST00000375110.2_Missense_Mutation_p.N372S	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	422					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CCAAGGCCAGTTGCCAGTTTG	0.363000													6	123					0	0	0.248553	0	0
CECR1	51816	broad.mit.edu	37	22	17690410	17690410	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:17690410T>A	ENST00000399839.1	-	2	428	c.158A>T	c.(157-159)aAc>aTc	p.N53I	CECR1_ENST00000399837.2_Missense_Mutation_p.N53I|CECR1_ENST00000262607.3_Missense_Mutation_p.N53I|CECR1_ENST00000449907.2_Missense_Mutation_p.N11I	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	53	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTCCTTGGTGTTCAGCACCAG	0.532000													8	54					0	0	0.047766	0	0
TAAR6	319100	broad.mit.edu	37	6	132892024	132892024	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:132892024A>G	ENST00000275198.1	+	1	564	c.564A>G	c.(562-564)ggA>ggG	p.G188G		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	188						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ACTGTATAGGAGGTTGTCAGA	0.418000													12	187					0	0	0.080935	0	0
BNC2	54796	broad.mit.edu	37	9	16437495	16437495	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:16437495A>T	ENST00000380672.4	-	6	754	c.697T>A	c.(697-699)Tgg>Agg	p.W233R	BNC2_ENST00000380666.2_Missense_Mutation_p.W233R|BNC2_ENST00000545497.1_Missense_Mutation_p.W138R|BNC2_ENST00000380667.2_Missense_Mutation_p.W166R	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGATGGCCCAGCGGTCCAGC	0.443000													6	57					0	0	0.248553	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536850	146536850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:146536850C>T	ENST00000361727.3	+	3	772	c.256C>T	c.(256-258)Cag>Tag	p.Q86*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	86	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAATGGCTTCAGGTTGACTT	0.473000										HNSCC(39;0.1)			8	67					0	0	0.278610	0	0
ZNF45	7596	broad.mit.edu	37	19	44419122	44419122	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:44419122T>A	ENST00000269973.5	-	10	1556	c.466A>T	c.(466-468)Aga>Tga	p.R156*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.R156*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	156					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GTGTGGACTCTGTGAACTTGA	0.413000													29	108					0	0	0.134883	0	0
RNPEP	6051	broad.mit.edu	37	1	201965291	201965291	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:201965291G>A	ENST00000295640.4	+	4	797	c.754G>A	c.(754-756)Gag>Aag	p.E252K	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Intron	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	252					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGTGTGGGCTGAGCCCTGCCT	0.493000													7	82					0	0	0.248553	0	0
KCNA5	3741	broad.mit.edu	37	12	5154862	5154862	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:5154862T>G	ENST00000252321.3	+	1	1778	c.1549T>G	c.(1549-1551)Tcc>Gcc	p.S517A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	517						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGTCATCGTCTCCAACTTCAA	0.632000													5	94					0	0	0.184627	0	0
KLRAP1	10748	broad.mit.edu	37	12	10748326	10748326	+	RNA	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:10748326C>T	ENST00000510134.2	-	0	315																				breast(1)|large_intestine(1)|lung(1)	3						ATCTCATTTTCTCTATGACAT	0.318000													8	64					0	0	0.058154	0	0
LAMA1	284217	broad.mit.edu	37	18	6999989	6999989	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:6999989G>T	ENST00000389658.3	-	31	4483	c.4390C>A	c.(4390-4392)Ccc>Acc	p.P1464T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1464	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAAGTGGGACTAAAACTG	0.403000													7	60					0.00198382	0.00205461	0.248553	1	0
MRPS31	10240	broad.mit.edu	37	13	41303696	41303696	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:41303696G>C	ENST00000323563.6	-	7	1036	c.1000C>G	c.(1000-1002)Ctg>Gtg	p.L334V	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	334						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGTTTCTCCAGAAATATATGT	0.353000													5	43					0	0	0.217242	0	0
ZNF750	79755	broad.mit.edu	37	17	80789164	80789164	+	Translation_Start_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:80789164C>A	ENST00000572562.1	-	0	294				ZNF750_ENST00000269394.3_Missense_Mutation_p.K389N|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron			Q32MQ0	ZN750_HUMAN	zinc finger protein 750							intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCTGCCCAGCCTTGGAGGAGT	0.592000													9	163					0.000442599	0.000465111	0.058154	1	0
BTBD11	121551	broad.mit.edu	37	12	108051474	108051474	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:108051474T>C	ENST00000280758.5	+	17	3822	c.3294T>C	c.(3292-3294)tcT>tcC	p.S1098S	BTBD11_ENST00000420571.2_Silent_p.S979S|BTBD11_ENST00000357167.4_Silent_p.S635S|BTBD11_ENST00000494235.2_Silent_p.S177S	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1098						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACTTGTCGTCTTCCAAAGGTT	0.502000													12	69					0	0	0.093190	0	0
SPDYC	387778	broad.mit.edu	37	11	64940163	64940163	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:64940163A>T	ENST00000377185.2	+	6	607	c.525A>T	c.(523-525)gcA>gcT	p.A175A		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	175	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGGTCATGGCAAAGGAGCCAT	0.652000													8	81					0	0	0.278610	0	0
NYAP1	222950	broad.mit.edu	37	7	100085841	100085841	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100085841G>A	ENST00000423930.1	+	4	656	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	NYAP1_ENST00000454988.1_Missense_Mutation_p.R109Q|NYAP1_ENST00000300179.2_Missense_Mutation_p.R166Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	166																	AAGCCCAGGCGAAGCCCTAAC	0.617000													20	187					0	0	0.189662	0	0
ACTL8	81569	broad.mit.edu	37	1	18152290	18152290	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:18152290C>T	ENST00000375406.1	+	3	593	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	126						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CATGTCCCATCGGTCCTCCTG	0.582000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	46					0	0	0.080935	0	0
UBE2O	63893	broad.mit.edu	37	17	74387189	74387189	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:74387189T>C	ENST00000319380.7	-	18	3778	c.3714A>G	c.(3712-3714)agA>agG	p.R1238R		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1238							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGTAGCTCTTTCTCCGCTTCT	0.587000													14	125					0	0	0.105934	0	0
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													5	15					0.000602214	0.00063067	0.184627	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52704316	52704316	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:52704316G>A	ENST00000287727.3	+	4	1399	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZFYVE9_ENST00000371591.1_Silent_p.E409E|ZFYVE9_ENST00000357206.2_Silent_p.E409E			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	409					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AACTAAATGAGATGAATGATA	0.383000													26	150					0	0	0.279207	0	0
CTSG	1511	broad.mit.edu	37	14	25042868	25042868	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:25042868A>G	ENST00000216336.2	-	5	779	c.743T>C	c.(742-744)cTg>cCg	p.L248P		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	248					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATCTGATCCAGCAGTTTGAA	0.512000													41	305					0	0	0.268233	0	0
IGSF21	84966	broad.mit.edu	37	1	18691763	18691763	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:18691763C>G	ENST00000251296.1	+	6	970	c.587C>G	c.(586-588)tCa>tGa	p.S196*		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	196						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GTGCCCCTATCAGAGCCACCA	0.542000													12	121					0	0	0.093190	0	0
VPS13B	157680	broad.mit.edu	37	8	100155328	100155328	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:100155328G>C	ENST00000395996.1	+	13	1889	c.1778G>C	c.(1777-1779)aGg>aCg	p.R593T	VPS13B_ENST00000357162.2_Missense_Mutation_p.R593T|VPS13B_ENST00000358544.2_Missense_Mutation_p.R593T|VPS13B_ENST00000355155.1_Missense_Mutation_p.R593T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	593					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCGGTGCATAGGATTTTGAAA	0.388000													17	197					0	0	0.204396	0	0
NIT1	4817	broad.mit.edu	37	1	161088993	161088993	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:161088993G>T	ENST00000368008.1	+	3	227	c.168G>T	c.(166-168)tcG>tcT	p.S56S	NIT1_ENST00000392190.5_Silent_p.S20S|NIT1_ENST00000368009.2_Silent_p.S56S|NIT1_ENST00000368007.4_Silent_p.S41S|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	56	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGTAACATCGACGCCAGACA	0.552000													8	83					0.00448238	0.00461488	0.047766	1	0
DGKB	1607	broad.mit.edu	37	7	14378159	14378159	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:14378159C>G	ENST00000403951.2	-	23	2525	c.2106G>C	c.(2104-2106)gaG>gaC	p.E702D	DGKB_ENST00000399322.3_Missense_Mutation_p.E702D|DGKB_ENST00000407950.1_Missense_Mutation_p.E694D|DGKB_ENST00000444700.2_Missense_Mutation_p.E683D|DGKB_ENST00000406247.3_Missense_Mutation_p.E702D|DGKB_ENST00000402815.1_Missense_Mutation_p.E701D|DGKB_ENST00000258767.5_Missense_Mutation_p.E702D|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	702					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAAACTTCAACTCTTTGGCAT	0.393000													14	186					0	0	0.105934	0	0
KLHL36	79786	broad.mit.edu	37	16	84693388	84693388	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:84693388G>T	ENST00000564996.1	+	4	1301	c.1160G>T	c.(1159-1161)cGt>cTt	p.R387L	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	387										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AACCAGCGCCGTGTGGATTTC	0.577000													8	87					1.12685e-05	1.23085e-05	0.047766	1	0
SPATA2	9825	broad.mit.edu	37	20	48524789	48524789	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:48524789G>C	ENST00000422556.1	-	2	588	c.239C>G	c.(238-240)tCt>tGt	p.S80C	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.S80C	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	80	Poly-Ser.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCGCAGGCTAGAGGAGCTGAG	0.572000													8	174					0	0	0.278610	0	0
TBC1D16	125058	broad.mit.edu	37	17	77922710	77922710	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:77922710A>G	ENST00000310924.2	-	8	1617	c.1502T>C	c.(1501-1503)tTc>tCc	p.F501S	TBC1D16_ENST00000570373.1_Missense_Mutation_p.F140S|TBC1D16_ENST00000576768.1_Missense_Mutation_p.F126S|TBC1D16_ENST00000572862.1_Missense_Mutation_p.F139S|TBC1D16_ENST00000340848.7_Missense_Mutation_p.F139S	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCCCCGGAAGAACTGGTTGTT	0.572000													5	120					0	0	0.184627	0	0
IL17RE	132014	broad.mit.edu	37	3	9948763	9948763	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:9948763G>A	ENST00000454190.2	+	6	730	c.645G>A	c.(643-645)ctG>ctA	p.L215L	IL17RE_ENST00000421412.1_Silent_p.L248L|IL17RE_ENST00000295980.3_Silent_p.L215L|IL17RE_ENST00000383814.3_Silent_p.L215L	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	215						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GTGAAGAGCTGAGCAGTCCCT	0.537000													14	152					0	0	0.146539	0	0
ABCA8	10351	broad.mit.edu	37	17	66928619	66928619	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:66928619A>G	ENST00000269080.2	-	6	744	c.607T>C	c.(607-609)Tca>Cca	p.S203P	ABCA8_ENST00000586539.1_Missense_Mutation_p.S203P|ABCA8_ENST00000430352.2_Missense_Mutation_p.S203P	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	203						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCAGTAACTGACATCAGCTCC	0.338000													8	112					0	0	0.047766	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68115450	68115450	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:68115450G>C	ENST00000262215.3	-	36	5385	c.4996C>G	c.(4996-4998)Caa>Gaa	p.Q1666E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q504E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q1120E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1666					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTTGGTCTTGAGTATCAACG	0.373000													5	118					0	0	0.217242	0	0
MYO9A	4649	broad.mit.edu	37	15	72338661	72338661	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:72338661G>C	ENST00000356056.5	-	2	716	c.244C>G	c.(244-246)Cca>Gca	p.P82A	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.P82A|MYO9A_ENST00000444904.1_Missense_Mutation_p.P82A|MYO9A_ENST00000564571.1_Missense_Mutation_p.P82A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	82	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGCTGAACTGGACAATCTGTT	0.418000													40	62					0	0	0.214465	0	0
NF1	4763	broad.mit.edu	37	17	29527520	29527520	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:29527520C>T	ENST00000358273.4	+	9	1352	c.969C>T	c.(967-969)gcC>gcT	p.A323A	NF1_ENST00000431387.4_Silent_p.A323A|NF1_ENST00000356175.3_Silent_p.A323A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	323					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAATTGCCTGTGTCAAAC	0.408000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	104					0	0	0.093190	0	0
CSMD3	114788	broad.mit.edu	37	8	113421228	113421228	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:113421228G>A	ENST00000297405.5	-	33	5673	c.5429C>T	c.(5428-5430)tCa>tTa	p.S1810L	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1770L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1706L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1810	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCGTGGAGTGATGTCTGGAA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	171					0	0	0.217242	0	0
MCF2	4168	broad.mit.edu	37	X	138680590	138680590	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:138680590A>G	ENST00000520602.1	-	20	2369	c.2084T>C	c.(2083-2085)aTc>aCc	p.I695T	MCF2_ENST00000338585.6_Missense_Mutation_p.I651T|MCF2_ENST00000370573.4_Missense_Mutation_p.I635T|MCF2_ENST00000414978.1_Missense_Mutation_p.I695T|MCF2_ENST00000519895.1_Missense_Mutation_p.I711T|MCF2_ENST00000370578.4_Missense_Mutation_p.I780T|MCF2_ENST00000536274.1_Missense_Mutation_p.I596T|MCF2_ENST00000370576.4_Missense_Mutation_p.I635T			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	635	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATATTTAGTGATTCGTTGCAC	0.284000													4	25					0	0	0.184627	0	0
NBEA	26960	broad.mit.edu	37	13	36229815	36229815	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:36229815C>G	ENST00000540320.1	+	54	8762	c.8228C>G	c.(8227-8229)tCt>tGt	p.S2743C	NBEA_ENST00000537702.1_Missense_Mutation_p.S536C|NBEA_ENST00000400445.3_Missense_Mutation_p.S2743C|NBEA_ENST00000310336.4_Missense_Mutation_p.S2743C|NBEA_ENST00000379939.2_Missense_Mutation_p.S2740C|NBEA_ENST00000379922.3_Missense_Mutation_p.S321C			Q8NFP9	NBEA_HUMAN	neurobeachin	2743						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGTCCGGATCTCGAGATGCC	0.507000													17	110					0	0	0.146539	0	0
UHRF1	29128	broad.mit.edu	37	19	4950977	4950977	+	RNA	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:4950977A>G	ENST00000592666.1	+	0	2363							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGGGAAGGACCGGATCAAG	0.587000													3	29					0	0	0.115264	0	0
GFPT1	2673	broad.mit.edu	37	2	69555423	69555423	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:69555423G>T	ENST00000357308.4	-	18	2051	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K	GFPT1_ENST00000361060.5_Missense_Mutation_p.Q607K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	625	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ACCACTTGCTGAAGAGCATTC	0.453000													19	135					7.45023e-12	8.68243e-12	0.219247	1	0
OTUD7A	161725	broad.mit.edu	37	15	31819389	31819389	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:31819389T>A	ENST00000382902.1	-	5	867	c.775A>T	c.(775-777)Aag>Tag	p.K259*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.K259*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	259	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCAACCTCCTTATTCTGCTGC	0.627000													13	165					0	0	0.093190	0	0
DLAT	1737	broad.mit.edu	37	11	111896985	111896985	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:111896985G>C	ENST00000280346.6	+	2	1002	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	DLAT_ENST00000393051.1_Missense_Mutation_p.E115Q|DLAT_ENST00000537636.1_Missense_Mutation_p.E13Q	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	115	Lipoyl-binding 1.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GGAAAAAAAAGAGGGGGACAA	0.338000													8	29					0	0	0.278610	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104075373	104075373	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:104075373C>A	ENST00000395862.3	+	10	904	c.745C>A	c.(745-747)Cgt>Agt	p.R249S	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R174S|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R249S|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R174S	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	249					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ATTCATTGTTCGTGACTTCCA	0.279000													10	71					3.86212e-05	4.1443e-05	0.069234	1	0
PRDM13	59336	broad.mit.edu	37	6	100062504	100062504	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:100062504G>A	ENST00000369215.4	+	4	2298	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AGCGGGCGACGGCCCGGGTGC	0.682000													7	95					0	0	0.248553	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947751	57947751	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:57947751G>A	ENST00000335397.3	+	3	1151	c.835G>A	c.(835-837)Gag>Aag	p.E279K		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCTTTACACAGAGGTCATCCC	0.468000													17	111					0	0	0.146539	0	0
ANKRD54	129138	broad.mit.edu	37	22	38228685	38228685	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:38228685C>T	ENST00000215941.4	-	7	979	c.787G>A	c.(787-789)Gac>Aac	p.D263N	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D143N|ANKRD54_ENST00000609454.1_Missense_Mutation_p.D70N|ANKRD54_ENST00000411961.2_Missense_Mutation_p.D247N	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	263										lung(1)	1	Melanoma(58;0.045)					GTGCAGAGGTCATCCAGGCGT	0.612000													7	59					0	0	0.047766	0	0
SYVN1	84447	broad.mit.edu	37	11	64897639	64897639	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:64897639A>T	ENST00000526060.1	-	13	1432	c.1240T>A	c.(1240-1242)Tct>Act	p.S414T	SYVN1_ENST00000307289.6_Missense_Mutation_p.S363T|SYVN1_ENST00000294256.8_Missense_Mutation_p.S414T|SYVN1_ENST00000377190.3_Missense_Mutation_p.S415T			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	415	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTGGGCCGAGAAAGGGCTGCT	0.617000													7	25					0	0	0.248553	0	0
TRAM2	9697	broad.mit.edu	37	6	52380902	52380902	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:52380902G>A	ENST00000182527.3	-	4	312	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	105					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TTGGAGAGATGAAGCCGTTTG	0.413000													9	170					0	0	0.058154	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237532	140237532	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140237532G>A	ENST00000307360.5	+	1	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTACGACGCGCGCTCTGG	0.637000													5	63					0	0	0.184627	0	0
KCNC2	3747	broad.mit.edu	37	12	75444822	75444822	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:75444822C>G	ENST00000549446.1	-	3	1643	c.963G>C	c.(961-963)gtG>gtC	p.V321V	KCNC2_ENST00000298972.1_Silent_p.V321V|KCNC2_ENST00000548513.1_Silent_p.V321V|KCNC2_ENST00000341669.3_Silent_p.V321V|KCNC2_ENST00000550433.1_Silent_p.V321V|KCNC2_ENST00000350228.2_Silent_p.V321V|KCNC2_ENST00000540018.1_Silent_p.V321V|KCNC2_ENST00000393288.2_Silent_p.V321V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	321					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V321V(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTAGGATGGCCACAAAGTCAA	0.408000													4	127					0	0	0.150653	0	0
BMS1	9790	broad.mit.edu	37	10	43318678	43318678	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:43318678T>A	ENST00000374518.5	+	20	3308	c.3245T>A	c.(3244-3246)tTc>tAc	p.F1082Y		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGGAGCTTTCAGGGCCAGC	0.512000													16	110					0	0	0.189662	0	0
TGM4	7047	broad.mit.edu	37	3	44948662	44948662	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:44948662G>T	ENST00000296125.4	+	10	1365	c.1297G>T	c.(1297-1299)Gat>Tat	p.D433Y		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	433					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CAGGCGGAGAGATATCACCTA	0.493000													23	221					1.64293e-13	1.93128e-13	0.279207	1	0
TTN	7273	broad.mit.edu	37	2	179463972	179463972	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179463972G>T	ENST00000589042.1	-	290	56772	c.56548C>A	c.(56548-56550)Cta>Ata	p.L18850I	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16282I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9910I|TTN_ENST00000460472.2_Missense_Mutation_p.L9785I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9977I|TTN_ENST00000591111.1_Missense_Mutation_p.L17209I|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17209	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCTTCTAGCAATTTGGGA	0.423000													23	226					3.62473e-10	4.18027e-10	0.234183	1	0
SFXN3	81855	broad.mit.edu	37	10	102794532	102794532	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:102794532T>A	ENST00000393459.1	+	3	554	c.81T>A	c.(79-81)ttT>ttA	p.F27L	SFXN3_ENST00000224807.5_Missense_Mutation_p.F31L			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	31					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCGGCACTTTTTCACTGTTA	0.512000													61	144					0	0	0.139131	0	0
ASMTL	8623	broad.mit.edu	37	X	1546656	1546656	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:1546656C>G	ENST00000534940.1	-	7	919	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.E214Q|ASMTL_ENST00000381333.4_Missense_Mutation_p.E274Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.E290Q	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	290					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAATCAGCTCCAGGAGGCGT	0.577000													30	244					0	0	0.183431	0	0
FIGN	55137	broad.mit.edu	37	2	164467838	164467838	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:164467838A>G	ENST00000333129.3	-	3	818	c.504T>C	c.(502-504)tgT>tgC	p.C168C	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	168						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTGGCTTCCACAGGTACTAC	0.502000													5	71					0	0	0.217242	0	0
HSP90B1	7184	broad.mit.edu	37	12	104337524	104337524	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:104337524G>A	ENST00000299767.5	+	14	2081	c.1899G>A	c.(1897-1899)aaG>aaA	p.K633K		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	633					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AGATTGAAAAGGCTGTGGTGT	0.423000													7	73					0	0	0.278610	0	0
ALPK2	115701	broad.mit.edu	37	18	56247695	56247695	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:56247695C>T	ENST00000361673.3	-	4	526	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	105	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GATGAGCACTCAACCTCAACG	0.438000													20	231					0	0	0.189662	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938731	119938731	+	Splice_Site	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:119938731A>T	ENST00000297350.4	-	4	1196		c.e4+1			NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b						apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGATTATCATACCTTGGATGA	0.348000													6	186					0	0	0.248553	0	0
ZNF304	57343	broad.mit.edu	37	19	57868061	57868061	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:57868061G>A	ENST00000391705.3	+	4	1108	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ZNF304_ENST00000282286.5_Missense_Mutation_p.G275E|ZNF304_ENST00000598744.1_Missense_Mutation_p.G233E|ZNF304_ENST00000443917.2_Missense_Mutation_p.G322E	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATCCACAGTGGAGAAATATCT	0.408000													6	113					0	0	0.248553	0	0
BAGE2	85319	broad.mit.edu	37	21	11098818	11098818	+	RNA	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:11098818C>A	ENST00000470054.1	-	0	107									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ttgccaccaccatccagagcg	0.627000													28	88					1.32003e-05	1.43033e-05	0.108266	1	0
IRF5	3663	broad.mit.edu	37	7	128582186	128582186	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:128582186G>A	ENST00000402030.2	+	2	123	c.51G>A	c.(49-51)ctG>ctA	p.L17L	IRF5_ENST00000477535.1_Silent_p.L17L|IRF5_ENST00000473745.1_Silent_p.L17L|IRF5_ENST00000357234.5_Silent_p.L17L|IRF5_ENST00000249375.4_Silent_p.L17L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	17					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCGTGCGGCTGAAGCCCTGGC	0.627000													6	81					0	0	0.248553	0	0
DPAGT1	1798	broad.mit.edu	37	11	118968230	118968230	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:118968230T>A	ENST00000409993.2	-	9	2500	c.949A>T	c.(949-951)Agc>Tgc	p.S317C	DPAGT1_ENST00000354202.4_Missense_Mutation_p.S317C|DPAGT1_ENST00000432443.2_Missense_Mutation_p.S210C			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	317					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTGGAATAGCTCATCTCCAGT	0.483000													18	156					0	0	0.175082	0	0
SLC7A1	6541	broad.mit.edu	37	13	30104737	30104737	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:30104737A>G	ENST00000380752.5	-	5	1028	c.642T>C	c.(640-642)gtT>gtC	p.V214V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	214					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCAGTTTTTAACCGATCCTT	0.443000													19	233					0	0	0.175082	0	0
AKNA	80709	broad.mit.edu	37	9	117139798	117139798	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:117139798C>T	ENST00000307564.4	-	3	450	c.289G>A	c.(289-291)Gat>Aat	p.D97N	AKNA_ENST00000312033.3_Missense_Mutation_p.D97N|AKNA_ENST00000374075.5_Missense_Mutation_p.D16N|AKNA_ENST00000374088.3_Missense_Mutation_p.D97N	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTGTCCACATCCTCTGCTTCA	0.562000													5	52					0	0	0.184627	0	0
AMY2B	280	broad.mit.edu	37	1	104118137	104118137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:104118137G>A	ENST00000361355.4	+	9	1692	c.1076G>A	c.(1075-1077)tGg>tAg	p.W359*	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	359					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGCTACCGTTGGCCAAGACAG	0.333000													31	314					0	0	0.134883	0	0
FAM124B	79843	broad.mit.edu	37	2	225266479	225266479	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:225266479C>T	ENST00000389874.3	-	1	232	c.7G>A	c.(7-9)Gag>Aag	p.E3K	FAM124B_ENST00000409685.3_Missense_Mutation_p.E3K|FAM124B_ENST00000243806.2_Missense_Mutation_p.E3K	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	3							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CCCTGTGTCTCATCCATGGAG	0.552000													6	41					0	0	0.217242	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954783	72954783	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:72954783C>T	ENST00000421285.3	+	11	1038	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	346										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAGATGCTCCGAGAGCAGG	0.557000													135	144					0	0	0.139131	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	62					0	0	0.150653	0	0
PARP3	10039	broad.mit.edu	37	3	51978422	51978422	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:51978422C>G	ENST00000417220.2	+	5	817	c.329C>G	c.(328-330)tCa>tGa	p.S110*	PARP3_ENST00000398755.3_Nonsense_Mutation_p.S117*|PARP3_ENST00000431474.1_Nonsense_Mutation_p.S110*			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	110					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCGGCCAGTCAAAGATCAAC	0.542000													26	284					0	0	0.099896	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877356	24877356	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:24877356C>A	ENST00000382554.3	+	3	798	c.480C>A	c.(478-480)acC>acA	p.T160T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	160					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGAGGTGACCCGGGCCTTTG	0.687000													4	23					0.00909568	0.00928613	0.150653	1	0
ACADS	35	broad.mit.edu	37	12	121176138	121176138	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:121176138A>C	ENST00000242592.4	+	6	831	c.680A>C	c.(679-681)aAa>aCa	p.K227T	ACADS_ENST00000411593.2_Missense_Mutation_p.K223T	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	227						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	TTGGGGAAGAAAGAAGACAAG	0.617000													11	73					0	0	0.080935	0	0
ATP13A2	23400	broad.mit.edu	37	1	17318585	17318585	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:17318585G>A	ENST00000452699.1	-	19	2219	c.2030C>T	c.(2029-2031)gCt>gTt	p.A677V	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.A682V|ATP13A2_ENST00000341676.5_Missense_Mutation_p.A677V	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	682					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GTAGCCAGCAGCTGTATAGCT	0.657000													10	97					0	0	0.080935	0	0
ANXA7	310	broad.mit.edu	37	10	75138735	75138735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:75138735G>T	ENST00000372921.5	-	12	1268	c.1212C>A	c.(1210-1212)taC>taA	p.Y404*	ANXA7_ENST00000535178.1_Nonsense_Mutation_p.Y274*	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TCATAGCATAGTAGAGCCTCT	0.517000													14	39					6.31663e-08	7.16276e-08	0.132662	1	0
NEURL4	84461	broad.mit.edu	37	17	7226066	7226066	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7226066G>C	ENST00000399464.2	-	16	2728	c.2713C>G	c.(2713-2715)Ctg>Gtg	p.L905V	NEURL4_ENST00000570460.1_Missense_Mutation_p.L881V|NEURL4_ENST00000315614.7_Missense_Mutation_p.L903V	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGAGTGCAGTGGGAAGGAC	0.617000													25	150					0	0	0.279207	0	0
HEATR1	55127	broad.mit.edu	37	1	236718869	236718869	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:236718869G>C	ENST00000366582.3	-	40	5850	c.5736C>G	c.(5734-5736)ttC>ttG	p.F1912L	HEATR1_ENST00000366581.2_Missense_Mutation_p.F1831L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1912					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAGGGGCCTGAATGTGACCT	0.413000													9	81					0	0	0.069234	0	0
PNKP	11284	broad.mit.edu	37	19	50370433	50370433	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:50370433A>G	ENST00000322344.3	-	2	138	c.29T>C	c.(28-30)tTg>tCg	p.L10S	PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Missense_Mutation_p.L10S|PNKP_ENST00000596014.1_Missense_Mutation_p.L10S|PNKP_ENST00000600573.1_Missense_Mutation_p.L10S	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	10					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTCGAGCCACAAGCGGCCCGG	0.711000								Other BER factors					8	32					0	0	0.278610	0	0
C12orf71	728858	broad.mit.edu	37	12	27234214	27234214	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:27234214C>T	ENST00000429849.2	-	2	733	c.703G>A	c.(703-705)Gtg>Atg	p.V235M		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	235										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GTGGCATTCACAGGGTGATCC	0.537000													9	141					0	0	0.047766	0	0
KATNAL1	84056	broad.mit.edu	37	13	30854219	30854219	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:30854219G>A	ENST00000380615.3	-	3	471	c.304C>T	c.(304-306)Cct>Tct	p.P102S	KATNAL1_ENST00000380617.3_Missense_Mutation_p.P102S	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	102						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCAGGAACAGGGGGTGGCCAA	0.388000													4	74					0	0	0.150653	0	0
INTS8	55656	broad.mit.edu	37	8	95848812	95848812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:95848812G>T	ENST00000523731.1	+	7	947	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.E272*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	272					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGCTGTCTATGAAAATGCCAG	0.353000													9	107					7.48243e-07	8.37565e-07	0.058154	1	0
PTPRT	11122	broad.mit.edu	37	20	40827976	40827976	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:40827976C>G	ENST00000373198.4	-	17	2687	c.2452G>C	c.(2452-2454)Ggg>Cgg	p.G818R	PTPRT_ENST00000373193.3_Missense_Mutation_p.G802R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G799R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G808R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G789R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G789R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G799R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCACAGGCCCCATCTCCCTC	0.557000													43	367					0	0	0.246493	0	0
MGA	23269	broad.mit.edu	37	15	41961909	41961909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:41961909C>T	ENST00000219905.7	+	2	998	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	MGA_ENST00000566586.1_Nonsense_Mutation_p.Q273*|MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Nonsense_Mutation_p.Q273*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q273*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q273*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	273						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGATGGAAAACAAAAGAACAG	0.433000													10	17					0	0	0.069234	0	0
PRODH	5625	broad.mit.edu	37	22	18918551	18918551	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:18918551C>T	ENST00000357068.6	-	2	699	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PRODH_ENST00000420436.1_Missense_Mutation_p.G37E|PRODH_ENST00000334029.2_Missense_Mutation_p.G37E	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	145					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CTCCTCCACTCCATAGTCCAG	0.617000													8	65					0	0	0.278610	0	0
ANKRD12	23253	broad.mit.edu	37	18	9254937	9254937	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:9254937C>G	ENST00000262126.4	+	9	1912	c.1672C>G	c.(1672-1674)Cta>Gta	p.L558V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L535V|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L535V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTCAACACCACTAAAACAAGA	0.323000													14	112					0	0	0.105934	0	0
ZNF10	7556	broad.mit.edu	37	12	133732700	133732700	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:133732700G>A	ENST00000248211.6	+	5	1090	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	ZNF10_ENST00000426665.2_Missense_Mutation_p.E290K|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.E156K	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCATACTGGAGAAAAACCCTA	0.418000													9	102					0	0	0.058154	0	0
ARMC4	55130	broad.mit.edu	37	10	28283854	28283854	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:28283854A>G	ENST00000305242.5	-	2	310	c.218T>C	c.(217-219)gTt>gCt	p.V73A		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	73							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTACCTGACAACATAACCTGA	0.393000													14	55					0	0	0.105934	0	0
ITPR2	3709	broad.mit.edu	37	12	26774199	26774199	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:26774199C>G	ENST00000381340.3	-	26	3735	c.3319G>C	c.(3319-3321)Gat>Cat	p.D1107H	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1107					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTGTAGTTATCTACGTCTTGA	0.363000													5	295					0	0	0.184627	0	0
PDP1	54704	broad.mit.edu	37	8	94935658	94935658	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:94935658G>C	ENST00000396200.3	+	3	1722	c.1446G>C	c.(1444-1446)caG>caC	p.Q482H	PDP1_ENST00000520728.1_Missense_Mutation_p.Q457H|PDP1_ENST00000517764.1_Missense_Mutation_p.Q457H|PDP1_ENST00000297598.4_Missense_Mutation_p.Q457H	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	457					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CTCTGGGACAGATGCATGGCC	0.502000													24	155					0	0	0.249174	0	0
NUP35	129401	broad.mit.edu	37	2	184023103	184023103	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:184023103A>T	ENST00000295119.4	+	7	805	c.702A>T	c.(700-702)gaA>gaT	p.E234D	NUP35_ENST00000409798.1_Missense_Mutation_p.E217D|NUP35_ENST00000541912.1_Missense_Mutation_p.E99D	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	234	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TTTTTGGAGAATCCATCATGA	0.378000													13	58					0	0	0.093190	0	0
CPXM2	119587	broad.mit.edu	37	10	125528081	125528081	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:125528081G>A	ENST00000241305.3	-	9	1414	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	420					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTTGAGGGAGGGGAGGACGT	0.627000													38	40					0	0	0.246493	0	0
GTF2H1	2965	broad.mit.edu	37	11	18362937	18362937	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:18362937G>T	ENST00000265963.4	+	6	897	c.737G>T	c.(736-738)tGt>tTt	p.C246F	GTF2H1_ENST00000524753.4_Missense_Mutation_p.C42F|GTF2H1_ENST00000534641.1_Missense_Mutation_p.C130F|GTF2H1_ENST00000453096.2_Missense_Mutation_p.C246F	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	246					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTTGCAGAATGTGCCAAAATA	0.388000								Nucleotide excision repair (NER)					21	131					4.35082e-09	4.97995e-09	0.219247	1	0
LAMA1	284217	broad.mit.edu	37	18	6961969	6961969	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:6961969C>A	ENST00000389658.3	-	52	7520	c.7427G>T	c.(7426-7428)gGa>gTa	p.G2476V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2476	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTCTCACTCCATAGGAATT	0.393000													15	208					0.00400662	0.00414607	0.146539	1	0
DENND4B	9909	broad.mit.edu	37	1	153906077	153906077	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:153906077G>T	ENST00000361217.4	-	20	3630	c.3212C>A	c.(3211-3213)tCc>tAc	p.S1071Y		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1071										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGGCAGGGGAGTGGCGGGA	0.726000													5	8					0.0293803	0.0297711	0.248553	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52704386	52704386	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:52704386G>A	ENST00000287727.3	+	4	1469	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G433S|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G433S			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	433					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGACACTAATGGTGATAGTGG	0.378000													35	199					0	0	0.214465	0	0
USP12	219333	broad.mit.edu	37	13	27680082	27680082	+	Splice_Site	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:27680082C>G	ENST00000282344.6	-	3	386		c.e3-1			NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12						protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TATTCCCAAACTGCAACAGAA	0.363000													6	47					0	0	0.217242	0	0
ZNF699	374879	broad.mit.edu	37	19	9413095	9413095	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9413095C>T	ENST00000591998.1	-	3	362	c.134G>A	c.(133-135)aGa>aAa	p.R45K	ZNF699_ENST00000308650.3_Missense_Mutation_p.R45K			Q32M78	ZN699_HUMAN	zinc finger protein 699	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCACATCTCTGTAGAGGTT	0.418000													7	130					0	0	0.248553	0	0
EPHA8	2046	broad.mit.edu	37	1	22902951	22902951	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:22902951G>C	ENST00000166244.3	+	3	473	c.401G>C	c.(400-402)gGg>gCg	p.G134A	EPHA8_ENST00000374644.4_Missense_Mutation_p.G134A|EPHA8_ENST00000538803.1_Missense_Mutation_p.G134A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	134						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCGACCTGGGGGCCAGCACA	0.587000													7	69					0	0	0.278610	0	0
ZUFSP	221302	broad.mit.edu	37	6	116972752	116972752	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:116972752C>T	ENST00000368576.3	-	7	1542	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	433						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTAGGGAGGTCAGGAGTATAT	0.378000													6	63					0	0	0.217242	0	0
OR52H1	390067	broad.mit.edu	37	11	5565817	5565817	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:5565817G>T	ENST00000322653.4	-	1	962	c.937C>A	c.(937-939)Ctt>Att	p.L313I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAACAAAAGTATAACCTTA	0.383000													16	76					2.31682e-05	2.4993e-05	0.132662	1	0
USP34	9736	broad.mit.edu	37	2	61516008	61516008	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:61516008T>A	ENST00000398571.2	-	34	4629	c.4553A>T	c.(4552-4554)cAg>cTg	p.Q1518L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1518					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACAGTCTAGCTGCCACTGTAA	0.343000													40	93					0	0	0.268233	0	0
NUP50	10762	broad.mit.edu	37	22	45574151	45574151	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:45574151G>C	ENST00000347635.4	+	5	839	c.373G>C	c.(373-375)Gtt>Ctt	p.V125L	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.V97L|NUP50_ENST00000396096.2_Missense_Mutation_p.V97L|NUP50_ENST00000486184.1_3'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa		5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TACCACCTTGGTTGATAAAGT	0.398000													10	90					0	0	0.069234	0	0
SACM1L	22908	broad.mit.edu	37	3	45761091	45761091	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:45761091G>C	ENST00000389061.5	+	8	881	c.677G>C	c.(676-678)aGa>aCa	p.R226T	SACM1L_ENST00000541314.1_Missense_Mutation_p.R165T|SACM1L_ENST00000418611.1_Missense_Mutation_p.R123T	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	226	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TATTATGTAAGAGGTGAGAAT	0.343000													3	58					0	0	0.115264	0	0
CAND2	23066	broad.mit.edu	37	3	12845086	12845086	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:12845086C>A	ENST00000456430.2	+	2	209	c.168C>A	c.(166-168)ctC>ctA	p.L56L	CAND2_ENST00000295989.5_Silent_p.L56L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	56					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTCCGGCTCCTGGAGGACA	0.612000													5	58					1.23904e-05	1.34616e-05	0.184627	1	0
NSMCE2	286053	broad.mit.edu	37	8	126369470	126369470	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:126369470A>C	ENST00000287437.3	+	6	644	c.428A>C	c.(427-429)cAa>cCa	p.Q143P	NSMCE2_ENST00000522563.1_Missense_Mutation_p.Q143P|NSMCE2_ENST00000517315.1_Missense_Mutation_p.Q83P	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	143					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GGTGGTCTTCAAGCTGACAGA	0.468000													4	61					0	0	0.184627	0	0
FSTL5	56884	broad.mit.edu	37	4	162402200	162402200	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:162402200A>G	ENST00000306100.5	-	13	2016	c.1580T>C	c.(1579-1581)gTt>gCt	p.V527A	FSTL5_ENST00000427802.2_Missense_Mutation_p.V517A|FSTL5_ENST00000379164.4_Missense_Mutation_p.V526A|FSTL5_ENST00000536695.1_Missense_Mutation_p.V526A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	527						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGCACATCAACAATAAGGAC	0.338000													44	102					0	0	0.279185	0	0
AP3D1	8943	broad.mit.edu	37	19	2109090	2109090	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:2109090A>G	ENST00000355272.6	-	30	3673	c.3467T>C	c.(3466-3468)tTt>tCt	p.F1156S	AP3D1_ENST00000350812.6_Missense_Mutation_p.F925S|AP3D1_ENST00000345016.5_Missense_Mutation_p.F1094S|AP3D1_ENST00000356926.4_Missense_Mutation_p.F1053S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1094					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTACCGGAAAAATGGTGGTG	0.562000													7	72					0	0	0.248553	0	0
L1CAM	3897	broad.mit.edu	37	X	153138055	153138055	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:153138055G>C	ENST00000370060.1	-	4	378	c.189C>G	c.(187-189)ccC>ccG	p.P63P	L1CAM_ENST00000543994.1_Silent_p.P65P|L1CAM_ENST00000361981.3_Silent_p.P58P|L1CAM_ENST00000361699.4_Silent_p.P63P|L1CAM_ENST00000538883.1_Silent_p.P65P|L1CAM_ENST00000370055.1_Silent_p.P58P|L1CAM_ENST00000370057.3_Silent_p.P63P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	63	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCACTTCGGGCTTGCCAC	0.602000													17	35					0	0	0.160694	0	0
STAB2	55576	broad.mit.edu	37	12	104125356	104125356	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:104125356A>C	ENST00000388887.2	+	50	5430	c.5226A>C	c.(5224-5226)caA>caC	p.Q1742H		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1742	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTTTGCAGCAAAATCTTACGA	0.338000													10	60					0	0	0.093190	0	0
RGPD3	653489	broad.mit.edu	37	2	107049675	107049675	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:107049675T>G	ENST00000409886.3	-	16	2359	c.2272A>C	c.(2272-2274)Agt>Cgt	p.S758R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S758R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	758					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCCTTCACTATAGTTTTCG	0.378000													57	576					0	0	0.139131	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182928492	182928492	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:182928492G>A	ENST00000409137.3	+	4	458	c.215G>A	c.(214-216)aGt>aAt	p.S72N	PPP1R1C_ENST00000280295.3_Missense_Mutation_p.S79N|PPP1R1C_ENST00000475249.1_3'UTR|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.S72N|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.S72N	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	72					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGGAAGCAGAGTGTGTACACA	0.463000													15	119					0	0	0.146539	0	0
CGNL1	84952	broad.mit.edu	37	15	57730788	57730788	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:57730788T>C	ENST00000281282.5	+	2	669	c.591T>C	c.(589-591)aaT>aaC	p.N197N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	197	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AACCTAGCAATTCCCAGCCTA	0.473000													30	214					0	0	0.134883	0	0
GCC1	79571	broad.mit.edu	37	7	127224300	127224300	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:127224300T>C	ENST00000321407.2	-	1	1361	c.937A>G	c.(937-939)Aag>Gag	p.K313E	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	313						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCTGATTCTTCTCATCTCGA	0.507000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	60					0	0	0.217242	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417505	150417505	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:150417505T>C	ENST00000307194.5	+	3	553	c.413T>C	c.(412-414)aTg>aCg	p.M138T		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGAGGGACATGTTCGGGGAG	0.637000													8	64					0	0	0.278610	0	0
CLEC4C	170482	broad.mit.edu	37	12	7890171	7890171	+	Splice_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:7890171C>A	ENST00000542353.1	-	5	726		c.e5-1		CLEC4C_ENST00000354629.5_Splice_Site|CLEC4C_ENST00000360345.3_Splice_Site|CLEC4C_ENST00000540085.1_Splice_Site	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C						innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CAGCTCCAATCTTCCCAAATG	0.363000													15	68					7.93312e-07	8.85575e-07	0.119110	1	0
VAV1	7409	broad.mit.edu	37	19	6843175	6843175	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:6843175C>T	ENST00000304076.2	+	21	2038	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	VAV1_ENST00000602142.1_Silent_p.L670L|VAV1_ENST00000596764.1_Silent_p.L638L|VAV1_ENST00000539284.1_Silent_p.L573L|VAV1_ENST00000599806.1_Silent_p.L615L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	670	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGTTCATCTCTGGTGAGTAG	0.488000													17	132					0	0	0.189662	0	0
MTFR2	113115	broad.mit.edu	37	6	136554530	136554530	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:136554530T>C	ENST00000420702.1	-	7	1366	c.977A>G	c.(976-978)gAt>gGt	p.D326G	MTFR2_ENST00000451457.2_Missense_Mutation_p.D326G	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		AAAAGAATCATCTTCTTGAAA	0.348000													7	53					0	0	0.248553	0	0
FAT1	2195	broad.mit.edu	37	4	187517722	187517722	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:187517722C>T	ENST00000441802.2	-	25	13181	c.12972G>A	c.(12970-12972)caG>caA	p.Q4324Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4324					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCTAGGCTTCTGGATGGAGT	0.527000										HNSCC(5;0.00058)			6	65					0	0	0.217242	0	0
BRD7	29117	broad.mit.edu	37	16	50354577	50354577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:50354577C>A	ENST00000394688.3	-	14	1768	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.E538*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	537					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CACTTACCTTCAGAGTCAAAA	0.438000													19	204					3.32936e-07	3.74054e-07	0.175082	1	0
XPO7	23039	broad.mit.edu	37	8	21827719	21827719	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:21827719T>C	ENST00000434536.1	+	4	426	c.324T>C	c.(322-324)ctT>ctC	p.L108L	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Silent_p.L109L|XPO7_ENST00000252512.9_Silent_p.L108L			Q9UIA9	XPO7_HUMAN	exportin 7	108					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CACAAGCACTTATTCAGTTAT	0.408000													27	167					0	0	0.116897	0	0
MIIP	60672	broad.mit.edu	37	1	12082181	12082181	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:12082181C>T	ENST00000235332.4	+	3	313	c.144C>T	c.(142-144)aaC>aaT	p.N48N	MIIP_ENST00000436478.2_Silent_p.N48N	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	48										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCAGCTACAACTCAGAGACTC	0.652000													15	122					0	0	0.146539	0	0
PDIA2	64714	broad.mit.edu	37	16	333263	333263	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:333263G>C	ENST00000219406.6	+	1	112	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	PDIA2_ENST00000404312.1_Missense_Mutation_p.E32Q	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	32	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCCTCGGAGGAGCCTCCAGA	0.667000													6	64					0	0	0.217242	0	0
TESK1	7016	broad.mit.edu	37	9	35606022	35606022	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:35606022G>A	ENST00000336395.5	+	2	511	c.261G>A	c.(259-261)atG>atA	p.M87I	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	87	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGAAGATGAACAAGCTCC	0.652000													4	93					0	0	0.150653	0	0
CTC-360G5.8	0	broad.mit.edu	37	19	39435729	39435729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:39435729C>A	ENST00000599996.1	-	4	285	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	FBXO17_ENST00000292852.4_Missense_Mutation_p.E191D|FBXO17_ENST00000595329.1_Missense_Mutation_p.E191D|SARS2_ENST00000448145.2_Missense_Mutation_p.E26D																							AGCCGCAGTTCTCTCGAGCGC	0.632000													68	55					1.15062e-32	1.38324e-32	0.139131	1	0
FETUB	26998	broad.mit.edu	37	3	186362598	186362598	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:186362598C>T	ENST00000265029.3	+	4	584	c.483C>T	c.(481-483)gaC>gaT	p.D161D	FETUB_ENST00000450521.1_Silent_p.D161D|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Silent_p.D124D|FETUB_ENST00000382134.3_Silent_p.D96D|FETUB_ENST00000539949.1_Silent_p.D13D	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	161	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TACCCACTGACTCTTCCAATC	0.418000													25	201					0	0	0.125774	0	0
MEF2A	4205	broad.mit.edu	37	15	100230548	100230548	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:100230548G>T	ENST00000354410.5	+	8	1408	c.779G>T	c.(778-780)gGt>gTt	p.G260V	MEF2A_ENST00000449277.2_Missense_Mutation_p.G190V|MEF2A_ENST00000557942.1_Missense_Mutation_p.G258V|MEF2A_ENST00000453228.2_Missense_Mutation_p.G258V|MEF2A_ENST00000557785.1_Missense_Mutation_p.G258V|MEF2A_ENST00000558812.1_Missense_Mutation_p.G190V|MEF2A_ENST00000338042.6_Missense_Mutation_p.G258V	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	260					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CCTCCACCAGGTGGTGGTAAT	0.453000													6	29					0.00116845	0.00121634	0.217242	1	0
LRRC31	79782	broad.mit.edu	37	3	169579586	169579586	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:169579586G>A	ENST00000316428.5	-	2	248	c.191C>T	c.(190-192)tCa>tTa	p.S64L	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.S64L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S64L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	64								p.S64L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTCCATTTCTGAACTGAGAGG	0.378000													23	207					0	0	0.234183	0	0
MAP3K2	10746	broad.mit.edu	37	2	128075805	128075805	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:128075805T>A	ENST00000409947.1	-	13	1416	c.1134A>T	c.(1132-1134)acA>acT	p.T378T	MAP3K2_ENST00000344908.5_Silent_p.T378T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	378	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATTCTCTTCCTGTATCAACAT	0.443000													10	147					0	0	0.069234	0	0
PLCG1	5335	broad.mit.edu	37	20	39795497	39795497	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:39795497G>C	ENST00000373272.2	+	19	2704	c.2299G>C	c.(2299-2301)Gct>Cct	p.A767P	PLCG1_ENST00000373271.1_Missense_Mutation_p.A767P|PLCG1_ENST00000244007.3_Missense_Mutation_p.A767P	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	767					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GATTGGCACAGCTGTGAGGGG	0.547000													12	118					0	0	0.080935	0	0
ITGA2	3673	broad.mit.edu	37	5	52369038	52369038	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:52369038A>G	ENST00000296585.5	+	20	2663	c.2520A>G	c.(2518-2520)ggA>ggG	p.G840G		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	840					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACAACACTGGAATTGTTGTTG	0.368000													29	156					0	0	0.125774	0	0
AHRR	57491	broad.mit.edu	37	5	354021	354021	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:354021T>C	ENST00000316418.5	+	3	295	c.251T>C	c.(250-252)tTc>tCc	p.F84S	AHRR_ENST00000515206.1_Missense_Mutation_p.F80S|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Missense_Mutation_p.F84S	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAGCTTCTTCCAAGGTAGG	0.587000													21	61					0	0	0.234183	0	0
KLK2	3817	broad.mit.edu	37	19	51377990	51377990	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:51377990C>G	ENST00000325321.3	+	2	285	c.60C>G	c.(58-60)ctC>ctG	p.L20L	AC037199.1_ENST00000594218.1_Intron|KLK2_ENST00000358049.4_Silent_p.L20L|KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_Intron			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	20					proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCGTGCCCCTCATCCAGTCTC	0.602000			T	ETV4	prostate								7	82					0	0	0.248553	0	0
EPHB1	2047	broad.mit.edu	37	3	134898818	134898818	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:134898818G>A	ENST00000398015.3	+	10	2246	c.1876G>A	c.(1876-1878)Gga>Aga	p.G626R	EPHB1_ENST00000493838.1_Missense_Mutation_p.G187R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	626	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGAGGTCATCGGAGCAGGTAT	0.468000													27	77					0	0	0.108266	0	0
PAN2	9924	broad.mit.edu	37	12	56718405	56718405	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:56718405A>T	ENST00000425394.2	-	11	2064	c.1688T>A	c.(1687-1689)cTg>cAg	p.L563Q	PAN2_ENST00000257931.5_Missense_Mutation_p.L563Q|PAN2_ENST00000440411.3_Missense_Mutation_p.L563Q|PAN2_ENST00000548043.1_Missense_Mutation_p.L563Q	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	563					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CATGTGAAACAGGAAGCCCAG	0.488000													6	80					0	0	0.248553	0	0
CES3	23491	broad.mit.edu	37	16	66997179	66997179	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:66997179T>C	ENST00000303334.4	+	2	251	c.180T>C	c.(178-180)ttT>ttC	p.F60F	CES3_ENST00000394037.1_Silent_p.F60F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	60						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGAATGTCTTTCTGGGCATTC	0.657000													11	115					0	0	0.093190	0	0
USP41	373856	broad.mit.edu	37	22	20723763	20723763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:20723763G>A	ENST00000454608.2	-	8	582	c.583C>T	c.(583-585)Cga>Tga	p.R195*	USP41_ENST00000486536.2_5'UTR					ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						AAAGAAAGTCGGAGGGTGAGC	0.478000													5	72					0	0	0.184627	0	0
TBL1X	6907	broad.mit.edu	37	X	9682998	9682998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:9682998G>A	ENST00000217964.7	+	17	2302	c.1662G>A	c.(1660-1662)tgG>tgA	p.W554*	TBL1X_ENST00000424279.1_Nonsense_Mutation_p.W503*|TBL1X_ENST00000536365.1_Nonsense_Mutation_p.W503*|TBL1X_ENST00000407597.2_Nonsense_Mutation_p.W554*|TBL1X_ENST00000380961.1_Nonsense_Mutation_p.W503*	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	554					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGGTGTGCTGGAACGCCCGAG	0.602000													4	26					0	0	0.184627	0	0
RTEL1	51750	broad.mit.edu	37	20	62320485	62320485	+	Splice_Site	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:62320485G>T	ENST00000318100.4	+	22	2705	c.1878G>T	c.(1876-1878)aaG>aaT	p.K626N	RTEL1_ENST00000360203.5_Splice_Site_p.K626N|RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.K626N|RTEL1_ENST00000508582.2_Splice_Site_p.K650N|RTEL1_ENST00000370018.3_Splice_Site_p.K626N	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	626					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCGGGGCAAGGTGAGCTCTC	0.662000													12	154					6.40141e-05	6.83902e-05	0.080935	1	0
EAF1	85403	broad.mit.edu	37	3	15471459	15471459	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:15471459G>A	ENST00000396842.2	+	2	568	c.143G>A	c.(142-144)gGa>gAa	p.G48E	EAF1_ENST00000432764.2_5'UTR	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						TCCTGTGAAGGAGAGCTTCAA	0.363000													5	122					0	0	0.217242	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951468	88951468	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:88951468C>T	ENST00000268679.4	-	7	1499	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R292H|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R330H|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R282H|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R282H|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	368	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGGCCGATGGCGCTCTCGTAG	0.677000			T	RUNX1	AML								8	20					0	0	0.047766	0	0
DKK4	27121	broad.mit.edu	37	8	42234463	42234463	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:42234463C>T	ENST00000220812.2	-	1	287	c.101G>A	c.(100-102)gGg>gAg	p.G34E		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	34					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTTCCGGGCCCCATGCAGGTC	0.587000													4	53					0	0	0.150653	0	0
EMR1	2015	broad.mit.edu	37	19	6926466	6926466	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:6926466G>C	ENST00000312053.4	+	16	2113	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	EMR1_ENST00000381407.5_Missense_Mutation_p.L551F|EMR1_ENST00000450315.3_Missense_Mutation_p.L515F|EMR1_ENST00000250572.8_Missense_Mutation_p.L627F|EMR1_ENST00000381404.4_Missense_Mutation_p.L640F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	692					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TACTGTTCTTGATGGTCAGAA	0.542000													30	72					0	0	0.153744	0	0
KRIT1	889	broad.mit.edu	37	7	91851315	91851315	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:91851315T>A	ENST00000394507.1	-	15	2247	c.1464A>T	c.(1462-1464)ccA>ccT	p.P488P	KRIT1_ENST00000394505.2_Silent_p.P488P|KRIT1_ENST00000412043.2_Silent_p.P488P|KRIT1_ENST00000394503.2_Silent_p.P440P|KRIT1_ENST00000340022.2_Silent_p.P488P	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	488	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAGTATTTCTGGCCAGTCAC	0.368000													11	99					0	0	0.080935	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820268	179820268	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:179820268C>T	ENST00000367612.3	-	4	652	c.265G>A	c.(265-267)Gag>Aag	p.E89K	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.E89K	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	89						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TGCTTGTTCTCATCTTCTGTT	0.453000													51	60					0	0	0.139131	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378207	31378207	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:31378207C>G	ENST00000297142.3	-	2	998	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	226					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D226H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTGGAATTATCAAGAGTCCCA	0.532000													22	106					0	0	0.234183	0	0
TTN	7273	broad.mit.edu	37	2	179412413	179412413	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179412413C>T	ENST00000589042.1	-	339	94164	c.93940G>A	c.(93940-93942)Ggc>Agc	p.G31314S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28746S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22374S|TTN_ENST00000460472.2_Missense_Mutation_p.G22249S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22441S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29673S|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29673	Fibronectin type-III 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATGGGGCCGGTTACTGGA	0.463000													4	145					0	0	0.150653	0	0
IGHG3	3502	broad.mit.edu	37	14	106236190	106236190	+	RNA	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:106236190G>T	ENST00000390551.2	-	0	613																											CGTACCACTTGAACTGGACCT	0.597000													23	142					2.70639e-06	2.99645e-06	0.249174	1	0
ZNF208	7757	broad.mit.edu	37	19	22157443	22157443	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:22157443A>G	ENST00000397126.4	-	4	541	c.393T>C	c.(391-393)aaT>aaC	p.N131N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTAAGTTTATTATAACCTT	0.318000													4	137					0	0	0.150653	0	0
PRRG3	79057	broad.mit.edu	37	X	150869283	150869283	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:150869283G>T	ENST00000370353.3	+	4	864	c.474G>T	c.(472-474)gtG>gtT	p.V158V	PRRG3_ENST00000538575.1_Silent_p.V158V			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	158						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGTGGTGCTGGGGCCCA	0.682000													10	42					9.70103e-10	1.11457e-09	0.069234	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604044	140604044	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140604044G>A	ENST00000239449.4	+	1	967	c.967G>A	c.(967-969)Gat>Aat	p.D323N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D170N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGGCAACAGATGGTGGGGG	0.368000													7	103					0	0	0.047766	0	0
AOX1	316	broad.mit.edu	37	2	201533367	201533367	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:201533367A>G	ENST00000374700.2	+	33	3880	c.3639A>G	c.(3637-3639)ggA>ggG	p.G1213G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1213					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGGCATGGGACTTTATACAA	0.418000													21	114					0	0	0.219247	0	0
SYPL2	284612	broad.mit.edu	37	1	110018260	110018260	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:110018260A>T	ENST00000369872.3	+	3	403	c.187A>T	c.(187-189)Atg>Ttg	p.M63L	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.M63L	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	63	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GACAGGAGCAATGGTTCGCTG	0.527000													9	49					0	0	0.047766	0	0
KCNC3	3748	broad.mit.edu	37	19	50826707	50826707	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:50826707C>A	ENST00000376959.2	-	2	1666	c.1503G>T	c.(1501-1503)atG>atT	p.M501I	KCNC3_ENST00000477616.1_Missense_Mutation_p.M501I|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	501					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCAGGGTCGTCATGGTGACCA	0.632000													11	123					4.68919e-08	5.32723e-08	0.069234	1	0
ATR	545	broad.mit.edu	37	3	142254048	142254048	+	Splice_Site	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:142254048C>G	ENST00000350721.4	-	21	3941		c.e21-1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related						cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAGGTCTCCTATATACAAA	0.368000								Other conserved DNA damage response genes					4	100					0	0	0.150653	0	0
SPATA19	219938	broad.mit.edu	37	11	133715273	133715273	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:133715273T>C	ENST00000299140.3	-	1	123	c.69A>G	c.(67-69)atA>atG	p.I23M	SPATA19_ENST00000532889.1_Missense_Mutation_p.I23M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	23					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CCGAACTGGTTATTGGTAGGA	0.438000													13	74					0	0	0.119110	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229458	140229458	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140229458T>C	ENST00000378122.3	+	1	2102	c.1378T>C	c.(1378-1380)Tac>Cac	p.Y460H	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.Y460H|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTCCGAGTACACGGTGTT	0.672000													40	127					0	0	0.225048	0	0
DIDO1	11083	broad.mit.edu	37	20	61513152	61513152	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:61513152C>T	ENST00000266070.4	-	16	4481	c.4156G>A	c.(4156-4158)Gac>Aac	p.D1386N	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1386N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1386					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTCAGGGTCGTATGGCCTG	0.612000													16	184					0	0	0.146539	0	0
CELA3A	10136	broad.mit.edu	37	1	22331955	22331955	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:22331955G>C	ENST00000290122.3	+	3	164	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	CELA3A_ENST00000374663.1_Missense_Mutation_p.E49Q	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCAGTATGAGAAAAGTGG	0.582000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	132					0	0	0.217242	0	0
NINL	22981	broad.mit.edu	37	20	25481559	25481559	+	Missense_Mutation	SNP	C	C	T	rs140736402	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:25481559C>T	ENST00000278886.6	-	8	1022	c.949G>A	c.(949-951)Gat>Aat	p.D317N	NINL_ENST00000422516.1_Missense_Mutation_p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	317					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGAACCATCGTCAATGCTG	0.582000													8	51					0	0	0.047766	0	0
TMC4	147798	broad.mit.edu	37	19	54664229	54664229	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:54664229G>C	ENST00000376591.4	-	14	2176	c.2045C>G	c.(2044-2046)tCt>tGt	p.S682C	TMC4_ENST00000416963.1_Missense_Mutation_p.S264C|TMC4_ENST00000301187.4_Missense_Mutation_p.S676C	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	682						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					tttgagctcagagatgaggcg	0.582000													5	104					0	0	0.278610	0	0
ZNF764	92595	broad.mit.edu	37	16	30567284	30567284	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:30567284T>C	ENST00000395091.2	-	3	770	c.455A>G	c.(454-456)aAg>aGg	p.K152R	ZNF764_ENST00000252797.2_Missense_Mutation_p.K153R|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GTGCGGTGCCTTGGACAGCTG	0.706000													7	48					0	0	0.248553	0	0
CHMP3	51652	broad.mit.edu	37	2	86790447	86790447	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:86790447C>T	ENST00000263856.4	-	1	153	c.25G>A	c.(25-27)Gag>Aag	p.E9K	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409727.1_Missense_Mutation_p.E9K	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		GGCGGCTTCTCCTGGGTCTTT	0.612000													64	301					0	0	0.139131	0	0
RPRM	56475	broad.mit.edu	37	2	154334832	154334832	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:154334832T>G	ENST00000325926.3	-	1	490	c.248A>C	c.(247-249)aAg>aCg	p.K83T	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	83					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						GCCCTCGGACTTGATGAGCAG	0.617000													10	44					0	0	0.080935	0	0
MLLT6	4302	broad.mit.edu	37	17	36863216	36863216	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:36863216C>T	ENST00000325718.7	+	2	214	c.123C>T	c.(121-123)atC>atT	p.I41I	MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Silent_p.I41I	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	41					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCTATGGCATCGTTCAGGTGC	0.602000			T	MLL	AL								21	36					0	0	0.219247	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867342	2867342	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:2867342C>T	ENST00000254695.8	+	7	562	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.R139W|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.R158W|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.R143W	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	158					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGGCCTACCGGAGGCACTT	0.637000													7	75					0	0	0.248553	0	0
SGIP1	84251	broad.mit.edu	37	1	67145420	67145420	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:67145420T>A	ENST00000371037.4	+	14	876	c.799T>A	c.(799-801)Tta>Ata	p.L267I	SGIP1_ENST00000237247.6_Missense_Mutation_p.L271I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L235I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L224I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L234I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	267	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGGATCCCCCTTAACAATTGG	0.468000													47	97					0	0	0.139131	0	0
RAB18	22931	broad.mit.edu	37	10	27826906	27826906	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:27826906A>G	ENST00000356940.6	+	7	649	c.547A>G	c.(547-549)Aaa>Gaa	p.K183E	RAB18_ENST00000375802.3_Missense_Mutation_p.K138E|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Missense_Mutation_p.K119E	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	183					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GAACCAGAATAAAGGAGTCAA	0.453000													20	163					0	0	0.219247	0	0
ZGPAT	84619	broad.mit.edu	37	20	62365031	62365031	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:62365031A>G	ENST00000328969.5	+	4	938	c.811A>G	c.(811-813)Aca>Gca	p.T271A	ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000355969.6_Missense_Mutation_p.T271A|ZGPAT_ENST00000357119.4_Missense_Mutation_p.T271A|ZGPAT_ENST00000448100.2_Missense_Mutation_p.T271A|ZGPAT_ENST00000369967.3_Missense_Mutation_p.T271A|RP4-583P15.15_ENST00000490623.2_Silent_p.A176A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	271					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCACTGCGCACAGAGGCCAC	0.642000													11	289					0	0	0.069234	0	0
LRFN2	57497	broad.mit.edu	37	6	40359914	40359914	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:40359914G>A	ENST00000338305.6	-	3	2680	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	713						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCTCCAACGGCAAGGGGAG	0.741000													4	21					0	0	0.150653	0	0
MAP3K5	4217	broad.mit.edu	37	6	136922962	136922962	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:136922962T>C	ENST00000359015.4	-	20	3195	c.2835A>G	c.(2833-2835)aaA>aaG	p.K945K	MAP3K5_ENST00000355845.4_Silent_p.K192K	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	945					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTTGTGTCTTTTTCTTTTTGC	0.378000													6	49					0	0	0.217242	0	0
CLDN14	23562	broad.mit.edu	37	21	37833564	37833564	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:37833564C>A	ENST00000399137.1	-	3	1296	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	CLDN14_ENST00000342108.2_Missense_Mutation_p.V144L|CLDN14_ENST00000399136.1_Missense_Mutation_p.V144L|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.V144L|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.V144L	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	144					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						AAGTTCTGCACCACGTCGTTG	0.622000													12	90					4.36969e-10	5.02989e-10	0.105934	1	0
AMIGO3	386724	broad.mit.edu	37	3	49755780	49755780	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:49755780A>G	ENST00000535833.1	-	10	4569	c.1119T>C	c.(1117-1119)ttT>ttC	p.F373F	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.F373F|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	373					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGGGCGCGGAAAGTGCACGC	0.642000													9	72					0	0	0.047766	0	0
CNNM4	26504	broad.mit.edu	37	2	97427798	97427798	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:97427798C>T	ENST00000377075.2	+	1	1160	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	354	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATAATGACCTCGTGAAAGAGG	0.512000													11	93					0	0	0.080935	0	0
C2orf54	79919	broad.mit.edu	37	2	241831177	241831177	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:241831177G>A	ENST00000307486.8	-	2	169	c.71C>T	c.(70-72)tCg>tTg	p.S24L	C2orf54_ENST00000402775.2_Missense_Mutation_p.S5L|C2orf54_ENST00000388934.4_Missense_Mutation_p.S173L	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	173										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGCGTTCAGCGAACCTGCAAA	0.652000													5	43					0	0	0.184627	0	0
KANK1	23189	broad.mit.edu	37	9	731234	731234	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:731234A>G	ENST00000382303.1	+	9	3625	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K	KANK1_ENST00000382297.2_Silent_p.K991K|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.K833K	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	991					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ATGGCGCAAAAAAGAATCTTC	0.388000													10	34					0	0	0.069234	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538357	27538357	+	RNA	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:27538357C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GCAGAAGGTTCAATCTCTGTT	0.522000													10	316					0.000442599	0.000465111	0.058154	1	0
RAB26	25837	broad.mit.edu	37	16	2201726	2201726	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:2201726C>T	ENST00000210187.6	+	4	539	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	RAB26_ENST00000541451.1_Missense_Mutation_p.R61C	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	127					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						GGAGCGGTTCCGCAGTGTTAC	0.637000													4	52					0	0	0.150653	0	0
INPPL1	3636	broad.mit.edu	37	11	71948264	71948264	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:71948264C>T	ENST00000541756.1	+	26	3180	c.2250C>T	c.(2248-2250)gtC>gtT	p.V750V	INPPL1_ENST00000538751.1_Silent_p.V750V|INPPL1_ENST00000298229.2_Silent_p.V992V			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	992					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGAAGGGGTCCCGCACCAGC	0.637000													12	221					0	0	0.093190	0	0
MYH8	4626	broad.mit.edu	37	17	10293860	10293860	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:10293860C>G	ENST00000403437.2	-	40	5819	c.5725G>C	c.(5725-5727)Gcc>Ccc	p.A1909P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1909					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTTCCTCGGCCTCCTCCAGC	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	165					0	0	0.146539	0	0
MAGI3	260425	broad.mit.edu	37	1	114184842	114184842	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:114184842C>T	ENST00000369615.1	+	10	1732	c.1670C>T	c.(1669-1671)tCa>tTa	p.S557L	MAGI3_ENST00000369617.4_Missense_Mutation_p.S582L|MAGI3_ENST00000369611.4_Missense_Mutation_p.S557L|MAGI3_ENST00000307546.9_Missense_Mutation_p.S557L	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	582					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		AATGGACCATCAGATGCAAGT	0.483000													6	106					0	0	0.217242	0	0
IL2RG	3561	broad.mit.edu	37	X	70330430	70330430	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:70330430T>A	ENST00000374202.2	-	3	469	c.378A>T	c.(376-378)caA>caT	p.Q126H	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	126					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CAACAAATGTTTGGTAGAGGT	0.453000									Severe Combined Immunodeficiency, X-linked				18	36					0	0	0.175082	0	0
PDIA3	2923	broad.mit.edu	37	15	44060766	44060766	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:44060766A>G	ENST00000300289.5	+	9	1256	c.1108A>G	c.(1108-1110)Atc>Gtc	p.I370V	PDIA3_ENST00000538521.1_Missense_Mutation_p.I350V	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	370	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GTCTGAACCTATCCCAGAGAG	0.483000													5	93					0	0	0.248553	0	0
ABCA13	154664	broad.mit.edu	37	7	48390339	48390339	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:48390339G>A	ENST00000435803.1	+	30	10328	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3435					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCACTGAACCGTTTCCAGGCT	0.502000													4	103					0	0	0.184627	0	0
CDH23	64072	broad.mit.edu	37	10	73550139	73550139	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:73550139G>C	ENST00000224721.6	+	45	6038	c.6033G>C	c.(6031-6033)caG>caC	p.Q2011H		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2006	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGGTGCCCAGAGTGGCCTCT	0.632000													5	30					0	0	0.184627	0	0
PROS1	5627	broad.mit.edu	37	3	93611943	93611943	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:93611943C>T	ENST00000394236.3	-	10	1305	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	PROS1_ENST00000407433.1_Missense_Mutation_p.R199Q	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	330	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATCATATGTCCGGAAATCAAA	0.388000													4	50					0	0	0.150653	0	0
MASTL	84930	broad.mit.edu	37	10	27475391	27475391	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:27475391G>A	ENST00000375946.4	+	12	3166	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MASTL_ENST00000342386.6_Missense_Mutation_p.D817N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.D856N	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	856	AGC-kinase C-terminal.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCCAGATGATGAAACAGA	0.413000													9	183					0	0	0.058154	0	0
NOX3	50508	broad.mit.edu	37	6	155732368	155732368	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:155732368T>G	ENST00000159060.2	-	11	1537	c.1435A>C	c.(1435-1437)Acc>Ccc	p.T479P		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	479							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCCCAGCCGGTAAGAAATATA	0.393000													8	41					0	0	0.047766	0	0
NELFB	25920	broad.mit.edu	37	9	140157639	140157639	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:140157639G>A	ENST00000343053.4	+	5	1085	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		CGACCTGGACGTGGGTGAAAT	0.632000													28	46					0	0	0.153744	0	0
SCN2A	6326	broad.mit.edu	37	2	166211047	166211047	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:166211047G>A	ENST00000375437.2	+	17	3555	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1089K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1089K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1089K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1089					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1089K(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTCGTGGATGAAAGTGATTA	0.373000													32	122					0	0	0.193644	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2																						CACTGAGCAACAACTGCCATG	0.488000													5	113					0	0	0.217242	0	0
ZNF519	162655	broad.mit.edu	37	18	14105972	14105972	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:14105972T>C	ENST00000590202.1	-	3	719	c.567A>G	c.(565-567)gtA>gtG	p.V189V	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ATTGGTAAAATACTTTTTCAC	0.274000													6	86					0	0	0.217242	0	0
CNDP2	55748	broad.mit.edu	37	18	72178174	72178174	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:72178174G>A	ENST00000324262.4	+	6	899	c.583G>A	c.(583-585)Gac>Aac	p.D195N	CNDP2_ENST00000324301.8_Missense_Mutation_p.D111N|CNDP2_ENST00000579847.1_Missense_Mutation_p.D195N	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	195						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGCATTTCTGACAATTACTG	0.512000													22	48					0	0	0.219247	0	0
TENM1	10178	broad.mit.edu	37	X	123517711	123517711	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:123517711T>C	ENST00000422452.2	-	30	7133	c.7070A>G	c.(7069-7071)tAc>tGc	p.Y2357C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Y2350C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAAGTCAGGGTAAGTGTCATG	0.433000													24	30					0	0	0.279207	0	0
RYR3	6263	broad.mit.edu	37	15	33955004	33955004	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:33955004A>G	ENST00000389232.4	+	35	5343	c.5273A>G	c.(5272-5274)cAt>cGt	p.H1758R	RYR3_ENST00000415757.3_Missense_Mutation_p.H1758R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1758	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTGGGGAGCATAGTGCGGGG	0.572000													17	94					0	0	0.146539	0	0
TM9SF4	9777	broad.mit.edu	37	20	30729416	30729416	+	Missense_Mutation	SNP	G	G	A	rs147800118	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:30729416G>A	ENST00000217315.5	+	4	635	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TM9SF4_ENST00000398022.2_Missense_Mutation_p.E116K			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	116						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGACAGTGGAGCAGAGCCG	0.572000													15	214					0	0	0.132662	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390385	38390385	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:38390385A>T	ENST00000329553.2	+	4	661	c.451A>T	c.(451-453)Aag>Tag	p.K151*	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		CCCAGGGGGAAAGGGCAGAGA	0.642000													9	57					0	0	0.058154	0	0
KLHDC1	122773	broad.mit.edu	37	14	50176509	50176509	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:50176509T>A	ENST00000359332.2	+	3	340	c.250T>A	c.(250-252)Ttt>Att	p.F84I		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	84						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GCTGTACATTTTTGGAGGATA	0.388000													10	70					0	0	0.058154	0	0
APOB	338	broad.mit.edu	37	2	21226052	21226052	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:21226052A>T	ENST00000233242.1	-	29	12369	c.12242T>A	c.(12241-12243)cTt>cAt	p.L4081H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4081					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAATCATAAAGGACCCCTGT	0.473000													39	355					0	0	0.214465	0	0
COL1A2	1278	broad.mit.edu	37	7	94057007	94057007	+	Silent	SNP	C	C	T	rs34691365	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:94057007C>T	ENST00000297268.6	+	49	3807	c.3336C>T	c.(3334-3336)taC>taT	p.Y1112Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1112					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTTGGTTACGATGGAGACT	0.547000										HNSCC(75;0.22)			9	109					0	0	0.058154	0	0
RLBP1	6017	broad.mit.edu	37	15	89755130	89755130	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:89755130G>C	ENST00000268125.5	-	7	967	c.528C>G	c.(526-528)atC>atG	p.I176M		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	176	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	ATGCCTGCAAGATCTTGGGCA	0.463000													4	47					0	0	0.150653	0	0
SPTBN1	6711	broad.mit.edu	37	2	54893189	54893189	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:54893189T>C	ENST00000356805.4	+	34	7078	c.6797T>C	c.(6796-6798)cTt>cCt	p.L2266P		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2266	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAGTGGCCCTTGATTACAAA	0.478000													28	217					0	0	0.108266	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088268	147088268	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:147088268G>T	ENST00000370467.3	+	3	518	c.444G>T	c.(442-444)ctG>ctT	p.L148L		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	148	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTAATGAGCTGCAAGATCTTA	0.383000													19	94					8.00594e-06	8.79211e-06	0.189662	1	0
FPR2	2358	broad.mit.edu	37	19	52272243	52272243	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:52272243G>T	ENST00000598776.1	+	2	1104	c.332G>T	c.(331-333)gGa>gTa	p.G111V	FPR2_ENST00000340023.6_Missense_Mutation_p.G111V|FPR2_ENST00000598953.1_Missense_Mutation_p.G111V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	111					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AACCTCTTTGGAAGTGTCTTC	0.493000													65	102					1.41401e-22	1.69154e-22	0.139131	1	0
MCRS1	10445	broad.mit.edu	37	12	49954106	49954106	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:49954106C>T	ENST00000550165.1	-	10	1119	c.853G>A	c.(853-855)Gag>Aag	p.E285K	MCRS1_ENST00000546244.1_Missense_Mutation_p.E94K|MCRS1_ENST00000343810.4_Missense_Mutation_p.E285K|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.E298K			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	285					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						ATCAGGTCCTCTGCATCAGAG	0.567000													39	445					0	0	0.246493	0	0
STRA8	346673	broad.mit.edu	37	7	134916761	134916761	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:134916761T>A	ENST00000275764.3	+	1	31	c.31T>A	c.(31-33)Ttt>Att	p.F11I		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	11					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CAAGATCCTCTTTTTCAATCA	0.483000													11	92					0	0	0.093190	0	0
CYP3A5	1577	broad.mit.edu	37	7	99272187	99272187	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:99272187C>T	ENST00000343703.5	-	4	543	c.157G>A	c.(157-159)Gag>Aag	p.E53K	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.E63K|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E63K|CYP3A5_ENST00000480723.1_5'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TTATAGCACTCTGTGTCAAAT	0.398000													5	79					0	0	0.217242	0	0
STOX2	56977	broad.mit.edu	37	4	184938384	184938384	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:184938384G>A	ENST00000308497.4	+	4	4163	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	910					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAATGAAGCTGAGAAGCTACA	0.532000													5	19					0	0	0.217242	0	0
FGD5	152273	broad.mit.edu	37	3	14862277	14862277	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:14862277G>C	ENST00000285046.5	+	1	1809	c.1699G>C	c.(1699-1701)Gag>Cag	p.E567Q	FGD5_ENST00000543601.1_Missense_Mutation_p.E326Q	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	567					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCAGGAGCCTGAGGGGTCAGG	0.547000													7	59					0	0	0.278610	0	0
NR2E1	7101	broad.mit.edu	37	6	108502831	108502831	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:108502831C>T	ENST00000368986.4	+	8	1679	c.971C>T	c.(970-972)aCg>aTg	p.T324M	NR2E1_ENST00000368983.3_Missense_Mutation_p.T361M	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	324	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCTCAGCTAACGCTCAACAGC	0.473000													5	254					0	0	0.184627	0	0
NEURL4	84461	broad.mit.edu	37	17	7230070	7230070	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7230070A>G	ENST00000399464.2	-	4	1067	c.1052T>C	c.(1051-1053)gTc>gCc	p.V351A	NEURL4_ENST00000570460.1_Missense_Mutation_p.V329A|NEURL4_ENST00000315614.7_Missense_Mutation_p.V351A	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGGTCATGACAACCCCATT	0.527000													8	45					0	0	0.278610	0	0
USP7	7874	broad.mit.edu	37	16	8988666	8988666	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:8988666T>C	ENST00000344836.4	-	29	3284	c.3086A>G	c.(3085-3087)gAc>gGc	p.D1029G	USP7_ENST00000381886.4_Missense_Mutation_p.D1013G|USP7_ENST00000535863.1_Missense_Mutation_p.D930G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1029					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTCCTGGATGTCCAGCAGGCT	0.587000													19	169					0	0	0.249174	0	0
FRMD5	84978	broad.mit.edu	37	15	44166475	44166475	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:44166475C>T	ENST00000417257.1	-	14	1497	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	FRMD5_ENST00000402883.1_Missense_Mutation_p.E441K|FRMD5_ENST00000484674.1_Missense_Mutation_p.E347K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	441						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AACATCAGCTCCAGGCTGTGC	0.592000													10	140					0	0	0.058154	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:55128600C>T	ENST00000370862.3	+	4	1078	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000													5	53					0	0	0.217242	0	0
LOC440040	440040	broad.mit.edu	37	11	49831447	49831447	+	RNA	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:49831447C>A	ENST00000527477.1	+	0	1672																											ACTTTCACCTCTGGCAAGTAT	0.448000													30	33					4.74835e-14	5.60333e-14	0.153744	1	0
CCL22	6367	broad.mit.edu	37	16	57394419	57394419	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:57394419C>A	ENST00000219235.4	+	2	189	c.144C>A	c.(142-144)cgC>cgA	p.R48R		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	48					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TGCCCCTGCGCGTGGTGAAAC	0.632000													41	62					6.2361e-21	7.43817e-21	0.257332	1	0
ALPK3	57538	broad.mit.edu	37	15	85383880	85383880	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:85383880A>C	ENST00000258888.5	+	5	2143	c.1976A>C	c.(1975-1977)gAg>gCg	p.E659A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	659					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTAGAAGCGAGGGGGTGCCT	0.647000													9	61					0	0	0.047766	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37447497	37447497	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:37447497T>A	ENST00000374660.1	+	15	1814	c.1715T>A	c.(1714-1716)aTg>aAg	p.M572K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M572K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M572K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	628						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTGAAGGACATGCAAACTTTC	0.303000													14	194					0	0	0.132662	0	0
LRIG1	26018	broad.mit.edu	37	3	66448550	66448550	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:66448550C>T	ENST00000383703.3	-	12	1965	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Silent_p.K430K			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	430	LRRCT.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTTAAGATTCTTCATCTTCA	0.403000													13	101					0	0	0.105934	0	0
C3	718	broad.mit.edu	37	19	6693443	6693443	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:6693443C>G	ENST00000245907.6	-	25	3302	c.3210G>C	c.(3208-3210)gtG>gtC	p.V1070V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1070					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGCCCGTTTCACGAAGGCCG	0.647000													3	23					0	0	0.115264	0	0
ANKRD46	157567	broad.mit.edu	37	8	101542033	101542033	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:101542033G>C	ENST00000520311.1	-	3	832	c.29C>G	c.(28-30)tCt>tGt	p.S10C	ANKRD46_ENST00000335659.3_Missense_Mutation_p.S10C|ANKRD46_ENST00000519316.1_Missense_Mutation_p.S10C|ANKRD46_ENST00000519597.1_Missense_Mutation_p.S10C|ANKRD46_ENST00000520552.1_Missense_Mutation_p.S10C	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	10						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GTTAGTCTGAGAAGAATCATT	0.413000													9	99					0	0	0.047766	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653266	121653266	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:121653266C>G	ENST00000393386.2	+	12	4577	c.4166C>G	c.(4165-4167)tCa>tGa	p.S1389*	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1389					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTGTAACCTCAACAAAGTTG	0.443000													43	121					0	0	0.257332	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607483	131607483	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:131607483G>A	ENST00000253754.3	+	6	734		c.e6-1		PDLIM4_ENST00000379018.3_Intron|PDLIM4_ENST00000484620.1_Splice_Site|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4								protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGGGTTTCAGGGGATTGGCC	0.701000													12	75					0	0	0.105934	0	0
SHOX	6473	broad.mit.edu	37	X	595435	595435	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:595435C>A	ENST00000381578.1	+	3	1051	c.360C>A	c.(358-360)agC>agA	p.S120R	SHOX_ENST00000554971.1_Missense_Mutation_p.S120R|SHOX_ENST00000334060.3_Missense_Mutation_p.S120R|SHOX_ENST00000381575.1_Missense_Mutation_p.S120R	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	120					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGGCGCAGCCGCACCAACT	0.622000													4	39					0.014758	0.0150167	0.184627	1	0
ABHD13	84945	broad.mit.edu	37	13	108882543	108882543	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:108882543A>C	ENST00000375898.3	+	2	1278	c.977A>C	c.(976-978)gAa>gCa	p.E326A		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	326						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCTCCTGAAGAAATGGCAAAA	0.348000													5	71					0	0	0.184627	0	0
IRAK4	51135	broad.mit.edu	37	12	44180517	44180517	+	Nonstop_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:44180517A>T	ENST00000431837.1	+	11	1318	c.1010A>T	c.(1009-1011)tAa>tTa	p.*337L	IRAK4_ENST00000448290.2_Nonstop_Mutation_p.*461L|IRAK4_ENST00000440781.2_Nonstop_Mutation_p.*337L|IRAK4_ENST00000551736.1_Nonstop_Mutation_p.*461L	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	0	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ACAGCTTCTTAAAACTTTATT	0.289000													17	128					0	0	0.146539	0	0
SLC22A16	85413	broad.mit.edu	37	6	110768123	110768123	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:110768123C>A	ENST00000368919.3	-	3	670	c.604G>T	c.(604-606)Gca>Tca	p.A202S	SLC22A16_ENST00000439654.1_Missense_Mutation_p.A202S|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A168S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	202					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TAATCAACTGCAAACGCCGCT	0.443000													11	78					3.86212e-05	4.1443e-05	0.069234	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563641	140563641	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140563641C>A	ENST00000361016.2	+	1	2662	c.1507C>A	c.(1507-1509)Ctg>Atg	p.L503M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGCCTCCCTGGTCTCCAT	0.677000													9	121					3.09899e-07	3.48493e-07	0.047766	1	0
EDEM2	55741	broad.mit.edu	37	20	33735010	33735010	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:33735010G>C	ENST00000374492.3	-	1	157	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.Q18E	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	18					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCATGGTGCTGAGGCAGCAGC	0.672000													4	24					0	0	0.150653	0	0
CHIA	27159	broad.mit.edu	37	1	111857957	111857957	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:111857957T>A	ENST00000369740.1	+	6	483	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	CHIA_ENST00000343320.6_Missense_Mutation_p.L127Q|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.L19Q|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	127					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ATCAAATTCCTGCGCCAGTAT	0.542000													10	175					0	0	0.069234	0	0
CADPS	8618	broad.mit.edu	37	3	62631413	62631413	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:62631413C>T	ENST00000383710.4	-	6	1658	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	CADPS_ENST00000490353.2_Missense_Mutation_p.E437K|CADPS_ENST00000283269.9_Missense_Mutation_p.E437K|CADPS_ENST00000357948.3_Missense_Mutation_p.E437K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	437	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTAGAAGCCTCGGCCTGATCA	0.453000													17	174					0	0	0.160694	0	0
C5orf42	65250	broad.mit.edu	37	5	37186440	37186440	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:37186440T>C	ENST00000274258.7	-	24	4367	c.780A>G	c.(778-780)ttA>ttG	p.L260L	C5orf42_ENST00000425232.2_Silent_p.L1379L|C5orf42_ENST00000508244.1_Silent_p.L1379L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1379										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTTGTCTCTTAAAGGAACCC	0.353000													13	149					0	0	0.132662	0	0
AGR3	155465	broad.mit.edu	37	7	16901682	16901682	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:16901682G>T	ENST00000310398.2	-	5	299	c.229C>A	c.(229-231)Cta>Ata	p.L77I	AGR3_ENST00000402239.3_Missense_Mutation_p.L77I	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	77						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ACTTTCTTTAGTGCTATAGGG	0.303000													6	63					8.12818e-05	8.66864e-05	0.248553	1	0
NXF3	56000	broad.mit.edu	37	X	102334740	102334740	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:102334740C>G	ENST00000395065.3	-	13	1212	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	NXF3_ENST00000425644.1_Missense_Mutation_p.E43Q	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	371	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAGCAGGCCTCATCGTGGTAA	0.562000													10	56					0	0	0.069234	0	0
ANK2	287	broad.mit.edu	37	4	114199662	114199662	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:114199662A>C	ENST00000357077.4	+	17	1882	c.1829A>C	c.(1828-1830)aAg>aCg	p.K610T	ANK2_ENST00000506722.1_Missense_Mutation_p.K589T|ANK2_ENST00000264366.6_Missense_Mutation_p.K610T|ANK2_ENST00000394537.3_Missense_Mutation_p.K610T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	610					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACAACCAGAAGGTGGCGCTG	0.498000											OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	59					0	0	0.080935	0	0
PRKX	5613	broad.mit.edu	37	X	3592644	3592644	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:3592644G>A	ENST00000262848.5	-	2	684	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	110	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTCACAGCCTGATGAGGAACG	0.562000													15	47					0	0	0.119110	0	0
MPND	84954	broad.mit.edu	37	19	4345878	4345878	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:4345878G>C	ENST00000599840.1	+	3	466	c.431G>C	c.(430-432)gGc>gCc	p.G144A	MPND_ENST00000359935.4_Missense_Mutation_p.G144A|MPND_ENST00000262966.8_Missense_Mutation_p.G144A			Q8N594	MPND_HUMAN	MPN domain containing	144							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCTGTGGCTGGGCCTCT	0.617000													9	84					0	0	0.047766	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905739	132905739	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:132905739C>A	ENST00000409867.1	-	6	991	c.742G>T	c.(742-744)Gct>Tct	p.A248S	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						AAGCTTTCAGCCGTGTCAGGT	0.438000													8	23					0.00448238	0.00461488	0.047766	1	0
PLEKHA4	57664	broad.mit.edu	37	19	49357480	49357480	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:49357480C>T	ENST00000263265.6	-	10	1644	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	PLEKHA4_ENST00000355496.5_Silent_p.E338E	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	363						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TTACATCTGTCTCCAAGCTTT	0.512000													16	132					0	0	0.160694	0	0
CNTN1	1272	broad.mit.edu	37	12	41408078	41408078	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:41408078G>T	ENST00000551295.2	+	18	2279	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	CNTN1_ENST00000347616.1_Missense_Mutation_p.R721I|CNTN1_ENST00000348761.2_Missense_Mutation_p.R710I|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	721	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGAAGAAACAGAGAGCTGACC	0.398000													10	66					4.84862e-15	5.75508e-15	0.080935	1	0
INSC	387755	broad.mit.edu	37	11	15134092	15134092	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:15134092C>A	ENST00000379554.3	+	1	123	c.77C>A	c.(76-78)tCc>tAc	p.S26Y		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	26					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTCCAGGAGTCCAGGAGGCTG	0.597000													15	26					2.61681e-11	3.03511e-11	0.119110	1	0
UGT2A1	10941	broad.mit.edu	37	4	70460944	70460944	+	Missense_Mutation	SNP	C	C	G	rs146912371	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:70460944C>G	ENST00000503640.1	-	4	1075	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	UGT2A1_ENST00000286604.4_Missense_Mutation_p.K340N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.K506N|UGT2A1_ENST00000512704.1_Missense_Mutation_p.K296N|UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.K349N	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	340					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGCTGGTTTCTTTCCTTTGT	0.373000													10	129					0	0	0.058154	0	0
VCAM1	7412	broad.mit.edu	37	1	101196955	101196955	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:101196955C>A	ENST00000294728.2	+	6	1507	c.1406C>A	c.(1405-1407)aCc>aAc	p.T469N	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.T377N|VCAM1_ENST00000370119.4_Missense_Mutation_p.T407N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	469	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTGGAAATGACCTTCATCCCT	0.388000													12	138					4.36969e-10	5.02989e-10	0.105934	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21422631	21422631	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:21422631G>T	ENST00000307378.6	-	16	2584	c.1864C>A	c.(1864-1866)Ctt>Att	p.L622I	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	622					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCCTCAAAAGAATTAAGATG	0.358000													15	152					2.35188e-11	2.73303e-11	0.175082	1	0
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	595					0	0	0.217242	0	0
ATP5C1	509	broad.mit.edu	37	10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	rs146307767	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	85					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358000													59	160					0	0	0.139131	0	0
UTRN	7402	broad.mit.edu	37	6	145156992	145156992	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:145156992C>T	ENST00000367545.3	+	69	9742	c.9742C>T	c.(9742-9744)Cca>Tca	p.P3248S	UTRN_ENST00000367526.4_Missense_Mutation_p.P803S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3248					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCGCAGAGCCCAGCTCAGAT	0.557000													20	149					0	0	0.139131	0	0
POLM	27434	broad.mit.edu	37	7	44119560	44119560	+	Splice_Site	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:44119560T>A	ENST00000242248.5	-	3	474		c.e3-2		POLM_ENST00000335195.6_Splice_Site|POLM_ENST00000395831.3_Splice_Site	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu						DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCCAGCCACCTGGGGATGGGC	0.642000								DNA polymerases (catalytic subunits)					3	26					0	0	0.115264	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88270124	88270124	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:88270124G>C	ENST00000357081.3	-	11	1165	c.1021C>G	c.(1021-1023)Cat>Gat	p.H341D	AGTPBP1_ENST00000376083.3_Intron|AGTPBP1_ENST00000376109.3_Intron|AGTPBP1_ENST00000337006.4_Intron|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.H179D			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	341					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AACTGGAAATGAAAAGAACTT	0.463000													5	21					0	0	0.184627	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650157	232650157	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:232650157T>A	ENST00000366630.1	-	2	1287	c.929A>T	c.(928-930)gAg>gTg	p.E310V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E310V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	310					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCCTCCAGCTCAGACGTGAA	0.453000													5	88					0	0	0.184627	0	0
FSCN1	6624	broad.mit.edu	37	7	5645021	5645021	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:5645021C>T	ENST00000382361.3	+	5	1512	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	FSCN1_ENST00000340250.6_Silent_p.G445G	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	466					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	p.G466G(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCAAGGTGGGCGGGCGCTACC	0.657000													7	47					0	0	0.248553	0	0
VPS13C	54832	broad.mit.edu	37	15	62217670	62217670	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:62217670T>A	ENST00000261517.5	-	53	6667	c.6594A>T	c.(6592-6594)aaA>aaT	p.K2198N	VPS13C_ENST00000249837.3_Missense_Mutation_p.K2155N|VPS13C_ENST00000395896.4_Missense_Mutation_p.K2198N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K2155N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2198					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTATAAATTCTTTAACCATAA	0.294000													3	28					0	0	0.150653	0	0
TRAIP	10293	broad.mit.edu	37	3	49879968	49879968	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:49879968A>G	ENST00000331456.2	-	6	534	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	141					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTCTAAGTACTTCATCTGC	0.517000													28	79					0	0	0.108266	0	0
CPN2	1370	broad.mit.edu	37	3	194061874	194061874	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:194061874T>A	ENST00000323830.3	-	2	1647	c.1558A>T	c.(1558-1560)Agt>Tgt	p.S520C	CPN2_ENST00000429275.1_Missense_Mutation_p.S520C	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	520					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CACTCCTGACTAGCATTGTAC	0.642000													6	42					0	0	0.217242	0	0
MED6	10001	broad.mit.edu	37	14	71063382	71063382	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:71063382G>C	ENST00000256379.5	-	3	249	c.220C>G	c.(220-222)Caa>Gaa	p.Q74E	MED6_ENST00000554963.1_Missense_Mutation_p.Q74E|MED6_ENST00000430055.2_Missense_Mutation_p.Q74E|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000440435.2_Missense_Mutation_p.Q74E	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	74					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		ATGGGCTCTTGAGCATGCAAA	0.383000													7	40					0	0	0.278610	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727426	66727426	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:66727426A>T	ENST00000307102.5	+	2	673	c.142A>T	c.(142-144)Aag>Tag	p.K48*		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	48					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCAGCAGCGAAAGCGCCTTGA	0.537000													17	195					0	0	0.146539	0	0
RQCD1	9125	broad.mit.edu	37	2	219449362	219449362	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:219449362A>G	ENST00000273064.6	+	4	723	c.348A>G	c.(346-348)ccA>ccG	p.P116P	RQCD1_ENST00000295701.5_Silent_p.P116P|RQCD1_ENST00000542068.1_Silent_p.P116P|RQCD1_ENST00000509807.2_Silent_p.P116P	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	116					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACACATCCCACTTTTTTTGT	0.423000													36	186					0	0	0.225048	0	0
DDX55	57696	broad.mit.edu	37	12	124097759	124097759	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:124097759C>T	ENST00000238146.4	+	8	834	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	DDX55_ENST00000538744.1_Missense_Mutation_p.L262F	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	262	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GGTCCATTTTCTTCGCAATCA	0.418000													8	97					0	0	0.047766	0	0
XIRP2	129446	broad.mit.edu	37	2	168099655	168099655	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:168099655C>G	ENST00000409195.1	+	9	1842	c.1753C>G	c.(1753-1755)Cca>Gca	p.P585A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P363A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P585A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	410					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGAATCAACCATTGGATTC	0.413000													28	74					0	0	0.134883	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596726	136596726	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:136596726T>C	ENST00000531224.1	-	6	2048	c.1796A>G	c.(1795-1797)aAa>aGa	p.K599R	BCLAF1_ENST00000530767.1_Missense_Mutation_p.K426R|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K597R|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K597R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K597R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K599R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	599					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAGTGCTTTTGCTGGCCTG	0.393000													10	245					0	0	0.080935	0	0
C1orf87	127795	broad.mit.edu	37	1	60505820	60505820	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:60505820A>G	ENST00000371201.3	-	5	623	c.516T>C	c.(514-516)aaT>aaC	p.N172N	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	172							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGCGTCTTCATTTGTTGTCC	0.438000													16	133					0	0	0.132662	0	0
LRP10	26020	broad.mit.edu	37	14	23345537	23345537	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:23345537G>A	ENST00000359591.4	+	5	2071	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	LRP10_ENST00000546834.1_Silent_p.L460L	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	460					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TCATCGCCCTGGGCTGCACCT	0.602000													6	156					0	0	0.217242	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310200	25310200	+	RNA	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:25310200A>C	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							TCCAAAAAAAACATTCCTTGG	0.468000													12	153					0	0	0.080935	0	0
ITPR2	3709	broad.mit.edu	37	12	26640097	26640097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:26640097C>A	ENST00000381340.3	-	40	5874	c.5458G>T	c.(5458-5460)Gaa>Taa	p.E1820*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1820					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATCTTATTTCTTTCTGAGCA	0.348000													10	155					0.000442599	0.000465111	0.058154	1	0
COBL	23242	broad.mit.edu	37	7	51152988	51152988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:51152988G>T	ENST00000395542.2	-	8	1230	c.1046C>A	c.(1045-1047)tCa>tAa	p.S349*	COBL_ENST00000441453.1_Nonsense_Mutation_p.S324*|COBL_ENST00000395540.2_Nonsense_Mutation_p.S324*|COBL_ENST00000265136.7_Nonsense_Mutation_p.S324*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	301	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCAATCTGTGACCCAAGAGA	0.493000													8	62					5.18039e-06	5.69937e-06	0.278610	1	0
CCDC135	84229	broad.mit.edu	37	16	57758646	57758646	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:57758646C>G	ENST00000360716.3	+	13	1878	c.1657C>G	c.(1657-1659)Caa>Gaa	p.Q553E	CCDC135_ENST00000336825.8_Missense_Mutation_p.Q488E|CCDC135_ENST00000394337.4_Missense_Mutation_p.Q553E			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	553						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGAGTACTATCAAGGACGCCC	0.562000													5	44					0	0	0.217242	0	0
SENP5	205564	broad.mit.edu	37	3	196612094	196612094	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:196612094C>T	ENST00000323460.5	+	2	291	c.42C>T	c.(40-42)caC>caT	p.H14H	SENP5_ENST00000445299.2_Silent_p.H14H|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	14					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAGGAATCCACTTAGCCTTTT	0.373000													8	87					0	0	0.278610	0	0
ATR	545	broad.mit.edu	37	3	142180913	142180913	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:142180913T>A	ENST00000350721.4	-	42	7182	c.7061A>T	c.(7060-7062)gAg>gTg	p.E2354V	ATR_ENST00000383101.3_Missense_Mutation_p.E2290V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2354	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTACGAGACTCTGCATCTTT	0.294000								Other conserved DNA damage response genes					15	182					0	0	0.146539	0	0
PCDH17	27253	broad.mit.edu	37	13	58207645	58207645	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:58207645A>T	ENST00000377918.3	+	1	991	c.965A>T	c.(964-966)cAg>cTg	p.Q322L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	322	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATTGACGTGCAGGCCCGAGAC	0.597000													29	89					0	0	0.108266	0	0
GPR35	2859	broad.mit.edu	37	2	241569531	241569531	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:241569531G>T	ENST00000319838.5	+	6	1104	c.162G>T	c.(160-162)gaG>gaT	p.E54D	GPR35_ENST00000430267.1_Missense_Mutation_p.E54D|GPR35_ENST00000407714.1_Missense_Mutation_p.E54D|GPR35_ENST00000403859.1_Missense_Mutation_p.E54D|GPR35_ENST00000438013.2_Missense_Mutation_p.E85D	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	54						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		AGTGGACGGAGACCCGCATCT	0.647000													10	64					0.000673444	0.000704659	0.069234	1	0
ITGB8	3696	broad.mit.edu	37	7	20444472	20444472	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:20444472A>G	ENST00000222573.4	+	11	2593	c.1909A>G	c.(1909-1911)Aac>Gac	p.N637D	ITGB8_ENST00000537992.1_Missense_Mutation_p.N502D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTGCAAGGAAAACTGGTATGA	0.458000													3	69					0	0	0.115264	0	0
TSPAN11	441631	broad.mit.edu	37	12	31106947	31106947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:31106947C>T	ENST00000261177.9	+	2	81	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	TSPAN11_ENST00000546076.1_Nonsense_Mutation_p.Q8*|TSPAN11_ENST00000544427.1_Intron|TSPAN11_ENST00000545802.1_Nonsense_Mutation_p.Q8*|TSPAN11_ENST00000535215.1_Intron	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	8						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TAAGACTGAGCAGGACGACTG	0.512000													7	42					0	0	0.278610	0	0
UCK2	7371	broad.mit.edu	37	1	165875181	165875181	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:165875181C>T	ENST00000367879.4	+	6	924	c.621C>T	c.(619-621)atC>atT	p.I207I	UCK2_ENST00000470820.1_Silent_p.I57I|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Silent_p.I57I|UCK2_ENST00000372212.4_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	207					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTGATGTGATCATCCCTAGAG	0.458000													11	44					0	0	0.080935	0	0
CXCR6	10663	broad.mit.edu	37	3	45988231	45988231	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:45988231C>G	ENST00000458629.1	+	1	1721	c.258C>G	c.(256-258)ttC>ttG	p.F86L	CXCR6_ENST00000457814.1_Missense_Mutation_p.F86L|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F86L|CXCR6_ENST00000438735.1_Missense_Mutation_p.F86L|FYCO1_ENST00000438446.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	86					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTCTGCCCTTCTGGGCCTATG	0.517000													24	248					0	0	0.294199	0	0
GBX2	2637	broad.mit.edu	37	2	237074756	237074756	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:237074756G>T	ENST00000306318.4	-	2	1245	c.848C>A	c.(847-849)gCc>gAc	p.A283D	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	283						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGTTTGAGGGCGTGGGCGAT	0.587000													4	105					1.23904e-05	1.34616e-05	0.184627	1	0
SLC25A28	81894	broad.mit.edu	37	10	101371022	101371022	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:101371022T>A	ENST00000370495.4	-	4	707	c.679A>T	c.(679-681)Agc>Tgc	p.S227C	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	227					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTGGTGTAGCTGCGGTAAAAG	0.532000													8	92					0	0	0.278610	0	0
OR4P4	81300	broad.mit.edu	37	11	55406720	55406720	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:55406720T>A	ENST00000314612.2	+	1	887	c.887T>A	c.(886-888)aTg>aAg	p.M296K		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAGAACGCCATGAGGAAAGTG	0.388000													15	98					0	0	0.132662	0	0
VPS11	55823	broad.mit.edu	37	11	118939921	118939921	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:118939921A>G	ENST00000300793.6	+	2	244	c.202A>G	c.(202-204)Atc>Gtc	p.I68V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	68					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGAAGGCCAGATCTGGTTCTT	0.453000													14	149					0	0	0.132662	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967783	48967783	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:48967783G>A	ENST00000391884.1	+	2	1536	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	KCNJ14_ENST00000342291.2_Missense_Mutation_p.E354K			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	354						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TCGCACTTATGAGGTCCCAGG	0.587000													21	44					0	0	0.234183	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481342	142481342	+	RNA	SNP	G	G	A	rs146962136	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:142481342G>A	ENST00000603901.1	+	0	416					NR_001296.3																						GGCACCGAGTGCCTTATCTCC	0.557000													19	14					0	0	0.175082	0	0
TCF20	6942	broad.mit.edu	37	22	42610501	42610501	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:42610501G>C	ENST00000359486.3	-	1	947	c.811C>G	c.(811-813)Cag>Gag	p.Q271E	TCF20_ENST00000335626.4_Missense_Mutation_p.Q271E	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTCATACTGAGATCCAGCA	0.453000													22	185					0	0	0.249174	0	0
MRPL1	65008	broad.mit.edu	37	4	78806487	78806487	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:78806487T>C	ENST00000315567.8	+	4	809	c.480T>C	c.(478-480)ttT>ttC	p.F160F	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	160							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TTGCTGTATTTACAGAGGTGA	0.388000													10	128					0	0	0.080935	0	0
VCPKMT	79609	broad.mit.edu	37	14	50583007	50583007	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:50583007G>T	ENST00000395860.2	-	1	268	c.264C>A	c.(262-264)ctC>ctA	p.L88L	VCPKMT_ENST00000395859.2_Silent_p.L88L	NM_024558.2	NP_078834.2			valosin containing protein lysine (K) methyltransferase	88																	GCTCTTACCCGAGGGTAGCAG	0.692000													5	23					0.014758	0.0150167	0.184627	1	0
PRAM1	84106	broad.mit.edu	37	19	8564325	8564325	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:8564325C>T	ENST00000423345.4	-	2	887	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E123K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	171	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCACTCAACTCCAGTTTGGAC	0.637000													18	172					0	0	0.189662	0	0
MPDZ	8777	broad.mit.edu	37	9	13133860	13133860	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:13133860C>T	ENST00000319217.7	-	32	4674	c.4427G>A	c.(4426-4428)aGt>aAt	p.S1476N	MPDZ_ENST00000381015.4_Missense_Mutation_p.S1476N|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1443N|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1490N|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1443N|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1476N|MPDZ_ENST00000538841.1_Missense_Mutation_p.S335N|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1476N|MPDZ_ENST00000541093.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1476					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTAAATGAACTGAGGTCCAC	0.393000													4	30					0	0	0.150653	0	0
UBE3D	90025	broad.mit.edu	37	6	83728704	83728704	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:83728704C>T	ENST00000369747.3	-	8	1120	c.998G>A	c.(997-999)aGc>aAc	p.S333N		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	333						cytoplasm	ligase activity										TTCATTCCTGCTTTTGATGCA	0.358000													12	86					0	0	0.105934	0	0
ORC3	23595	broad.mit.edu	37	6	88321886	88321886	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:88321886C>G	ENST00000392844.3	+	8	841	c.793C>G	c.(793-795)Cat>Gat	p.H265D	ORC3_ENST00000257789.4_Missense_Mutation_p.H265D|ORC3_ENST00000546266.1_Missense_Mutation_p.H122D|ORC3_ENST00000417380.2_Missense_Mutation_p.H212D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	265					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						ATTGCTTCCTCATGCAGTATC	0.378000													14	69					0	0	0.105934	0	0
SUCLG2	8801	broad.mit.edu	37	3	67570960	67570960	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:67570960C>A	ENST00000307227.5	-	5	543	c.516G>T	c.(514-516)caG>caT	p.Q172H	SUCLG2_ENST00000493112.1_Missense_Mutation_p.Q172H|SUCLG2_ENST00000492795.1_Missense_Mutation_p.Q172H	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	172	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CGACGCCCCCCTGGGGGCTGC	0.507000													16	201					1.3612e-06	1.51535e-06	0.132662	1	0
GPR142	350383	broad.mit.edu	37	17	72363846	72363846	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:72363846C>A	ENST00000335666.4	+	1	250	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	68						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AAGCTGGGACCTCCGAATAAG	0.552000													7	47					2.0095e-06	2.22689e-06	0.248553	1	0
PRB2	653247	broad.mit.edu	37	12	11546301	11546301	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:11546301A>T	ENST00000389362.4	-	3	746	c.711T>A	c.(709-711)tcT>tcA	p.S237S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATCGGGCAC	0.612000													65	312					0	0	0.139131	0	0
TRAF3	7187	broad.mit.edu	37	14	103372111	103372111	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:103372111C>G	ENST00000560371.1	+	11	1914	c.1697C>G	c.(1696-1698)cCc>cGc	p.P566R	TRAF3_ENST00000539721.1_Missense_Mutation_p.P483R|TRAF3_ENST00000392745.2_Missense_Mutation_p.P566R|TRAF3_ENST00000351691.5_Missense_Mutation_p.P541R|TRAF3_ENST00000347662.4_Missense_Mutation_p.P541R	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	566					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TCGGATCTGCCCGATCCCTGA	0.463000													8	40					0	0	0.278610	0	0
ZNF529	57711	broad.mit.edu	37	19	37038677	37038677	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:37038677C>A	ENST00000334116.7	-	6	1078	c.468G>T	c.(466-468)agG>agT	p.R156S	ZNF529_ENST00000591340.1_Missense_Mutation_p.R261S	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTTCAAAGGTCCTTCTGTATT	0.323000													10	194					1.08611e-07	1.22589e-07	0.080935	1	0
CUL2	8453	broad.mit.edu	37	10	35318557	35318557	+	Silent	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:35318557A>C	ENST00000374748.1	-	16	1711	c.1398T>G	c.(1396-1398)ggT>ggG	p.G466G	CUL2_ENST00000374749.3_Silent_p.G466G|CUL2_ENST00000374751.3_Silent_p.G466G|CUL2_ENST00000374746.1_Silent_p.G466G|CUL2_ENST00000537177.1_Silent_p.G485G|CUL2_ENST00000602371.1_Silent_p.G409G|CUL2_ENST00000374742.1_Silent_p.G466G			Q13617	CUL2_HUMAN	cullin 2	466					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TAAACTCATAACCACAGGCTT	0.323000													4	45					0	0	0.184627	0	0
TXNDC5	81567	broad.mit.edu	37	6	7884684	7884684	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:7884684C>T	ENST00000539054.1	-	9	867	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000379757.4_Missense_Mutation_p.E362K|TXNDC5_ENST00000473453.1_Missense_Mutation_p.E254K			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTAGAGAGTTCCTCCCAAGTA	0.498000													15	54					0	0	0.119110	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967307	41967307	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:41967307G>A	ENST00000298919.7	+	10	2334	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R909Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R651Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	909							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTGCGAGACCGAATCCTGAAG	0.522000													5	123					0	0	0.184627	0	0
SP1	6667	broad.mit.edu	37	12	53803167	53803167	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:53803167A>G	ENST00000426431.2	+	5	1905	c.1845A>G	c.(1843-1845)aaA>aaG	p.K615K	SP1_ENST00000327443.4_Silent_p.K622K	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	622					positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCCTGGCAAAAAGAAACAGC	0.488000													9	32					0	0	0.047766	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149598	193149598	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:193149598A>C	ENST00000367434.4	-	2	1850	c.1095T>G	c.(1093-1095)aaT>aaG	p.N365K	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	365					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CTCGCCAGTGATTGAACACAA	0.433000													26	77					0	0	0.294199	0	0
ASTL	431705	broad.mit.edu	37	2	96795665	96795665	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:96795665T>A	ENST00000342380.2	-	8	771	c.772A>T	c.(772-774)Agt>Tgt	p.S258C		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	258					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATGTGGACACTGGGGGCCCAA	0.672000													6	72					0	0	0.217242	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766365	56766365	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:56766365G>T	ENST00000413728.2	-	9	1690	c.1147C>A	c.(1147-1149)Cag>Aag	p.Q383K	ARHGEF3_ENST00000495373.1_Missense_Mutation_p.Q377K|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.Q348K|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.Q383K|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.Q377K|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.Q409K	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	377	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGGATTGGCTGACGGTACAGC	0.522000													16	198					1.02788e-11	1.1956e-11	0.160694	1	0
PDSS2	57107	broad.mit.edu	37	6	107533322	107533322	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:107533322C>G	ENST00000369037.4	-	5	1144	c.867G>C	c.(865-867)atG>atC	p.M289I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	289					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CCTTATGACTCATGGCCATGT	0.388000													26	703					0	0	0.125774	0	0
TTN	7273	broad.mit.edu	37	2	179611799	179611799	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179611799G>A	ENST00000360870.5	-	46	15550	c.15328C>T	c.(15328-15330)Cca>Tca	p.P5110S	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1218	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTCCCCTGGGGGTGTGGAA	0.493000													27	114					0	0	0.125774	0	0
ASXL1	171023	broad.mit.edu	37	20	31016181	31016181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:31016181C>T	ENST00000375687.4	+	6	851	c.427C>T	c.(427-429)Cga>Tga	p.R143*	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R138*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	143					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATCTCAGAGTCGACCTCTTTC	0.478000			"""F, N, Mis"""		"""MDS, CMML"""								21	230					0	0	0.219247	0	0
PHF3	23469	broad.mit.edu	37	6	64394133	64394133	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:64394133A>T	ENST00000262043.3	+	4	850	c.510A>T	c.(508-510)aaA>aaT	p.K170N	PHF3_ENST00000393387.1_Missense_Mutation_p.K170N|PHF3_ENST00000509330.1_Missense_Mutation_p.K170N			Q92576	PHF3_HUMAN	PHD finger protein 3	170					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTACTGCTAAAGCAGGAGTGA	0.408000													23	193					0	0	0.234183	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32211019	32211019	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:32211019C>G	ENST00000492345.1	+	7	1234	c.549C>G	c.(547-549)ctC>ctG	p.L183L	CBFA2T2_ENST00000346541.3_Silent_p.L212L|CBFA2T2_ENST00000397798.2_Silent_p.L183L|CBFA2T2_ENST00000342704.6_Silent_p.L203L|CBFA2T2_ENST00000344201.3_Silent_p.L183L|CBFA2T2_ENST00000375279.2_Silent_p.L212L|CBFA2T2_ENST00000397800.1_Silent_p.L183L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.L222L			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	212	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ACCTTCTGCTCAACACAAGCA	0.602000													11	137					0	0	0.093190	0	0
CNGA1	1259	broad.mit.edu	37	4	47944083	47944083	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:47944083A>C	ENST00000402813.3	-	8	881	c.739T>G	c.(739-741)Tac>Gac	p.Y247D	CNGA1_ENST00000358519.4_Missense_Mutation_p.Y178D|CNGA1_ENST00000544810.1_Missense_Mutation_p.Y178D|CNGA1_ENST00000420489.2_Missense_Mutation_p.Y178D|CNGA1_ENST00000514170.1_Missense_Mutation_p.Y178D			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	178					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTCCAGTTGTACATAACAGGT	0.363000													5	73					0	0	0.184627	0	0
SCN5A	6331	broad.mit.edu	37	3	38597162	38597162	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:38597162G>A	ENST00000413689.1	-	26	4720	c.4527C>T	c.(4525-4527)ccC>ccT	p.P1509P	SCN5A_ENST00000333535.4_Silent_p.P1509P|SCN5A_ENST00000450102.2_Silent_p.P1455P|SCN5A_ENST00000414099.2_Silent_p.P1491P|SCN5A_ENST00000425664.1_Silent_p.P1491P|SCN5A_ENST00000449557.2_Silent_p.P1455P|SCN5A_ENST00000451551.2_Silent_p.P1455P|SCN5A_ENST00000443581.1_Silent_p.P1508P|SCN5A_ENST00000423572.2_Silent_p.P1508P|SCN5A_ENST00000455624.2_Silent_p.P1508P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1509			Missing (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCGTGGGATGGGCTTCTGGG	0.577000													11	102					0	0	0.080935	0	0
MYH6	4624	broad.mit.edu	37	14	23856977	23856977	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:23856977C>T	ENST00000405093.3	-	31	4585	c.4515G>A	c.(4513-4515)aaG>aaA	p.K1505K	MYH6_ENST00000356287.3_Silent_p.K1505K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1505					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGAAGGTTCTTGTTCTCCC	0.592000													11	211					0	0	0.119110	0	0
PRX	57716	broad.mit.edu	37	19	40901180	40901180	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:40901180C>T	ENST00000324001.7	-	7	3349	c.3079G>A	c.(3079-3081)Ggg>Agg	p.G1027R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1027					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCTGACCCCAAACTTGGGG	0.642000													24	103					0	0	0.279207	0	0
LST3	0	broad.mit.edu	37	12	21196458	21196458	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:21196458T>A	ENST00000381541.3	+	7	983	c.918T>A	c.(916-918)aaT>aaA	p.N306K	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N306K|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.N259K|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron																							ATAAAAGGAATCAAATAGCTA	0.294000													15	54					0	0	0.119110	0	0
SYNE1	23345	broad.mit.edu	37	6	152832191	152832191	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:152832191G>T	ENST00000367255.5	-	7	958	c.357C>A	c.(355-357)ccC>ccA	p.P119P	SYNE1_ENST00000423061.1_Silent_p.P126P|SYNE1_ENST00000448038.1_Silent_p.P126P|SYNE1_ENST00000413186.2_Silent_p.P119P|SYNE1_ENST00000367248.3_Silent_p.P126P|SYNE1_ENST00000265368.4_Silent_p.P119P|SYNE1_ENST00000341594.5_Silent_p.P119P|SYNE1_ENST00000367253.4_Silent_p.P119P|SYNE1_ENST00000466159.2_Silent_p.P119P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	119	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTATTGAGGGTCGGCCAT	0.358000										HNSCC(10;0.0054)			23	170					7.87624e-14	9.28544e-14	0.264190	1	0
MCF2L2	23101	broad.mit.edu	37	3	182913023	182913023	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:182913023C>G	ENST00000328913.3	-	26	3202	c.2905G>C	c.(2905-2907)Gaa>Caa	p.E969Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E969Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	969					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTGCTCATTTCAAACTGTGGA	0.289000													25	213					0	0	0.108266	0	0
RAB25	57111	broad.mit.edu	37	1	156035796	156035796	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:156035796G>A	ENST00000361084.5	+	2	379	c.138G>A	c.(136-138)ggG>ggA	p.G46G	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	46					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCACCATCGGGGTTGAGTTCT	0.602000													8	62					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179441669	179441669	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179441669G>A	ENST00000589042.1	-	324	69617	c.69393C>T	c.(69391-69393)gtC>gtT	p.V23131V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V20563V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.V14191V|TTN_ENST00000460472.2_Silent_p.V14066V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V14258V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.V21490V|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21490	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACCATTTTGACAGGTTCAG	0.403000													19	240					0	0	0.189662	0	0
DCN	1634	broad.mit.edu	37	12	91572325	91572325	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:91572325T>C	ENST00000551354.1	-	2	209	c.5A>G	c.(4-6)aAg>aGg	p.K2R	DCN_ENST00000550099.1_Missense_Mutation_p.K2R|DCN_ENST00000546370.1_Missense_Mutation_p.K2R|DCN_ENST00000420120.2_Missense_Mutation_p.K2R|DCN_ENST00000547568.2_Missense_Mutation_p.K2R|DCN_ENST00000546745.1_Missense_Mutation_p.K2R|DCN_ENST00000425043.1_Missense_Mutation_p.K2R|DCN_ENST00000441303.2_Missense_Mutation_p.K2R|DCN_ENST00000303320.3_Missense_Mutation_p.K2R|DCN_ENST00000552962.1_Missense_Mutation_p.K2R|DCN_ENST00000456569.2_Missense_Mutation_p.K2R|DCN_ENST00000052754.5_Missense_Mutation_p.K2R|DCN_ENST00000393155.1_Missense_Mutation_p.K2R|DCN_ENST00000228329.5_Missense_Mutation_p.K2R			P07585	PGS2_HUMAN	decorin	2					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GATAGTGGCCTTCATGATTTA	0.423000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	60					0	0	0.047766	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36008770	36008770	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:36008770G>A	ENST00000307138.6	-	40	6698	c.6230C>T	c.(6229-6231)tCt>tTt	p.S2077F	RALGAPA1_ENST00000258840.6_3'UTR|RALGAPA1_ENST00000389698.3_3'UTR	NM_194301.2	NP_919277.2	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	0					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCTGAGCCAGAGGAACGACG	0.532000													35	44					0	0	0.203993	0	0
NCAM2	4685	broad.mit.edu	37	21	22804442	22804442	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:22804442C>T	ENST00000400546.1	+	12	1744	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	NCAM2_ENST00000284894.7_Missense_Mutation_p.P357S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	499	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCATCCAGTCCCTATGGAGT	0.448000													8	61					0	0	0.278610	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497252	39497252	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:39497252A>G	ENST00000442487.3	+	3	288	c.161A>G	c.(160-162)cAt>cGt	p.H54R	APOBEC3H_ENST00000421988.2_Missense_Mutation_p.H54R|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.H54R|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.H54R	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	54					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					AAAAAGTGCCATGCAGAAATT	0.587000													8	38					0	0	0.278610	0	0
CXorf57	55086	broad.mit.edu	37	X	105855501	105855501	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:105855501C>T	ENST00000372548.4	+	1	300	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CXorf57_ENST00000372544.2_Missense_Mutation_p.S64L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	64										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GTCACCCCCTCGGAGGTGGTG	0.582000													19	76					0	0	0.175082	0	0
NLRP9	338321	broad.mit.edu	37	19	56228212	56228212	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:56228212G>C	ENST00000332836.2	-	5	2239	c.2212C>G	c.(2212-2214)Ctg>Gtg	p.L738V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	738						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTGCAGGCCAGGACGGAGGCG	0.502000													4	85					0	0	0.217242	0	0
IL36A	27179	broad.mit.edu	37	2	113763613	113763613	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:113763613C>T	ENST00000259211.6	+	2	484	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	25					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GGTGTGGGTTCTTCAGGACCA	0.488000													12	127					0	0	0.119110	0	0
PCDH15	65217	broad.mit.edu	37	10	55569097	55569097	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:55569097C>T	ENST00000395445.1	-	36	5107	c.4713G>A	c.(4711-4713)caG>caA	p.Q1571Q	PCDH15_ENST00000395440.1_Silent_p.Q505Q|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.Q436Q|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Silent_p.Q767Q	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAAGGCGTCTCTGCCACTCTT	0.433000										HNSCC(58;0.16)			10	82					0	0	0.069234	0	0
GRM7	2917	broad.mit.edu	37	3	7620569	7620569	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:7620569G>A	ENST00000486284.1	+	8	2250	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	GRM7_ENST00000402647.2_Missense_Mutation_p.R659Q|GRM7_ENST00000389336.4_Missense_Mutation_p.R659Q|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.R659Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R659Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	659					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCTTTCCGGCGAGTTTTCTTG	0.448000													8	190					0	0	0.047766	0	0
CAMK4	814	broad.mit.edu	37	5	110560256	110560256	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:110560256C>G	ENST00000282356.4	+	1	473	c.75C>G	c.(73-75)acC>acG	p.T25T	CAMK4_ENST00000512453.1_Silent_p.T25T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	25					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CCCCGGGGACCGCGAGCCTCG	0.672000													6	17					0	0	0.217242	0	0
TYR	7299	broad.mit.edu	37	11	88924455	88924455	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:88924455G>A	ENST00000263321.5	+	2	1407	c.905G>A	c.(904-906)gGa>gAa	p.G302E	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	302					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGTAATCCTGGAAACCATGAC	0.473000													49	123					0	0	0.139131	0	0
TRPV6	55503	broad.mit.edu	37	7	142574200	142574200	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:142574200G>C	ENST00000359396.3	-	6	968	c.723C>G	c.(721-723)ctC>ctG	p.L241L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	241					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGAAAGGGGTGAGACCCTGGT	0.572000													5	42					0	0	0.184627	0	0
FAM86B2	653333	broad.mit.edu	37	8	12287885	12287885	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:12287885T>G	ENST00000262365.4	-	4	315	c.316A>C	c.(316-318)Acc>Ccc	p.T106P	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	106										endometrium(1)|kidney(2)	3						TGGCCCTGGGTGGACTCCTTG	0.587000													5	40					0	0	0.217242	0	0
ROBO2	6092	broad.mit.edu	37	3	77600136	77600136	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:77600136T>A	ENST00000461745.1	+	8	2127	c.1227T>A	c.(1225-1227)acT>acA	p.T409T	ROBO2_ENST00000487694.3_Silent_p.T425T|ROBO2_ENST00000332191.8_Silent_p.T409T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	409	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGAGGTTACTGATGGTGCGA	0.383000													5	71					0	0	0.184627	0	0
TMEM201	199953	broad.mit.edu	37	1	9662268	9662268	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:9662268T>C	ENST00000340305.5	+	6	1107	c.1098T>C	c.(1096-1098)gtT>gtC	p.V366V	TMEM201_ENST00000377376.4_Silent_p.V366V|TMEM201_ENST00000340381.6_Silent_p.V366V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	366						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGCCTGGTTGGCTTCACGG	0.652000													5	47					0	0	0.184627	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072638	17072638	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:17072638G>C	ENST00000359963.3	-	1	1062	c.803C>G	c.(802-804)gCt>gGt	p.A268G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	268					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTAAATTGAGCTAGATCAGC	0.517000													11	133					0	0	0.069234	0	0
PANX3	116337	broad.mit.edu	37	11	124489537	124489537	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:124489537T>C	ENST00000284288.2	+	4	952	c.885T>C	c.(883-885)tgT>tgC	p.C295C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	295					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CACGGCTATGTCGGTGGGACA	0.443000													6	102					0	0	0.248553	0	0
TTN	7273	broad.mit.edu	37	2	179666962	179666962	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179666962C>A	ENST00000589042.1	-	3	422	c.198G>T	c.(196-198)acG>acT	p.T66T	TTN_ENST00000360870.5_Silent_p.T66T|TTN_ENST00000342992.6_Silent_p.T66T|TTN_ENST00000359218.5_Silent_p.T66T|TTN_ENST00000460472.2_Silent_p.T66T|TTN_ENST00000342175.6_Silent_p.T66T|TTN_ENST00000591111.1_Silent_p.T66T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	66	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGCGGGGATCGTCAGTTTAG	0.542000													9	105					1.12685e-05	1.23085e-05	0.047766	1	0
KIDINS220	57498	broad.mit.edu	37	2	8967212	8967212	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:8967212C>G	ENST00000256707.3	-	2	193	c.12G>C	c.(10-12)ttG>ttC	p.L4F	KIDINS220_ENST00000418530.1_5'UTR|KIDINS220_ENST00000427284.1_Missense_Mutation_p.L4F|KIDINS220_ENST00000319688.5_Missense_Mutation_p.L4F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.L4F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	4					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTGTGATATCAAAACTGACA	0.289000													4	37					0	0	0.150653	0	0
MIB1	57534	broad.mit.edu	37	18	19429163	19429163	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:19429163A>G	ENST00000261537.6	+	17	2664	c.2400A>G	c.(2398-2400)caA>caG	p.Q800Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	800					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TTAGTGGTCAAGTGGGTTCTC	0.323000													45	233					0	0	0.139131	0	0
CEACAM21	90273	broad.mit.edu	37	19	42082648	42082648	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:42082648C>T	ENST00000187608.9	+	1	62	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000407170.2_Intron|CEACAM21_ENST00000401445.2_Missense_Mutation_p.P8S	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	8						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CTCAGCTTGTCCCCACAGAGA	0.637000													7	69					0	0	0.278610	0	0
TECTA	7007	broad.mit.edu	37	11	120976571	120976571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:120976571G>A	ENST00000392793.1	+	3	367	c.96G>A	c.(94-96)tgG>tgA	p.W32*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.W32*			O75443	TECTA_HUMAN	tectorin alpha	32					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCCATTTTGGCAGAATGACA	0.473000													14	93					0	0	0.119110	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644906	54644906	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:54644906C>G	ENST00000419823.2	-	6	884	c.660G>C	c.(658-660)aaG>aaC	p.K220N	CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.K220N|CYB5RL_ENST00000542737.1_Missense_Mutation_p.K220N|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000401046.3_Missense_Mutation_p.K72N	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	220							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCTCAAAGGTCTTGAAGCAAC	0.552000													3	27					0	0	0.115264	0	0
TCF20	6942	broad.mit.edu	37	22	42608068	42608068	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:42608068G>T	ENST00000359486.3	-	1	3380	c.3244C>A	c.(3244-3246)Cag>Aag	p.Q1082K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q1082K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1082					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAATGCAGCTGAGAATTCAAA	0.493000													6	63					5.9392e-07	6.66043e-07	0.217242	1	0
PHACTR1	221692	broad.mit.edu	37	6	13206080	13206080	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:13206080C>T	ENST00000379350.1	+	7	827	c.698C>T	c.(697-699)cCa>cTa	p.P233L	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P88L|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P233L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	233						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCTTGTCTGCCAGTGAAACTG	0.557000													13	68					0	0	0.132662	0	0
FBXL3	26224	broad.mit.edu	37	13	77589587	77589587	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:77589587G>C	ENST00000355619.5	-	4	924	c.600C>G	c.(598-600)ctC>ctG	p.L200L	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	200					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCAACAGCTTGAGTGTATCAC	0.388000													17	164					0	0	0.146539	0	0
KIF16B	55614	broad.mit.edu	37	20	16360093	16360093	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:16360093T>C	ENST00000354981.2	-	19	2711	c.2554A>G	c.(2554-2556)Aaa>Gaa	p.K852E	KIF16B_ENST00000408042.1_Missense_Mutation_p.K852E|KIF16B_ENST00000378003.2_Missense_Mutation_p.K78E|KIF16B_ENST00000355755.3_Missense_Mutation_p.K852E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	852	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGGACTTCTTTTTTCAGGATG	0.403000													21	181					0	0	0.249174	0	0
ATP7B	540	broad.mit.edu	37	13	52515306	52515306	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:52515306C>T	ENST00000242839.4	-	16	3623	c.3467G>A	c.(3466-3468)cGc>cAc	p.R1156H	ATP7B_ENST00000344297.5_Missense_Mutation_p.R949H|ATP7B_ENST00000400370.3_Missense_Mutation_p.R726H|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.R367H|ATP7B_ENST00000418097.2_Missense_Mutation_p.R1091H|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1045H|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1078H	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1156					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.R1156H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TAAACCGTTGCGCCTCAGCCA	0.483000									Wilson disease				7	79					0	0	0.278610	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573632	140573632	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140573632C>A	ENST00000239446.4	+	1	1691	c.1507C>A	c.(1507-1509)Ctg>Atg	p.L503M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L503M(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGCCTCCCTGGTCTCCAT	0.682000													42	368					4.86159e-25	5.8387e-25	0.139131	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38175525	38175525	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:38175525G>C	ENST00000316985.3	-	10	2404	c.1887C>G	c.(1885-1887)gtC>gtG	p.V629V	WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000317025.8_Intron|WHSC1L1_ENST00000527502.1_Intron	NM_017778.2	NP_060248.2	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	0					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CACTGAATCTGACAGAGCCCT	0.532000			T	NUP98	AML								6	57					0	0	0.047766	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31819499	31819499	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:31819499G>A	ENST00000373714.1	+	6	591	c.330G>A	c.(328-330)agG>agA	p.R110R	ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000546109.1_Silent_p.R102R|ZCCHC17_ENST00000422613.2_Silent_p.R86R|ZCCHC17_ENST00000344147.5_Silent_p.R110R|RP11-266K22.2_ENST00000430143.1_RNA	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	110	Poly-Arg.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AAGAAGAGAGGCGGAGGCGAT	0.478000													9	89					0	0	0.047766	0	0
OR7D4	125958	broad.mit.edu	37	19	9324715	9324715	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9324715A>G	ENST00000308682.2	-	1	827	c.799T>C	c.(799-801)Tct>Cct	p.S267P		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTCTGGGAAGAATGGGTCACA	0.537000													12	88					0	0	0.080935	0	0
OR8A1	390275	broad.mit.edu	37	11	124440496	124440496	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:124440496G>C	ENST00000284287.3	+	1	604	c.532G>C	c.(532-534)Ggc>Cgc	p.G178R		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G178C(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AATAGAAACTGGCCTCATGTT	0.493000													7	89					0	0	0.047766	0	0
NWD1	284434	broad.mit.edu	37	19	16910728	16910728	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:16910728T>C	ENST00000524140.2	+	17	3909	c.3491T>C	c.(3490-3492)cTg>cCg	p.L1164P	NWD1_ENST00000379808.3_Missense_Mutation_p.L1164P|NWD1_ENST00000552788.1_Missense_Mutation_p.L1164P|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000339803.6_Missense_Mutation_p.L1029P|NWD1_ENST00000523826.1_Missense_Mutation_p.L958P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1164							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGACCCTTCTGGACATCCTG	0.582000													5	67					0	0	0.184627	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952810	33952810	+	RNA	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:33952810G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCTGGGAGCCGCCCAGCTCCA	0.612000													21	46					0	0	0.234183	0	0
GAB4	128954	broad.mit.edu	37	22	17472831	17472831	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:17472831C>G	ENST00000400588.1	-	2	517	c.410G>C	c.(409-411)aGg>aCg	p.R137T	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	137	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CATGTCCTCCCTGGTCTCAGC	0.507000													23	296					0	0	0.249174	0	0
DGKA	1606	broad.mit.edu	37	12	56336046	56336046	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:56336046A>G	ENST00000331886.5	+	17	1879	c.1425A>G	c.(1423-1425)ggA>ggG	p.G475G	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Splice_Site_p.G475G|DGKA_ENST00000551156.1_Splice_Site_p.G475G	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	475	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GATGGGGAGGAGGTAAGTGGT	0.488000													10	64					0	0	0.058154	0	0
DCDC1	341019	broad.mit.edu	37	11	31327782	31327782	+	Silent	SNP	G	G	A	rs148686927	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:31327782G>A	ENST00000597505.1	-	3	587	c.588C>T	c.(586-588)acC>acT	p.T196T	DCDC1_ENST00000452803.1_Silent_p.T196T|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	196	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TAGTTACCAAGGTGATGGTTG	0.303000													7	101					0	0	0.047766	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819215	159819215	+	RNA	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:159819215A>T	ENST00000497452.1	-	0	517																											CAGTCCATAGAAGAACTAAAG	0.343000													16	197					0	0	0.160694	0	0
MOCOS	55034	broad.mit.edu	37	18	33795908	33795908	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:33795908C>G	ENST00000261326.5	+	8	1786	c.1765C>G	c.(1765-1767)Ctc>Gtc	p.L589V		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	589					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TAACCTTTATCTCTATCCAAT	0.463000													8	60					0	0	0.047766	0	0
LRRC42	115353	broad.mit.edu	37	1	54426041	54426041	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:54426041C>G	ENST00000371370.3	+	5	1139	c.618C>G	c.(616-618)ctC>ctG	p.L206L	LRRC42_ENST00000319223.4_Silent_p.L206L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	206										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TAACTCAGCTCCACCTGAAGG	0.368000													12	109					0	0	0.105934	0	0
LIMD1	8994	broad.mit.edu	37	3	45714197	45714197	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:45714197G>T	ENST00000273317.4	+	5	1678	c.1657G>T	c.(1657-1659)Ggg>Tgg	p.G553W	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Missense_Mutation_p.G553W	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	553	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCAAGCCCTGGGGAAGTCCTA	0.532000													13	112					9.31168e-06	1.02077e-05	0.105934	1	0
ANKAR	150709	broad.mit.edu	37	2	190569949	190569949	+	Splice_Site	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:190569949G>C	ENST00000520309.1	+	8	1997	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	ANKAR_ENST00000431575.2_Splice_Site_p.E566Q|ANKAR_ENST00000313581.4_Splice_Site_p.E637Q|ANKAR_ENST00000438402.2_Splice_Site_p.E637Q|ANKAR_ENST00000281412.6_Splice_Site_p.E401Q	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	637						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GGCAACAGCTGAGTAAGTCAT	0.353000													43	133					0	0	0.131918	0	0
QRFPR	84109	broad.mit.edu	37	4	122250557	122250557	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:122250557T>G	ENST00000394427.2	-	6	1619	c.1208A>C	c.(1207-1209)cAg>cCg	p.Q403P	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	403						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTCCTCTGTCTGTTCACACAA	0.408000													23	191					0	0	0.264190	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881919	30881919	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:30881919C>T	ENST00000251071.5	-	8	2195	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.G482E|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.G149E|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.G482E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.G482E	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	482					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGAACATACCCTGCTTTGGA	0.473000													13	236					0	0	0.093190	0	0
PPP4R2	151987	broad.mit.edu	37	3	73096400	73096400	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:73096400C>T	ENST00000356692.5	+	3	433	c.180C>T	c.(178-180)ttC>ttT	p.F60F	PPP4R2_ENST00000295862.9_Silent_p.F4F|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	60					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TGGATGATTTCAGAACTTCAG	0.343000													4	37					0	0	0.150653	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474372	43474372	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:43474372C>G	ENST00000532038.1	-	10	1330	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.E253Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.E621Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.E280Q|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.E280Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E599Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E594Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	621					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCGCTCTCCTCTGGGGGCAGC	0.642000													14	59					0	0	0.119110	0	0
SLC20A1	6574	broad.mit.edu	37	2	113414772	113414772	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:113414772T>C	ENST00000272542.3	+	6	1271	c.732T>C	c.(730-732)ctT>ctC	p.L244L	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	244					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTGTGCCCTTATCGTCTGGT	0.398000													9	94					0	0	0.058154	0	0
DZIP3	9666	broad.mit.edu	37	3	108363414	108363414	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:108363414G>T	ENST00000361582.3	+	14	1775	c.1545G>T	c.(1543-1545)gaG>gaT	p.E515D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E515D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	515					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCCTTAGTGAGATTTTGATGA	0.408000													12	201					0.0135373	0.0138092	0.093190	1	0
COL16A1	1307	broad.mit.edu	37	1	32120952	32120952	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:32120952G>A	ENST00000373672.3	-	67	4769	c.4253C>T	c.(4252-4254)tCg>tTg	p.S1418L	RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1418L|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1418	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGGCTCCCCGAAGGCCCCGG	0.682000													18	99					0	0	0.160694	0	0
BTNL8	79908	broad.mit.edu	37	5	180338579	180338579	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:180338579T>G	ENST00000231229.4	+	3	872	c.638T>G	c.(637-639)cTg>cGg	p.L213R	BTNL8_ENST00000340184.4_Missense_Mutation_p.L213R|BTNL8_ENST00000511704.1_Missense_Mutation_p.L97R|BTNL8_ENST00000508408.1_Missense_Mutation_p.L213R|BTNL8_ENST00000533815.2_Missense_Mutation_p.L29R|BTNL8_ENST00000400707.3_Missense_Mutation_p.L88R|BTNL8_ENST00000505126.1_Missense_Mutation_p.L6R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	213	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGCTCATCTGAGCCGAGAG	0.552000													15	74					0	0	0.132662	0	0
ABCA12	26154	broad.mit.edu	37	2	215855442	215855442	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:215855442A>T	ENST00000272895.7	-	24	3827	c.3608T>A	c.(3607-3609)gTa>gAa	p.V1203E	ABCA12_ENST00000389661.4_Missense_Mutation_p.V885E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1203					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CACTTTCAATACATAGCTCAA	0.388000													10	78					0	0	0.069234	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950266	110950266	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:110950266C>G	ENST00000256644.4	-	1	298	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000602318.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		CACTCCGGCTCAGAACCCAGC	0.647000													10	79					0	0	0.069234	0	0
OPN1LW	5956	broad.mit.edu	37	X	153418477	153418477	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:153418477C>A	ENST00000369951.4	+	3	534	c.474C>A	c.(472-474)ccC>ccA	p.P158P	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	158					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTGCAAGCCCTTTGGCAATG	0.567000													8	118					5.4927e-09	6.28106e-09	0.047766	1	0
DENR	8562	broad.mit.edu	37	12	123238274	123238274	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:123238274G>T	ENST00000280557.6	+	2	212	c.26G>T	c.(25-27)aGc>aTc	p.S9I	DENR_ENST00000455982.2_Missense_Mutation_p.S9I	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	9							protein binding|translation initiation factor activity			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		TCTGAATCCAGCGGGGCTGAC	0.478000													5	35					0.0215528	0.0218758	0.217242	1	0
KCTD21	283219	broad.mit.edu	37	11	77885068	77885068	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:77885068A>G	ENST00000340067.3	-	2	811	c.533T>C	c.(532-534)tTg>tCg	p.L178S	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	178						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGGGTCCTGCAAGTGGCTGGT	0.572000													21	161					0	0	0.249174	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980927	67980927	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:67980927G>C	ENST00000422611.2	-	16	2199	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	SLC12A4_ENST00000541864.2_Silent_p.L687L|SLC12A4_ENST00000338335.3_Silent_p.L718L|SLC12A4_ENST00000537830.2_Silent_p.L712L|SLC12A4_ENST00000316341.3_Silent_p.L718L|SLC12A4_ENST00000576616.1_Silent_p.L718L|SLC12A4_ENST00000572037.1_Silent_p.L670L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	718					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCAGCCTTGAGCTGGGAGG	0.642000													6	33					0	0	0.217242	0	0
FAM134B	54463	broad.mit.edu	37	5	16475052	16475052	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:16475052C>G	ENST00000306320.9	-	9	1378	c.1292G>C	c.(1291-1293)gGt>gCt	p.G431A	FAM134B_ENST00000399793.2_Missense_Mutation_p.G290A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	431					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TTGCTGCACACCCTCTAACTG	0.507000													4	154					0	0	0.150653	0	0
SPEF2	79925	broad.mit.edu	37	5	35740312	35740312	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:35740312T>C	ENST00000440995.2	+	23	3258	c.3258T>C	c.(3256-3258)ctT>ctC	p.L1086L	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.L1091L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1091					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACTCCCTTCCTGATGACC	0.433000													47	197					0	0	0.290176	0	0
HSPA5	3309	broad.mit.edu	37	9	128001351	128001351	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:128001351G>A	ENST00000324460.6	-	5	1068	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	289					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ACCTCGCGCCGGAGTTTCTGC	0.458000										Prostate(1;0.17)			9	103					0	0	0.047766	0	0
EREG	2069	broad.mit.edu	37	4	75248368	75248368	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:75248368A>G	ENST00000244869.2	+	4	451	c.285A>G	c.(283-285)gaA>gaG	p.E95E	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	95	EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCAGGTGTGAAGTGGGTTATA	0.348000													8	142					0	0	0.278610	0	0
DCBLD2	131566	broad.mit.edu	37	3	98526975	98526975	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:98526975G>T	ENST00000326840.6	-	13	1982	c.1620C>A	c.(1618-1620)gtC>gtA	p.V540V	DCBLD2_ENST00000326857.9_Silent_p.V540V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	540					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGTAGTGAGGACCATGACCA	0.423000													3	25					0.004672	0.00479795	0.115264	1	0
LMX1A	4009	broad.mit.edu	37	1	165173199	165173199	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:165173199G>C	ENST00000342310.3	-	9	1449	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*	LMX1A_ENST00000367893.4_Nonsense_Mutation_p.S356*|LMX1A_ENST00000294816.2_Nonsense_Mutation_p.S356*|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	356						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S356*(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCAGCTTCTGAGGTTGCTAG	0.507000													24	72					0	0	0.099896	0	0
AFM	173	broad.mit.edu	37	4	74352710	74352710	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:74352710A>T	ENST00000226355.3	+	5	602	c.509A>T	c.(508-510)aAc>aTc	p.N170I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	170	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGAAGGAACCCATTTGTC	0.393000													13	216					0	0	0.119110	0	0
ADRA1D	146	broad.mit.edu	37	20	4228879	4228879	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:4228879G>A	ENST00000379453.4	-	1	842	c.726C>T	c.(724-726)gaC>gaT	p.D242D		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	242					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	AGAAGCGCTCGTCAGGGGGCA	0.677000													3	8					0	0	0.115264	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200837	67200837	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:67200837G>A	ENST00000312629.5	+	10	870	c.825G>A	c.(823-825)aaG>aaA	p.K275K	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	275	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGAACCGGAAGAAAACCATGG	0.627000													14	148					0	0	0.119110	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503214	110503214	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:110503214G>C	ENST00000378402.5	+	61	10102	c.9998G>C	c.(9997-9999)gGc>gCc	p.G3333A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3333					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGAACATGGCTCATCTTAT	0.323000										HNSCC(38;0.096)			10	85					0	0	0.058154	0	0
METTL24	728464	broad.mit.edu	37	6	110620186	110620186	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:110620186T>C	ENST00000338882.4	-	4	724	c.725A>G	c.(724-726)cAa>cGa	p.Q242R		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	242						extracellular region											ATGTGGTTTTTGGGCAGCAAC	0.433000													10	64					0	0	0.069234	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825096	111825096	+	RNA	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:111825096C>G	ENST00000369743.4	+	0	980					NR_003928.1																						TGGCACTGCTCCGTAAGTTCT	0.433000													14	55					0	0	0.105934	0	0
C1R	715	broad.mit.edu	37	12	7188312	7188312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:7188312G>A	ENST00000542285.1	-	11	1635	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*				P00736	C1R_HUMAN	complement component 1, r subcomponent	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACTCATCCTGACGGTAGTCC	0.567000													5	135					0	0	0.184627	0	0
CD93	22918	broad.mit.edu	37	20	23065698	23065698	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:23065698G>A	ENST00000246006.4	-	1	1279	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	378	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCTCTCCAGGACCGCCCGGC	0.637000													5	41					0	0	0.184627	0	0
MYH8	4626	broad.mit.edu	37	17	10293859	10293859	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:10293859G>A	ENST00000403437.2	-	40	5820	c.5726C>T	c.(5725-5727)gCc>gTc	p.A1909V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1909					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGTTCCTCGGCCTCCTCCAG	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	166					0	0	0.160694	0	0
DCHS2	54798	broad.mit.edu	37	4	155243620	155243620	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:155243620T>G	ENST00000357232.4	-	13	2673	c.2674A>C	c.(2674-2676)Aag>Cag	p.K892Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCGTCAATCTTAAAGTGATCA	0.338000													3	39					0	0	0.184627	0	0
NOL7	51406	broad.mit.edu	37	6	13620550	13620550	+	Missense_Mutation	SNP	A	A	G	rs139715216		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:13620550A>G	ENST00000451315.2	+	6	643	c.611A>G	c.(610-612)aAc>aGc	p.N204S	NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Silent_p.L76L	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	204						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CCAGGAACCAACAGGACTACT	0.353000													12	144					0	0	0.119110	0	0
GNA13	10672	broad.mit.edu	37	17	63049662	63049662	+	Silent	SNP	G	G	A	rs141132978		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:63049662G>A	ENST00000439174.2	-	2	713	c.468C>T	c.(466-468)agC>agT	p.S156S	GNA13_ENST00000541118.1_Silent_p.S61S	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	156					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCTGTATGCCGCTGTCTGCCC	0.428000													4	167					0	0	0.150653	0	0
RHO	6010	broad.mit.edu	37	3	129251521	129251521	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:129251521C>G	ENST00000296271.3	+	4	936	c.842C>G	c.(841-843)tCc>tGc	p.S281C		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	281					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CACCAGGGCTCCAACTTCGGT	0.542000													4	80					0	0	0.150653	0	0
SOGA2	23255	broad.mit.edu	37	18	8718434	8718434	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:8718434G>A	ENST00000306329.11	+	2	1066	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SOGA2_ENST00000400050.3_5'UTR|SOGA2_ENST00000517570.1_5'UTR|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_5'UTR			Q9Y4B5	CC165_HUMAN	SOGA family member 2	347																	TGAGTTAGATGAACTCCGTGC	0.433000													7	65					0	0	0.047766	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431067	140431067	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140431067G>A	ENST00000306549.3	+	1	89	c.12G>A	c.(10-12)acG>acA	p.T4T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		4					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGGTACGCGCAGAAAAT	0.488000													18	44					0	0	0.234183	0	0
CNGB1	1258	broad.mit.edu	37	16	57954290	57954290	+	Splice_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:57954290C>A	ENST00000564448.1	-	19	1844		c.e19+1		CNGB1_ENST00000251102.8_Splice_Site			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1						sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCCAGACTCACAGGGCTTGGG	0.577000													5	75					3.59834e-05	3.87489e-05	0.217242	1	0
CSMD1	64478	broad.mit.edu	37	8	3265698	3265698	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:3265698T>A	ENST00000520002.1	-	15	2352	c.1797A>T	c.(1795-1797)ccA>ccT	p.P599P	CSMD1_ENST00000537824.1_Silent_p.P598P|CSMD1_ENST00000542608.1_Silent_p.P598P|CSMD1_ENST00000602557.1_Silent_p.P599P|CSMD1_ENST00000539096.1_Silent_p.P598P|CSMD1_ENST00000602723.1_Silent_p.P599P|CSMD1_ENST00000400186.3_Silent_p.P599P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	599	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGATAATTTGGTGACAGAA	0.358000													4	20					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179546386	179546386	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179546386A>G	ENST00000589042.1	-	136	33397		c.e136+1		TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCACTCTACCTTTAGCCG	0.393000													8	83					0	0	0.278610	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566553	129566553	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:129566553C>T	ENST00000422113.2	-	7	2000	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	TMEM132D_ENST00000389441.4_Silent_p.E96E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	558						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATCATCCTCCTCCTCTTCAC	0.642000													8	64					0	0	0.047766	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74676897	74676897	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:74676897C>T	ENST00000380494.5	-	17	2424	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000405807.4_Splice_Site_p.V583M|COL4A3BP_ENST00000261415.7_Splice_Site_p.V557M	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	583					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAATACATACCATTAGCTACA	0.353000													15	114					0	0	0.146539	0	0
MOCS3	27304	broad.mit.edu	37	20	49575926	49575926	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:49575926G>A	ENST00000244051.1	+	1	564	c.547G>A	c.(547-549)Gtg>Atg	p.V183M		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	183					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CTCGGACAACGTGCCCACTCG	0.612000													10	178					0	0	0.105934	0	0
CLC	1178	broad.mit.edu	37	19	40222062	40222062	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:40222062A>T	ENST00000221804.4	-	4	462	c.387T>A	c.(385-387)gaT>gaA	p.D129E		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	129	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TCAGGGAGATATCTCTCCACA	0.428000													28	328					0	0	0.108266	0	0
PCDH18	54510	broad.mit.edu	37	4	138450989	138450989	+	Missense_Mutation	SNP	G	G	A	rs141406870		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:138450989G>A	ENST00000344876.4	-	1	2640	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	PCDH18_ENST00000507846.1_Missense_Mutation_p.R532W|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R752W|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	752					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGAATCTGCCGGGATGGCCTT	0.488000													13	70					0	0	0.105934	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726595	145726595	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:145726595A>G	ENST00000292539.4	+	10	2038	c.1121A>G	c.(1120-1122)cAg>cGg	p.Q374R	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.Q374R			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	374						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTGGCAACAGCCGCCGCCC	0.716000													3	32					0	0	0.150653	0	0
MTRF1	9617	broad.mit.edu	37	13	41834630	41834630	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:41834630T>C	ENST00000379480.4	-	2	514	c.414A>G	c.(412-414)aaA>aaG	p.K138K	MTRF1_ENST00000379477.1_Splice_Site_p.K138K|MTRF1_ENST00000430347.2_Splice_Site_p.K151K|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	138					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTTACCTACTTTTACACATTG	0.368000													9	55					0	0	0.047766	0	0
MAPK15	225689	broad.mit.edu	37	8	144804019	144804019	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:144804019G>A	ENST00000338033.4	+	13	1546	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	476					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGAACCGGGGCGGTGGGGTG	0.687000													8	35					0	0	0.278610	0	0
PABPC3	5042	broad.mit.edu	37	13	25672014	25672014	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:25672014C>A	ENST00000281589.3	+	1	1715	c.1678C>A	c.(1678-1680)Cgg>Agg	p.R560R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	560	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTTAGGTGAACGGCTCTTTCC	0.443000													14	167					7.93312e-07	8.85575e-07	0.119110	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73076736	73076736	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:73076736C>T	ENST00000263674.3	+	20	6089	c.5739C>T	c.(5737-5739)atC>atT	p.I1913I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1913					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGGATGCCATCATCCGGCAGC	0.637000													11	52					0	0	0.093190	0	0
PKD1	5310	broad.mit.edu	37	16	2161007	2161007	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:2161007T>C	ENST00000262304.4	-	15	4369	c.4161A>G	c.(4159-4161)ccA>ccG	p.P1387P	PKD1_ENST00000423118.1_Silent_p.P1387P	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1387	PKD 9.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTGCCTCTCTGGCTGCAGGG	0.657000													8	72					0	0	0.047766	0	0
ESRRB	2103	broad.mit.edu	37	14	76928980	76928980	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:76928980C>A	ENST00000380887.2	+	3	562	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.L164I|ESRRB_ENST00000509242.1_Missense_Mutation_p.L164I|ESRRB_ENST00000261532.7_Missense_Mutation_p.L164I			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATGAAATGCCTCAAAGTGGG	0.587000													14	111					2.31682e-05	2.4993e-05	0.132662	1	0
PRMT3	10196	broad.mit.edu	37	11	20411359	20411359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:20411359G>A	ENST00000437750.2	+	2	129	c.98G>A	c.(97-99)tGg>tAg	p.W33*	PRMT3_ENST00000331079.6_Missense_Mutation_p.M78I	NM_001145166.1	NP_001138638	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	33							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGACAGCATGGTTCATAAAC	0.373000													8	104					0	0	0.047766	0	0
IFT172	26160	broad.mit.edu	37	2	27671871	27671871	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:27671871C>T	ENST00000260570.3	-	40	4442	c.4339G>A	c.(4339-4341)Gct>Act	p.A1447T		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1447					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCATACAAAGCCACATACTTG	0.547000													27	157					0	0	0.099896	0	0
ROBO2	6092	broad.mit.edu	37	3	77147265	77147265	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:77147265G>C	ENST00000461745.1	+	2	1062	c.162G>C	c.(160-162)gcG>gcC	p.A54A	ROBO2_ENST00000487694.3_Silent_p.A70A|ROBO2_ENST00000332191.8_Silent_p.A54A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617000													9	46					0	0	0.047766	0	0
WDR7	23335	broad.mit.edu	37	18	54629687	54629687	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:54629687G>T	ENST00000254442.3	+	26	4302	c.4091G>T	c.(4090-4092)cGg>cTg	p.R1364L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1331L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1364										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TATTATGAGCGGAATCACAGA	0.443000													12	53					1.08611e-07	1.22589e-07	0.080935	1	0
COL2A1	1280	broad.mit.edu	37	12	48393799	48393799	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:48393799G>A	ENST00000380518.3	-	2	359	c.195C>T	c.(193-195)gaC>gaT	p.D65D	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	65	VWFC.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGATTATGTCGTCGCAGAGGA	0.572000													4	75					0	0	0.217242	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745605	140745605	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140745605G>A	ENST00000518069.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCCCACAGACGGTTCCAC	0.617000													12	227					0	0	0.093190	0	0
SH3TC1	54436	broad.mit.edu	37	4	8233834	8233834	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:8233834C>G	ENST00000539824.1	+	13	3228	c.2854C>G	c.(2854-2856)Cag>Gag	p.Q952E	SH3TC1_ENST00000245105.3_Missense_Mutation_p.Q1028E			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1028							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGGAGGGGCAGCTCCTGGA	0.677000													6	43					0	0	0.217242	0	0
CCDC91	55297	broad.mit.edu	37	12	28702105	28702105	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:28702105A>G	ENST00000545336.1	+	16	1744	c.1325A>G	c.(1324-1326)tAa>tGa	p.*442*	CCDC91_ENST00000381256.1_Silent_p.*406*|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Silent_p.*412*|CCDC91_ENST00000539107.1_Silent_p.*406*|CCDC91_ENST00000381259.1_Silent_p.*442*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	0					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GACATTGAATAAAAAGAACAT	0.378000													16	144					0	0	0.160694	0	0
HRC	3270	broad.mit.edu	37	19	49658161	49658161	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:49658161T>C	ENST00000252825.4	-	1	520	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	HRC_ENST00000595625.1_Missense_Mutation_p.K112E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	112	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCTCCGACTTTGTGGTCTTGG	0.577000													12	114					0	0	0.080935	0	0
BAGE2	85319	broad.mit.edu	37	21	11098817	11098817	+	RNA	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:11098817C>A	ENST00000470054.1	-	0	108									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gttgccaccaccatccagagc	0.622000													28	89					1.32003e-05	1.43033e-05	0.108266	1	0
NPAP1	23742	broad.mit.edu	37	15	24923472	24923472	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:24923472A>G	ENST00000329468.2	+	1	2932	c.2458A>G	c.(2458-2460)Att>Gtt	p.I820V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAAGCCTGCCATTGACACCAG	0.502000													44	174					0	0	0.131918	0	0
C2orf50	130813	broad.mit.edu	37	2	11280654	11280654	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:11280654C>T	ENST00000381585.3	+	2	558	c.276C>T	c.(274-276)ttC>ttT	p.F92F	C2orf50_ENST00000405022.3_Silent_p.F92F			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	92										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		ACTGGAGTTTCCTGAAAGACT	0.368000													6	90					0	0	0.217242	0	0
ST5	6764	broad.mit.edu	37	11	8751900	8751900	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:8751900C>T	ENST00000534127.1	-	6	1322	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.G313R|ST5_ENST00000313726.6_Missense_Mutation_p.G313R|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	313					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCTTTTCCCCCGGTCCACG	0.672000													16	144					0	0	0.146539	0	0
ZNF532	55205	broad.mit.edu	37	18	56586388	56586388	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:56586388C>G	ENST00000336078.4	+	4	1645	c.869C>G	c.(868-870)cCa>cGa	p.P290R	ZNF532_ENST00000591808.1_Missense_Mutation_p.P290R|ZNF532_ENST00000591083.1_Missense_Mutation_p.P290R|ZNF532_ENST00000589288.1_Missense_Mutation_p.P290R|ZNF532_ENST00000591230.1_Missense_Mutation_p.P290R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCAAAGAACCAGTGGCCAAT	0.547000													33	158					0	0	0.153744	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356215	37356215	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:37356215T>C	ENST00000217420.1	+	2	774	c.511T>C	c.(511-513)Tac>Cac	p.Y171H		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	171					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCGTGCCTGTACGAGGAGAA	0.652000													4	102					0	0	0.217242	0	0
HAT1	8520	broad.mit.edu	37	2	172844254	172844254	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:172844254G>A	ENST00000264108.4	+	10	1106	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R272K	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	357					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GATATTAAAAGAAGACTAATT	0.348000													8	107					0	0	0.278610	0	0
ADPGK	83440	broad.mit.edu	37	15	73044710	73044710	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:73044710A>T	ENST00000311669.8	-	7	1556	c.1463T>A	c.(1462-1464)tTc>tAc	p.F488Y	ADPGK_ENST00000456471.2_Missense_Mutation_p.F214Y	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	489	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TTCCGAATAGAAGAGTCCTTC	0.438000													5	55					0	0	0.184627	0	0
MYOF	26509	broad.mit.edu	37	10	95095796	95095796	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:95095796T>A	ENST00000371501.4	-	41	4567	c.4445A>T	c.(4444-4446)aAt>aTt	p.N1482I	MYOF_ENST00000359263.4_Missense_Mutation_p.N1482I|MYOF_ENST00000358334.5_Missense_Mutation_p.N1469I|MYOF_ENST00000371502.4_Missense_Mutation_p.N1501I			Q9NZM1	MYOF_HUMAN	myoferlin	1482					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGTTCACAATTATATATCTG	0.398000													5	130					0	0	0.184627	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457543	42457543	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:42457543A>G	ENST00000381668.5	-	28	2924	c.2693T>C	c.(2692-2694)gTg>gCg	p.V898A	ATP8A1_ENST00000264449.10_Splice_Site_p.V883A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	898					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAAACTTACCACGTTATAGAG	0.398000													7	91					0	0	0.248553	0	0
NPHP3	27031	broad.mit.edu	37	3	132405184	132405184	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:132405184A>T	ENST00000337331.5	-	23	3335	c.3249T>A	c.(3247-3249)ctT>ctA	p.L1083L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1083					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TACCTAATGTAAGCTCTTCTA	0.418000													13	125					0	0	0.093190	0	0
HVCN1	84329	broad.mit.edu	37	12	111088078	111088078	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:111088078G>A	ENST00000356742.5	-	6	1404	c.651C>T	c.(649-651)atC>atT	p.I217I	HVCN1_ENST00000242607.8_Silent_p.I217I|HVCN1_ENST00000439744.2_Silent_p.I197I|HVCN1_ENST00000548312.1_Silent_p.I217I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	217					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TAACTGAGATGATAATCCCTG	0.398000													10	53					0	0	0.069234	0	0
CNTN4	152330	broad.mit.edu	37	3	2908534	2908534	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:2908534G>C	ENST00000397461.1	+	7	937	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	CNTN4_ENST00000418658.1_Missense_Mutation_p.E185Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E185Q|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	185	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGCCAAAGTAGAAAAATCAGA	0.428000													14	153					0	0	0.119110	0	0
MBD6	114785	broad.mit.edu	37	12	57919782	57919782	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:57919782G>A	ENST00000355673.3	+	6	1387	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	MBD6_ENST00000431731.2_Missense_Mutation_p.R344Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	344	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTACAGGGCCGAAGGCCCCGT	0.637000													5	73					0	0	0.184627	0	0
DOC2A	8448	broad.mit.edu	37	16	30018534	30018534	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:30018534T>C	ENST00000350119.4	-	6	804	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	DOC2A_ENST00000564944.1_Missense_Mutation_p.Q205R|DOC2A_ENST00000564979.1_Missense_Mutation_p.Q205R	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	205					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ATGCTTCTTCTGCGAAGGCTT	0.637000													5	56					0	0	0.184627	0	0
MYO3A	53904	broad.mit.edu	37	10	26462934	26462934	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:26462934G>C	ENST00000265944.5	+	30	3907	c.3741G>C	c.(3739-3741)gaG>gaC	p.E1247D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1247					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACACAGAGGAGAGGAATTGTG	0.438000													5	121					0	0	0.217242	0	0
REG3G	130120	broad.mit.edu	37	2	79253870	79253870	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:79253870A>T	ENST00000272324.5	+	3	292	c.108A>T	c.(106-108)ccA>ccT	p.P36P	REG3G_ENST00000393897.2_Silent_p.P36P|REG3G_ENST00000409471.1_Silent_p.P36P	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	36					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCCTCTCCACGGATCAGCT	0.522000													16	66					0	0	0.146539	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900377	34900377	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:34900377G>A	ENST00000246535.3	+	4	695	c.648G>A	c.(646-648)caG>caA	p.Q216Q	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	216						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACTATCAGCAGAGAGAAGGCA	0.512000													4	104					0	0	0.217242	0	0
LRGUK	136332	broad.mit.edu	37	7	133824269	133824269	+	Splice_Site	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:133824269A>T	ENST00000285928.2	+	3	555	c.486A>T	c.(484-486)gaA>gaT	p.E162D	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	162							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATAAAATTGAAGGTATGTAAT	0.308000													4	42					0	0	0.150653	0	0
SETDB1	9869	broad.mit.edu	37	1	150921906	150921906	+	Silent	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:150921906A>C	ENST00000271640.5	+	12	1675	c.1485A>C	c.(1483-1485)cgA>cgC	p.R495R	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.R495R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTCCTTTCGACCAGGATCTG	0.507000													59	110					0	0	0.139131	0	0
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:22155282T>C	ENST00000397126.4	-	4	2702	c.2554A>G	c.(2554-2556)Aag>Gag	p.K852E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTACCTTATGTTTAGTA	0.373000													30	79					0	0	0.144211	0	0
CNGB3	54714	broad.mit.edu	37	8	87755755	87755755	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:87755755C>G	ENST00000320005.5	-	1	148	c.101G>C	c.(100-102)aGt>aCt	p.S34T	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	34					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGACTGATTACTTGGGTGAGA	0.398000													56	87					0	0	0.139131	0	0
GNA15	2769	broad.mit.edu	37	19	3151779	3151779	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:3151779T>C	ENST00000262958.3	+	4	818	c.560T>C	c.(559-561)aTg>aCg	p.M187T	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	187					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGCAGCCGCATGCCCACCACT	0.647000													12	173					0	0	0.119110	0	0
LRMP	4033	broad.mit.edu	37	12	25249845	25249845	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:25249845C>T	ENST00000354454.3	+	14	1437	c.608C>T	c.(607-609)tCt>tTt	p.S203F	LRMP_ENST00000548766.1_Splice_Site_p.S203F|LRMP_ENST00000547044.1_Splice_Site_p.S203F|RP11-713N11.4_ENST00000555862.1_RNA	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	259					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTATACAGTCTTTAACACCT	0.398000													14	115					0	0	0.119110	0	0
MARCO	8685	broad.mit.edu	37	2	119739073	119739073	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:119739073A>T	ENST00000541757.1	+	10	1001	c.621A>T	c.(619-621)ccA>ccT	p.P207P	MARCO_ENST00000327097.4_Silent_p.P285P			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	285	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCGGGAGGCCAGGCCCACCAG	0.517000													7	23					0	0	0.248553	0	0
OR9G4	283189	broad.mit.edu	37	11	56510804	56510804	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:56510804C>G	ENST00000302957.3	-	1	483	c.484G>C	c.(484-486)Ggc>Cgc	p.G162R		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATGTAGGAGCCAGCAACAAGC	0.463000													31	168					0	0	0.125774	0	0
LOC441666	441666	broad.mit.edu	37	10	42832499	42832499	+	RNA	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:42832499C>G	ENST00000609841.1	-	0	1404					NR_024380.1																						TCTCCCCTATCAATTATGTTT	0.363000													4	13					0	0	0.150653	0	0
ANKRD23	200539	broad.mit.edu	37	2	97507879	97507879	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:97507879G>T	ENST00000318357.4	-	3	259	c.218C>A	c.(217-219)gCt>gAt	p.A73D	ANKRD23_ENST00000418232.1_Missense_Mutation_p.A73D|ANKRD23_ENST00000331001.2_Missense_Mutation_p.A73D	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	73						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTCCAAGTCAGCCAGGTTATC	0.517000													35	144					4.4194e-11	5.12096e-11	0.173368	1	0
VPS13B	157680	broad.mit.edu	37	8	100779154	100779154	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:100779154G>C	ENST00000358544.2	+	40	7389	c.7278G>C	c.(7276-7278)tgG>tgC	p.W2426C	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.W2401C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2426					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGATCTTTGGAGAATTGTCT	0.363000													6	78					0	0	0.217242	0	0
SEPT14	346288	broad.mit.edu	37	7	55863677	55863677	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:55863677T>A	ENST00000388975.3	-	10	1344	c.1228A>T	c.(1228-1230)Aaa>Taa	p.K410*		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	410					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGGCAGCTTTCATTTTATAA	0.388000													15	94					0	0	0.132662	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030151	10030151	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:10030151A>T	ENST00000378380.3	+	6	1263	c.934A>T	c.(934-936)Aaa>Taa	p.K312*	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.K312*	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AATCGCTAATAAACTAGCCAG	0.507000													18	113					0	0	0.160694	0	0
KDM2B	84678	broad.mit.edu	37	12	122018741	122018741	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:122018741T>C	ENST00000377071.4	-	1	148	c.76A>G	c.(76-78)Aag>Gag	p.K26E	KDM2B_ENST00000538046.2_Missense_Mutation_p.K26E|RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000536437.1_5'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	26					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACTGTTTTCTTTTTTTGCTTT	0.502000													25	201					0	0	0.294199	0	0
GARNL3	84253	broad.mit.edu	37	9	130117672	130117672	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:130117672A>G	ENST00000373387.4	+	20	2208	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S	GARNL3_ENST00000435213.2_Missense_Mutation_p.N597S|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Missense_Mutation_p.N619S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	619	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGAAAACACAACAAGCCAAGC	0.468000													36	632					0	0	0.214465	0	0
FAT4	79633	broad.mit.edu	37	4	126411544	126411544	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:126411544C>A	ENST00000394329.3	+	17	13580	c.13567C>A	c.(13567-13569)Ctg>Atg	p.L4523M	FAT4_ENST00000335110.5_Missense_Mutation_p.L2764M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4523					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCCTTAGCCTGATCCTGTG	0.537000													11	68					0.0692343	0.0699226	0.069234	1	0
DST	667	broad.mit.edu	37	6	56373374	56373374	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:56373374G>C	ENST00000370754.5	-	75	19098	c.19099C>G	c.(19099-19101)Cct>Gct	p.P6367A	DST_ENST00000446842.2_Missense_Mutation_p.P5863A|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.P3992A|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.P6078A|DST_ENST00000370769.4_Missense_Mutation_p.P6189A|DST_ENST00000421834.2_Missense_Mutation_p.P4101A|DST_ENST00000244364.6_Missense_Mutation_p.P3775A			Q03001	DYST_HUMAN	dystonin	6187					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAATTCCAGGATCTTCCAGG	0.378000													23	150					0	0	0.099896	0	0
APPL2	55198	broad.mit.edu	37	12	105600932	105600932	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:105600932G>C	ENST00000258530.3	-	8	753	c.528C>G	c.(526-528)ctC>ctG	p.L176L	APPL2_ENST00000551662.1_Silent_p.L182L|APPL2_ENST00000539978.2_Silent_p.L133L|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	176	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAAGGGAGGAGAGGTGCTGCT	0.542000													9	75					0	0	0.058154	0	0
DPYD	1806	broad.mit.edu	37	1	98060654	98060654	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:98060654T>C	ENST00000370192.3	-	9	1019	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	307					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAAAAGTCTTTGGATGTATAA	0.343000													12	96					0	0	0.119110	0	0
TEX101	83639	broad.mit.edu	37	19	43922100	43922100	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:43922100T>C	ENST00000602198.1	+	7	958	c.516T>C	c.(514-516)tcT>tcC	p.S172S	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.S172S|TEX101_ENST00000598265.1_Silent_p.S154S	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	154						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GTGCTCCTTCTCTTCCCTGTC	0.468000													24	190					0	0	0.279207	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292651	4292651	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:4292651G>C	ENST00000301272.2	-	5	839	c.794C>G	c.(793-795)cCa>cGa	p.P265R	TMIGD2_ENST00000600114.1_Missense_Mutation_p.P145R|TMIGD2_ENST00000600349.1_Missense_Mutation_p.P93R|TMIGD2_ENST00000595645.1_Missense_Mutation_p.P261R	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	265	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGGCTTGGTCTAGGAGA	0.662000													15	152					0	0	0.175082	0	0
OR5D16	390144	broad.mit.edu	37	11	55606921	55606921	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:55606921T>G	ENST00000378396.1	+	1	694	c.694T>G	c.(694-696)Tca>Gca	p.S232A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GAAGATGCCTTCAGCCAGTGG	0.478000													60	102					0	0	0.139131	0	0
LY75	4065	broad.mit.edu	37	2	160710177	160710177	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:160710177C>G	ENST00000263636.4	-	19	2654	c.2627G>C	c.(2626-2628)aGa>aCa	p.R876T	LY75_ENST00000554112.1_Missense_Mutation_p.R876T|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R876T|LY75_ENST00000553424.1_Missense_Mutation_p.R876T|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R876T	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTCGCTAATTCTTATCCACCA	0.363000													11	124					0	0	0.105934	0	0
SKIL	6498	broad.mit.edu	37	3	170108878	170108878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:170108878C>T	ENST00000458537.3	+	5	2435	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	SKIL_ENST00000259119.4_Nonsense_Mutation_p.Q576*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.Q530*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.Q556*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	576					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.Q576*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGAAGAACAGCAGAATTTACA	0.313000													6	64					0	0	0.278610	0	0
PDE4B	5142	broad.mit.edu	37	1	66833733	66833733	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:66833733T>C	ENST00000423207.2	+	13	2087	c.1602T>C	c.(1600-1602)taT>taC	p.Y534Y	PDE4B_ENST00000371045.5_Silent_p.Y377Y|PDE4B_ENST00000329654.4_Silent_p.Y549Y|PDE4B_ENST00000480109.2_Silent_p.Y316Y|PDE4B_ENST00000371049.3_Silent_p.Y549Y	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	549					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TAGACAACTATACCGATCGCA	0.363000													7	57					0	0	0.278610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85460553	85460553	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:85460553G>A	ENST00000393217.2	+	10	2633	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	858										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATTGAGTGTGAAAATTTGGA	0.303000													4	49					0	0	0.150653	0	0
TBC1D27	96597	broad.mit.edu	37	17	16829305	16829305	+	RNA	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:16829305G>A	ENST00000261651.2	-	0	3075																											TCCAGGCTGGGGCTGGTGGCC	0.612000													2	2					0	0	0.115264	0	0
OR5H2	79310	broad.mit.edu	37	3	98002424	98002424	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:98002424A>G	ENST00000355273.2	+	1	693	c.693A>G	c.(691-693)ctA>ctG	p.L231L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCACAATCCTAAAAAAGAAGT	0.353000													10	101					0	0	0.058154	0	0
FLNB	2317	broad.mit.edu	37	3	58124086	58124086	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:58124086A>G	ENST00000357272.4	+	29	5104	c.4939A>G	c.(4939-4941)Aaa>Gaa	p.K1647E	FLNB_ENST00000429972.2_Missense_Mutation_p.K1647E|FLNB_ENST00000358537.3_Missense_Mutation_p.K1647E|FLNB_ENST00000295956.4_Missense_Mutation_p.K1647E|FLNB_ENST00000348383.5_Missense_Mutation_p.K1647E|FLNB_ENST00000419752.2_Missense_Mutation_p.K1478E|FLNB_ENST00000493452.1_Missense_Mutation_p.K1478E|FLNB_ENST00000490882.1_Missense_Mutation_p.K1678E			O75369	FLNB_HUMAN	filamin B, beta	1647					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGGGAAGGGTAAAGTGACCTG	0.527000													17	139					0	0	0.146539	0	0
TTN	7273	broad.mit.edu	37	2	179434504	179434504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179434504C>T	ENST00000589042.1	-	326	76579	c.76355G>A	c.(76354-76356)tGg>tAg	p.W25452*	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W22884*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W16512*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W16387*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W16579*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W23811*|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23811	Fibronectin type-III 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACATTGTCCATTCACCAAC	0.363000													9	107					0	0	0.058154	0	0
MYO6	4646	broad.mit.edu	37	6	76618224	76618224	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:76618224C>G	ENST00000369981.3	+	33	3601	c.3322C>G	c.(3322-3324)Ctg>Gtg	p.L1108V	MYO6_ENST00000369975.1_Missense_Mutation_p.L1075V|MYO6_ENST00000369977.3_Missense_Mutation_p.L1098V|MYO6_ENST00000369985.4_Missense_Mutation_p.L1075V			Q9UM54	MYO6_HUMAN	myosin VI	1107					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TATTGAGCTCCTGGCAGCTTG	0.333000													11	85					0	0	0.105934	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945581	45945581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:45945581C>A	ENST00000323084.4	-	8	1356	c.1291G>T	c.(1291-1293)Gag>Tag	p.E431*	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Nonsense_Mutation_p.E363*	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	431					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCATCCACCTCGAAGGCCTCC	0.587000													18	212					8.34094e-07	9.29397e-07	0.204396	1	0
CCDC81	60494	broad.mit.edu	37	11	86120324	86120324	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:86120324G>A	ENST00000278487.3	+	9	1419	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CCDC81_ENST00000354755.1_Missense_Mutation_p.E289K|CCDC81_ENST00000528728.1_Missense_Mutation_p.E114K|CCDC81_ENST00000445632.2_Missense_Mutation_p.E379K			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	379										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGCTACTAGAGAACAGAATCA	0.279000													7	136					0	0	0.278610	0	0
CAP1	10487	broad.mit.edu	37	1	40536618	40536618	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:40536618G>C	ENST00000372797.3	+	12	1872	c.1311G>C	c.(1309-1311)atG>atC	p.M437I	CAP1_ENST00000372792.2_Missense_Mutation_p.M437I|CAP1_ENST00000372798.1_Missense_Mutation_p.M436I|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.M436I|CAP1_ENST00000372802.1_Missense_Mutation_p.M436I|CAP1_ENST00000372805.3_Missense_Mutation_p.M437I	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	437	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTCCGAGATGAATGTCCTCA	0.413000													39	156					0	0	0.257332	0	0
MYH7B	57644	broad.mit.edu	37	20	33587469	33587469	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:33587469G>C	ENST00000262873.7	+	35	4854	c.4762G>C	c.(4762-4764)Gag>Cag	p.E1588Q		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1546						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGAAGAGTGAGATCCAGGC	0.622000													8	26					0	0	0.278610	0	0
OR8A1	390275	broad.mit.edu	37	11	124440497	124440497	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:124440497G>T	ENST00000284287.3	+	1	605	c.533G>T	c.(532-534)gGc>gTc	p.G178V		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ATAGAAACTGGCCTCATGTTA	0.488000													7	89					0.00448238	0.00461488	0.047766	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52704314	52704314	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:52704314G>A	ENST00000287727.3	+	4	1397	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E409K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E409K			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	409					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAAACTAAATGAGATGAATGA	0.378000													25	150					0	0	0.264190	0	0
CFHR5	81494	broad.mit.edu	37	1	196977769	196977769	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:196977769G>A	ENST00000367414.5	+	10	1794	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	CFHR5_ENST00000256785.4_Missense_Mutation_p.A556T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	556					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCATTTCGAGCAATCTGTCA	0.363000													6	87					0	0	0.278610	0	0
BPTF	2186	broad.mit.edu	37	17	65942143	65942143	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:65942143A>T	ENST00000321892.4	+	23	7758	c.7697A>T	c.(7696-7698)cAa>cTa	p.Q2566L	BPTF_ENST00000306378.6_Missense_Mutation_p.Q2440L|BPTF_ENST00000424123.3_Intron|BPTF_ENST00000335221.5_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2566					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCTGCAACAACAAGTCCAG	0.493000													6	80					0	0	0.248553	0	0
SENP5	205564	broad.mit.edu	37	3	196627284	196627284	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:196627284G>A	ENST00000323460.5	+	5	2055		c.e5+1		SENP5_ENST00000445299.2_Splice_Site|SENP5_ENST00000419026.1_Splice_Site|SENP5_ENST00000489744.1_Splice_Site	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5						cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCCAGACAAAGTAAGTGAAAA	0.338000													10	77					0	0	0.058154	0	0
MSH4	4438	broad.mit.edu	37	1	76347029	76347029	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:76347029C>A	ENST00000263187.3	+	14	1984	c.1880C>A	c.(1879-1881)gCt>gAt	p.A627D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	627					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTGTCATTTGCTCATGCCTGC	0.328000								Mismatch excision repair (MMR)					13	103					2.61681e-11	3.03511e-11	0.119110	1	0
POU4F1	5457	broad.mit.edu	37	13	79175712	79175712	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:79175712C>A	ENST00000377208.5	-	2	1309	c.1098G>T	c.(1096-1098)gaG>gaT	p.E366D	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	366					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGGAGCGCTTCTCGGGCGCGG	0.647000													10	108					1.58986e-06	1.76507e-06	0.069234	1	0
ENPP1	5167	broad.mit.edu	37	6	132189231	132189231	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:132189231A>G	ENST00000360971.2	+	12	1258	c.1238A>G	c.(1237-1239)cAc>cGc	p.H413R		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	413	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTGAACTTGCACAGATGCCTG	0.413000													13	101					0	0	0.093190	0	0
CDC5L	988	broad.mit.edu	37	6	44413541	44413541	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:44413541G>T	ENST00000371477.3	+	15	2540	c.2241G>T	c.(2239-2241)ttG>ttT	p.L747F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	747	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGCTCACTTGGAGTTACGCA	0.403000													20	110					1.87028e-06	2.0745e-06	0.234183	1	0
HDAC9	9734	broad.mit.edu	37	7	18535933	18535933	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:18535933G>C	ENST00000406451.4	+	2	158	c.8G>C	c.(7-9)aGt>aCt	p.S3T	HDAC9_ENST00000432645.2_Missense_Mutation_p.S3T|HDAC9_ENST00000417496.2_Missense_Mutation_p.S45T|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.S31T|HDAC9_ENST00000405010.3_Missense_Mutation_p.S3T|HDAC9_ENST00000441542.2_Missense_Mutation_p.S3T|HDAC9_ENST00000401921.1_Missense_Mutation_p.S3T|HDAC9_ENST00000428307.2_Missense_Mutation_p.S3T	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGAATGCACAGTATGATCAGC	0.468000													3	58					0	0	0.150653	0	0
KIAA0556	23247	broad.mit.edu	37	16	27692754	27692754	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:27692754G>A	ENST00000261588.4	+	8	862	c.843G>A	c.(841-843)cgG>cgA	p.R281R	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	281										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGCAAAGCGGAAGGACAATG	0.488000													34	256					0	0	0.173368	0	0
GPC1	2817	broad.mit.edu	37	2	241405565	241405565	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:241405565C>G	ENST00000264039.2	+	9	1783	c.1535C>G	c.(1534-1536)aCg>aGg	p.T512R	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	512					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		AGCTCCCGGACGCCCTTGACC	0.677000													5	59					0	0	0.278610	0	0
CASP8	841	broad.mit.edu	37	2	202149735	202149735	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:202149735C>G	ENST00000358485.4	+	8	1372	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	CASP8_ENST00000264274.9_Missense_Mutation_p.I249M|CASP8_ENST00000432109.2_Missense_Mutation_p.I333M|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M|CASP8_ENST00000323492.7_Missense_Mutation_p.I318M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	333					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCCCCCATCTATGAGCTGA	0.488000										HNSCC(4;0.00038)			16	152					0	0	0.160694	0	0
OSR1	130497	broad.mit.edu	37	2	19552143	19552143	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:19552143T>G	ENST00000536433.1	-	2	3804	c.694A>C	c.(694-696)Aag>Cag	p.K232Q	OSR1_ENST00000272223.2_Missense_Mutation_p.K232Q			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	232					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TCTTGACACTTGAAGGGCTTC	0.468000													23	115					0	0	0.279207	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067008	18067008	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:18067008T>C	ENST00000506618.2	-	1	478	c.398A>G	c.(397-399)cAa>cGa	p.Q133R		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	133					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GCCCTGAATTTGAGAAGCATG	0.453000													16	140					0	0	0.160694	0	0
TNS1	7145	broad.mit.edu	37	2	218682980	218682980	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:218682980G>T	ENST00000171887.4	-	24	4215	c.3763C>A	c.(3763-3765)Cag>Aag	p.Q1255K	TNS1_ENST00000419504.1_Missense_Mutation_p.Q1242K|TNS1_ENST00000430930.1_Missense_Mutation_p.Q1234K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1255						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCAGAAACCTGGTAGACCCCT	0.677000													4	31					0.150653	0.151399	0.150653	1	0
SP100	6672	broad.mit.edu	37	2	231407633	231407633	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:231407633C>G	ENST00000340126.4	+	29	2661	c.2630C>G	c.(2629-2631)aCa>aGa	p.T877R	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTCAGGAAACAAGCAAGAAC	0.378000													4	65					0	0	0.150653	0	0
NKAPL	222698	broad.mit.edu	37	6	28227299	28227299	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:28227299C>A	ENST00000343684.3	+	1	202	c.150C>A	c.(148-150)ggC>ggA	p.G50G		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	50										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GCCGTGAGGGCCTCAGGCCTC	0.652000													5	96					0.184627	0.185388	0.184627	1	0
BCL2L11	10018	broad.mit.edu	37	2	111881359	111881359	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:111881359G>A	ENST00000393256.3	+	2	310	c.37G>A	c.(37-39)Gac>Aac	p.D13N	BCL2L11_ENST00000405953.1_Missense_Mutation_p.D13N|BCL2L11_ENST00000308659.8_Missense_Mutation_p.D13N|BCL2L11_ENST00000337565.5_Missense_Mutation_p.D13N|BCL2L11_ENST00000393253.2_Missense_Mutation_p.D13N|BCL2L11_ENST00000357757.2_Missense_Mutation_p.D13N	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	13					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTCTGAGTGTGACCGAGAAGG	0.443000													6	128					0	0	0.217242	0	0
CD248	57124	broad.mit.edu	37	11	66084237	66084237	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:66084237G>T	ENST00000311330.3	-	1	278	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	88	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GCCTGCCGCTGCAGCCCGATC	0.731000													3	47					0.115264	0.116025	0.115264	1	0
OR4N2	390429	broad.mit.edu	37	14	20296168	20296168	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:20296168G>C	ENST00000315947.1	+	1	561	c.561G>C	c.(559-561)ctG>ctC	p.L187L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCAAGCTGGCCTGCACCG	0.537000													17	360					0	0	0.146539	0	0
GRIK3	2899	broad.mit.edu	37	1	37315963	37315963	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:37315963A>G	ENST00000373091.3	-	9	1291	c.1275T>C	c.(1273-1275)ccT>ccC	p.P425P	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.P425P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	425					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGTGACATTAGGGCCTCGGC	0.587000													4	75					0	0	0.184627	0	0
SLC12A2	6558	broad.mit.edu	37	5	127487015	127487015	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:127487015T>C	ENST00000262461.2	+	14	2379	c.2190T>C	c.(2188-2190)atT>atC	p.I730I	SLC12A2_ENST00000343225.4_Silent_p.I730I	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	730					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGTTCGTCATTAACTGGTGGG	0.368000													20	132					0	0	0.219247	0	0
CCDC37	348807	broad.mit.edu	37	3	126132968	126132968	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:126132968T>C	ENST00000393425.1	+	4	270	c.171T>C	c.(169-171)tcT>tcC	p.S57S	CCDC37_ENST00000510833.1_Silent_p.S57S|CCDC37_ENST00000505024.1_Silent_p.S57S|CCDC37_ENST00000352312.1_Silent_p.S57S			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	57										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCCACTTATCTGGGGATGTGG	0.562000													35	508					0	0	0.183431	0	0
CASC1	55259	broad.mit.edu	37	12	25263138	25263138	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:25263138C>A	ENST00000354189.5	-	15	2025	c.1990G>T	c.(1990-1992)Gcc>Tcc	p.A664S	CASC1_ENST00000320267.9_Missense_Mutation_p.A600S|CASC1_ENST00000545133.1_Missense_Mutation_p.A541S|CASC1_ENST00000537577.1_Missense_Mutation_p.A488S|CASC1_ENST00000395987.3_Missense_Mutation_p.A606S|CASC1_ENST00000395990.2_Missense_Mutation_p.A560S	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	600										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTAGTAGGGCCATCTGTCGA	0.373000													4	84					0.00909568	0.00928613	0.150653	1	0
ABCB11	8647	broad.mit.edu	37	2	169781193	169781193	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:169781193A>G	ENST00000263817.6	-	27	3863	c.3739T>C	c.(3739-3741)Tct>Cct	p.S1247P		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1247	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCTAAGGCAGAAGTGGCTTCA	0.388000													7	93					0	0	0.248553	0	0
EPS15	2060	broad.mit.edu	37	1	51873848	51873848	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:51873848G>C	ENST00000371733.3	-	15	1528	c.1432C>G	c.(1432-1434)Ctt>Gtt	p.L478V	EPS15_ENST00000371730.2_Intron|EPS15_ENST00000396122.4_Missense_Mutation_p.L155V|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	478					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGCTGCTGAAGAGGTTCCAAC	0.423000			T	MLL	ALL								35	249					0	0	0.214465	0	0
VCAM1	7412	broad.mit.edu	37	1	101200296	101200296	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:101200296A>G	ENST00000294728.2	+	8	2132	c.2031A>G	c.(2029-2031)caA>caG	p.Q677Q	VCAM1_ENST00000370115.1_Silent_p.Q478Q|VCAM1_ENST00000347652.2_Silent_p.Q585Q|VCAM1_ENST00000370119.4_Silent_p.Q615Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	677	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTGGCTCACAATTAAGAAGTT	0.368000													9	95					0	0	0.058154	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190142	233190142	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:233190142C>A	ENST00000258229.9	-	25	4457	c.4223G>T	c.(4222-4224)gGa>gTa	p.G1408V	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G60V	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCCCAACGTCCAAGAACTAA	0.443000													16	23					2.32078e-09	2.66137e-09	0.132662	1	0
PGLYRP1	8993	broad.mit.edu	37	19	46522837	46522837	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:46522837C>A	ENST00000008938.4	-	2	399	c.356G>T	c.(355-357)gGt>gTt	p.G119V	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	119					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CCATAAGTGACCTGAGTGGGC	0.597000													11	79					0.00829132	0.00849338	0.069234	1	0
CAP2	10486	broad.mit.edu	37	6	17541217	17541217	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:17541217C>G	ENST00000229922.2	+	9	1372	c.840C>G	c.(838-840)gtC>gtG	p.V280V	CAP2_ENST00000378990.2_Silent_p.V254V|CAP2_ENST00000465994.1_Silent_p.V216V|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Silent_p.V168V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	280					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCCGCCATGTCACAGATGACC	0.453000													14	1295					0	0	0.080935	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19285328	19285328	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:19285328T>C	ENST00000538714.1	+	3	175	c.171T>C	c.(169-171)gaT>gaC	p.D57D	PLEKHA5_ENST00000359180.3_Splice_Site_p.D57D|PLEKHA5_ENST00000540972.1_Splice_Site_p.D57D|PLEKHA5_ENST00000355397.3_Splice_Site_p.D57D|PLEKHA5_ENST00000317589.4_Splice_Site_p.D57D|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000299275.6_Splice_Site_p.D57D|PLEKHA5_ENST00000309364.4_Splice_Site_p.D57D|PLEKHA5_ENST00000429027.2_Splice_Site_p.D57D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	57	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTGTTTTAGATTTGCCTACTG	0.274000													4	76					0	0	0.184627	0	0
FAM81B	153643	broad.mit.edu	37	5	94727186	94727186	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:94727186T>G	ENST00000283357.5	+	1	139	c.93T>G	c.(91-93)aaT>aaG	p.N31K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	31										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTACAAAAAATAAAGCTGGAA	0.318000													19	95					0	0	0.175082	0	0
MAP4	4134	broad.mit.edu	37	3	47894824	47894824	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:47894824C>T	ENST00000426837.2	-	20	6802	c.6715G>A	c.(6715-6717)Gag>Aag	p.E2239K	MAP4_ENST00000360240.6_Missense_Mutation_p.E1094K|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.E829K|MAP4_ENST00000383737.4_Missense_Mutation_p.E753K|MAP4_ENST00000420772.2_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	1094					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGAGGAGCCTCGCTGCCACCG	0.652000													3	46					0	0	0.115264	0	0
PHYH	5264	broad.mit.edu	37	10	13320329	13320329	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:13320329A>G	ENST00000396920.3	-	9	1342	c.938T>C	c.(937-939)cTt>cCt	p.L313P	PHYH_ENST00000396913.2_Missense_Mutation_p.L230P|PHYH_ENST00000263038.4_Missense_Mutation_p.L330P			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	330					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCCTTTCACAAGTCGAGCTCG	0.358000													15	128					0	0	0.146539	0	0
FBN1	2200	broad.mit.edu	37	15	48714204	48714204	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:48714204G>C	ENST00000316623.5	-	61	7970	c.7515C>G	c.(7513-7515)ggC>ggG	p.G2505G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2505	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGTGAAGCCGCCAATGGTGT	0.448000													4	70					0	0	0.150653	0	0
PTPN11	5781	broad.mit.edu	37	12	112884133	112884133	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:112884133G>A	ENST00000351677.2	+	2	266	c.68G>A	c.(67-69)aGa>aAa	p.R23K	PTPN11_ENST00000392597.1_Missense_Mutation_p.R23K	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	23	SH2 1.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTGTTGACAAGAGGAGTTGAT	0.398000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				6	135					0	0	0.248553	0	0
IQGAP2	10788	broad.mit.edu	37	5	75979011	75979011	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:75979011G>T	ENST00000274364.6	+	29	4029	c.3732G>T	c.(3730-3732)ctG>ctT	p.L1244L	IQGAP2_ENST00000379730.3_Silent_p.L746L|IQGAP2_ENST00000502745.1_Silent_p.L740L|IQGAP2_ENST00000396234.3_Silent_p.L740L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1244					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			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)		TGGGGTCGCTGGGAGAGGTGC	0.453000													13	68					0.000219431	0.000232395	0.119110	1	0
POLR3A	11128	broad.mit.edu	37	10	79769719	79769719	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:79769719A>G	ENST00000372371.3	-	13	1810	c.1673T>C	c.(1672-1674)tTc>tCc	p.F558S		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	558					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCGATCAAAGAAAGTGTCCTT	0.418000													14	45					0	0	0.105934	0	0
USP6	9098	broad.mit.edu	37	17	5039969	5039969	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:5039969G>C	ENST00000574788.1	+	18	2929	c.699G>C	c.(697-699)ggG>ggC	p.G233G	USP6_ENST00000250066.6_Silent_p.G233G|USP6_ENST00000332776.4_Silent_p.G233G|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	233	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGTCCAGGGGCTCCAAGACC	0.567000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								23	238					0	0	0.099896	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54893205	54893205	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:54893205T>C	ENST00000293373.6	+	2	248	c.169T>C	c.(169-171)Tat>Cat	p.Y57H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.Y7H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	57					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCTCTCAAGTATATCAACAA	0.408000													7	100					0	0	0.047766	0	0
HTR3C	170572	broad.mit.edu	37	3	183772531	183772531	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:183772531C>G	ENST00000318351.1	+	2	124	c.90C>G	c.(88-90)atC>atG	p.I30M		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	30						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTTTACCATCAATTGCTCAG	0.507000													11	141					0	0	0.080935	0	0
F8	2157	broad.mit.edu	37	X	154158595	154158595	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:154158595A>G	ENST00000360256.4	-	14	3670	c.3470T>C	c.(3469-3471)gTg>gCg	p.V1157A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1157	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGACCTTCCACAGATTTTTC	0.433000													16	100					0	0	0.146539	0	0
TNS1	7145	broad.mit.edu	37	2	218700917	218700917	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:218700917T>C	ENST00000171887.4	-	18	3102	c.2650A>G	c.(2650-2652)Aag>Gag	p.K884E	TNS1_ENST00000419504.1_Missense_Mutation_p.K884E|TNS1_ENST00000430930.1_Missense_Mutation_p.K884E	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	884						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCAGGCTGCTTCTCCCGAGCC	0.577000													10	51					0	0	0.069234	0	0
MYO1F	4542	broad.mit.edu	37	19	8615562	8615562	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:8615562A>T	ENST00000338257.8	-	9	1055	c.788T>A	c.(787-789)aTt>aAt	p.I263N		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	263	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGGATCCCAATAACCTGCAT	0.602000													8	85					0	0	0.278610	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954780	72954780	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:72954780G>C	ENST00000421285.3	+	11	1035	c.1035G>C	c.(1033-1035)atG>atC	p.M345I		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	345										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAGGAGATGCTCCGAGAGC	0.557000													124	141					0	0	0.139131	0	0
DHX15	1665	broad.mit.edu	37	4	24556553	24556553	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:24556553C>A	ENST00000336812.4	-	5	1031	c.875G>T	c.(874-876)aGc>aTc	p.S292I		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	292	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TAGAGTAGCGCTCATAACTAT	0.353000													12	87					6.40141e-05	6.83902e-05	0.080935	1	0
DNAH10	196385	broad.mit.edu	37	12	124345614	124345614	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:124345614G>C	ENST00000409039.3	+	38	6476	c.6451G>C	c.(6451-6453)Gaa>Caa	p.E2151Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2151	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGTGTCATAGAACTCTACGG	0.493000													6	44					0	0	0.217242	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671712	77671712	+	Missense_Mutation	SNP	G	G	T	rs143363601		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:77671712G>T	ENST00000407578.2	-	56	9843	c.9577C>A	c.(9577-9579)Ctt>Att	p.L3193I	MYCBP2_ENST00000544440.2_Missense_Mutation_p.L3155I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L3155I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ttctttttAAGAACTGCACAG	0.373000													6	75					0.0293803	0.0297711	0.248553	1	0
MYO9A	4649	broad.mit.edu	37	15	72338216	72338216	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:72338216T>A	ENST00000356056.5	-	2	1161	c.689A>T	c.(688-690)aAa>aTa	p.K230I	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K230I|MYO9A_ENST00000444904.1_Missense_Mutation_p.K230I|MYO9A_ENST00000564571.1_Missense_Mutation_p.K230I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	230	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGATTCTTTTTGCGCTGAAG	0.433000													48	67					0	0	0.139131	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087102	39087102	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:39087102C>A	ENST00000609713.1	-	3	947	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	KCNJ6_ENST00000288309.6_Missense_Mutation_p.D120Y	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGGTCCATGTCTCCCCGTATG	0.453000													15	142					8.60227e-14	1.01316e-13	0.146539	1	0
RALGAPB	57148	broad.mit.edu	37	20	37154634	37154634	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:37154634A>G	ENST00000262879.6	+	13	2283	c.1999A>G	c.(1999-2001)Ata>Gta	p.I667V	RALGAPB_ENST00000397040.1_Missense_Mutation_p.I667V|RALGAPB_ENST00000397042.3_Missense_Mutation_p.I667V|RALGAPB_ENST00000397038.1_Missense_Mutation_p.I445V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	667					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAATATATTAATAGGTGCCTT	0.373000													46	131					0	0	0.301197	0	0
TMEM131	23505	broad.mit.edu	37	2	98408996	98408996	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:98408996C>T	ENST00000186436.5	-	31	4225	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1333						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGGCACGTTCTGGGTGGGAA	0.647000													8	29					0	0	0.047766	0	0
VPS54	51542	broad.mit.edu	37	2	64189554	64189554	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:64189554C>A	ENST00000409558.4	-	7	766	c.612G>T	c.(610-612)gtG>gtT	p.V204V	VPS54_ENST00000272322.4_Silent_p.V216V|VPS54_ENST00000354504.3_Silent_p.V99V	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGTTTACTTCCACAATATCCA	0.378000													6	126					0.00198382	0.00205461	0.248553	1	0
KLRF1	51348	broad.mit.edu	37	12	9994918	9994918	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:9994918A>G	ENST00000279544.3	+	5	541		c.e5-1		KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Splice_Site	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1						cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						TCCACATTTTAGGCTTTTATA	0.353000													6	92					0	0	0.217242	0	0
USP39	10713	broad.mit.edu	37	2	85843586	85843586	+	Splice_Site	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:85843586G>C	ENST00000323701.6	+	1	278	c.268G>C	c.(268-270)Gca>Cca	p.A90P	USP39_ENST00000409470.1_Splice_Site_p.A90P|USP39_ENST00000459775.1_Intron|USP39_ENST00000409766.3_Splice_Site_p.A90P|USP39_ENST00000450066.2_Intron|USP39_ENST00000409025.1_Splice_Site_p.A90P	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	90	Arg-rich.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GGAGGTGCGAGGTGCGCGGGG	0.667000													3	34					0	0	0.115264	0	0
PANK4	55229	broad.mit.edu	37	1	2452165	2452165	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:2452165C>T	ENST00000378466.3	-	4	615	c.603G>A	c.(601-603)gtG>gtA	p.V201V	PANK4_ENST00000435556.3_Silent_p.V162V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	201					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTCTTACCTTCACGATGGAGA	0.527000													9	101					0	0	0.058154	0	0
MFI2	4241	broad.mit.edu	37	3	196735753	196735753	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:196735753C>G	ENST00000296350.5	-	12	1722	c.1609G>C	c.(1609-1611)Ggg>Cgg	p.G537R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	537	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGCTCGTCCCCCACGCACAGT	0.647000													9	173					0	0	0.069234	0	0
PRB2	653247	broad.mit.edu	37	12	11546725	11546725	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:11546725C>A	ENST00000389362.4	-	3	322	c.287G>T	c.(286-288)gGa>gTa	p.G96V	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.612000													7	731					0.000219431	0.000232395	0.119110	1	0
ITIH6	347365	broad.mit.edu	37	X	54784821	54784821	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:54784821G>A	ENST00000218436.6	-	8	1715	c.1686C>T	c.(1684-1686)cgC>cgT	p.R562R		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	562					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGCCCAGAGGCGGCGGATGA	0.602000													10	6					0	0	0.069234	0	0
FBXO34	55030	broad.mit.edu	37	14	55817477	55817477	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:55817477T>A	ENST00000313833.4	+	2	614	c.369T>A	c.(367-369)ttT>ttA	p.F123L	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.F123L	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	123										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCATTCTTTGCATCCCACC	0.428000													5	51					0	0	0.217242	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540295	96540295	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:96540295C>T	ENST00000371321.3	+	4	603	c.521C>T	c.(520-522)cCc>cTc	p.P174L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	174					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCTGTGCTCCCTGCAATGTG	0.333000													32	233					0	0	0.163468	0	0
NR4A3	8013	broad.mit.edu	37	9	102590791	102590791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:102590791G>A	ENST00000330847.1	+	2	544	c.500G>A	c.(499-501)tGg>tAg	p.W167*	NR4A3_ENST00000395097.2_Nonsense_Mutation_p.W156*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.W156*			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	156					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGGGCGTTATGGGACGAGGCA	0.746000			T	EWSR1	extraskeletal myxoid chondrosarcoma								3	55					0	0	0.115264	0	0
DMXL1	1657	broad.mit.edu	37	5	118485222	118485222	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:118485222G>A	ENST00000311085.8	+	18	3780	c.3700G>A	c.(3700-3702)Gaa>Aaa	p.E1234K	DMXL1_ENST00000539542.1_Missense_Mutation_p.E1234K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1234										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGGACTGTGAAATGCATGT	0.433000													19	116					0	0	0.189662	0	0
CDH18	1016	broad.mit.edu	37	5	19838904	19838904	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:19838904T>A	ENST00000507958.1	-	5	1182	c.192A>T	c.(190-192)gaA>gaT	p.E64D	CDH18_ENST00000274170.4_Missense_Mutation_p.E64D|CDH18_ENST00000511273.1_Missense_Mutation_p.E64D|CDH18_ENST00000502796.1_Missense_Mutation_p.E64D|CDH18_ENST00000506372.1_Missense_Mutation_p.E64D|CDH18_ENST00000382275.1_Missense_Mutation_p.E64D			Q13634	CAD18_HUMAN	cadherin 18, type 2	64	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCATATGTTCTTCTAAAACAA	0.393000													11	94					0	0	0.080935	0	0
KIF21A	55605	broad.mit.edu	37	12	39756904	39756904	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:39756904T>C	ENST00000395670.3	-	7	1434	c.1015A>G	c.(1015-1017)Aat>Gat	p.N339D	KIF21A_ENST00000541463.2_Missense_Mutation_p.N339D|KIF21A_ENST00000361418.5_Missense_Mutation_p.N339D|KIF21A_ENST00000361961.3_Missense_Mutation_p.N339D|KIF21A_ENST00000544797.2_Missense_Mutation_p.N339D			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	339					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCATACCTATTACCCCCGAGG	0.378000													7	81					0	0	0.248553	0	0
AMER3	205147	broad.mit.edu	37	2	131519993	131519993	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:131519993C>A	ENST00000423981.1	+	2	458	c.348C>A	c.(346-348)agC>agA	p.S116R	AMER3_ENST00000321420.4_Missense_Mutation_p.S116R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCAGTGCAAGCTTCCCGGGCT	0.647000													6	50					0.00116845	0.00121634	0.217242	1	0
EPHA6	285220	broad.mit.edu	37	3	96963131	96963131	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:96963131G>T	ENST00000470610.2	+	5	1649	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	EPHA6_ENST00000389672.5_Splice_Site_p.A536S			Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGATCAAGATGGTAAGTTCCA	0.398000													15	113					0.000308642	0.000325462	0.132662	1	0
SALL3	27164	broad.mit.edu	37	18	76754424	76754424	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:76754424G>A	ENST00000536229.3	+	1	2743	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L	SALL3_ENST00000537592.2_Silent_p.L811L|SALL3_ENST00000575389.2_Silent_p.L811L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCTGAGCTGAAGGACGCGG	0.662000													5	44					0	0	0.184627	0	0
PPL	5493	broad.mit.edu	37	16	4935829	4935829	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:4935829C>T	ENST00000345988.2	-	22	2916	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	PPL_ENST00000590782.2_Missense_Mutation_p.D941N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	943					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCACGGGATCCGGCACCTTC	0.607000													24	208					0	0	0.279207	0	0
ZNF534	147658	broad.mit.edu	37	19	52941594	52941594	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:52941594G>C	ENST00000332323.6	+	4	981	c.920G>C	c.(919-921)gGa>gCa	p.G307A	ZNF534_ENST00000433050.1_Missense_Mutation_p.G294A|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATTCATACTGGAGAGAAGCCT	0.388000													4	31					0	0	0.184627	0	0
ESRRB	2103	broad.mit.edu	37	14	76928979	76928979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:76928979C>A	ENST00000380887.2	+	3	561	c.489C>A	c.(487-489)tgC>tgA	p.C163*	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Nonsense_Mutation_p.C163*|ESRRB_ENST00000509242.1_Nonsense_Mutation_p.C163*|ESRRB_ENST00000261532.7_Nonsense_Mutation_p.C163*			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCATGAAATGCCTCAAAGTGG	0.582000													13	113					0.000219431	0.000232395	0.119110	1	0
KRT35	3886	broad.mit.edu	37	17	39635096	39635096	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:39635096A>G	ENST00000246639.2	-	4	905	c.773T>C	c.(772-774)tTg>tCg	p.L258S	KRT35_ENST00000393989.1_Missense_Mutation_p.L288S			Q92764	KRT35_HUMAN	keratin 35	288	Linker 12.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGGGTGTCCAACCAGTCTTC	0.537000													9	114					0	0	0.047766	0	0
ZWINT	11130	broad.mit.edu	37	10	58119295	58119295	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:58119295T>C	ENST00000373944.3	-	5	462		c.e5-2		ZWINT_ENST00000460654.1_Splice_Site|ZWINT_ENST00000395405.1_Splice_Site|ZWINT_ENST00000361148.6_Splice_Site|ZWINT_ENST00000318387.2_Splice_Site			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CATTTGTTTCTACAGATAAGC	0.483000													9	81					0	0	0.047766	0	0
PLCL2	23228	broad.mit.edu	37	3	17053297	17053297	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:17053297A>G	ENST00000418129.2	+	2	2546	c.2081A>G	c.(2080-2082)aAc>aGc	p.N694S	PLCL2_ENST00000396755.2_Missense_Mutation_p.N694S|PLCL2_ENST00000432376.1_Missense_Mutation_p.N694S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	820	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTTCAAATCAACCTGCCTGAA	0.443000													12	98					0	0	0.080935	0	0
CPA3	1359	broad.mit.edu	37	3	148583274	148583274	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:148583274G>A	ENST00000296046.3	+	2	135	c.83G>A	c.(82-84)cGc>cAc	p.R28H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	28					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAGGTGTTCCGCGTGAAGCCC	0.393000													9	84					0	0	0.058154	0	0
SPRED1	161742	broad.mit.edu	37	15	38643577	38643577	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:38643577G>T	ENST00000299084.4	+	7	1907	c.1047G>T	c.(1045-1047)agG>agT	p.R349S		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	349	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAAATGTTAGGGGAAAATGTC	0.388000									Legius syndrome				28	123					1.7367e-05	1.88014e-05	0.116897	1	0
PANK4	55229	broad.mit.edu	37	1	2447127	2447127	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:2447127C>T	ENST00000378466.3	-	10	1260	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PANK4_ENST00000435556.3_Silent_p.E377E	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	416					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAGTGGCCTCTCCAGCCGGT	0.602000													13	66					0	0	0.132662	0	0
NCOA5	57727	broad.mit.edu	37	20	44691998	44691998	+	Splice_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:44691998C>A	ENST00000290231.6	-	7	1315		c.e7+1			NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5						regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACGTAGCTCACCAGGCAGAGA	0.577000													8	40					0.000274275	0.000289473	0.047766	1	0
ACAD9	28976	broad.mit.edu	37	3	128612493	128612493	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:128612493G>A	ENST00000308982.7	+	3	421	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	114						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTCCCAGAAGAATATGGTAA	0.448000													5	48					0	0	0.217242	0	0
HNRNPL	3191	broad.mit.edu	37	19	39329039	39329039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:39329039C>A	ENST00000221419.5	-	10	1921	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*	AC104534.3_ENST00000594769.1_Missense_Mutation_p.L135F|HNRNPL_ENST00000600873.1_Nonsense_Mutation_p.E386*	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	519					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCACACACCTCAAAGAAGTTC	0.587000													6	52					0.00448238	0.00461488	0.047766	1	0
IRAK2	3656	broad.mit.edu	37	3	10276251	10276251	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:10276251A>G	ENST00000256458.4	+	11	1471	c.1381A>G	c.(1381-1383)Aag>Gag	p.K461E		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	461	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTACCTGGAGAAGGGCGCAGG	0.642000													11	149					0	0	0.105934	0	0
SLC6A2	6530	broad.mit.edu	37	16	55732416	55732416	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:55732416T>G	ENST00000379906.2	+	10	1680	c.1425T>G	c.(1423-1425)ttT>ttG	p.F475L	SLC6A2_ENST00000568943.1_Missense_Mutation_p.F475L|SLC6A2_ENST00000219833.8_Missense_Mutation_p.F475L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.F475L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.F475L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.F370L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.F430L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	475					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGACACCTTTGCTGCGGGCA	0.522000													9	66					0	0	0.058154	0	0
C2orf16	84226	broad.mit.edu	37	2	27800754	27800754	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:27800754G>C	ENST00000408964.2	+	1	1366	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	439										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCTCACCTCTGAGGCACGGCA	0.473000													30	107					0	0	0.134883	0	0
IGSF1	3547	broad.mit.edu	37	X	130408614	130408614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:130408614C>T	ENST00000370904.1	-	24	4593	c.3683G>A	c.(3682-3684)tGg>tAg	p.W1228*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W1242*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W1237*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W1228*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1237	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGGCTCTGACCAGATATCAGG	0.532000													62	83					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179600440	179600440	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:179600440T>A	ENST00000589042.1	-	50	14957	c.14733A>T	c.(14731-14733)gtA>gtT	p.V4911V	TTN_ENST00000342992.6_Silent_p.V3667V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.V4594V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4594	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTCATCTACTTGGCACT	0.413000													9	56					0	0	0.069234	0	0
TCF21	6943	broad.mit.edu	37	6	134212881	134212881	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:134212881G>C	ENST00000367882.4	+	2	741	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	TCF21_ENST00000237316.3_Missense_Mutation_p.E161Q|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CGGGAAACCCGAGAGTGACCT	0.657000													6	61					0	0	0.248553	0	0
CCDC40	55036	broad.mit.edu	37	17	78073541	78073541	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:78073541C>T	ENST00000397545.4	+	20	3423	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1132					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCCAGATGATCGCCAACAAGC	0.622000													6	35					0	0	0.217242	0	0
SLC6A2	6530	broad.mit.edu	37	16	55732412	55732412	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:55732412C>A	ENST00000379906.2	+	10	1676	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N	SLC6A2_ENST00000568943.1_Missense_Mutation_p.T474N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T474N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.T474N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T474N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.T369N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T429N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	474					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTCCTGGACACCTTTGCTGCG	0.522000													10	62					1.58986e-06	1.76507e-06	0.069234	1	0
CDH17	1015	broad.mit.edu	37	8	95186372	95186372	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:95186372G>C	ENST00000027335.3	-	6	665	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	CDH17_ENST00000450165.2_Missense_Mutation_p.Q181E|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	181	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGTTGATCTGAAAGTACATG	0.493000													32	248					0	0	0.163468	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236232	140236232	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140236232A>G	ENST00000307360.5	+	1	599	c.599A>G	c.(598-600)gAt>gGt	p.D200G	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D200G|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGCTGGATCGTGAAGAA	0.393000													5	140					0	0	0.184627	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577003	90577003	+	RNA	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:90577003G>C	ENST00000551025.1	+	0	5431							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAACTGTACTGAAAAAAGTGA	0.393000													4	44					0	0	0.150653	0	0
CERKL	375298	broad.mit.edu	37	2	182412390	182412390	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:182412390G>A	ENST00000410087.3	-	10	1323	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	CERKL_ENST00000374970.2_Missense_Mutation_p.P339L|CERKL_ENST00000374969.2_Missense_Mutation_p.P295L|CERKL_ENST00000339098.5_Missense_Mutation_p.P434L|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.P390L	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	434					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.P408L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACACAGGCAAGGAATTGCCAT	0.373000													8	125					0	0	0.278610	0	0
USP39	10713	broad.mit.edu	37	2	85843587	85843587	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:85843587G>A	ENST00000323701.6	+	1	278		c.e1+1		USP39_ENST00000409470.1_Splice_Site|USP39_ENST00000459775.1_Intron|USP39_ENST00000409766.3_Splice_Site|USP39_ENST00000450066.2_Intron|USP39_ENST00000409025.1_Splice_Site	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39						spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAGGTGCGAGGTGCGCGGGGC	0.667000													3	35					0	0	0.115264	0	0
TMEM255B	348013	broad.mit.edu	37	13	114469135	114469135	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:114469135C>G	ENST00000375353.3	+	2	121	c.94C>G	c.(94-96)Ctg>Gtg	p.L32V		NM_182614.2	NP_872420.1			transmembrane protein 255B																		TGTGGGGTCTCTGCTGCTGGT	0.617000													21	127					0	0	0.219247	0	0
WDR78	79819	broad.mit.edu	37	1	67288098	67288098	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:67288098T>A	ENST00000371026.3	-	16	2497	c.2442A>T	c.(2440-2442)ggA>ggT	p.G814G	WDR78_ENST00000431318.1_Silent_p.G527G	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	814										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGAAACCTGTCCATCACTGT	0.398000													17	135					0	0	0.160694	0	0
AADACL3	126767	broad.mit.edu	37	1	12785919	12785919	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:12785919A>T	ENST00000332530.3	+	3	1025	c.799A>T	c.(799-801)Atg>Ttg	p.M267L	AADACL3_ENST00000359318.5_Missense_Mutation_p.M337L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	337							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGCTCCATGAGAATTCT	0.517000													9	60					0	0	0.080935	0	0
TANC2	26115	broad.mit.edu	37	17	61432552	61432552	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:61432552G>C	ENST00000424789.2	+	12	2165	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q	TANC2_ENST00000389520.4_Missense_Mutation_p.E721Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	721							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACTGACTGATGAGCATATCTT	0.493000													8	69					0	0	0.047766	0	0
TTC39B	158219	broad.mit.edu	37	9	15182308	15182308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:15182308G>A	ENST00000512701.2	-	17	1756	c.1720C>T	c.(1720-1722)Caa>Taa	p.Q574*	TTC39B_ENST00000380850.4_Nonsense_Mutation_p.Q561*|TTC39B_ENST00000507993.1_Nonsense_Mutation_p.Q409*|TTC39B_ENST00000297615.5_Nonsense_Mutation_p.Q505*|TTC39B_ENST00000355694.2_Nonsense_Mutation_p.Q508*|TTC39B_ENST00000507285.1_Nonsense_Mutation_p.Q409*			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B								binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TACTTACTTTGACTTTGTAAA	0.403000													12	75					0	0	0.093190	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662558	160662558	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:160662558G>A	ENST00000366953.3	-	9	1707	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	483					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGTAGACCAGGAATGGCGTGA	0.423000													3	35					0	0	0.115264	0	0
OR5K3	403277	broad.mit.edu	37	3	98109699	98109699	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:98109699G>T	ENST00000383695.1	+	1	190	c.190G>T	c.(190-192)Ggc>Tgc	p.G64C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CATATTTTTAGGCAACCTAGT	0.408000													45	468					3.4345e-17	4.08454e-17	0.301197	1	0
WASF1	8936	broad.mit.edu	37	6	110424744	110424744	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:110424744C>A	ENST00000392589.1	-	9	1566	c.730G>T	c.(730-732)Gat>Tat	p.D244Y	WASF1_ENST00000359451.2_Missense_Mutation_p.D244Y|WASF1_ENST00000392587.2_Missense_Mutation_p.D244Y|WASF1_ENST00000392588.1_Missense_Mutation_p.D244Y|WASF1_ENST00000392586.1_Missense_Mutation_p.D244Y	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	244					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TCCATATGATCCACGTATGTC	0.363000													7	84					2.7689e-08	3.16038e-08	0.248553	1	0
ZNF628	89887	broad.mit.edu	37	19	55994258	55994258	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:55994258C>G	ENST00000391718.2	+	3	2251	c.1686C>G	c.(1684-1686)caC>caG	p.H562Q	ZNF628_ENST00000598519.1_Missense_Mutation_p.H566Q	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	562						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGAGGCCCCACGCCTGCGGTG	0.726000													7	39					0	0	0.248553	0	0
RIF1	55183	broad.mit.edu	37	2	152321490	152321490	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:152321490A>G	ENST00000243326.5	+	29	5939	c.5456A>G	c.(5455-5457)aAa>aGa	p.K1819R	RIF1_ENST00000453091.2_Missense_Mutation_p.K1819R|RIF1_ENST00000428287.2_Missense_Mutation_p.K1819R|RIF1_ENST00000444746.2_Missense_Mutation_p.K1819R|RIF1_ENST00000430328.2_Missense_Mutation_p.K1819R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACCAAATCAAAAGAAAACACT	0.313000													10	114					0	0	0.069234	0	0
TUBA4B	80086	broad.mit.edu	37	2	220135943	220135943	+	RNA	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:220135943G>T	ENST00000490341.1	+	0	413					NR_003063.1																						CTTGGTCGGGGCACTGGCTCT	0.572000													3	24					0.115264	0.116025	0.115264	1	0
EDC3	80153	broad.mit.edu	37	15	74948410	74948410	+	Splice_Site	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:74948410C>A	ENST00000315127.4	-	4	666		c.e4-1		EDC3_ENST00000426797.3_Splice_Site|EDC3_ENST00000568176.1_Splice_Site	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTAGATGACCCTGGAGAAAAA	0.433000													10	50					6.40141e-05	6.83902e-05	0.080935	1	0
LTBP4	8425	broad.mit.edu	37	19	41105337	41105337	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:41105337G>T	ENST00000308370.7	+	3	216	c.216G>T	c.(214-216)agG>agT	p.R72S	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R35S|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	72					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTCTGCAGGGTCCGAAGCT	0.617000											OREG0025473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	161					6.33239e-15	7.50893e-15	0.219247	1	0
TCHH	7062	broad.mit.edu	37	1	152084999	152084999	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:152084999C>T	ENST00000368804.1	-	2	693	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	232					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGCCGCTCTCGCCTTTGC	0.572000													25	453					0	0	0.264190	0	0
HECTD1	25831	broad.mit.edu	37	14	31597902	31597902	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:31597902T>C	ENST00000399332.1	-	25	5163	c.4675A>G	c.(4675-4677)Aat>Gat	p.N1559D	HECTD1_ENST00000553700.1_Missense_Mutation_p.N1559D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1559	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.N1559H(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCGTGGCATTAGTCCGTGCT	0.458000													8	53					0	0	0.047766	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987031	36987031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:36987031C>A	ENST00000518149.1	-	3	1173	c.568G>T	c.(568-570)Gag>Tag	p.E190*	NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.E220*|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Nonsense_Mutation_p.E190*|NKX2-1_ENST00000498187.2_Nonsense_Mutation_p.E190*			P43699	NKX21_HUMAN	NK2 homeobox 1	190					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCGCGCTCCGGCGCCGAC	0.637000			A		NSCLC								5	18					0.000602214	0.00063067	0.184627	1	0
FAT2	2196	broad.mit.edu	37	5	150897310	150897310	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:150897310G>A	ENST00000261800.5	-	19	11346	c.11334C>T	c.(11332-11334)ttC>ttT	p.F3778F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3778	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGACCACTGAACCTTGTAG	0.493000													5	70					0	0	0.184627	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077545	23077545	+	RNA	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:23077545T>C	ENST00000390310.2	+	0	335																											GGCTGATTATTACTGCAGCTT	0.587000													26	174					0	0	0.099896	0	0
MLLT6	4302	broad.mit.edu	37	17	36863262	36863262	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:36863262C>G	ENST00000325718.7	+	2	260	c.169C>G	c.(169-171)Cag>Gag	p.Q57E	MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.Q57E	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	57					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ATGTGAATCTCAGGAGCGAGC	0.612000			T	MLL	AL								17	36					0	0	0.219247	0	0
MYH9	4627	broad.mit.edu	37	22	36680254	36680254	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:36680254C>G	ENST00000216181.5	-	40	5880	c.5650G>C	c.(5650-5652)Gag>Cag	p.E1884Q	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1884					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTCCTCTTCGGCCTCC	0.687000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	38					0	0	0.150653	0	0
WDFY2	115825	broad.mit.edu	37	13	52158916	52158916	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:52158916G>C	ENST00000298125.5	+	1	273	c.93G>C	c.(91-93)gtG>gtC	p.V31V		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	31							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		ATATGGCCGTGATCGTGCCCA	0.672000											OREG0022422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	33					0	0	0.217242	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962625	41962625	+	RNA	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:41962625C>T	ENST00000454645.1	-	0	879					NR_003670.1																						TTACAGGAATCCCCTTTTGAT	0.358000													7	67					0	0	0.278610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190143	233190143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:233190143C>A	ENST00000258229.9	-	25	4456	c.4222G>T	c.(4222-4224)Gga>Tga	p.G1408*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.G60*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCCAACGTCCAAGAACTAAG	0.438000													17	23					1.5739e-10	1.81856e-10	0.146539	1	0
XIRP2	129446	broad.mit.edu	37	2	168100156	168100156	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:168100156C>G	ENST00000409195.1	+	9	2343	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L530V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L752V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	577					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGCCAAATGCTGGAAATTAA	0.368000													10	81					0	0	0.069234	0	0
SMOX	54498	broad.mit.edu	37	20	4162551	4162551	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:4162551C>T	ENST00000305958.4	+	4	762	c.537C>T	c.(535-537)cgC>cgT	p.R179R	SMOX_ENST00000379460.2_Silent_p.R179R|SMOX_ENST00000278795.3_Silent_p.R179R|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Silent_p.R179R	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	179					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGCGTAACCGCATCAGGAATG	0.537000													11	69					0	0	0.069234	0	0
MYT1L	23040	broad.mit.edu	37	2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	328					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAAACACTCCAGACTGCTC	0.512000													11	110					4.68919e-08	5.32723e-08	0.069234	1	0
TMC5	79838	broad.mit.edu	37	16	19475233	19475233	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:19475233A>T	ENST00000396229.2	+	8	2121	c.1372A>T	c.(1372-1374)Aag>Tag	p.K458*	TMC5_ENST00000542583.2_Nonsense_Mutation_p.K458*|TMC5_ENST00000381414.4_Nonsense_Mutation_p.K458*|TMC5_ENST00000219821.5_Nonsense_Mutation_p.K212*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.K458*|TMC5_ENST00000564959.1_Nonsense_Mutation_p.K141*|TMC5_ENST00000561503.1_Nonsense_Mutation_p.K99*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	458						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATGGCTTTTGAAGTTCAACAT	0.453000													21	73					0	0	0.249174	0	0
TGFB1	7040	broad.mit.edu	37	19	41847819	41847819	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:41847819G>A	ENST00000221930.5	-	5	1695	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	277					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGGGCTCGGCGGTGCCGGGAG	0.627000													4	59					0	0	0.150653	0	0
GUSB	2990	broad.mit.edu	37	7	65439672	65439672	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:65439672T>C	ENST00000304895.4	-	7	1215	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G	GUSB_ENST00000345660.6_Missense_Mutation_p.D311G|GUSB_ENST00000421103.1_Missense_Mutation_p.D216G	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	362			D -> N (in MPS7).|Missing (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGCGGCCAGTCGAAGCCCTT	0.592000													12	105					0	0	0.080935	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668309	43668309	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:43668309T>C	ENST00000564079.1	+	2	332	c.92T>C	c.(91-93)tTc>tCc	p.F31S	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.F31S	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	31					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCGCAGGACTTCCCTTTCCTC	0.527000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	273					0	0	0.217242	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997538	19997538	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:19997538C>G	ENST00000391403.2	-	1	340	c.237G>C	c.(235-237)gaG>gaC	p.E79D		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	79						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)					TTAAAGATGACTCTACTTCAT	0.383000													30	251					0	0	0.125774	0	0
CCT6A	908	broad.mit.edu	37	7	56123351	56123351	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:56123351A>T	ENST00000275603.4	+	4	590	c.371A>T	c.(370-372)gAa>gTa	p.E124V	CCT6A_ENST00000335503.3_Missense_Mutation_p.E79V|CCT6A_ENST00000540286.1_Missense_Mutation_p.E93V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	124					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAGGATTTGAAGCTGCAAAG	0.393000													11	69					0	0	0.069234	0	0
MIOS	54468	broad.mit.edu	37	7	7628184	7628184	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:7628184G>T	ENST00000340080.4	+	8	2295	c.1874G>T	c.(1873-1875)aGt>aTt	p.S625I	MIOS_ENST00000405785.1_Missense_Mutation_p.S625I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	625										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATTCCTTAGTGATACTCAG	0.338000													8	91					5.18039e-06	5.69937e-06	0.278610	1	0
WFS1	7466	broad.mit.edu	37	4	6296891	6296891	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:6296891C>T	ENST00000226760.1	+	7	1006	c.836C>T	c.(835-837)cCt>cTt	p.P279L	WFS1_ENST00000503569.1_Missense_Mutation_p.P279L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	279					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGGAAGAGCCCTGAGGACCTG	0.622000													11	61					0	0	0.080935	0	0
EXPH5	23086	broad.mit.edu	37	11	108381331	108381331	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:108381331C>G	ENST00000265843.4	-	6	5013	c.4903G>C	c.(4903-4905)Ggc>Cgc	p.G1635R	EXPH5_ENST00000428840.1_Missense_Mutation_p.G1559R|EXPH5_ENST00000525344.1_Missense_Mutation_p.G1628R|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1447R	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1635					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCACTGTGCCAAGAGATAAA	0.478000													15	145					0	0	0.132662	0	0
MSH6	2956	broad.mit.edu	37	2	48026935	48026935	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:48026935A>T	ENST00000234420.5	+	4	1965	c.1813A>T	c.(1813-1815)Act>Tct	p.T605S	MSH6_ENST00000540021.1_Missense_Mutation_p.T475S|MSH6_ENST00000538136.1_Missense_Mutation_p.T303S|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCAAAGGAAACTAAAACAAT	0.408000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	190					0	0	0.217242	0	0
COL4A1	1282	broad.mit.edu	37	13	110862504	110862504	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:110862504C>G	ENST00000375820.4	-	9	645	c.524G>C	c.(523-525)aGa>aCa	p.R175T	COL4A1_ENST00000543140.1_Missense_Mutation_p.R175T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	175	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.R175T(2)|p.R166T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAAATCCTCTTTCACCTTT	0.453000													4	97					0	0	0.150653	0	0
ZNF28	7576	broad.mit.edu	37	19	53303993	53303993	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:53303993T>A	ENST00000438150.2	-	2	1839	c.946A>T	c.(946-948)Acc>Tcc	p.T316S	ZNF28_ENST00000414252.2_Missense_Mutation_p.T316S|ZNF28_ENST00000360272.4_Missense_Mutation_p.T316S|ZNF28_ENST00000457749.2_Missense_Mutation_p.T369S			P17035	ZNF28_HUMAN	zinc finger protein 28	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CGTGCAAGGGTTGACAGTCGA	0.368000													18	198					0	0	0.175082	0	0
CYTH4	27128	broad.mit.edu	37	22	37707551	37707551	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:37707551G>C	ENST00000248901.6	+	11	1127	c.940G>C	c.(940-942)Gat>Cat	p.D314H		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	314	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCAGAAGGTGGATGACCCCAA	0.567000													4	46					0	0	0.184627	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394333	233394333	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:233394333C>T	ENST00000258229.9	-	5	1509	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAATTGAGATCTGCTCGGCAT	0.582000													11	162					0	0	0.080935	0	0
THADA	63892	broad.mit.edu	37	2	43805724	43805724	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:43805724C>G	ENST00000403856.1	-	10	891	c.744G>C	c.(742-744)caG>caC	p.Q248H	THADA_ENST00000402360.2_Missense_Mutation_p.Q248H|THADA_ENST00000405006.4_Missense_Mutation_p.Q248H|THADA_ENST00000405975.2_Missense_Mutation_p.Q248H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.Q248H			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	248							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATGTGCTCTGTACAGTCT	0.358000													5	54					0	0	0.184627	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574115	140574115	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140574115G>C	ENST00000239446.4	+	1	2174	c.1990G>C	c.(1990-1992)Gac>Cac	p.D664H		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		664	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.D664N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGGTGGACGGCTTCTC	0.701000													40	104					0	0	0.279185	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058604	46058604	+	Silent	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:46058604G>C	ENST00000536708.2	+	13	1543	c.1434G>C	c.(1432-1434)ctG>ctC	p.L478L	CDK5RAP3_ENST00000338399.4_Silent_p.L453L|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	453					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGAAAGAGCTGATGGTGCAGA	0.572000													4	65					0	0	0.150653	0	0
LGR4	55366	broad.mit.edu	37	11	27390325	27390325	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:27390325C>G	ENST00000379214.4	-	18	2388	c.1945G>C	c.(1945-1947)Gat>Cat	p.D649H	LGR4_ENST00000389858.4_Missense_Mutation_p.D625H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	649						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTCATTATATCTTTTGCAGAT	0.423000													25	103					0	0	0.279207	0	0
MED17	9440	broad.mit.edu	37	11	93540688	93540688	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:93540688A>G	ENST00000251871.3	+	10	1758	c.1471A>G	c.(1471-1473)Att>Gtt	p.I491V	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	491					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATAAAGGTCCATTCAACTGCA	0.303000													7	82					0	0	0.278610	0	0
SLC35G6	643664	broad.mit.edu	37	17	7385834	7385834	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7385834C>G	ENST00000412468.2	+	2	646	c.531C>G	c.(529-531)ctC>ctG	p.L177L	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	177						integral to membrane											GACCTGGACTCTGGACACTAC	0.597000													7	271					0	0	0.248553	0	0
PIP	5304	broad.mit.edu	37	7	142836199	142836199	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:142836199T>C	ENST00000291009.3	+	3	273	c.233T>C	c.(232-234)cTa>cCa	p.L78P		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	78						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGCATCCCTCTACAAGGTGCA	0.423000													10	108					0	0	0.093190	0	0
ITGA8	8516	broad.mit.edu	37	10	15634296	15634296	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:15634296A>T	ENST00000378076.3	-	22	2572	c.2219T>A	c.(2218-2220)cTg>cAg	p.L740Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	740					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCGGAGGCCCAGGGAATACTA	0.378000													4	72					0	0	0.184627	0	0
COMP	1311	broad.mit.edu	37	19	18895151	18895151	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:18895151G>T	ENST00000542601.2	-	16	2227	c.1838C>A	c.(1837-1839)cCc>cAc	p.P613H	COMP_ENST00000222271.2_Missense_Mutation_p.P646H|COMP_ENST00000425807.1_Missense_Mutation_p.P593H			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	646	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGTTCCCCGGGGCCTGTGGA	0.617000													6	63					3.59834e-05	3.87489e-05	0.217242	1	0
ARNTL	406	broad.mit.edu	37	11	13402716	13402716	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:13402716G>A	ENST00000401424.1	+	18	1929	c.1403G>A	c.(1402-1404)gGg>gAg	p.G468E	ARNTL_ENST00000396441.3_Missense_Mutation_p.G510E|ARNTL_ENST00000403510.3_Missense_Mutation_p.G467E|ARNTL_ENST00000403482.3_Missense_Mutation_p.G509E|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.G510E|ARNTL_ENST00000403290.1_Missense_Mutation_p.G511E|ARNTL_ENST00000361003.4_Missense_Mutation_p.G393E	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	511					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGGATAAGAGGGTCATCGCCT	0.473000													14	105					0	0	0.105934	0	0
AMER3	205147	broad.mit.edu	37	2	131521381	131521381	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:131521381C>A	ENST00000423981.1	+	2	1846	c.1736C>A	c.(1735-1737)gCc>gAc	p.A579D	AMER3_ENST00000321420.4_Missense_Mutation_p.A579D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGCCTGCTCGCCGGAGAGAGC	0.667000													23	85					1.10513e-12	1.2941e-12	0.249174	1	0
MUC17	140453	broad.mit.edu	37	7	100685009	100685009	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100685009T>A	ENST00000306151.4	+	3	10376	c.10312T>A	c.(10312-10314)Tca>Aca	p.S3438T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3438	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAAGCCAGTTCATCTCCTAC	0.517000													43	505					0	0	0.257332	0	0
LRCH3	84859	broad.mit.edu	37	3	197541808	197541808	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:197541808C>G	ENST00000438796.2	+	2	336	c.292C>G	c.(292-294)Cct>Gct	p.P98A	LRCH3_ENST00000334859.4_Missense_Mutation_p.P98A|LRCH3_ENST00000414675.2_Missense_Mutation_p.P98A|LRCH3_ENST00000425562.2_Missense_Mutation_p.P98A|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	98						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TTCAGAAATTCCTATAGAAGC	0.318000													8	61					0	0	0.058154	0	0
ZNF812	729648	broad.mit.edu	37	19	9801026	9801026	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9801026C>T	ENST00000457674.2	-	5	1671	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCCTTTCTTCATGGTGAGTT	0.393000													18	98					0	0	0.160694	0	0
FSD2	123722	broad.mit.edu	37	15	83456124	83456124	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:83456124C>T	ENST00000334574.8	-	2	200	c.19G>A	c.(19-21)Gag>Aag	p.E7K	FSD2_ENST00000541889.1_Missense_Mutation_p.E7K			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	7										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCCAGTTCCTCCCCCGATTCC	0.478000													14	83					0	0	0.146539	0	0
LRRK2	120892	broad.mit.edu	37	12	40742271	40742271	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:40742271G>A	ENST00000298910.7	+	43	6399	c.6341G>A	c.(6340-6342)tGt>tAt	p.C2114Y		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2114	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)				ATTAAACAGTGTTTGAAAGAA	0.313000													13	40					0	0	0.132662	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													13	63					0	0	0.093190	0	0
LYNX1	66004	broad.mit.edu	37	8	143856782	143856782	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:143856782C>T	ENST00000398906.1	-	4	539		c.e4-1		LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000395192.2_Splice_Site|LYNX1_ENST00000523332.1_Splice_Site|LYNX1_ENST00000345173.6_Splice_Site	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1							extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGTGTAGTCTGCAGAGGGG	0.657000													9	49					0	0	0.069234	0	0
CD109	135228	broad.mit.edu	37	6	74407140	74407140	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:74407140C>T	ENST00000437994.2	+	2	523	c.92C>T	c.(91-93)aCa>aTa	p.T31I	CD109_ENST00000287097.5_Missense_Mutation_p.T31I|CD109_ENST00000422508.2_Missense_Mutation_p.T31I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	31						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCTGGTGACAGCCCCAGGG	0.512000													12	97					0	0	0.080935	0	0
FAT4	79633	broad.mit.edu	37	4	126371954	126371954	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:126371954G>A	ENST00000394329.3	+	9	9796	c.9783G>A	c.(9781-9783)aaG>aaA	p.K3261K	FAT4_ENST00000335110.5_Silent_p.K1559K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3261	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGAAACCAAGCAGAGCTACC	0.413000													9	66					0	0	0.047766	0	0
OR6K2	81448	broad.mit.edu	37	1	158670125	158670125	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:158670125G>T	ENST00000359610.2	-	1	361	c.318C>A	c.(316-318)acC>acA	p.T106T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T106T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CACAGATGCCGGTGGAATGGA	0.483000													15	56					0.000219431	0.000232395	0.119110	1	0
DIP2C	22982	broad.mit.edu	37	10	332258	332258	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:332258G>T	ENST00000280886.6	-	34	4161	c.4074C>A	c.(4072-4074)gcC>gcA	p.A1358A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1358						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTTCTGGGTTGGCAATTATAA	0.478000													11	487					3.07112e-06	3.3941e-06	0.080935	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167524	140167524	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140167524C>T	ENST00000504120.2	+	1	1649	c.1649C>T	c.(1648-1650)aCg>aTg	p.T550M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T550M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACGTGACGCTGCAGGTG	0.677000													26	180					0	0	0.294199	0	0
C7orf34	135927	broad.mit.edu	37	7	142636691	142636691	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:142636691C>T	ENST00000409607.3	+	1	89	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GAGCAGGGGGCGGCCAAAGGC	0.642000													8	45					0	0	0.278610	0	0
TXLNG	55787	broad.mit.edu	37	X	16859633	16859633	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:16859633A>G	ENST00000380122.5	+	10	1392	c.1331A>G	c.(1330-1332)gAa>gGa	p.E444G	TXLNG_ENST00000398155.4_Missense_Mutation_p.E312G|TXLNG_ENST00000485153.1_3'UTR	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	444					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						CTTCAGACAGAAAGGAATGAG	0.458000													6	40					0	0	0.217242	0	0
MYOM1	8736	broad.mit.edu	37	18	3168909	3168909	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr18:3168909A>G	ENST00000356443.4	-	9	1578	c.1245T>C	c.(1243-1245)ttT>ttC	p.F415F	MYOM1_ENST00000400569.3_Silent_p.F415F|MYOM1_ENST00000261606.7_Silent_p.F415F	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	415	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTCTCTCCCAAAAGACACAT	0.423000													8	58					0	0	0.278610	0	0
FAM217B	63939	broad.mit.edu	37	20	58520021	58520021	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:58520021C>T	ENST00000358293.3	+	5	1438	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	FAM217B_ENST00000360816.3_Silent_p.A341A|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	341																	CCTGTAAGGCCTCCAAAACAC	0.498000													4	85					0	0	0.150653	0	0
VPS13D	55187	broad.mit.edu	37	1	12336620	12336620	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:12336620A>G	ENST00000358136.3	+	19	3105	c.2975A>G	c.(2974-2976)tAt>tGt	p.Y992C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y992C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	992					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGAGGCCTTATGATGCTGAA	0.443000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	161					0	0	0.125774	0	0
MYH6	4624	broad.mit.edu	37	14	23863298	23863298	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:23863298G>T	ENST00000405093.3	-	21	2734	c.2664C>A	c.(2662-2664)gaC>gaA	p.D888E	MYH6_ENST00000356287.3_Missense_Mutation_p.D888E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	888					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCTGCAGGTCATTCTTCT	0.582000													9	100					0.00448238	0.00461488	0.047766	1	0
DGKG	1608	broad.mit.edu	37	3	185986683	185986683	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:185986683T>A	ENST00000265022.3	-	12	1562	c.1023A>T	c.(1021-1023)gaA>gaT	p.E341D	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.E341D	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	341					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGAGTTCCCTTCCACCCATG	0.612000													7	41					0	0	0.248553	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103306751	103306751	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:103306751T>C	ENST00000375735.2	+	85	12591	c.12447T>C	c.(12445-12447)ctT>ctC	p.L4149L	DYNC2H1_ENST00000398093.3_Silent_p.L4156L|DYNC2H1_ENST00000334267.7_Silent_p.L762L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4149					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCCGTGCCCTTGCAATACAGG	0.428000													4	38					0	0	0.150653	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735192	140735192	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140735192T>C	ENST00000571252.1	+	1	425	c.425T>C	c.(424-426)gTt>gCt	p.V142A	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATAAAAGTTGCTGAAAAT	0.428000													7	30					0	0	0.248553	0	0
LTBP2	4053	broad.mit.edu	37	14	74969933	74969933	+	Missense_Mutation	SNP	G	G	A	rs141230498	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:74969933G>A	ENST00000261978.4	-	33	5263	c.4877C>T	c.(4876-4878)cCg>cTg	p.P1626L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1582L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1626	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAGCTCCTCGGGGGACACAG	0.662000													10	37					0	0	0.058154	0	0
PLCB3	5331	broad.mit.edu	37	11	64023013	64023013	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:64023013C>T	ENST00000540288.1	+	7	625	c.522C>T	c.(520-522)aaC>aaT	p.N174N	PLCB3_ENST00000279230.6_Splice_Site_p.N174N|PLCB3_ENST00000325234.5_Splice_Site_p.N107N	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	174					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCGCATCAGCATCCTGAAGA	0.607000													13	167					0	0	0.093190	0	0
UGDH	7358	broad.mit.edu	37	4	39512333	39512333	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:39512333T>C	ENST00000316423.6	-	4	755	c.413A>G	c.(412-414)gAa>gGa	p.E138G	UGDH_ENST00000501493.2_Intron|UGDH_ENST00000507089.1_Missense_Mutation_p.E41G|UGDH_ENST00000506179.1_Missense_Mutation_p.E138G	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	138					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	ACGGATACTTTCTGCTGCCCG	0.373000													23	153					0	0	0.108266	0	0
ITIH5	80760	broad.mit.edu	37	10	7618977	7618977	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:7618977T>C	ENST00000256861.6	-	10	1497		c.e10-2		ITIH5_ENST00000397146.2_Splice_Site|ITIH5_ENST00000434980.1_Splice_Site|ITIH5_ENST00000298441.6_Splice_Site|ITIH5_ENST00000397145.2_Splice_Site|ITIH5_ENST00000446830.2_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCGTAGAACCTGCAGTGGAAG	0.577000													4	99					0	0	0.150653	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	56					0	0	0.115264	0	0
ZAK	51776	broad.mit.edu	37	2	174085965	174085965	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:174085965C>G	ENST00000338983.3	+	12	1270	c.1075C>G	c.(1075-1077)Cag>Gag	p.Q359E	MLTK_ENST00000431503.2_Missense_Mutation_p.Q258E|MLTK_ENST00000409176.2_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000375213.3_Intron|MLTK_ENST00000539448.1_Missense_Mutation_p.Q359E|MLK7-AS1_ENST00000422703.1_RNA	NM_133646.2	NP_598407.1																					GATGTCATGTCAGATCACAGC	0.468000													6	93					0	0	0.248553	0	0
ITSN1	6453	broad.mit.edu	37	21	35239540	35239540	+	Silent	SNP	T	T	C	rs148277582	byFrequency	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:35239540T>C	ENST00000381318.3	+	33	4366	c.4078T>C	c.(4078-4080)Ttg>Ctg	p.L1360L	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.L1360L|ITSN1_ENST00000437442.2_Silent_p.L1355L|ITSN1_ENST00000399367.3_Silent_p.L1355L|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1360	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTCAGAGATTGGCAATGGA	0.378000													9	62					0	0	0.047766	0	0
ZNF552	79818	broad.mit.edu	37	19	58324717	58324717	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:58324717C>G	ENST00000391701.1	-	2	274	c.105G>C	c.(103-105)caG>caC	p.Q35H	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACAGGCATCTCTGAGCCTCAC	0.507000													36	128					0	0	0.246493	0	0
RNF19A	25897	broad.mit.edu	37	8	101276911	101276911	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:101276911C>T	ENST00000519449.1	-	7	1610	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	RNF19A_ENST00000341084.2_Missense_Mutation_p.A432T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	432					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ACAGTCACTGCAGCTACTACT	0.358000													28	172					0	0	0.116897	0	0
PPP3CC	5533	broad.mit.edu	37	8	22333067	22333067	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:22333067G>T	ENST00000240139.5	+	3	629	c.302G>T	c.(301-303)gGa>gTa	p.G101V	PPP3CC_ENST00000518852.1_Missense_Mutation_p.G101V|PPP3CC_ENST00000289963.8_Missense_Mutation_p.G101V|PPP3CC_ENST00000397775.3_Missense_Mutation_p.G101V	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	101					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTGAAGTTGGAGGATCACCT	0.363000													10	87					6.40141e-05	6.83902e-05	0.080935	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30882036	30882036	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:30882036T>A	ENST00000251071.5	-	8	2078	c.1328A>T	c.(1327-1329)aAa>aTa	p.K443I	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.K443I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.K110I|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K443I|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K443I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	443					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTGTCTTGTTTCCTCTGTTC	0.493000													9	206					0	0	0.058154	0	0
MLH1	4292	broad.mit.edu	37	3	37081765	37081765	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:37081765T>C	ENST00000231790.2	+	14	1863	c.1647T>C	c.(1645-1647)ctT>ctC	p.L549L	MLH1_ENST00000458205.2_Silent_p.L308L|MLH1_ENST00000455445.2_Silent_p.L308L|MLH1_ENST00000435176.1_Silent_p.L451L|MLH1_ENST00000536378.1_Silent_p.L308L|MLH1_ENST00000539477.1_Silent_p.L308L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	549	Interaction with EXO1.		L -> P (in HNPCC2; has no effect on ex vivo splicing assay).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTTATACCTTCTCAACACCA	0.488000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	105					0	0	0.080935	0	0
PCOLCE	5118	broad.mit.edu	37	7	100201773	100201773	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100201773G>A	ENST00000223061.5	+	3	676	c.396G>A	c.(394-396)acG>acA	p.T132T	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	132	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGAGGATGACGACGGATGAGG	0.687000													5	125					0	0	0.184627	0	0
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7296112	7296112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7296112C>A	ENST00000535512.1	-	9	1684	c.667G>T	c.(667-669)Gag>Tag	p.E223*	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Nonsense_Mutation_p.E223*|TMEM256-PLSCR3_ENST00000324822.11_Nonsense_Mutation_p.E223*|TMEM256-PLSCR3_ENST00000574401.1_Nonsense_Mutation_p.E223*|TMEM256-PLSCR3_ENST00000576362.1_Nonsense_Mutation_p.E199*						223																	CCTGATACCTCAAAGTTGGTG	0.527000													29	230					1.32003e-05	1.43033e-05	0.108266	1	0
SBNO1	55206	broad.mit.edu	37	12	123805326	123805326	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:123805326A>G	ENST00000420886.2	-	17	2410	c.2411T>C	c.(2410-2412)tTa>tCa	p.L804S	SBNO1_ENST00000602398.1_Missense_Mutation_p.L804S|SBNO1_ENST00000602750.1_Missense_Mutation_p.L803S|SBNO1_ENST00000267176.4_Missense_Mutation_p.L803S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	804							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGATGCTAATAAGGCACTTTG	0.373000													14	76					0	0	0.105934	0	0
PALB2	79728	broad.mit.edu	37	16	23646766	23646766	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:23646766T>G	ENST00000261584.4	-	4	1253	c.1101A>C	c.(1099-1101)gaA>gaC	p.E367D		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	367					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCTGAAGATTTTCATTCCTGC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					23	193					0	0	0.234183	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468635	26468635	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:26468635C>T	ENST00000312541.5	+	8	1690	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S420F|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	481	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCAGCCTTTTCCGTGCCTGTG	0.572000													19	100					0	0	0.204396	0	0
ZNF609	23060	broad.mit.edu	37	15	64968357	64968357	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:64968357A>G	ENST00000326648.3	+	4	3432	c.3304A>G	c.(3304-3306)Agt>Ggt	p.S1102G		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1102						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGAAGCTGAGTGATGCCAG	0.557000													27	42					0	0	0.099896	0	0
FNDC8	54752	broad.mit.edu	37	17	33454283	33454283	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:33454283G>A	ENST00000158009.5	+	2	547	c.432G>A	c.(430-432)tcG>tcA	p.S144S		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	144										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CATGCCCATCGAAGTCCCAGA	0.582000													21	210					0	0	0.234183	0	0
TXLNA	200081	broad.mit.edu	37	1	32646028	32646028	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:32646028G>C	ENST00000373609.1	+	1	363	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	TXLNA_ENST00000373610.3_Missense_Mutation_p.E28Q			P40222	TXLNA_HUMAN	taxilin alpha	28					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGGACCCGAGGGAGCCCA	0.612000													4	34					0	0	0.150653	0	0
MYT1	4661	broad.mit.edu	37	20	62839182	62839182	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:62839182A>G	ENST00000536311.1	+	7	997	c.633A>G	c.(631-633)gaA>gaG	p.E211E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E211E			Q01538	MYT1_HUMAN	myelin transcription factor 1	211	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGGGTGAAAAGGGCCTCT	0.647000													10	73					0	0	0.058154	0	0
PLCXD1	55344	broad.mit.edu	37	X	209800	209800	+	Silent	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:209800A>G	ENST00000381657.2	+	6	1162	c.648A>G	c.(646-648)ccA>ccG	p.P216P	PLCXD1_ENST00000381663.3_Silent_p.P216P|PLCXD1_ENST00000399012.1_Silent_p.P216P	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	216					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTGTGGCCAGGAGTCCCCT	0.652000													8	86					0	0	0.278610	0	0
FOXS1	2307	broad.mit.edu	37	20	30432930	30432930	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:30432930T>C	ENST00000375978.3	-	1	490	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	139					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TCCTGGGTCCTGGCTGGTCGC	0.711000													4	37					0	0	0.150653	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388257	131388257	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:131388257G>A	ENST00000372739.3	+	48	6389	c.6279G>A	c.(6277-6279)aaG>aaA	p.K2093K	SPTAN1_ENST00000358161.5_Splice_Site_p.K2093K|SPTAN1_ENST00000372731.4_Splice_Site_p.K2088K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2088					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACTTCCGCAAGGTGAGGATGG	0.622000													8	83					0	0	0.278610	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067826	60067826	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:60067826T>C	ENST00000505959.1	-	6	646	c.120A>G	c.(118-120)ccA>ccG	p.P40P	ELOVL7_ENST00000438340.1_Silent_p.P53P|ELOVL7_ENST00000508821.1_Silent_p.P53P|ELOVL7_ENST00000425382.1_Silent_p.P53P			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	53					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CCATGAGCTTTGGTCCCAAGG	0.408000													5	35					0	0	0.184627	0	0
PLS1	5357	broad.mit.edu	37	3	142430415	142430415	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:142430415G>C	ENST00000337777.3	+	15	1915	c.1702G>C	c.(1702-1704)Gaa>Caa	p.E568Q	PLS1_ENST00000497002.1_Missense_Mutation_p.E568Q|PLS1_ENST00000457734.2_Missense_Mutation_p.E568Q	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	568	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AGTTCGTCAAGAAATGATCAG	0.343000													7	79					0	0	0.047766	0	0
RFC1	5981	broad.mit.edu	37	4	39291611	39291611	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:39291611G>C	ENST00000381897.1	-	24	3353	c.3220C>G	c.(3220-3222)Cca>Gca	p.P1074A	RFC1_ENST00000349703.2_Missense_Mutation_p.P1073A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1074					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.P1074A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGTGAGTATGGAGTAAGGTGG	0.393000													53	141					0	0	0.139131	0	0
MDN1	23195	broad.mit.edu	37	6	90472191	90472191	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:90472191G>C	ENST00000369393.3	-	16	2318	c.2203C>G	c.(2203-2205)Ctc>Gtc	p.L735V	MDN1_ENST00000428876.1_Missense_Mutation_p.L735V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	735					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGAGCAAAGAGTTCCTCAAAT	0.423000													14	101					0	0	0.105934	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671944	77671944	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:77671944G>A	ENST00000407578.2	-	56	9611	c.9345C>T	c.(9343-9345)atC>atT	p.I3115I	MYCBP2_ENST00000544440.2_Silent_p.I3077I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.I3077I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3077					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTTTTTGTTGATGCTACCCA	0.358000													12	191					0	0	0.105934	0	0
DNAH1	25981	broad.mit.edu	37	3	52383051	52383051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:52383051C>T	ENST00000420323.2	+	13	2515	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	752	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGGAGTACCGAAAGTACCT	0.567000													8	89					0	0	0.278610	0	0
CDCA7	83879	broad.mit.edu	37	2	174229684	174229684	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:174229684G>A	ENST00000306721.3	+	6	964	c.861G>A	c.(859-861)gtG>gtA	p.V287V	CDCA7_ENST00000392567.2_Silent_p.V208V|CDCA7_ENST00000410019.3_Silent_p.V166V|CDCA7_ENST00000347703.3_Silent_p.V208V|CDCA7_ENST00000410101.3_Silent_p.V243V	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	208	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACATGTTGGTGAGAAAGAGGA	0.527000													4	69					0	0	0.150653	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024301	14024301	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:14024301G>A	ENST00000318003.7	+	6	839	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G200S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	200	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CATAGGAAAAGGCCCGGCGTC	0.632000													5	80					0	0	0.184627	0	0
TAF1D	79101	broad.mit.edu	37	11	93471426	93471426	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:93471426C>A	ENST00000448108.2	-	3	958	c.308G>T	c.(307-309)gGa>gTa	p.G103V		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCGTGGTCTTCCTGTTGGCTG	0.353000													28	229					7.68411e-24	9.20131e-24	0.134883	1	0
LEPR	3953	broad.mit.edu	37	1	66070845	66070845	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:66070845A>C	ENST00000349533.6	+	11	1713	c.1528A>C	c.(1528-1530)Aca>Cca	p.T510P	LEPR_ENST00000371059.3_Missense_Mutation_p.T510P|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.T510P|LEPR_ENST00000344610.8_Missense_Mutation_p.T510P|LEPR_ENST00000371058.1_Missense_Mutation_p.T510P|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	510					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCTGGCTACACAATGTGGAT	0.423000													33	145					0	0	0.153744	0	0
TMEM182	130827	broad.mit.edu	37	2	103431277	103431277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:103431277C>A	ENST00000412401.2	+	5	745	c.540C>A	c.(538-540)taC>taA	p.Y180*	TMEM182_ENST00000409528.1_Nonsense_Mutation_p.Y84*|TMEM182_ENST00000409173.1_Nonsense_Mutation_p.Y137*|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	180						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGGAAAGCTACCGAAACATGA	0.463000													4	62					1.23904e-05	1.34616e-05	0.184627	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50461689	50461689	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:50461689C>T	ENST00000447370.2	-	8	1592	c.1502G>A	c.(1501-1503)gGc>gAc	p.G501D	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	501					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCGAAGGAGCCCTGACTGCT	0.701000													3	36					0	0	0.115264	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427985	134427985	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:134427985C>T	ENST00000370766.3	-	3	2791	c.82G>A	c.(82-84)Gag>Aag	p.E28K	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E28K	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	28					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGAGTTCTCTTTCACAGAC	0.488000													65	87					0	0	0.139131	0	0
CDH18	1016	broad.mit.edu	37	5	19839039	19839039	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:19839039C>A	ENST00000507958.1	-	5	1047	c.57G>T	c.(55-57)gtG>gtT	p.V19V	CDH18_ENST00000274170.4_Silent_p.V19V|CDH18_ENST00000511273.1_Silent_p.V19V|CDH18_ENST00000502796.1_Silent_p.V19V|CDH18_ENST00000506372.1_Silent_p.V19V|CDH18_ENST00000382275.1_Silent_p.V19V			Q13634	CAD18_HUMAN	cadherin 18, type 2	19					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACACCTCTGCACAAAACAGA	0.423000													7	111					3.09899e-07	3.48493e-07	0.047766	1	0
CCDC13	152206	broad.mit.edu	37	3	42799650	42799650	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:42799650C>T	ENST00000310232.6	-	2	271	c.188G>A	c.(187-189)gGg>gAg	p.G63E	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	63								p.G63E(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTTTGGCTCCCCTGCGTGGAG	0.488000													17	100					0	0	0.175082	0	0
IL10RA	3587	broad.mit.edu	37	11	117870299	117870299	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:117870299C>A	ENST00000227752.3	+	7	1800	c.1680C>A	c.(1678-1680)agC>agA	p.S560R	IL10RA_ENST00000541785.1_Missense_Mutation_p.S540R|IL10RA_ENST00000545409.1_Missense_Mutation_p.S411R|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	560						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)		TCCTGGGCAGCTTTAACTCAG	0.577000													17	74					0.00074312	0.000776898	0.175082	1	0
ATIC	471	broad.mit.edu	37	2	216197224	216197224	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:216197224C>G	ENST00000435675.1	+	7	1196	c.805C>G	c.(805-807)Cca>Gca	p.P269A	ATIC_ENST00000540518.1_Missense_Mutation_p.P211A|ATIC_ENST00000236959.9_Missense_Mutation_p.P270A			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	270					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ACATGTCAGCCCAGCAGGTAA	0.413000			T	ALK	ALCL								9	52					0	0	0.058154	0	0
PDHA2	5161	broad.mit.edu	37	4	96761498	96761498	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:96761498T>A	ENST00000295266.4	+	1	260	c.197T>A	c.(196-198)aTg>aAg	p.M66K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	66					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TACAGGATGATGCTGACTGTT	0.468000													13	63					0	0	0.093190	0	0
MTTP	4547	broad.mit.edu	37	4	100516002	100516002	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:100516002G>A	ENST00000457717.1	+	8	1127	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.G291R|MTTP_ENST00000511045.1_Missense_Mutation_p.G318R	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	291	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCCCATTGTGGGGCAGGTCTT	0.463000													13	76					0	0	0.093190	0	0
DDC	1644	broad.mit.edu	37	7	50597019	50597019	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:50597019G>T	ENST00000444124.2	-	5	657	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.L153M|DDC_ENST00000380984.4_Missense_Mutation_p.L153M|DDC_ENST00000426377.1_Missense_Mutation_p.L75M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	153	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGGGCCACCAGGGTGGCTTCA	0.532000													5	86					0.000602214	0.00063067	0.184627	1	0
EPHA7	2045	broad.mit.edu	37	6	93982044	93982044	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:93982044G>C	ENST00000369303.4	-	6	1605	c.1421C>G	c.(1420-1422)aCa>aGa	p.T474R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	474	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCATATTCTGTGATGACTCC	0.448000													16	158					0	0	0.160694	0	0
TOMM40L	84134	broad.mit.edu	37	1	161197728	161197728	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:161197728G>A	ENST00000367988.3	+	6	702	c.433G>A	c.(433-435)Gac>Aac	p.D145N	TOMM40L_ENST00000545897.1_Missense_Mutation_p.D111N|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D145N|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	145					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCGGGGAGATGACTACACAGC	0.517000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	43					0	0	0.217242	0	0
POMK	84197	broad.mit.edu	37	8	42977357	42977357	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:42977357A>T	ENST00000331373.5	+	5	645	c.390A>T	c.(388-390)caA>caT	p.Q130H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	130																	AATCTCTCCAAGGCACACATG	0.473000													12	61					0	0	0.093190	0	0
PSG7	5676	broad.mit.edu	37	19	43433809	43433809	+	RNA	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:43433809A>G	ENST00000406070.2	-	0	590				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTTAAAATCACAGCCTCCGT	0.537000													47	353					0	0	0.301197	0	0
RBM26	64062	broad.mit.edu	37	13	79908540	79908540	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:79908540T>C	ENST00000438737.2	-	20	3199	c.2759A>G	c.(2758-2760)cAg>cGg	p.Q920R	RBM26_ENST00000438724.1_Missense_Mutation_p.Q896R|RBM26_ENST00000267229.7_Missense_Mutation_p.Q893R			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	920	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATCATCAATCTGACAATCTTC	0.254000													9	111					0	0	0.069234	0	0
ATL1	51062	broad.mit.edu	37	14	51081201	51081201	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:51081201C>G	ENST00000441560.2	+	9	1315	c.834C>G	c.(832-834)acC>acG	p.T278T	ATL1_ENST00000357032.3_Silent_p.T278T|ATL1_ENST00000354525.4_Silent_p.T278T|ATL1_ENST00000358385.6_Silent_p.T278T	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	278					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAGTAGCTACCAATCCAAACT	0.353000													4	59					0	0	0.150653	0	0
ACY1	95	broad.mit.edu	37	3	52020507	52020507	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:52020507T>C	ENST00000458031.2	+	9	1014	c.783T>C	c.(781-783)ttT>ttC	p.F261F	ACY1_ENST00000476854.1_Silent_p.F171F|ACY1_ENST00000494103.1_Intron|ACY1_ENST00000476351.1_Silent_p.F136F|ACY1_ENST00000404366.2_Silent_p.F171F|ABHD14A-ACY1_ENST00000463937.1_Silent_p.F272F			Q03154	ACY1_HUMAN	aminoacylase 1	171					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GGGCAGGCTTTGCCCTGGATG	0.622000													9	93					0	0	0.058154	0	0
MAATS1	89876	broad.mit.edu	37	3	119459479	119459479	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:119459479G>A	ENST00000273390.5	+	13	1694	c.1617G>A	c.(1615-1617)gtG>gtA	p.V539V		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		AAAAGCTGGTGAAAAAAGCCG	0.438000													5	76					0	0	0.184627	0	0
TEKT3	64518	broad.mit.edu	37	17	15215636	15215636	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:15215636G>A	ENST00000395930.1	-	7	1227	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	TEKT3_ENST00000338696.2_Silent_p.F347F	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	347					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGCGATTGGTGAAAGACAAGT	0.458000													14	85					0	0	0.119110	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611380	206611380	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:206611380T>G	ENST00000414007.1	+	12	1280	c.1280T>G	c.(1279-1281)cTt>cGt	p.L427R	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	567					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTCCTGAAGCTTTACTTCCGG	0.537000													8	56					0	0	0.278610	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796590	62796590	+	RNA	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:62796590C>T	ENST00000582986.1	-	0	1330					NR_024386.1																						CCTGGGCGGACGACCAGTCAG	0.622000													6	92					0	0	0.248553	0	0
DPYSL2	1808	broad.mit.edu	37	8	26500997	26500997	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:26500997C>T	ENST00000311151.5	+	9	1266	c.854C>T	c.(853-855)aCg>aTg	p.T285M	DPYSL2_ENST00000523027.1_Missense_Mutation_p.T249M|DPYSL2_ENST00000521913.1_Missense_Mutation_p.T249M	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	285					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCTTGGGAACGGACGGCTCC	0.562000													4	80					0	0	0.150653	0	0
NLRP13	126204	broad.mit.edu	37	19	56413511	56413511	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:56413511C>T	ENST00000588751.1	-	9	2703	c.2679G>A	c.(2677-2679)caG>caA	p.Q893Q	NLRP13_ENST00000342929.3_Silent_p.Q893Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	893							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGCTCCTGTTCTGCAGGAGAG	0.572000													6	70					0	0	0.217242	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909097	92909097	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:92909097C>T	ENST00000532405.1	+	6	745	c.519C>T	c.(517-519)atC>atT	p.I173I	SLC24A4_ENST00000393265.2_Silent_p.I109I|SLC24A4_ENST00000298877.1_Silent_p.I156I|SLC24A4_ENST00000531433.1_Silent_p.I173I|SLC24A4_ENST00000351924.5_Silent_p.I156I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	173						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGGCACCATCGTGGGCTCTG	0.612000													8	69					0	0	0.278610	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475845	89475845	+	RNA	SNP	C	C	A	rs112678521		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:89475845C>A	ENST00000484817.1	-	0	356																											AGTAATAAACCCCGACATCCT	0.512000													16	238					0.00498961	0.00511981	0.160694	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92988138	92988138	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:92988138G>A	ENST00000268164.3	+	5	1058	c.821G>A	c.(820-822)cGc>cAc	p.R274H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	274					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCTCGCTGCGCCTGCTGCAC	0.622000													7	97					0	0	0.248553	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263219	140263219	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140263219G>A	ENST00000289272.2	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A456T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCGTTCGCGCAGCCCGA	0.682000													42	157					0	0	0.235728	0	0
MFRP	83552	broad.mit.edu	37	11	119215065	119215065	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:119215065A>T	ENST00000555262.1	-	8	1094	c.935T>A	c.(934-936)tTc>tAc	p.F312Y	MFRP_ENST00000530681.1_Missense_Mutation_p.F312Y|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000449574.2_Missense_Mutation_p.F312Y|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GGGAGTAGAGAAAGTGCCCTG	0.582000													4	40					0	0	0.150653	0	0
EDNRA	1909	broad.mit.edu	37	4	148406865	148406865	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:148406865G>T	ENST00000324300.5	+	2	547	c.32G>T	c.(31-33)tGg>tTg	p.W11L	EDNRA_ENST00000339690.5_Missense_Mutation_p.W11L|EDNRA_ENST00000358556.4_Missense_Mutation_p.W11L|EDNRA_ENST00000506066.1_Missense_Mutation_p.W11L|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	11					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCATCCTTTTGGCTGGCACTG	0.418000													11	70					1.08611e-07	1.22589e-07	0.080935	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581595	140581595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140581595C>T	ENST00000354757.3	+	1	2248	c.2248C>T	c.(2248-2250)Cag>Tag	p.Q750*	PCDHB11_ENST00000536699.1_Nonsense_Mutation_p.Q385*	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		750					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGCTACCAGTACGAGGT	0.567000													15	194					0	0	0.119110	0	0
DNM1	1759	broad.mit.edu	37	9	130988375	130988375	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:130988375C>A	ENST00000393594.3	+	10	1312	c.1258C>A	c.(1258-1260)Ctc>Atc	p.L420I	DNM1_ENST00000341179.7_Intron|DNM1_ENST00000475805.1_Missense_Mutation_p.L420I|DNM1_ENST00000486160.1_Missense_Mutation_p.L420I|DNM1_ENST00000372923.3_Intron			Q05193	DYN1_HUMAN	dynamin 1	420					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTGCAGAAGCTCAAAGAGCC	0.577000													8	38					5.18039e-06	5.69937e-06	0.278610	1	0
GOLGA6D	653643	broad.mit.edu	37	15	75586794	75586794	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:75586794C>T	ENST00000434739.3	+	18	2101	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	687										kidney(1)|lung(1)	2						GTGCAGCTGTCTCCTGTCATG	0.567000													11	83					0	0	0.105934	0	0
CDC14B	8555	broad.mit.edu	37	9	99304166	99304166	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:99304166G>C	ENST00000375241.1	-	6	957	c.506C>G	c.(505-507)gCc>gGc	p.A169G	CDC14B_ENST00000375236.1_Missense_Mutation_p.A169G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A169G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A132G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A169G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A169G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	169	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ACTTCCATAGGCAGCATCTCT	0.363000													9	59					0	0	0.069234	0	0
TKTL1	8277	broad.mit.edu	37	X	153543680	153543680	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:153543680A>G	ENST00000369915.3	+	7	1211	c.1022A>G	c.(1021-1023)cAa>cGa	p.Q341R	TKTL1_ENST00000217905.7_Missense_Mutation_p.Q81R|TKTL1_ENST00000369912.2_Missense_Mutation_p.Q285R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	341					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGCTGAACAAAACATGGTG	0.473000													6	57					0	0	0.278610	0	0
TDRD3	81550	broad.mit.edu	37	13	61083966	61083966	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:61083966A>G	ENST00000196169.3	+	9	1437	c.649A>G	c.(649-651)Atg>Gtg	p.M217V	TDRD3_ENST00000377894.2_Missense_Mutation_p.M217V|TDRD3_ENST00000535286.1_Missense_Mutation_p.M310V|TDRD3_ENST00000377881.2_Missense_Mutation_p.M217V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	217	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GCAAGCTCTTATGGATAATGG	0.413000													21	233					0	0	0.204396	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735649	140735649	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140735649G>C	ENST00000571252.1	+	1	882	c.882G>C	c.(880-882)ttG>ttC	p.L294F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTTCAGTTGAATTCTCTGA	0.438000													11	27					0	0	0.080935	0	0
ATN1	1822	broad.mit.edu	37	12	7050593	7050593	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:7050593C>G	ENST00000356654.4	+	9	3652	c.3415C>G	c.(3415-3417)Cag>Gag	p.Q1139E	ATN1_ENST00000396684.2_Missense_Mutation_p.Q1139E	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1139					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGCAGCTCATCAGCTGCAGGC	0.627000													17	117					0	0	0.160694	0	0
GPNMB	10457	broad.mit.edu	37	7	23309782	23309782	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:23309782G>C	ENST00000258733.4	+	9	1712	c.1417G>C	c.(1417-1419)Gtt>Ctt	p.V473L	GPNMB_ENST00000453162.2_Missense_Mutation_p.V427L|GPNMB_ENST00000539136.1_Missense_Mutation_p.V374L|GPNMB_ENST00000381990.2_Missense_Mutation_p.V485L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	485					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CCTGATTTCTGTTCCTGACAG	0.468000													7	64					0	0	0.248553	0	0
ANXA3	306	broad.mit.edu	37	4	79500216	79500216	+	Missense_Mutation	SNP	G	G	C	rs141446480		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:79500216G>C	ENST00000264908.6	+	4	518	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	ANXA3_ENST00000512884.1_Missense_Mutation_p.E8Q|ANXA3_ENST00000503570.2_Missense_Mutation_p.E8Q	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	47					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CATTCTGACTGAGAGGTCAAA	0.358000													6	93					0	0	0.217242	0	0
CHL1	10752	broad.mit.edu	37	3	431090	431090	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:431090C>A	ENST00000256509.2	+	20	3045	c.2403C>A	c.(2401-2403)gtC>gtA	p.V801V	CHL1_ENST00000397491.2_Silent_p.V785V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	785	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATGTCAAGGTCCAGGCTATCA	0.512000													6	72					0.00116845	0.00121634	0.217242	1	0
SRP54	6729	broad.mit.edu	37	14	35497328	35497328	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:35497328G>A	ENST00000556994.1	+	16	1759	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	SRP54_ENST00000555557.1_Silent_p.Q390Q|SRP54_ENST00000546080.1_Silent_p.Q405Q|SRP54_ENST00000216774.6_Silent_p.Q454Q			P61011	SRP54_HUMAN	signal recognition particle 54kDa	454	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GCCAGTCACAGATGGCAAAAT	0.398000													5	79					0	0	0.184627	0	0
SERPINA6	866	broad.mit.edu	37	14	94780725	94780725	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:94780725G>T	ENST00000341584.3	-	2	407	c.261C>A	c.(259-261)gcC>gcA	p.A87A		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	87					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGAGAAGCTGGGCCCGTGTGT	0.547000													3	34					0.150653	0.151399	0.150653	1	0
ENTPD5	957	broad.mit.edu	37	14	74438564	74438564	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:74438564C>G	ENST00000334696.6	-	14	1394	c.1075G>C	c.(1075-1077)Gcc>Ccc	p.A359P	ENTPD5_ENST00000557325.1_Missense_Mutation_p.A359P	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	359					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCTTCCCTGGCTTTTCTTTCA	0.413000													35	177					0	0	0.235728	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904831	62904831	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:62904831G>A	ENST00000308824.6	+	6	1091	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	PCMTD2_ENST00000369758.4_Missense_Mutation_p.E295K|PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000609372.1_Missense_Mutation_p.E172K	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	322						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGGGAAGAAGAAGAGAAGAC	0.512000													12	193					0	0	0.080935	0	0
CACNB2	783	broad.mit.edu	37	10	18803947	18803947	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:18803947G>A	ENST00000352115.6	+	7	709	c.709G>A	c.(709-711)Gca>Aca	p.A237T	CACNB2_ENST00000377328.1_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377315.4_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377331.2_Missense_Mutation_p.A209T	NM_201597.2	NP_963891.1	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	261					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGGAAAACTGCAGGCTTGTT	0.348000													5	78					0	0	0.184627	0	0
EPB41L1	2036	broad.mit.edu	37	20	34807738	34807738	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:34807738C>G	ENST00000338074.2	+	19	2572	c.2411C>G	c.(2410-2412)tCa>tGa	p.S804*	EPB41L1_ENST00000373946.3_Nonsense_Mutation_p.S624*|EPB41L1_ENST00000373941.1_Nonsense_Mutation_p.S803*|EPB41L1_ENST00000202028.5_Nonsense_Mutation_p.S702*|EPB41L1_ENST00000373950.2_Nonsense_Mutation_p.S695*|EPB41L1_ENST00000441639.1_Nonsense_Mutation_p.S702*	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	804	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAAACCCTCTCAACCTCCACC	0.587000													10	62					0	0	0.069234	0	0
PFAS	5198	broad.mit.edu	37	17	8170425	8170425	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:8170425T>C	ENST00000314666.6	+	24	3180	c.3047T>C	c.(3046-3048)tTc>tCc	p.F1016S	PFAS_ENST00000545834.1_Missense_Mutation_p.F592S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1016					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAGACGAGTTTCCAGCTGGAC	0.637000													7	21					0	0	0.248553	0	0
CDC14B	8555	broad.mit.edu	37	9	99304167	99304167	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:99304167C>T	ENST00000375241.1	-	6	956	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	CDC14B_ENST00000375236.1_Missense_Mutation_p.A169T|CDC14B_ENST00000463569.1_Missense_Mutation_p.A169T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A132T|CDC14B_ENST00000375240.3_Missense_Mutation_p.A169T|CDC14B_ENST00000265659.2_Missense_Mutation_p.A169T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	169	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTTCCATAGGCAGCATCTCTG	0.358000													9	59					0	0	0.069234	0	0
TPTE2	93492	broad.mit.edu	37	13	20039395	20039395	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:20039395C>T	ENST00000400230.2	-	9	720	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TPTE2_ENST00000382975.4_Splice_Site_p.E186K|TPTE2_ENST00000400103.2_Splice_Site_p.E115K|TPTE2_ENST00000390680.2_Splice_Site_p.E149K|TPTE2_ENST00000382977.4_Splice_Site_p.E226K|TPTE2_ENST00000255310.6_Splice_Site_p.E149K|TPTE2_ENST00000382978.1_Splice_Site_p.E186K|TPTE2_ENST00000457266.2_Splice_Site_p.E115K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	226	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTCACAAACCTGTAACGTAA	0.318000													18	277					0	0	0.204396	0	0
AOAH	313	broad.mit.edu	37	7	36661382	36661382	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:36661382A>G	ENST00000431169.1	-	8	887	c.587T>C	c.(586-588)cTg>cCg	p.L196P	AOAH_ENST00000535891.1_Missense_Mutation_p.L164P|AOAH_ENST00000258749.5_Missense_Mutation_p.L196P	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	196					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATAGCCCCGCAGTGTCTGAAA	0.478000													21	152					0	0	0.279207	0	0
ESPL1	9700	broad.mit.edu	37	12	53668687	53668687	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:53668687G>T	ENST00000257934.4	+	7	1684	c.1593G>T	c.(1591-1593)ctG>ctT	p.L531L	ESPL1_ENST00000552462.1_Silent_p.L531L|ESPL1_ENST00000550026.1_3'UTR	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	531					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTTTGTGGCTGGCAGCCCTGC	0.552000													8	60					0.000274275	0.000289473	0.047766	1	0
NCAPD3	23310	broad.mit.edu	37	11	134050984	134050984	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:134050984G>A	ENST00000534548.2	-	20	2611	c.2547C>T	c.(2545-2547)gaC>gaT	p.D849D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	849					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACAGGTCTTCGTCCATATTCC	0.468000													4	47					0	0	0.150653	0	0
CNTROB	116840	broad.mit.edu	37	17	7842836	7842836	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:7842836G>C	ENST00000380262.3	+	8	1858	c.933G>C	c.(931-933)gaG>gaC	p.E311D	CNTROB_ENST00000380255.3_Missense_Mutation_p.E311D|CNTROB_ENST00000563694.1_Missense_Mutation_p.E311D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E311D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	311					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGTAGGAGGAGGAAAGGCAAG	0.567000													19	140					0	0	0.189662	0	0
USP9Y	8287	broad.mit.edu	37	Y	14958935	14958935	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrY:14958935G>A	ENST00000338981.3	+	41	7777	c.6832G>A	c.(6832-6834)Gac>Aac	p.D2278N	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2278					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATGTGTTAGACATTTTATT	0.373000													22	163					0	0	0.264190	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23006055	23006055	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:23006055C>G	ENST00000312584.3	-	3	360	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	89					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ATATTCTGATCTATGAGATCC	0.453000													11	71					0	0	0.080935	0	0
CILP	8483	broad.mit.edu	37	15	65491409	65491409	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:65491409A>T	ENST00000261883.4	-	9	1381	c.1215T>A	c.(1213-1215)gtT>gtA	p.V405V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	405					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGCTCTCAGGAACTGGGTTGC	0.473000													8	52					0	0	0.047766	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98994983	98994983	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:98994983C>G	ENST00000453547.2	-	9	1274	c.1275G>C	c.(1273-1275)ggG>ggC	p.G425G	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000358531.4_Silent_p.G425G|ARHGAP19_ENST00000371027.1_Silent_p.G416G|ARHGAP19_ENST00000355366.5_Silent_p.G416G|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.G396G|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.G425G																							CCTTAATAAGCCCACTGAAGG	0.393000													19	238					0	0	0.189662	0	0
FATE1	89885	broad.mit.edu	37	X	150891174	150891174	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:150891174C>A	ENST00000370350.3	+	5	580	c.495C>A	c.(493-495)atC>atA	p.I165I		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	165						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCCTGATCATCGCCGTGC	0.657000													20	85					5.35267e-07	6.0082e-07	0.189662	1	0
EFHB	151651	broad.mit.edu	37	3	19961384	19961384	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:19961384T>A	ENST00000295824.9	-	3	1098	c.937A>T	c.(937-939)Aat>Tat	p.N313Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.N183Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	313					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGGGGATCATTTGCTCTTCCG	0.343000													19	163					0	0	0.189662	0	0
LMTK3	114783	broad.mit.edu	37	19	49001278	49001278	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:49001278C>G	ENST00000600059.1	-	11	3275	c.3048G>C	c.(3046-3048)gaG>gaC	p.E1016D	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1045D					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGGTGGCCTCTCCGTGTTCC	0.662000													9	73					0	0	0.047766	0	0
PDS5A	23244	broad.mit.edu	37	4	39978107	39978107	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:39978107C>G	ENST00000303538.8	-	2	630	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	PDS5A_ENST00000503396.1_Missense_Mutation_p.E31Q	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	31					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCGGTGATCTCTTTTACCCCC	0.572000											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	182					0	0	0.125774	0	0
CCDC57	284001	broad.mit.edu	37	17	80159758	80159758	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:80159758C>A	ENST00000389641.4	-	2	99	c.63G>T	c.(61-63)tgG>tgT	p.W21C	CCDC57_ENST00000392347.1_Missense_Mutation_p.W21C|CCDC57_ENST00000392343.3_Missense_Mutation_p.W21C			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	21										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCAGCGCCCTCCACTCCTCCT	0.657000													6	37					0.00116845	0.00121634	0.217242	1	0
ZRANB3	84083	broad.mit.edu	37	2	136107719	136107719	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:136107719C>T	ENST00000401392.1	-	5	638	c.426G>A	c.(424-426)ttG>ttA	p.L142L	ZRANB3_ENST00000264159.6_Silent_p.L142L|ZRANB3_ENST00000536680.1_Silent_p.L142L			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	142	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGCATCTATCAAAGTCTTTG	0.368000													5	39					0	0	0.184627	0	0
GOLIM4	27333	broad.mit.edu	37	3	167761257	167761257	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:167761257C>A	ENST00000470487.1	-	5	1116	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	GOLIM4_ENST00000309027.4_Missense_Mutation_p.G143W	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	143	Endosome targeting.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAGTCTTCCCCTTGTTTGCGA	0.383000													10	182					2.17888e-05	2.35674e-05	0.058154	1	0
HMGCS2	3158	broad.mit.edu	37	1	120307134	120307134	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:120307134C>G	ENST00000369406.3	-	2	269	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.E74Q	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	74					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTATACTTCTCCAGGTCAGTT	0.542000													8	94					0	0	0.278610	0	0
ASIC2	40	broad.mit.edu	37	17	31350886	31350886	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:31350886A>G	ENST00000225823.2	-	6	2214	c.1342T>C	c.(1342-1344)Tat>Cat	p.Y448H	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.Y397H	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	397					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TACGAGATATATTTTTCTGAT	0.443000													4	61					0	0	0.150653	0	0
HIP1R	9026	broad.mit.edu	37	12	123340863	123340863	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:123340863T>C	ENST00000253083.4	+	15	1498	c.1373T>C	c.(1372-1374)gTc>gCc	p.V458A		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	458					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGTGAGCTCGTCCATGTGCAC	0.647000													8	40					0	0	0.047766	0	0
SYN3	8224	broad.mit.edu	37	22	32924889	32924889	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:32924889C>T	ENST00000358763.2	-	11	1444	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	SYN3_ENST00000332840.5_Missense_Mutation_p.G401D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	401	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGCGCTGTGCCTCCTGGCAT	0.567000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	28					0	0	0.189662	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404676	1404676	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:1404676C>A	ENST00000381524.3	+	4	268	c.82C>A	c.(82-84)Cga>Aga	p.R28R	CSF2RA_ENST00000494969.2_Silent_p.R28R|CSF2RA_ENST00000417535.2_Silent_p.R28R|CSF2RA_ENST00000361536.3_Silent_p.R28R|CSF2RA_ENST00000432318.2_Silent_p.R28R|CSF2RA_ENST00000381529.3_Silent_p.R28R|CSF2RA_ENST00000381509.3_Silent_p.R28R|CSF2RA_ENST00000355805.2_Silent_p.R28R|CSF2RA_ENST00000355432.3_Silent_p.R28R|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.R28R			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	28						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R28*(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAGATCTGCGAACAGTGGC	0.418000													7	160					8.12818e-05	8.66864e-05	0.248553	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113658834	113658834	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:113658834A>C	ENST00000358160.4	+	16	2285	c.1793A>C	c.(1792-1794)aAa>aCa	p.K598T	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K393T|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K431T|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.K327T|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	598						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CAAGAAGAGAAATCTTTAAAG	0.378000													8	106					0	0	0.047766	0	0
EPHA7	2045	broad.mit.edu	37	6	93982043	93982043	+	Silent	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:93982043T>G	ENST00000369303.4	-	6	1606	c.1422A>C	c.(1420-1422)acA>acC	p.T474T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	474	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTCATATTCTGTGATGACTC	0.448000													16	157					0	0	0.160694	0	0
PRKAA1	5562	broad.mit.edu	37	5	40763068	40763068	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:40763068T>A	ENST00000397128.2	-	9	1500	c.1492A>T	c.(1492-1494)Agc>Tgc	p.S498C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.S513C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	498					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CGATAGTTGCTAACTGATCCC	0.413000													31	106					0	0	0.144211	0	0
MUC16	94025	broad.mit.edu	37	19	9075666	9075666	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:9075666C>T	ENST00000397910.4	-	3	11983	c.11780G>A	c.(11779-11781)aGc>aAc	p.S3927N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3928	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						CTCATATGGGCTGCTTTTCCA	0.488000													5	30					0	0	0.217242	0	0
RNF141	50862	broad.mit.edu	37	11	10546791	10546791	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:10546791C>A	ENST00000265981.2	-	4	524	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	RNF141_ENST00000528665.1_Missense_Mutation_p.D128Y	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	128							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		GAGTTTTCATCAGGTTCTTCA	0.353000													17	101					4.14922e-12	4.84937e-12	0.146539	1	0
MARCO	8685	broad.mit.edu	37	2	119727736	119727736	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:119727736C>G	ENST00000541757.1	+	4	392	c.12C>G	c.(10-12)ctC>ctG	p.L4L	MARCO_ENST00000327097.4_Silent_p.L82L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	82					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTATTTCCTCAATGACACTC	0.587000													5	112					0	0	0.248553	0	0
ZNF502	91392	broad.mit.edu	37	3	44763917	44763917	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:44763917A>T	ENST00000296091.4	+	4	1864	c.1608A>T	c.(1606-1608)agA>agT	p.R536S	ZNF502_ENST00000436624.2_Missense_Mutation_p.R536S|ZNF502_ENST00000449836.1_Missense_Mutation_p.R536S	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCCTTTTCAGACATCAGAAAC	0.433000													16	222					0	0	0.189662	0	0
PIK3CG	5294	broad.mit.edu	37	7	106520029	106520029	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:106520029T>A	ENST00000359195.3	+	6	2767	c.2457T>A	c.(2455-2457)gaT>gaA	p.D819E	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D819E|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D819E	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	819					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AATGTGCCGATCCTACAGCCC	0.363000													11	66					0	0	0.080935	0	0
NRXN1	9378	broad.mit.edu	37	2	50149201	50149201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:50149201G>A	ENST00000404971.1	-	24	5864	c.4525C>T	c.(4525-4527)Cga>Tga	p.R1509*	NRXN1_ENST00000401710.1_Nonsense_Mutation_p.R457*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1469*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.R1439*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1461*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.R404*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.R1439*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1439					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1510*(1)|p.R1439*(1)|p.R404*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTAGTTTCGACTCTCGTCC	0.478000													8	118					0	0	0.058154	0	0
MUC17	140453	broad.mit.edu	37	7	100677255	100677255	+	Missense_Mutation	SNP	C	C	G	rs140905069		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100677255C>G	ENST00000306151.4	+	3	2622	c.2558C>G	c.(2557-2559)aCc>aGc	p.T853S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	853	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T853N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.488000													53	551					0	0	0.139131	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535910	69535910	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:69535910C>G	ENST00000338206.5	-	1	436	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	143					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AACTTTGACTCTTGTAGTTTC	0.363000													31	305					0	0	0.125774	0	0
IFT88	8100	broad.mit.edu	37	13	21165118	21165118	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:21165118C>G	ENST00000382778.4	+	6	1368	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V	IFT88_ENST00000319980.6_Missense_Mutation_p.L84V|IFT88_ENST00000351808.5_Missense_Mutation_p.L75V|IFT88_ENST00000537103.1_Missense_Mutation_p.L56V			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	84					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAAGACATCTCTGGCATCATC	0.343000													6	124					0	0	0.248553	0	0
NUDT22	84304	broad.mit.edu	37	11	63994432	63994432	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:63994432G>A	ENST00000279206.3	+	2	464	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	NUDT22_ENST00000441250.2_Missense_Mutation_p.R103Q	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	103							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GCCTGGCTGCGACAGCAGGGT	0.652000													11	47					0	0	0.069234	0	0
TTBK1	84630	broad.mit.edu	37	6	43250826	43250826	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:43250826G>C	ENST00000259750.4	+	14	2431	c.2348G>C	c.(2347-2349)gGg>gCg	p.G783A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	783						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGGTGCTGGGGCCTCGTAGT	0.632000													4	6					0	0	0.150653	0	0
ZNF583	147949	broad.mit.edu	37	19	56925716	56925716	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:56925716G>A	ENST00000333201.9	+	4	349	c.139G>A	c.(139-141)Gtt>Att	p.V47I	ZNF583_ENST00000291598.7_Missense_Mutation_p.V47I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V47F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GTAAGCAGGAGTTTCTGTTTC	0.453000													18	139					0	0	0.175082	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028589	44028589	+	RNA	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:44028589T>C	ENST00000381680.2	-	0	1195					NR_002318.2																						CTTATCCTCTTCATTGTTCCC	0.418000													5	41					0	0	0.217242	0	0
L2HGDH	79944	broad.mit.edu	37	14	50734590	50734590	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:50734590G>C	ENST00000267436.4	-	8	1342	c.945C>G	c.(943-945)ttC>ttG	p.F315L	L2HGDH_ENST00000421284.3_Missense_Mutation_p.F315L|L2HGDH_ENST00000261699.4_Missense_Mutation_p.F315L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	315					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TCCTTGGTGTGAAGTGAACTC	0.423000													13	112					0	0	0.119110	0	0
WIPI1	55062	broad.mit.edu	37	17	66426273	66426273	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:66426273C>A	ENST00000262139.5	-	9	828	c.829G>T	c.(829-831)Ggc>Tgc	p.G277C	WIPI1_ENST00000546360.1_Missense_Mutation_p.G195C|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	277					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CCCATGTAGCCACTCCAGGTC	0.562000													7	76					0.00198382	0.00205461	0.248553	1	0
APBA2	321	broad.mit.edu	37	15	29346160	29346160	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:29346160C>A	ENST00000558402.1	+	5	672	c.73C>A	c.(73-75)Cac>Aac	p.H25N	APBA2_ENST00000558259.1_Missense_Mutation_p.H25N|APBA2_ENST00000411764.1_Missense_Mutation_p.H25N|APBA2_ENST00000561069.1_Missense_Mutation_p.H25N|APBA2_ENST00000558330.1_Missense_Mutation_p.H25N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	25					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCCTGTCCCTCACAGCCAGGA	0.667000													5	56					0.0215528	0.0218758	0.217242	1	0
CPED1	79974	broad.mit.edu	37	7	120768504	120768504	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:120768504C>T	ENST00000310396.5	+	11	1838	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTATGACTTTCATAAAGGAAC	0.368000													8	82					0	0	0.047766	0	0
PHF3	23469	broad.mit.edu	37	6	64421146	64421146	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:64421146A>T	ENST00000262043.3	+	15	4225	c.3885A>T	c.(3883-3885)agA>agT	p.R1295S	PHF3_ENST00000393387.1_Missense_Mutation_p.R1295S			Q92576	PHF3_HUMAN	PHD finger protein 3	1295					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCAGTAGCAGAAAGCGCTATG	0.393000													4	64					0	0	0.150653	0	0
MYOF	26509	broad.mit.edu	37	10	95121272	95121272	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:95121272G>T	ENST00000371501.4	-	28	3033	c.2911C>A	c.(2911-2913)Cca>Aca	p.P971T	MYOF_ENST00000359263.4_Missense_Mutation_p.P971T|MYOF_ENST00000358334.5_Missense_Mutation_p.P958T|MYOF_ENST00000371502.4_Missense_Mutation_p.P971T			Q9NZM1	MYOF_HUMAN	myoferlin	971					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCCAACCTGGAGGACAAGTC	0.448000													7	119					0.00198382	0.00205461	0.248553	1	0
PTPN9	5780	broad.mit.edu	37	15	75809620	75809620	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:75809620T>C	ENST00000306726.2	-	5	1020	c.508A>G	c.(508-510)Aaa>Gaa	p.K170E		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	170	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAGGACTTTCTTGCCAAGA	0.383000													6	54					0	0	0.248553	0	0
ZUFSP	221302	broad.mit.edu	37	6	116987904	116987904	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:116987904T>C	ENST00000368576.3	-	2	695	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.Y151C	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	151						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGGAGGACTGTATGTTGTTTC	0.368000													18	104					0	0	0.175082	0	0
ERBB4	2066	broad.mit.edu	37	2	212652839	212652839	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:212652839C>A	ENST00000342788.4	-	4	777	c.467G>T	c.(466-468)tGt>tTt	p.C156F	ERBB4_ENST00000436443.1_Missense_Mutation_p.C156F|ERBB4_ENST00000402597.1_Missense_Mutation_p.C156F|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	156					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTCTGCATAACAAAGGAATTT	0.353000										TSP Lung(8;0.080)			9	39					0.000274275	0.000289473	0.047766	1	0
SHOX	6473	broad.mit.edu	37	X	595436	595436	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:595436C>A	ENST00000381578.1	+	3	1052	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	SHOX_ENST00000554971.1_Missense_Mutation_p.R121S|SHOX_ENST00000334060.3_Missense_Mutation_p.R121S|SHOX_ENST00000381575.1_Missense_Mutation_p.R121S	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	121					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGCGCAGCCGCACCAACTT	0.617000													4	38					0.014758	0.0150167	0.184627	1	0
PABPC5	140886	broad.mit.edu	37	X	90690847	90690847	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:90690847C>T	ENST00000312600.3	+	2	485	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	91	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACCATTCCGCCTTATGTGGTC	0.453000													8	30					0	0	0.278610	0	0
DLG1	1739	broad.mit.edu	37	3	196865195	196865195	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:196865195C>T	ENST00000346964.2	-	10	1069	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	DLG1_ENST00000392382.2_Missense_Mutation_p.E261K|DLG1_ENST00000314062.3_Missense_Mutation_p.E243K|DLG1_ENST00000450955.1_Missense_Mutation_p.E261K|DLG1_ENST00000422288.1_Missense_Mutation_p.E243K|DLG1_ENST00000452595.1_Missense_Mutation_p.E178K|DLG1_ENST00000419354.1_Missense_Mutation_p.E294K|DLG1_ENST00000448528.2_Missense_Mutation_p.E294K|DLG1_ENST00000357674.4_Missense_Mutation_p.E261K|DLG1_ENST00000443183.1_Missense_Mutation_p.E178K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	294	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTCAACGCTTCAACTGCTTTG	0.318000													6	153					0	0	0.217242	0	0
RNF141	50862	broad.mit.edu	37	11	10555684	10555684	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:10555684G>C	ENST00000265981.2	-	2	164	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	RNF141_ENST00000528665.1_Missense_Mutation_p.Q8E	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	8							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		AACTGTGTCTGATCCGAAATT	0.358000													48	161					0	0	0.139131	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309676	1309676	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:1309676T>A	ENST00000338370.3	-	2	602	c.202A>T	c.(202-204)Aag>Tag	p.K68*	AURKAIP1_ENST00000321751.5_Nonsense_Mutation_p.K68*|AURKAIP1_ENST00000378853.3_Nonsense_Mutation_p.K68*|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Nonsense_Mutation_p.K68*			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	68					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGACATCTTCCTGGGGACC	0.687000													7	47					0	0	0.248553	0	0
OR2G2	81470	broad.mit.edu	37	1	247752306	247752306	+	Silent	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:247752306A>T	ENST00000320065.1	+	1	645	c.645A>T	c.(643-645)tcA>tcT	p.S215S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGCCTGTCTCATTCATCCTGG	0.522000													38	73					0	0	0.225048	0	0
GDNF	2668	broad.mit.edu	37	5	37834784	37834784	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:37834784C>T	ENST00000326524.2	-	2	314	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	GDNF_ENST00000515058.1_Intron|GDNF_ENST00000427982.1_Missense_Mutation_p.G56S|GDNF_ENST00000344622.4_Intron|GDNF_ENST00000381826.4_Intron	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	39					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGGCGGCGGCCGAGGGAGCGG	0.761000													3	37					0	0	0.150653	0	0
OR51E2	81285	broad.mit.edu	37	11	4703559	4703559	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:4703559G>T	ENST00000396950.3	-	2	622	c.383C>A	c.(382-384)cCa>cAa	p.P128Q		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGGCGCAGTGGGTGGCAGAT	0.542000													23	40					3.62473e-10	4.18027e-10	0.234183	1	0
OVGP1	5016	broad.mit.edu	37	1	111957606	111957606	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:111957606T>C	ENST00000369732.3	-	11	1572	c.1517A>G	c.(1516-1518)cAg>cGg	p.Q506R		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	506					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CAGGGTCTTCTGTCCAGTGGT	0.557000													5	73					0	0	0.184627	0	0
MUC3A	4584	broad.mit.edu	37	7	100551404	100551404	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100551404C>A	ENST00000319509.7	+	1	155	c.155C>A	c.(154-156)aCc>aAc	p.T52N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTGTGGGCACCAGCACTTCA	0.502000													13	118					1.5842e-08	1.80988e-08	0.105934	1	0
PLXNA3	55558	broad.mit.edu	37	X	153695958	153695958	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:153695958C>T	ENST00000369682.3	+	20	3687	c.3512C>T	c.(3511-3513)cCg>cTg	p.P1171L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1171	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGGCCAGCCGTGTTCGCTC	0.642000													7	5					0	0	0.278610	0	0
CTLA4	1493	broad.mit.edu	37	2	204736144	204736144	+	Silent	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:204736144T>G	ENST00000302823.3	+	3	658	c.501T>G	c.(499-501)ctT>ctG	p.L167L	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	167					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TCTGGATCCTTGCAGCAGTTA	0.468000													37	133					0	0	0.235728	0	0
YTHDC2	64848	broad.mit.edu	37	5	112896841	112896841	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:112896841T>A	ENST00000161863.4	+	18	2494	c.2281T>A	c.(2281-2283)Ttg>Atg	p.L761M		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	761	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCAGAATATGTTGGAATTTCA	0.378000													7	52					0	0	0.278610	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001303	13001303	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:13001303T>C	ENST00000376189.1	-	3	479	c.380A>G	c.(379-381)aAt>aGt	p.N127S	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.N127S|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	127										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTTGGCATTGAGGAAGCA	0.507000													36	576					0	0	0.246493	0	0
ZRANB3	84083	broad.mit.edu	37	2	136111058	136111058	+	Silent	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:136111058T>A	ENST00000401392.1	-	4	533	c.321A>T	c.(319-321)ccA>ccT	p.P107P	ZRANB3_ENST00000264159.6_Silent_p.P107P|ZRANB3_ENST00000536680.1_Silent_p.P107P			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	107	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGATTTCTTCTGGACTTAGCT	0.363000													6	68					0	0	0.248553	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235367	57235367	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:57235367A>G	ENST00000335099.3	+	2	634	c.317A>G	c.(316-318)cAa>cGa	p.Q106R	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.Q106R|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.Q106R	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	106					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGCCACTTGCAAGCCCTGGAG	0.647000													14	194					0	0	0.105934	0	0
SLC3A1	6519	broad.mit.edu	37	2	44539829	44539829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:44539829C>A	ENST00000260649.6	+	8	1513	c.1437C>A	c.(1435-1437)taC>taA	p.Y479*	SLC3A1_ENST00000409740.3_Nonsense_Mutation_p.Y110*|SLC3A1_ENST00000409387.1_Nonsense_Mutation_p.Y479*|SLC3A1_ENST00000409229.3_Nonsense_Mutation_p.Y479*|SLC3A1_ENST00000409741.1_Nonsense_Mutation_p.Y479*|SLC3A1_ENST00000409294.1_Nonsense_Mutation_p.Y99*|SLC3A1_ENST00000409380.1_Nonsense_Mutation_p.Y201*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	479					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CTATAACTTACTATGGAGAAG	0.403000													10	96					1.58986e-06	1.76507e-06	0.069234	1	0
MYH15	22989	broad.mit.edu	37	3	108117630	108117630	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:108117630C>T	ENST00000273353.3	-	36	5103	c.5047G>A	c.(5047-5049)Gtg>Atg	p.V1683M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1683						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCACAGCCACCTGCTCCTTC	0.537000													26	356					0	0	0.108266	0	0
INSIG2	51141	broad.mit.edu	37	2	118860887	118860887	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:118860887A>C	ENST00000245787.4	+	3	565	c.359A>C	c.(358-360)cAt>cCt	p.H120P	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	120					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGTATAAATCATGCCAGTGCT	0.398000													7	212					0	0	0.278610	0	0
OR1A2	26189	broad.mit.edu	37	17	3101037	3101037	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:3101037C>T	ENST00000381951.1	+	1	225	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TCTTCTCATCCGTAACCATCC	0.488000													26	172					0	0	0.125774	0	0
FAM188A	80013	broad.mit.edu	37	10	15883574	15883574	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:15883574C>G	ENST00000277632.3	-	4	480	c.260G>C	c.(259-261)tGt>tCt	p.C87S	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	87					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CAAGGTATGACAAAGGAGTTC	0.353000													11	148					0	0	0.080935	0	0
C16orf62	57020	broad.mit.edu	37	16	19680552	19680552	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:19680552G>A	ENST00000438132.3	+	27	2607	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	C16orf62_ENST00000417362.2_Silent_p.K671K|C16orf62_ENST00000251143.5_Silent_p.K764K|C16orf62_ENST00000543152.1_Silent_p.K513K|C16orf62_ENST00000542263.1_Silent_p.K760K|C16orf62_ENST00000448695.1_Silent_p.K614K	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	764						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTGATGGGAAGATGCGGCCAT	0.413000													8	76					0	0	0.278610	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019250	27019250	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:27019250C>T	ENST00000354760.3	+	3	127	c.92C>T	c.(91-93)gCc>gTc	p.A31V	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	31	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GAGTTCACGGCCGAGTGCCCC	0.592000													61	105					0	0	0.139131	0	0
EEA1	8411	broad.mit.edu	37	12	93246025	93246025	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:93246025C>T	ENST00000322349.8	-	8	832	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	190					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACTTTTTGTTCAGCAGCTTCT	0.313000													14	83					0	0	0.105934	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025203	5025203	+	Silent	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:5025203C>T	ENST00000256495.3	+	5	1668	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	355						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						ACCCAGGCCTCAACGCCTCTG	0.597000													17	156					0	0	0.160694	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736482	140736482	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:140736482C>A	ENST00000571252.1	+	1	1715	c.1715C>A	c.(1714-1716)tCc>tAc	p.S572Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGATGGCTCCACTGGTGTG	0.587000													80	282					2.05912e-35	2.47786e-35	0.139131	1	0
SELENBP1	8991	broad.mit.edu	37	1	151337469	151337469	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:151337469T>C	ENST00000426705.2	-	11	1459	c.1315A>G	c.(1315-1317)Aag>Gag	p.K439E	SELENBP1_ENST00000435071.1_Missense_Mutation_p.K333E|SELENBP1_ENST00000447402.3_Missense_Mutation_p.K335E|SELENBP1_ENST00000368868.5_Missense_Mutation_p.K397E	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	397					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAGGCGCTTCCCATCCAGG	0.577000													7	25					0	0	0.278610	0	0
KCNAB1	7881	broad.mit.edu	37	3	156254499	156254499	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:156254499G>A	ENST00000302490.8	+	14	2040	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KCNAB1_ENST00000490337.1_Missense_Mutation_p.R408H|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.R361H|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R379H|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R397H	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	408						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACATACTGCGCAACAAGCCC	0.443000													39	87					0	0	0.225048	0	0
CLCN6	1185	broad.mit.edu	37	1	11884608	11884608	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:11884608C>G	ENST00000346436.6	+	8	698	c.646C>G	c.(646-648)Cag>Gag	p.Q216E	CLCN6_ENST00000312413.6_Missense_Mutation_p.Q216E|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q216E|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q194E	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	216					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTCCCTCAGGTAAGATG	0.587000													9	57					0	0	0.047766	0	0
DUSP11	8446	broad.mit.edu	37	2	73993610	73993610	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:73993610C>G	ENST00000272444.3	-	8	911	c.870G>C	c.(868-870)caG>caC	p.Q290H	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	243					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GACCCTGGATCTGATGTAGAT	0.453000													12	128					0	0	0.093190	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	156					0	0	0.150653	0	0
CD4	920	broad.mit.edu	37	12	6909521	6909521	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:6909521A>T	ENST00000011653.4	+	3	356	c.98A>T	c.(97-99)aAa>aTa	p.K33I	CD4_ENST00000541982.1_Intron|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	33	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGGGCAAAAAAGGGGATACA	0.502000													9	54					0	0	0.047766	0	0
RAD23B	5887	broad.mit.edu	37	9	110081037	110081037	+	Silent	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:110081037G>T	ENST00000358015.3	+	6	909	c.558G>T	c.(556-558)acG>acT	p.T186T	RAD23B_ENST00000416373.2_Silent_p.T114T	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	186					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTAGTGACGGGTCAGTCTT	0.393000								Direct reversal of damage;Nucleotide excision repair (NER)					11	203					4.68919e-08	5.32723e-08	0.069234	1	0
TSSK6	83983	broad.mit.edu	37	19	19625591	19625591	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:19625591C>G	ENST00000360913.3	-	1	1247	c.646G>C	c.(646-648)Gac>Cac	p.D216H	TSSK6_ENST00000585580.3_Missense_Mutation_p.D216H			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	216	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCGGCGATGTCCGAGTCGTCG	0.662000													11	81					0	0	0.080935	0	0
TMEM182	130827	broad.mit.edu	37	2	103431276	103431276	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:103431276A>G	ENST00000412401.2	+	5	744	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	TMEM182_ENST00000409528.1_Missense_Mutation_p.Y84C|TMEM182_ENST00000409173.1_Missense_Mutation_p.Y137C|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	180						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ATGGAAAGCTACCGAAACATG	0.463000													4	57					0	0	0.184627	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292181	18292181	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:18292181T>C	ENST00000377369.2	+	12	2114	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	SLC39A12_ENST00000377374.4_Missense_Mutation_p.F577S|SLC39A12_ENST00000377371.3_Missense_Mutation_p.F613S|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.F480S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	614					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTAACTGCCTTCATGGGATTA	0.428000													90	140					0	0	0.139131	0	0
NUP205	23165	broad.mit.edu	37	7	135330293	135330293	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:135330293C>G	ENST00000285968.6	+	41	5787	c.5761C>G	c.(5761-5763)Caa>Gaa	p.Q1921E		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1921					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CACGGATTCTCAAGATTCCTT	0.383000											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	178					0	0	0.119110	0	0
EXOSC1	51013	broad.mit.edu	37	10	99205549	99205549	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:99205549G>A	ENST00000370902.3	-	2	118	c.87C>T	c.(85-87)cgC>cgT	p.R29R	EXOSC1_ENST00000370886.5_Silent_p.R29R|EXOSC1_ENST00000370885.4_Silent_p.R29R|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Silent_p.R29R	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	29					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		TGTAGCCGTGGCGGGTGTAGG	0.592000											OREG0020413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	58					0	0	0.183431	0	0
EXOC7	23265	broad.mit.edu	37	17	74080219	74080219	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:74080219C>T	ENST00000607838.1	-	19	1983	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	EXOC7_ENST00000405575.4_Splice_Site_p.G616D|EXOC7_ENST00000335146.7_Splice_Site_p.G658D|EXOC7_ENST00000332065.5_Splice_Site_p.G576D|EXOC7_ENST00000467929.2_Splice_Site_p.G579D|EXOC7_ENST00000411744.2_Splice_Site_p.G599D|EXOC7_ENST00000589210.1_Splice_Site_p.G607D	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	658					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			ATCATTGAAGCCCTGGCCACC	0.537000													10	43					0	0	0.069234	0	0
NEO1	4756	broad.mit.edu	37	15	73562506	73562506	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:73562506A>G	ENST00000339362.5	+	18	3097	c.2650A>G	c.(2650-2652)Aag>Gag	p.K884E	NEO1_ENST00000560262.1_Missense_Mutation_p.K884E|NEO1_ENST00000558964.1_Missense_Mutation_p.K884E|NEO1_ENST00000261908.6_Missense_Mutation_p.K884E			Q92859	NEO1_HUMAN	neogenin 1	884	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CAAGCACCAGAAGATTACAGA	0.512000													24	163					0	0	0.249174	0	0
RASGRP4	115727	broad.mit.edu	37	19	38905588	38905588	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:38905588G>A	ENST00000454404.2	-	9	1241	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000293062.9_Missense_Mutation_p.P280L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P377L|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P363L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	377	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCAGCTTGGGTAGGTGCAG	0.652000													5	31					0	0	0.278610	0	0
MYH6	4624	broad.mit.edu	37	14	23856971	23856971	+	Silent	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:23856971A>C	ENST00000405093.3	-	31	4591	c.4521T>G	c.(4519-4521)ctT>ctG	p.L1507L	MYH6_ENST00000356287.3_Silent_p.L1507L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1507					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCACACCCTGAAGGTTCTTGT	0.597000													13	206					0	0	0.146539	0	0
QRICH1	54870	broad.mit.edu	37	3	49095257	49095257	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:49095257G>A	ENST00000395443.2	-	3	848	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.H126Y|QRICH1_ENST00000357496.2_Missense_Mutation_p.H126Y	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	126	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTAGGCTGGTGAACGGTGAGT	0.582000													13	151					0	0	0.093190	0	0
ASXL2	55252	broad.mit.edu	37	2	25964959	25964959	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:25964959A>G	ENST00000435504.4	-	13	4540	c.4247T>C	c.(4246-4248)tTc>tCc	p.F1416S	ASXL2_ENST00000272341.4_Missense_Mutation_p.F899S|ASXL2_ENST00000336112.4_Missense_Mutation_p.F1388S|ASXL2_ENST00000404843.1_Missense_Mutation_p.F899S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCATGGCAGAAAGCGCCACA	0.522000													11	129					0	0	0.069234	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351937	41351937	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:41351937G>A	ENST00000301141.5	-	6	917	c.897C>T	c.(895-897)ttC>ttT	p.F299F	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	299					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TGCCCCCAATGAAGAGGTTCA	0.577000													15	76					0	0	0.119110	0	0
NKAPL	222698	broad.mit.edu	37	6	28227300	28227300	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr6:28227300C>T	ENST00000343684.3	+	1	203	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	51										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCGTGAGGGCCTCAGGCCTCC	0.652000													4	96					0	0	0.150653	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623526	37623526	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr21:37623526G>T	ENST00000399151.3	+	22	5150	c.5065G>T	c.(5065-5067)Gcg>Tcg	p.A1689S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1689					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCAGTTGACAGCGGCTGTTGC	0.418000													9	124					0.000442599	0.000465111	0.058154	1	0
BMI1	648	broad.mit.edu	37	10	22617548	22617548	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:22617548T>C	ENST00000376663.3	+	8	996	c.491T>C	c.(490-492)tTa>tCa	p.L164S	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.L307S	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AAAAGATACTTACGATGCCCA	0.299000													7	119					0	0	0.278610	0	0
STRN	6801	broad.mit.edu	37	2	37129860	37129860	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:37129860G>C	ENST00000263918.4	-	5	534	c.526C>G	c.(526-528)Cta>Gta	p.L176V	STRN_ENST00000379213.2_Missense_Mutation_p.L164V	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	176					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCACATCTAGAATAGTATCT	0.383000													56	222					0	0	0.139131	0	0
HK2	3099	broad.mit.edu	37	2	75104444	75104444	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:75104444G>C	ENST00000290573.2	+	8	1627	c.1027G>C	c.(1027-1029)Gaa>Caa	p.E343Q	HK2_ENST00000409174.1_Missense_Mutation_p.E315Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	343	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTCAGACATTGAAGGGTGAGC	0.552000													5	229					0	0	0.184627	0	0
OR4N2	390429	broad.mit.edu	37	14	20296169	20296169	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:20296169G>T	ENST00000315947.1	+	1	562	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCAAGCTGGCCTGCACCGA	0.537000													16	354					6.31663e-08	7.16276e-08	0.132662	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90497995	90497995	+	Silent	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:90497995C>G	ENST00000325643.5	+	1	255	c.189C>G	c.(187-189)ccC>ccG	p.P63P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GCTCCACTCCCTGGATGATGG	0.562000													6	26					0	0	0.217242	0	0
MUC17	140453	broad.mit.edu	37	7	100678800	100678800	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:100678800T>A	ENST00000306151.4	+	3	4167	c.4103T>A	c.(4102-4104)gTg>gAg	p.V1368E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1368	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACACCTGTGACCACTTCT	0.453000													50	477					0	0	0.139131	0	0
SCN1A	6323	broad.mit.edu	37	2	166900214	166900214	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:166900214C>G	ENST00000423058.2	-	11	2025	c.2008G>C	c.(2008-2010)Gag>Cag	p.E670Q	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E670Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.E670Q|SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	670				E -> G (in Ref. 2; AAK00217).		voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTATCACCTCTGGCAGAAGC	0.473000													9	60					0	0	0.047766	0	0
ABCA13	154664	broad.mit.edu	37	7	48335303	48335303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:48335303G>T	ENST00000435803.1	+	21	8986	c.8962G>T	c.(8962-8964)Gaa>Taa	p.E2988*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2988					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTAGGAAATTGAAAAGATATG	0.373000													17	107					6.94344e-10	7.98496e-10	0.175082	1	0
NALCN	259232	broad.mit.edu	37	13	101763501	101763501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:101763501G>A	ENST00000251127.6	-	19	2350	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	757						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATATGATGCTGCACGCTGAGG	0.522000													30	337					0	0	0.153744	0	0
DROSHA	29102	broad.mit.edu	37	5	31508880	31508880	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:31508880T>A	ENST00000511367.2	-	9	1679	c.1435A>T	c.(1435-1437)Agt>Tgt	p.S479C	DROSHA_ENST00000442743.1_Missense_Mutation_p.S442C|DROSHA_ENST00000344624.3_Missense_Mutation_p.S479C|DROSHA_ENST00000513349.1_Missense_Mutation_p.S442C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	479					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCACTGGAACTCTCTAACAGG	0.433000													17	47					0	0	0.146539	0	0
LNX2	222484	broad.mit.edu	37	13	28122507	28122507	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:28122507G>C	ENST00000316334.3	-	10	2167	c.2038C>G	c.(2038-2040)Ctg>Gtg	p.L680V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	680	PDZ 4.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATAACGGTCAGAGTGACTTTG	0.443000													3	47					0	0	0.150653	0	0
CCDC80	151887	broad.mit.edu	37	3	112357282	112357282	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:112357282T>C	ENST00000206423.3	-	2	2424	c.1471A>G	c.(1471-1473)Aaa>Gaa	p.K491E	CCDC80_ENST00000439685.2_Missense_Mutation_p.K491E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	491	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTGGGAGGTTTCTCCTTTGCT	0.567000													14	152					0	0	0.132662	0	0
DCAF12	25853	broad.mit.edu	37	9	34107382	34107382	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:34107382G>T	ENST00000361264.4	-	3	856	c.515C>A	c.(514-516)aCg>aAg	p.T172K	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	172						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AGGATCCAGCGTAGGTAGTCG	0.498000													9	133					0.00448238	0.00461488	0.047766	1	0
PHF20	51230	broad.mit.edu	37	20	34446277	34446277	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:34446277C>A	ENST00000374012.3	+	5	523	c.394C>A	c.(394-396)Cat>Aat	p.H132N	PHF20_ENST00000439301.1_Missense_Mutation_p.H132N|PHF20_ENST00000481202.1_Intron			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CAAACATATTCATGTCAAAGC	0.303000													17	149					4.30721e-22	5.14754e-22	0.219247	1	0
ATP1A3	478	broad.mit.edu	37	19	42482219	42482219	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:42482219G>A	ENST00000545399.1	-	14	2004	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	ATP1A3_ENST00000302102.5_Silent_p.I604I|ATP1A3_ENST00000602133.1_Silent_p.I574I|ATP1A3_ENST00000543770.1_Silent_p.I615I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	604					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGGTGACCATGATGACCTGCA	0.637000													17	188					0	0	0.189662	0	0
ADNP	23394	broad.mit.edu	37	20	49509924	49509924	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:49509924T>G	ENST00000396029.3	-	5	1894	c.1327A>C	c.(1327-1329)Act>Cct	p.T443P	ADNP_ENST00000349014.3_Missense_Mutation_p.T443P|ADNP_ENST00000396032.3_Missense_Mutation_p.T443P|ADNP_ENST00000371602.4_Missense_Mutation_p.T443P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CACTTTTGAGTTGAGGAAGTG	0.463000													15	280					0	0	0.132662	0	0
GRIN3B	116444	broad.mit.edu	37	19	1008686	1008686	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:1008686C>G	ENST00000234389.3	+	7	2555	c.2536C>G	c.(2536-2538)Ctg>Gtg	p.L846V		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	846					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGGCAGCGCTCTGCTCAGCTC	0.687000													3	42					0	0	0.150653	0	0
TSKS	60385	broad.mit.edu	37	19	50247521	50247521	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:50247521C>A	ENST00000246801.3	-	8	1410	c.1328G>T	c.(1327-1329)cGg>cTg	p.R443L	TSKS_ENST00000358830.3_Missense_Mutation_p.R243L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	443							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTGGTGGGACCGATCCAGGTT	0.587000													21	75					1.55795e-14	1.84561e-14	0.234183	1	0
HIST3H2A	92815	broad.mit.edu	37	1	228645308	228645308	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:228645308C>T	ENST00000366695.2	-	1	252	c.211G>A	c.(211-213)Gcg>Acg	p.A71T		NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	71					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				TTGTCGCGCGCCGCGTTGCCG	0.677000													8	111					0	0	0.278610	0	0
ROCK2	9475	broad.mit.edu	37	2	11355002	11355002	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:11355002G>C	ENST00000315872.6	-	16	2348	c.1900C>G	c.(1900-1902)Cga>Gga	p.R634G	ROCK2_ENST00000401753.1_Missense_Mutation_p.R391G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	634	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCATGGGTTCGATCCCTCCTT	0.333000													8	98					0	0	0.047766	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805095	44805095	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:44805095T>A	ENST00000309315.4	+	16	2282	c.2159T>A	c.(2158-2160)aTc>aAc	p.I720N	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.I720N|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.I688N|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.I694N|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.I662N	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	720					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGGAGATGATCGCCGCCCTG	0.692000													5	30					0	0	0.184627	0	0
GABRA1	2554	broad.mit.edu	37	5	161324242	161324242	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:161324242A>G	ENST00000428797.2	+	11	1540	c.1185A>G	c.(1183-1185)atA>atG	p.I395M	GABRA1_ENST00000393943.4_Missense_Mutation_p.I395M|GABRA1_ENST00000444819.1_Missense_Mutation_p.I395M|GABRA1_ENST00000023897.6_Missense_Mutation_p.I395M|GABRA1_ENST00000437025.2_Missense_Mutation_p.I395M|GABRA1_ENST00000420560.1_Missense_Mutation_p.I395M	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	395					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTGCAACCATAGAACCTAAAG	0.478000													22	117					0	0	0.234183	0	0
NEB	4703	broad.mit.edu	37	2	152374833	152374833	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:152374833A>G	ENST00000427231.2	-	156	23001	c.22799T>C	c.(22798-22800)aTa>aCa	p.I7600T	NEB_ENST00000172853.10_Splice_Site_p.I5899T|NEB_ENST00000409198.1_Splice_Site_p.I5899T|NEB_ENST00000604864.1_Splice_Site_p.I7600T|NEB_ENST00000397345.3_Splice_Site_p.I7600T|NEB_ENST00000603639.1_Splice_Site_p.I7600T	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5899					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCACTTACTATACTCTGTAA	0.408000													30	277					0	0	0.144211	0	0
PDS5B	23047	broad.mit.edu	37	13	33315221	33315221	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:33315221C>A	ENST00000315596.10	+	22	2596	c.2410C>A	c.(2410-2412)Cca>Aca	p.P804T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	804					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTTTAGCTTCCAGGGAAAAA	0.303000													7	67					1.06961e-07	1.21176e-07	0.278610	1	0
KRT2	3849	broad.mit.edu	37	12	53042076	53042076	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:53042076G>A	ENST00000309680.3	-	5	1024	c.1003C>T	c.(1003-1005)Ctc>Ttc	p.L335F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	335	Linker 12.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCATGGAGAGGATGACGTTG	0.532000													14	196					0	0	0.105934	0	0
FGD6	55785	broad.mit.edu	37	12	95604663	95604663	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:95604663A>C	ENST00000343958.4	-	2	620	c.397T>G	c.(397-399)Tta>Gta	p.L133V	FGD6_ENST00000549499.1_Missense_Mutation_p.L133V|FGD6_ENST00000546711.1_Missense_Mutation_p.L133V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	133					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGGGGCTCTAAAACAAGCTGC	0.353000													17	177					0	0	0.146539	0	0
IL4R	3566	broad.mit.edu	37	16	27353559	27353559	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:27353559A>G	ENST00000395762.2	+	4	447	c.188A>G	c.(187-189)cAg>cGg	p.Q63R	IL4R_ENST00000543915.2_Missense_Mutation_p.Q63R|IL4R_ENST00000170630.2_Missense_Mutation_p.Q63R|IL4R_ENST00000380922.3_Missense_Mutation_p.Q48R|IL4R_ENST00000449195.1_Missense_Mutation_p.Q63R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	63					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTGTTGTACCAGCTGGTTTTT	0.582000													10	115					0	0	0.080935	0	0
RGL4	266747	broad.mit.edu	37	22	24038812	24038812	+	Silent	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:24038812T>C	ENST00000290691.5	+	7	2268	c.1098T>C	c.(1096-1098)ttT>ttC	p.F366F	RGL4_ENST00000401461.1_Silent_p.F230F|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	366	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CGGGGAGCTTTAAGGTGGCCA	0.647000													6	43					0	0	0.217242	0	0
BRSK2	9024	broad.mit.edu	37	11	1432696	1432696	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:1432696C>T	ENST00000382179.1	+	1	315	c.62C>T	c.(61-63)tCc>tTc	p.S21F	BRSK2_ENST00000528710.1_Intron|BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000308219.9_Intron|BRSK2_ENST00000528841.1_Intron	NM_001256630.1	NP_001243559.1	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	0	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ATCTGTCCTTCCTCCCTCTGC	0.706000													33	29					0	0	0.183431	0	0
ZFP82	284406	broad.mit.edu	37	19	36884397	36884397	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:36884397T>C	ENST00000392161.3	-	5	1087	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	ZFP82_ENST00000392171.1_Missense_Mutation_p.Y282C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTACACACATAGGGTTTCTC	0.438000													42	181					0	0	0.257332	0	0
HIRIP3	8479	broad.mit.edu	37	16	30004688	30004688	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:30004688C>T	ENST00000279392.3	-	7	2341	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	504					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTGCGTGGCCGGCCTAGGGG	0.617000													18	105					0	0	0.175082	0	0
ZNF474	133923	broad.mit.edu	37	5	121488577	121488577	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:121488577C>A	ENST00000296600.4	+	2	1275	c.892C>A	c.(892-894)Cgc>Agc	p.R298S	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	298						intracellular	zinc ion binding	p.R298C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TACCTCAGACCGCCTCCTGGT	0.473000													6	59					0.00198382	0.00205461	0.248553	1	0
SEC16A	9919	broad.mit.edu	37	9	139369694	139369694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:139369694C>A	ENST00000313050.7	-	1	2447	c.2374G>T	c.(2374-2376)Gag>Tag	p.E792*	SEC16A_ENST00000371706.3_Nonsense_Mutation_p.E614*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E614*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E614*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	614					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGAGGATTCTCAAGGTTCTCA	0.582000													16	33					4.14922e-12	4.84937e-12	0.146539	1	0
WDR54	84058	broad.mit.edu	37	2	74649500	74649500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:74649500C>T	ENST00000348227.4	+	2	308	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	74										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACTTATCACTCAGGTGAGGCA	0.592000													9	41					0	0	0.047766	0	0
OR2A25	392138	broad.mit.edu	37	7	143772158	143772158	+	Silent	SNP	C	C	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:143772158C>A	ENST00000408898.2	+	1	884	c.846C>A	c.(844-846)ccC>ccA	p.P282P		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTTCAATCCCATGCTTAATC	0.423000													39	387					1.47244e-24	1.76664e-24	0.235728	1	0
POLR2B	5431	broad.mit.edu	37	4	57897110	57897110	+	Missense_Mutation	SNP	G	G	A	rs9632		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:57897110G>A	ENST00000381227.1	+	26	3894	c.3481G>A	c.(3481-3483)Gaa>Aaa	p.E1161K	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000295666.4_3'UTR|POLR2B_ENST00000441246.2_Missense_Mutation_p.E1154K|POLR2B_ENST00000431623.2_Missense_Mutation_p.E1086K|POLR2B_ENST00000314595.5_Missense_Mutation_p.E1161K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1161					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATTGTTTCAGGAACTTATGTC	0.348000													9	95					0	0	0.058154	0	0
ATR	545	broad.mit.edu	37	3	142257461	142257461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:142257461C>T	ENST00000350721.4	-	19	3709	c.3588G>A	c.(3586-3588)tgG>tgA	p.W1196*	ATR_ENST00000383101.3_Nonsense_Mutation_p.W1132*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1196					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAAAGCAGTCCCAAGCTCTAT	0.358000								Other conserved DNA damage response genes					39	76					0	0	0.225048	0	0
PTPRD	5789	broad.mit.edu	37	9	8518002	8518002	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:8518002G>A	ENST00000381196.4	-	18	1932	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	PTPRD_ENST00000355233.5_Silent_p.V463V|PTPRD_ENST00000397617.3_Silent_p.V453V|PTPRD_ENST00000397606.3_Silent_p.V453V|PTPRD_ENST00000356435.5_Silent_p.V463V|PTPRD_ENST00000360074.4_Silent_p.V450V|PTPRD_ENST00000397611.3_Silent_p.V460V|PTPRD_ENST00000358503.5_Silent_p.V450V|PTPRD_ENST00000537002.1_Silent_p.V460V|PTPRD_ENST00000486161.1_Silent_p.V463V|PTPRD_ENST00000540109.1_Silent_p.V463V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	463	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCAGTTGTTGACATGTTGAG	0.418000										TSP Lung(15;0.13)			18	247					0	0	0.160694	0	0
CYTH4	27128	broad.mit.edu	37	22	37707527	37707527	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:37707527G>C	ENST00000248901.6	+	11	1103	c.916G>C	c.(916-918)Gag>Cag	p.E306Q		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	306	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TATACCTCTTGAGAACCTCTC	0.562000													5	46					0	0	0.217242	0	0
MRE11A	4361	broad.mit.edu	37	11	94197307	94197307	+	Silent	SNP	G	G	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:94197307G>A	ENST00000323929.3	-	11	1419	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	MRE11A_ENST00000393241.4_Silent_p.F399F|MRE11A_ENST00000323977.3_Silent_p.F399F|MRE11A_ENST00000407439.3_Silent_p.F402F	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	399					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTCTATGCCTGAAAAAATGGA	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				16	118					0	0	0.160694	0	0
SH2D5	400745	broad.mit.edu	37	1	21050734	21050734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:21050734delG	ENST00000375031.1	-	6	1013	c.389delC	c.(388-390)ccafs	p.P130fs	SH2D5_ENST00000444387.2_Frame_Shift_Del_p.P214fs|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	130										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCGACTCTGGCAGCTCCTT	0.652													14	169	---	---	---	---					
TRIM63	84676	broad.mit.edu	37	1	26386835	26386836	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:26386835_26386836delAC	ENST00000374272.3	-	4	656_657	c.518_519delGT	c.(517-519)tgtfs	p.C173fs		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	173	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GCATGGAGATACAGTTATTCAG	0.559													18	123	---	---	---	---					
ZNF644	84146	broad.mit.edu	37	1	91406038	91406039	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:91406038_91406039delTC	ENST00000370440.1	-	3	1089_1090	c.872_873delGA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000337393.5_Frame_Shift_Del_p.R291fs|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTTCGCTTTCTTTTTTTTTC	0.337													9	98	---	---	---	---					
RBM15	64783	broad.mit.edu	37	1	110882692	110882693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr1:110882692_110882693insC	ENST00000369784.3	+	1	1565_1566	c.665_666insC	c.(664-669)ttccggfs	p.R223fs	RBM15_ENST00000602849.1_Frame_Shift_Ins_p.R223fs|RBM15_ENST00000487146.2_Frame_Shift_Ins_p.R223fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	223	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTTGTGAACTTCCGGCGGCCAG	0.594			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	110	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168100309	168100309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr2:168100309delG	ENST00000409195.1	+	9	2496	c.2407delG	c.(2407-2409)ggtfs	p.G804fs	XIRP2_ENST00000295237.9_Frame_Shift_Del_p.G804fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.G582fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	629					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATGTCAAAGGTGGGGTGAG	0.383													8	145	---	---	---	---					
DNAH1	25981	broad.mit.edu	37	3	52433150	52433153	+	Frame_Shift_Del	DEL	CAGG	CAGG	-	rs61734637	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:52433150_52433153delCAGG	ENST00000420323.2	+	76	12635_12638	c.12374_12377delCAGG	c.(12373-12378)acaggcfs	p.TG4125fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4190					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTTTCTTAACAGGCACTCTGCAG	0.534													194	533	---	---	---	---					
TMF1	7110	broad.mit.edu	37	3	69082857	69082860	+	Splice_Site	DEL	TGAA	TGAA	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:69082857_69082860delTGAA	ENST00000543976.1	-	10	2500		c.e10-2		CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Splice_Site	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTGGAGTCTCTGAATCATGAAATT	0.368													7	84	---	---	---	---					
ECT2	1894	broad.mit.edu	37	3	172473107	172473108	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr3:172473107_172473108delAA	ENST00000417960.1	+	4	627_628	c.150_151delAA	c.(148-153)acaagafs	p.R51fs	ECT2_ENST00000392692.3_Frame_Shift_Del_p.R52fs|ECT2_ENST00000441497.2_Frame_Shift_Del_p.R52fs|ECT2_ENST00000232458.5_Frame_Shift_Del_p.R52fs|ECT2_ENST00000540509.1_Frame_Shift_Del_p.R52fs|ECT2_ENST00000427830.1_Frame_Shift_Del_p.R52fs	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	52					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGATTGAAACAAGAGTGATATT	0.317													9	91	---	---	---	---					
BOD1L1	259282	broad.mit.edu	37	4	13605052	13605055	+	Frame_Shift_Del	DEL	TTTT	TTTT	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:13605052_13605055delTTTT	ENST00000040738.5	-	10	3604_3607	c.3469_3472delAAAA	c.(3469-3474)aaaactfs	p.KT1157fs		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1157							DNA binding										GTGGCAGAAGTTTTTTGTTTCATA	0.392													20	150	---	---	---	---					
SPARCL1	8404	broad.mit.edu	37	4	88411962	88411965	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr4:88411962_88411965delAGTG	ENST00000418378.1	-	7	1928_1931	c.1357_1360delCACT	c.(1357-1362)cactgtfs	p.HC453fs	SPARCL1_ENST00000282470.6_Frame_Shift_Del_p.HC453fs|SPARCL1_ENST00000503414.1_Frame_Shift_Del_p.HC328fs	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	453	Follistatin-like.|Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGGCAGACACAGTGAGGTTTTCCC	0.441													7	212	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133481949	133481950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr5:133481949_133481950insA	ENST00000395029.1	+	11	1378_1379	c.1183_1184insA	c.(1183-1185)gaafs	p.E395fs	TCF7_ENST00000520958.1_Frame_Shift_Ins_p.K256fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.E280fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.K371fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.K256fs|TCF7_ENST00000378560.4_3'UTR			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	137					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTACCCGGAGAAGGCCGCTGC	0.545											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	332	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48313594	48313595	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:48313594_48313595insA	ENST00000435803.1	+	17	4355_4356	c.4331_4332insA	c.(4330-4335)ataaaafs	p.IK1444fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1444					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTTAAATATAAAAAAACCTC	0.267													7	74	---	---	---	---					
ZNF479	90827	broad.mit.edu	37	7	57188837	57188837	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:57188837delT	ENST00000331162.4	-	5	555	c.285delA	c.(283-285)caafs	p.Q95fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCTGAAGGTCTTGGGTGAAAT	0.343													19	121	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					
DBF4	10926	broad.mit.edu	37	7	87536681	87536682	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr7:87536681_87536682insT	ENST00000265728.1	+	12	1732_1733	c.1228_1229insT	c.(1228-1230)ctgfs	p.L410fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	410					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAAAAAGCTCCTGTTTATTTCA	0.386													19	123	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103282413	103282414	+	Splice_Site	DEL	TG	TG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:103282413_103282414delTG	ENST00000520539.1	-	50	7692		c.e50-2		UBR5_ENST00000518205.1_Splice_Site|UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000220959.4_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTAAAGTCTCTGTAAGAGAAGG	0.406													10	158	---	---	---	---					
OXR1	55074	broad.mit.edu	37	8	107715282	107715283	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:107715282_107715283delAA	ENST00000445937.1	+	8	1085_1086	c.824_825delAA	c.(823-825)gaafs	p.E275fs	OXR1_ENST00000497705.1_Frame_Shift_Del_p.E208fs|OXR1_ENST00000517566.2_Frame_Shift_Del_p.E275fs|OXR1_ENST00000312046.6_Frame_Shift_Del_p.E268fs|OXR1_ENST00000442977.2_Frame_Shift_Del_p.E276fs|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Frame_Shift_Del_p.E275fs	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	276	GRAM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATGTACAAAGAAATTTTGGATA	0.356													13	119	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116427254	116427256	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr8:116427254_116427256delCTC	ENST00000395715.3	-	7	3457_3459	c.2880_2882delGAG	c.(2878-2883)aggaga>aga	p.960_961RR>R	TRPS1_ENST00000520276.1_In_Frame_Del_p.951_952RR>R|TRPS1_ENST00000519076.1_In_Frame_Del_p.701_702RR>R|TRPS1_ENST00000220888.5_In_Frame_Del_p.947_948RR>R	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	947					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTTCTTGTTCTCCTCCTAATAA	0.438									Langer-Giedion syndrome				16	216	---	---	---	---					
JAK2	3717	broad.mit.edu	37	9	5072612	5072613	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:5072612_5072613delAG	ENST00000381652.3	+	13	2256_2257	c.1762_1763delAG	c.(1762-1764)agafs	p.R588fs	JAK2_ENST00000544510.1_Frame_Shift_Del_p.R439fs|JAK2_ENST00000539801.1_Frame_Shift_Del_p.R588fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	588	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.R588I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TAAAGCACACAGAAACTATTCA	0.361		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				7	93	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	50	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													8	27	---	---	---	---					
CNTNAP3	79937	broad.mit.edu	37	9	39166042	39166043	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr9:39166042_39166043delAG	ENST00000297668.6	-	9	1437_1438	c.1364_1365delCT	c.(1363-1365)tctfs	p.S455fs	CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.S455fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.S455fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.S367fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.S455fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	455	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAAGGACACAGAGTGCCACTG	0.470													4	8	---	---	---	---					
KCNMA1	3778	broad.mit.edu	37	10	78708914	78708915	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:78708914_78708915insT	ENST00000286627.5	-	21	3472_3473	c.2520_2521insA	c.(2518-2523)aaagtgfs	p.V841fs	KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.V841fs|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.V841fs|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.V903fs|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.V902fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.V899fs|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.V899fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.V882fs	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	899	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AATATGGACACTTTGGGGAAGT	0.421													59	190	---	---	---	---					
TMEM180	79847	broad.mit.edu	37	10	104230693	104230694	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr10:104230693_104230694delCT	ENST00000238936.4	+	5	760_761	c.523_524delCT	c.(523-525)ctcfs	p.L175fs	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	175						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCGGCTCCCTCTCTGTCTTT	0.609													23	158	---	---	---	---					
NEU3	10825	broad.mit.edu	37	11	74716601	74716602	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr11:74716601_74716602delTG	ENST00000294064.4	+	3	1377_1378	c.450_451delTG	c.(448-453)attgtgfs	p.V151fs	NEU3_ENST00000532963.1_Frame_Shift_Del_p.C80fs|NEU3_ENST00000531509.1_Frame_Shift_Del_p.V151fs|NEU3_ENST00000529024.1_Frame_Shift_Del_p.C80fs|NEU3_ENST00000544263.1_Frame_Shift_Del_p.V118fs|NEU3_ENST00000545272.1_Frame_Shift_Del_p.V42fs	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	151										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTCAACAGATTGTGTCAGGCAG	0.535													10	98	---	---	---	---					
SCYL2	55681	broad.mit.edu	37	12	100708346	100708347	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:100708346_100708347delCA	ENST00000360820.2	+	8	1486_1487	c.1049_1050delCA	c.(1048-1050)tcafs	p.S350fs		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	350					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CTTCAGAAATCACAGTTTTTCA	0.307													8	79	---	---	---	---					
C12orf45	121053	broad.mit.edu	37	12	105385508	105385509	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr12:105385508_105385509insCA	ENST00000552951.1	+	3	264_265	c.221_222insCA	c.(220-225)acatttfs	p.F75fs	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	75										large_intestine(1)|lung(2)	3						CAGGTACAGACATTTCTCCCAC	0.396													13	62	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:23914687delT	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													7	510	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46542030	46542033	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr13:46542030_46542033delCTCT	ENST00000242848.4	-	15	4275_4278	c.3927_3930delAGAG	c.(3925-3930)agagagfs	p.RE1313fs	ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.RE269fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.RE1313fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1313							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctcgcgctctctgtcGTGTT	0.495													14	146	---	---	---	---					
PTPN21	11099	broad.mit.edu	37	14	88951495	88951495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr14:88951495delG	ENST00000556564.1	-	12	1287	c.1003delC	c.(1003-1005)cagfs	p.Q335fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.Q335fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	335						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACGTAGGGCTGGGGTTTAGGC	0.418													12	32	---	---	---	---					
TUBGCP5	114791	broad.mit.edu	37	15	22863108	22863109	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:22863108_22863109insA	ENST00000283645.4	+	15	2259_2260	c.2129_2130insA	c.(2128-2133)ctaaaafs	p.LK710fs	TUBGCP5_ENST00000453949.2_Frame_Shift_Ins_p.LK710fs|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	710					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATGCAAACTCTAAAAAAAGATT	0.322													16	117	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34060893	34060894	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr15:34060893_34060894delAG	ENST00000389232.4	+	61	8810_8811	c.8740_8741delAG	c.(8740-8742)agafs	p.R2914fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.R2914fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2914					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGTTAGACACAGAATTTCCCTC	0.441													14	141	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4920909	4920911	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:4920909_4920911delGAA	ENST00000396658.4	+	10	2198_2200	c.1495_1497delGAA	c.(1495-1497)gaadel	p.E500del	UBN1_ENST00000590769.1_In_Frame_Del_p.E500del|UBN1_ENST00000262376.6_In_Frame_Del_p.E500del|UBN1_ENST00000545171.1_In_Frame_Del_p.E500del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	500					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.E499*(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGAAGAAGATGAAGAAAAAGGGG	0.517													9	73	---	---	---	---					
PSKH1	5681	broad.mit.edu	37	16	67942746	67942746	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr16:67942746delA	ENST00000291041.5	+	2	264	c.94delA	c.(94-96)agtfs	p.S32fs		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	32						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TGGCACTAAGAGTGACGTGTA	0.587													7	50	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29220717	29220721	+	Frame_Shift_Del	DEL	AAAGG	AAAGG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:29220717_29220721delAAAGG	ENST00000321990.4	+	21	5224_5228	c.4846_4850delAAAGG	c.(4846-4851)aaaggafs	p.KG1616fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1616					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCCAGAGACAAAGGAAACAATCCA	0.395													18	139	---	---	---	---					
TMEM132E	124842	broad.mit.edu	37	17	32954055	32954055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:32954055delG	ENST00000321639.5	+	3	1035	c.707delG	c.(706-708)agcfs	p.S236fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	236						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCCAGCCCCAGCGTGGAGCAC	0.602													8	70	---	---	---	---					
RNF213	57674	broad.mit.edu	37	17	78327415	78327416	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr17:78327415_78327416delAG	ENST00000582970.1	+	34	10670_10671	c.10527_10528delAG	c.(10525-10530)acagaafs	p.E3510fs	RNF213_ENST00000336301.6_Frame_Shift_Del_p.E1583fs|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Frame_Shift_Del_p.E3559fs	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCATGGAAACAGAAAGTTCTGA	0.579													9	53	---	---	---	---					
TLE2	7089	broad.mit.edu	37	19	3014596	3014597	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:3014596_3014597delTT	ENST00000262953.6	-	10	956_957	c.694_695delAA	c.(694-696)aagfs	p.K232fs	TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000426948.2_Frame_Shift_Del_p.K246fs|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Frame_Shift_Del_p.K110fs|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Frame_Shift_Del_p.K233fs|TLE2_ENST00000591529.1_Frame_Shift_Del_p.K246fs|TLE2_ENST00000443826.3_Frame_Shift_Del_p.K110fs	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	232	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAATCACTCTTGTCTTCGTCG	0.599													10	17	---	---	---	---					
SAFB	6294	broad.mit.edu	37	19	5654461	5654462	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:5654461_5654462delAG	ENST00000292123.5	+	13	1856_1857	c.1749_1750delAG	c.(1747-1752)aaagagfs	p.E584fs	SAFB_ENST00000538656.1_Frame_Shift_Del_p.E427fs|SAFB_ENST00000433404.1_Frame_Shift_Del_p.E414fs|SAFB_ENST00000592224.1_Frame_Shift_Del_p.E584fs|SAFB_ENST00000588852.1_Frame_Shift_Del_p.E584fs|SAFB_ENST00000454510.1_Frame_Shift_Del_p.E515fs	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	584	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGGGTCCAAAGAGAGAGTGAG	0.406													8	189	---	---	---	---					
KLK8	11202	broad.mit.edu	37	19	51503726	51503726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr19:51503726delG	ENST00000600767.1	-	4	673	c.184delC	c.(184-186)cttfs	p.L62fs	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Frame_Shift_Del_p.L62fs|KLK8_ENST00000391806.2_Frame_Shift_Del_p.L107fs|KLK8_ENST00000593490.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	62	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CCACCTACAAGGACACCGCCA	0.597													19	170	---	---	---	---					
ANKEF1	63926	broad.mit.edu	37	20	10033833	10033836	+	Frame_Shift_Del	DEL	TAAC	TAAC	-	rs13037638		TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr20:10033833_10033836delTAAC	ENST00000378380.3	+	8	2273_2276	c.1944_1947delTAAC	c.(1942-1947)gataacfs	p.DN648fs	ANKEF1_ENST00000378392.1_Frame_Shift_Del_p.DN648fs|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AAAAGCTAGATAACTTGCCGAAAC	0.363													38	141	---	---	---	---					
AP1B1	162	broad.mit.edu	37	22	29746080	29746081	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chr22:29746080_29746081delAT	ENST00000357586.2	-	10	1400_1401	c.1214_1215delAT	c.(1213-1215)tatfs	p.Y405fs	AP1B1_ENST00000415447.1_Frame_Shift_Del_p.Y405fs|AP1B1_ENST00000402502.1_Frame_Shift_Del_p.Y405fs|AP1B1_ENST00000405198.1_Frame_Shift_Del_p.Y405fs|AP1B1_ENST00000432560.2_Frame_Shift_Del_p.Y405fs|AP1B1_ENST00000356015.2_Frame_Shift_Del_p.Y405fs|AP1B1_ENST00000317368.7_Frame_Shift_Del_p.Y405fs	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	405					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTGGACCACATAGTTGACCTT	0.609													15	105	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41200823	41200824	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-UY-A78K-01A-11D-A339-08	TCGA-UY-A78K-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7408d48b-d2bd-4f68-b436-6a412ff49d79	57598d19-190c-4da9-9369-a459f1608338	g.chrX:41200823_41200824delGG	ENST00000399959.2	+	4	1093_1094	c.238_239delGG	c.(238-240)gggfs	p.G80fs	DDX3X_ENST00000457138.2_Frame_Shift_Del_p.G64fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Frame_Shift_Del_p.G80fs|DDX3X_ENST00000542215.1_Frame_Shift_Del_p.G124fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	80					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGATTCAAGAGGGAAGTCTAGC	0.381										HNSCC(61;0.18)			10	66	---	---	---	---					
