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
TNRC6C	57690	broad.mit.edu	37	17	76047083	76047083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:76047083C>T	ENST00000335749.4	+	3	2509	c.1940C>T	c.(1939-1941)aCa>aTa	p.T647I	TNRC6C_ENST00000588061.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.T647I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.T647I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.T647I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	647	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCACAAATACAAAGGCCAAT	0.502000													29	36					0	0	0.030593	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616680	77616680	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:77616680A>C	ENST00000521891.2	+	2	805	c.357A>C	c.(355-357)ttA>ttC	p.L119F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L119F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L119F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L119F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAGCGAGTTAGAGGACAGTG	0.483000										HNSCC(33;0.089)			25	177					0	0	0.021523	0	0
SPEG	10290	broad.mit.edu	37	2	220353543	220353543	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:220353543C>T	ENST00000312358.7	+	34	8202	c.8070C>T	c.(8068-8070)taC>taT	p.Y2690Y	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2690	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCTACCAGGACACGG	0.612000													14	24					0	0	0.020292	0	0
ZNF624	57547	broad.mit.edu	37	17	16527501	16527501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527501C>G	ENST00000311331.7	-	6	790	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATTTAAATTCTCTGTGAAAT	0.393000													82	91					0	0	0.014410	0	0
FBXO25	26260	broad.mit.edu	37	8	385664	385664	+	Nonsense_Mutation	SNP	C	C	G	rs140242296	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:385664C>G	ENST00000352684.2	+	4	554	c.137C>G	c.(136-138)tCa>tGa	p.S46*	FBXO25_ENST00000276326.5_Nonsense_Mutation_p.S113*|FBXO25_ENST00000382824.1_Nonsense_Mutation_p.S46*|FBXO25_ENST00000350302.3_Nonsense_Mutation_p.S113*	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	113	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTAGACTTCTCAAGTGCAATT	0.348000													49	40					0	0	0.014410	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128585	3128585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:3128585C>T	ENST00000380266.3	-	2	1453	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	378					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						GCTATCTCTCCAATCTGCTTC	0.443000													32	133					0	0	0.009535	0	0
XPO7	23039	broad.mit.edu	37	8	21840321	21840321	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21840321G>A	ENST00000434536.1	+	11	1404	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	XPO7_ENST00000252512.9_Silent_p.L425L|XPO7_ENST00000433566.4_Silent_p.L426L			Q9UIA9	XPO7_HUMAN	exportin 7	425				Missing (in Ref. 3; BAA34465).	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)		ACATCATACTGAGGTAAGGAA	0.507000													40	45					0	0	0.025465	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409306	17409306	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:17409306G>A	ENST00000339994.4	-	1	900	c.333C>T	c.(331-333)gtC>gtT	p.V111V	KCNJ11_ENST00000528731.1_Silent_p.V24V	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	24						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GGATGCTGGTGACACAGGGCT	0.622000													32	51					0	0	0.013726	0	0
DHDDS	79947	broad.mit.edu	37	1	26772806	26772806	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:26772806G>A	ENST00000360009.2	+	5	400		c.e5-1		DHDDS_ENST00000525682.2_Splice_Site|DHDDS_ENST00000427245.2_Splice_Site|DHDDS_ENST00000236342.7_Splice_Site|DHDDS_ENST00000374185.3_Splice_Site|DHDDS_ENST00000526219.1_Intron	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase								protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCCCTGATCAGGGAGAAACTG	0.542000													13	61					0	0	0.016723	0	0
ACAD10	80724	broad.mit.edu	37	12	112182844	112182844	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112182844C>T	ENST00000455480.2	+	14	2382	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.L306L|ACAD10_ENST00000549590.1_Silent_p.L704L|ACAD10_ENST00000313698.4_Silent_p.L704L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	704							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCGAAGACCTCAAGGTAAAGC	0.592000													29	84					0	0	0.030593	0	0
PDZD2	23037	broad.mit.edu	37	5	32074145	32074145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:32074145G>C	ENST00000438447.1	+	18	3321	c.2933G>C	c.(2932-2934)aGa>aCa	p.R978T	PDZD2_ENST00000282493.3_Missense_Mutation_p.R978T			O15018	PDZD2_HUMAN	PDZ domain containing 2	978					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGTTTGACAGAGAAGGGGAC	0.607000													33	53					0	0	0.009535	0	0
DDX21	9188	broad.mit.edu	37	10	70738718	70738718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:70738718C>G	ENST00000354185.4	+	13	2121	c.2023C>G	c.(2023-2025)Ctc>Gtc	p.L675V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	675						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATGGTTTTTCTCAAAGGAAA	0.458000													32	151					0	0	0.017118	0	0
MROH8	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:35731106C>T	ENST00000400441.3	-	24	3112	c.3113G>A	c.(3112-3114)gGc>gAc	p.G1038D	MROH8_ENST00000217333.8_Missense_Mutation_p.G867D|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR					maestro heat-like repeat family member 8																		AGAGGACCTGCCCATGAGCTT	0.512000													208	525					0	0	0.014410	0	0
ALPK1	80216	broad.mit.edu	37	4	113352240	113352240	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:113352240C>G	ENST00000458497.1	+	11	1816	c.1537C>G	c.(1537-1539)Caa>Gaa	p.Q513E	ALPK1_ENST00000177648.9_Missense_Mutation_p.Q513E|ALPK1_ENST00000504176.2_Missense_Mutation_p.Q435E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	513							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCCACATTGTCAAAGAGACAC	0.408000													30	29					0	0	0.037714	0	0
LIPC	3990	broad.mit.edu	37	15	58834842	58834842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:58834842G>A	ENST00000414170.3	+	5	853	c.566G>A	c.(565-567)aGa>aAa	p.R189K	LIPC_ENST00000356113.6_Missense_Mutation_p.R189K|LIPC_ENST00000299022.5_Missense_Mutation_p.R189K|LIPC_ENST00000433326.2_Missense_Mutation_p.R128K			P11150	LIPC_HUMAN	lipase, hepatic	189	Heparin-binding (Potential).				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGATTGGGAGAATCACAGGT	0.498000													37	111					0	0	0.019004	0	0
C11orf35	256329	broad.mit.edu	37	11	558000	558000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:558000G>A	ENST00000329451.3	-	5	501	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	147										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCGTGCGGGTGGTCTGC	0.672000													58	64					0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16526354	16526354	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526354C>T	ENST00000311331.7	-	6	1937	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCTCGCAGTCAGTACATTTA	0.383000													161	197					0	0	0.014410	0	0
NRG1	3084	broad.mit.edu	37	8	31498210	31498210	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:31498210A>G	ENST00000520407.1	+	1	940	c.710A>G	c.(709-711)aAg>aGg	p.K237R	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	22					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGGAACCTCAAGAAGGAGGTC	0.701000													7	37					0	0	0.006214	0	0
PHF20L1	51105	broad.mit.edu	37	8	133844494	133844494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133844494G>T	ENST00000395386.2	+	15	2058	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E562*|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	587							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTCAGACTATGAAGACAGTTC	0.368000													70	65					1.45978e-39	1.60542e-39	0.014410	1	0
PFDN6	10471	broad.mit.edu	37	6	33257970	33257970	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33257970G>A	ENST00000463584.1	+	2	166	c.84G>A	c.(82-84)tcG>tcA	p.S28S	PFDN6_ENST00000395131.1_Silent_p.S28S|PFDN6_ENST00000374607.1_Silent_p.S28S|PFDN6_ENST00000374606.5_Silent_p.S28S|PFDN6_ENST00000374610.2_Silent_p.S28S			O15212	PFD6_HUMAN	prefoldin subunit 6	28					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						AATCCATGTCGGGGAGGCAGA	0.468000													14	67					0	0	0.020292	0	0
SHISA3	152573	broad.mit.edu	37	4	42403228	42403228	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:42403228C>T	ENST00000319234.4	+	2	695	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	159					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GGGCACCCTCCCGGCAGTCCA	0.672000													93	266					0	0	0.014410	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910720	108910720	+	Missense_Mutation	SNP	G	G	C	rs144954759		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:108910720G>C	ENST00000326853.5	+	3	640	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	SULT1C2_ENST00000251481.6_Missense_Mutation_p.E63Q|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E63Q|SULT1C2_ENST00000437390.2_Missense_Mutation_p.E63Q	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	63					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGATATGATTGAACAGAATGG	0.517000													127	76					0	0	0.014410	0	0
ZNF713	349075	broad.mit.edu	37	7	55991305	55991305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:55991305C>G	ENST00000429591.2	+	3	219	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.Q61E	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			aatagggtatcagctttgtaa	0.453000													8	10					0	0	0.003080	0	0
TMCO6	55374	broad.mit.edu	37	5	140024595	140024595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140024595C>G	ENST00000394671.3	+	12	1495	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	TMCO6_ENST00000252100.6_Nonsense_Mutation_p.S471*|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.S225*|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	465					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCAGTCAGGGCTGCAA	0.537000													72	104					0	0	0.014410	0	0
SEC13	6396	broad.mit.edu	37	3	10354378	10354378	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:10354378G>A	ENST00000397117.1	-	4	750	c.159C>T	c.(157-159)caC>caT	p.H53H	SEC13_ENST00000383801.2_Silent_p.H113H|SEC13_ENST00000397109.3_Silent_p.H53H|SEC13_ENST00000337354.4_Silent_p.H70H|SEC13_ENST00000350697.3_Silent_p.H67H			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	67					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CGTACATGGGGTGAGCCCAGG	0.562000													28	180					0	0	0.010818	0	0
GRID1	2894	broad.mit.edu	37	10	87373287	87373287	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:87373287G>C	ENST00000327946.7	-	15	2563	c.2478C>G	c.(2476-2478)ctC>ctG	p.L826L	GRID1_ENST00000536331.1_Silent_p.L397L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	826						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.L826L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGTGCAGCTTGAGGGATTTGC	0.647000										Multiple Myeloma(13;0.14)			19	100					0	0	0.010504	0	0
BRWD1	54014	broad.mit.edu	37	21	40578084	40578084	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:40578084G>C	ENST00000342449.3	-	37	4392	c.4314C>G	c.(4312-4314)ttC>ttG	p.F1438L	BRWD1_ENST00000380800.3_Missense_Mutation_p.F1438L|BRWD1_ENST00000333229.2_Missense_Mutation_p.F1438L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCCGTTGCTTGAACCTCTGGC	0.318000													55	230					0	0	0.014410	0	0
GRB14	2888	broad.mit.edu	37	2	165365357	165365357	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:165365357C>T	ENST00000263915.3	-	7	1360	c.822G>A	c.(820-822)ccG>ccA	p.P274P	GRB14_ENST00000543549.1_Silent_p.P187P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	274	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAAATGCCGCGGTTCCTTAA	0.328000													20	99					0	0	0.010504	0	0
DBF4	10926	broad.mit.edu	37	7	87537236	87537236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87537236G>A	ENST00000265728.1	+	12	2287	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	595					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	p.E595K(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACCAAATGCTGAATTTGATAA	0.308000													39	45					0	0	0.030466	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776084	27776084	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:27776084C>T	ENST00000358739.3	+	1	186	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CCGAGTGCATCGCCTGCTCCG	0.667000													58	142					0	0	0.014410	0	0
DOT1L	84444	broad.mit.edu	37	19	2222099	2222099	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:2222099C>T	ENST00000398665.3	+	24	2967	c.2931C>T	c.(2929-2931)acC>acT	p.T977T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	977						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TTTTTGCCACCGTGGGGTCCC	0.701000													97	113					0	0	0.014410	0	0
TRMT13	54482	broad.mit.edu	37	1	100613733	100613733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100613733G>C	ENST00000370141.2	+	10	1107	c.1101G>C	c.(1099-1101)atG>atC	p.M367I		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		TCCAGCGAATGAGTAGTTGGG	0.433000													44	48					0	0	0.011902	0	0
EPHB3	2049	broad.mit.edu	37	3	184299313	184299313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184299313G>T	ENST00000330394.2	+	16	3352	c.2900G>T	c.(2899-2901)cGt>cTt	p.R967L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	967	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACCTGCTCCGTATTGGGGTC	0.607000													58	72					2.44813e-32	2.67377e-32	0.014410	1	0
MYPN	84665	broad.mit.edu	37	10	69925571	69925571	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:69925571G>C	ENST00000358913.5	+	9	2084	c.1596G>C	c.(1594-1596)gtG>gtC	p.V532V	MYPN_ENST00000540630.1_Silent_p.V532V|MYPN_ENST00000354393.2_Silent_p.V257V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	532						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCTGCACGTGAGAGGTAAGG	0.428000													18	117					0	0	0.014323	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410427	10410427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:10410427G>A	ENST00000379613.3	-	2	449	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	TFAP2A_ENST00000379604.2_Nonsense_Mutation_p.Q63*|TFAP2A_ENST00000497266.1_Intron|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Nonsense_Mutation_p.Q59*|TFAP2A_ENST00000482890.1_Nonsense_Mutation_p.Q63*|TFAP2A_ENST00000379608.3_Nonsense_Mutation_p.Q57*			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	63	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGATAGGCTGGTAGGGTGGG	0.657000													82	136					0	0	0.014410	0	0
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:153880627G>A	ENST00000247306.4	-	2	611	c.548C>T	c.(547-549)cCa>cTa	p.P183L	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	183	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					CGGCGGGCCTGGTGTACCAGG	0.607000													117	37					0	0	0.014410	0	0
SCTR	6344	broad.mit.edu	37	2	120204401	120204401	+	Silent	SNP	G	G	A	rs140245245		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:120204401G>A	ENST00000019103.5	-	11	1341	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	358					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGGAGAAGGCGAAGACGATGT	0.572000													30	139					0	0	0.021022	0	0
VIPR2	7434	broad.mit.edu	37	7	158824561	158824561	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:158824561C>T	ENST00000262178.2	-	12	1287		c.e12-1		VIPR2_ENST00000377633.3_Splice_Site|VIPR2_ENST00000402066.1_Splice_Site	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2						cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCACCAGGCCCTGCAATGAGA	0.597000													92	61					0	0	0.014410	0	0
AGBL1	123624	broad.mit.edu	37	15	86940646	86940646	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:86940646C>A	ENST00000441037.2	+	17	2381	c.2286C>A	c.(2284-2286)agC>agA	p.S762R	AGBL1_ENST00000389298.3_Missense_Mutation_p.S493R|AGBL1_ENST00000421325.2_Missense_Mutation_p.S762R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	762					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGGAGAGAGCAATGCCAGTT	0.453000													14	39					4.93089e-13	5.26406e-13	0.020292	1	0
STK33	65975	broad.mit.edu	37	11	8496434	8496434	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8496434C>G	ENST00000447869.1	-	1	937	c.19G>C	c.(19-21)Gat>Cat	p.D7H	STK33_ENST00000396672.1_Missense_Mutation_p.D7H|STK33_ENST00000534493.1_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.D7H|STK33_ENST00000315204.1_Missense_Mutation_p.D7H|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	7						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GATTTTTTATCTAAGCCACTA	0.393000													24	57					0	0	0.021523	0	0
DST	667	broad.mit.edu	37	6	56474031	56474031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:56474031C>G	ENST00000370754.5	-	39	5295	c.5296G>C	c.(5296-5298)Gag>Cag	p.E1766Q	DST_ENST00000312431.6_Missense_Mutation_p.E1588Q|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.E1588Q|DST_ENST00000446842.2_Missense_Mutation_p.E1262Q|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E1588Q			Q03001	DYST_HUMAN	dystonin	1588					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)			AGCTGTGTCTCAAGCAACCTA	0.393000													86	78					0	0	0.014410	0	0
DNASE2	1777	broad.mit.edu	37	19	12991823	12991823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:12991823C>T	ENST00000222219.3	-	2	322	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.R77Q	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	77					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CTGCAGGCTTCGGCCCACGGC	0.677000													71	73					0	0	0.014410	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642818	50642818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:50642818C>T	ENST00000371824.1	+	3	565	c.308C>T	c.(307-309)gCc>gTc	p.A103V	ELAVL4_ENST00000371827.1_Missense_Mutation_p.A103V|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A108V|ELAVL4_ENST00000448907.2_Missense_Mutation_p.A106V|ELAVL4_ENST00000371823.4_Missense_Mutation_p.A103V|ELAVL4_ENST00000357083.4_Missense_Mutation_p.A120V|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A108V			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	103	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCAGAGAAAGCCATCAACACT	0.408000													19	47					0	0	0.010504	0	0
EP400	57634	broad.mit.edu	37	12	132502160	132502160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132502160C>T	ENST00000333577.4	+	21	4221	c.4112C>T	c.(4111-4113)cCt>cTt	p.P1371L	EP400_ENST00000332482.4_Missense_Mutation_p.P1298L|EP400_ENST00000389562.2_Missense_Mutation_p.P1334L|EP400_ENST00000389561.2_Missense_Mutation_p.P1335L|EP400_ENST00000330386.6_Missense_Mutation_p.P1335L			Q96L91	EP400_HUMAN	E1A binding protein p400	1371					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAACCACCCTGGGCTCGTC	0.607000													95	141					0	0	0.014410	0	0
GALNT6	11226	broad.mit.edu	37	12	51757940	51757940	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:51757940C>T	ENST00000543196.2	-	5	1219	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	GALNT6_ENST00000356317.3_Silent_p.E338E			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	338					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCTCTGCTTCTCATGTGGAG	0.587000													64	105					0	0	0.014410	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546114	18546114	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:18546114C>A	ENST00000338128.8	-	10	1651	c.1434G>T	c.(1432-1434)gcG>gcT	p.A478A	ISYNA1_ENST00000317018.6_Silent_p.A276A|ISYNA1_ENST00000457269.4_Silent_p.A424A|ISYNA1_ENST00000545187.1_Silent_p.A328A|ISYNA1_ENST00000578963.1_Silent_p.A350A	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GGCGGAAAAGCGCATTGACCA	0.662000													27	387					7.01153e-11	7.41845e-11	0.034045	1	0
HTRA3	94031	broad.mit.edu	37	4	8284261	8284261	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:8284261G>A	ENST00000307358.2	+	2	687	c.483G>A	c.(481-483)ctG>ctA	p.L161L	HTRA3_ENST00000382512.3_Silent_p.L161L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	161					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AGCTCTTCCTGAGGTGGGTGA	0.617000													37	44					0	0	0.027894	0	0
C1orf177	163747	broad.mit.edu	37	1	55277826	55277826	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:55277826G>C	ENST00000358193.3	+	6	780	c.726G>C	c.(724-726)cgG>cgC	p.R242R	C1orf177_ENST00000371273.3_Silent_p.R242R	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	242										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTGGTGATCGGAGCAAGCCAC	0.577000													24	49					0	0	0.024334	0	0
MED14	9282	broad.mit.edu	37	X	40540142	40540142	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:40540142C>A	ENST00000324817.1	-	20	2596	c.2478G>T	c.(2476-2478)tcG>tcT	p.S826S	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	826					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATGGATCGAATTCCATT	0.328000													3	14					6.4e-05	6.58048e-05	0.004672	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3806003	3806003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:3806003C>A	ENST00000440314.2	-	4	636	c.163G>T	c.(163-165)Gca>Tca	p.A55S	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.A55S|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.A55S	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	55	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AACTCCTGTGCCTTCCTCAGC	0.597000													18	82					0.000175454	0.000180011	0.010504	1	0
KDM2A	22992	broad.mit.edu	37	11	66888787	66888787	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66888787G>A	ENST00000529006.2	+	0	446				KDM2A_ENST00000398645.2_De_novo_Start_InFrame	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	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|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGAGTGAGAGATGGAACCCG	0.413000													63	35					0	0	0.014410	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	56					0	0	0.014758	0	0
GRM3	2913	broad.mit.edu	37	7	86468800	86468800	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:86468800C>G	ENST00000361669.2	+	4	3069	c.1970C>G	c.(1969-1971)tCa>tGa	p.S657*	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Nonsense_Mutation_p.S249*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.S529*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	657					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)	ATCTGTTACTCAGCCCTGCTG	0.522000													38	111					0	0	0.023175	0	0
SEC16A	9919	broad.mit.edu	37	9	139368716	139368716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:139368716G>T	ENST00000313050.7	-	1	3425	c.3352C>A	c.(3352-3354)Cag>Aag	p.Q1118K	SEC16A_ENST00000290037.6_Missense_Mutation_p.Q940K|SEC16A_ENST00000371706.3_Missense_Mutation_p.Q940K|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q940K	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	940	Required for endoplasmic reticulum localization.				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)		CTAGAGGACTGAGGAGGCCGA	0.667000													26	20					4.31634e-10	4.55667e-10	0.012213	1	0
ZNF624	57547	broad.mit.edu	37	17	16526945	16526945	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526945C>G	ENST00000311331.7	-	6	1346	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCACAATCATCACATTTGTAG	0.403000													59	69					0	0	0.014410	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441201	37441201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:37441201G>C	ENST00000307750.4	-	2	1536	c.1348C>G	c.(1348-1350)Cca>Gca	p.P450A		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCAGCCTCTGGACTCAACAAA	0.517000													28	52					0	0	0.034045	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024415	55024415	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:55024415G>A	ENST00000324000.3	+	3	2608	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	192					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGCAATTTCGCCCCTACGGA	0.403000													71	56					0	0	0.014410	0	0
ITGA4	3676	broad.mit.edu	37	2	182339776	182339776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:182339776G>A	ENST00000397033.2	+	3	839	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ITGA4_ENST00000339307.4_Missense_Mutation_p.E137K|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	137					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACAGCCAGGAGAAAATGGATC	0.458000													6	26					0	0	0.003080	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039045	17039045	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17039045C>G	ENST00000443236.1	-	25	3317		c.e25-1			NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATGGCCAACCTGGAAAAAGA	0.597000													15	61					0	0	0.020292	0	0
NDRG4	65009	broad.mit.edu	37	16	58538305	58538305	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58538305C>G	ENST00000394282.4	+	6	854	c.447C>G	c.(445-447)ccC>ccG	p.P149P	NDRG4_ENST00000568640.1_Silent_p.P115P|NDRG4_ENST00000566192.1_Silent_p.P97P|NDRG4_ENST00000569923.1_Silent_p.P42P|NDRG4_ENST00000394279.2_Silent_p.P129P|NDRG4_ENST00000570248.1_Silent_p.P97P|NDRG4_ENST00000562999.1_Silent_p.P97P|NDRG4_ENST00000356752.4_Silent_p.P127P|NDRG4_ENST00000258187.5_Silent_p.P129P|NDRG4_ENST00000563799.1_Silent_p.P115P	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	97					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCATGCTCCCCAGCGTGGTGC	0.677000													215	214					0	0	0.014410	0	0
RABEP2	79874	broad.mit.edu	37	16	28925598	28925598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:28925598G>A	ENST00000358201.4	-	5	1441	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	RABEP2_ENST00000357573.6_Nonsense_Mutation_p.Q285*|RABEP2_ENST00000544477.1_Nonsense_Mutation_p.Q214*	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	285					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGGACGAGCTGGTAGCCAGGA	0.652000													26	82					0	0	0.024334	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698803	13698803	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:13698803C>T	ENST00000357447.2	-	22	3154	c.2786G>A	c.(2785-2787)cGc>cAc	p.R929H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.R929H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.R914H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	929						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GTACCACTGGCGCAGCTCGTC	0.711000													10	72					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179433265	179433265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179433265C>T	ENST00000589042.1	-	326	77818	c.77594G>A	c.(77593-77595)gGt>gAt	p.G25865D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23297D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16925D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16992D|TTN_ENST00000591111.1_Missense_Mutation_p.G24224D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16800D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24224	Fibronectin type-III 88.						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)			ATATTGTCCACCATCATCCTT	0.413000													17	56					0	0	0.033300	0	0
HCFC1R1	54985	broad.mit.edu	37	16	3073334	3073334	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3073334C>G	ENST00000248089.3	-	3	485	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	HCFC1R1_ENST00000574980.1_Missense_Mutation_p.E61Q|HCFC1R1_ENST00000354679.3_Missense_Mutation_p.E59Q|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.E61Q|HCFC1R1_ENST00000574151.1_Missense_Mutation_p.E42Q|HCFC1R1_ENST00000572355.1_Missense_Mutation_p.E21Q	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	61						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						ATGTTCTCCTCAGACAGAAAC	0.617000													94	267					0	0	0.014410	0	0
PTPN21	11099	broad.mit.edu	37	14	88938710	88938710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:88938710G>A	ENST00000556564.1	-	15	3033	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R917*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	917	Tyrosine-protein phosphatase.					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						TCAGGGAGTCGTGCTGTTGAG	0.393000													12	39					0	0	0.016723	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592610	47592610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:47592610G>A	ENST00000371917.4	+	14	1832	c.1832G>A	c.(1831-1833)aGa>aAa	p.R611K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	611					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACATGGCAAGACGGTGTAGT	0.507000													12	85					0	0	0.010729	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236220	118236220	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236220T>C	ENST00000369230.3	+	11	1375	c.1229T>C	c.(1228-1230)gTt>gCt	p.V410A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	410	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GATGTTAACGTTGGAAACATT	0.358000													59	60					0	0	0.014410	0	0
C12orf55	144535	broad.mit.edu	37	12	97051869	97051869	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051869C>T	ENST00000524981.4	+	37	5333	c.5310C>T	c.(5308-5310)ttC>ttT	p.F1770F						chromosome 12 open reading frame 55																		CCATTCAGTTCAATACAGTTT	0.303000													10	50					0	0	0.010729	0	0
GPAT2	150763	broad.mit.edu	37	2	96688908	96688908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:96688908T>G	ENST00000434632.1	-	20	2554	c.2095A>C	c.(2095-2097)Aag>Cag	p.K699Q	GPAT2_ENST00000453542.1_Missense_Mutation_p.K628Q|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Missense_Mutation_p.K699Q			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	699					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAAAGGCCTTGAGCAGCGGG	0.642000													12	53					0	0	0.016723	0	0
PCDH1	5097	broad.mit.edu	37	5	141233828	141233828	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233828C>G	ENST00000287008.3	-	5	3640	c.3493G>C	c.(3493-3495)Gag>Cag	p.E1165Q	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCGCAGGCTCCTGCCCTCCT	0.677000													28	27					0	0	0.017118	0	0
LAMC1	3915	broad.mit.edu	37	1	183096378	183096378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:183096378G>A	ENST00000258341.4	+	17	3219	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	988	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCATCCTGAGGGATCTCT	0.393000													13	36					0	0	0.016723	0	0
WDHD1	11169	broad.mit.edu	37	14	55457948	55457948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:55457948G>C	ENST00000360586.3	-	12	1389	c.1324C>G	c.(1324-1326)Ctc>Gtc	p.L442V	WDHD1_ENST00000359167.4_Missense_Mutation_p.I21M|WDHD1_ENST00000420358.2_Missense_Mutation_p.L319V|WDHD1_ENST00000421192.1_Missense_Mutation_p.L319V	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	442						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGTGAGTGAGATGCAACGGT	0.388000													20	24					0	0	0.014323	0	0
PRKD2	25865	broad.mit.edu	37	19	47178369	47178369	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:47178369T>C	ENST00000433867.1	-	18	2822	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	PRKD2_ENST00000600194.1_Missense_Mutation_p.D625G|PRKD2_ENST00000291281.4_Missense_Mutation_p.D782G|PRKD2_ENST00000595515.1_Missense_Mutation_p.D792G|PRKD2_ENST00000601806.1_Missense_Mutation_p.D625G|DACT3-AS1_ENST00000525008.1_RNA	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	782	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTTGATGAGGTCAATGGCTGC	0.567000													31	20					0	0	0.010818	0	0
C9orf64	84267	broad.mit.edu	37	9	86571141	86571141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:86571141C>G	ENST00000376344.3	-	1	491	c.275G>C	c.(274-276)aGa>aCa	p.R92T	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	92										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TGTTTTCCCTCTGTACCTCAC	0.592000													84	59					0	0	0.014410	0	0
SLC9A4	389015	broad.mit.edu	37	2	103090411	103090411	+	Missense_Mutation	SNP	G	G	A	rs141209381		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:103090411G>A	ENST00000295269.4	+	1	650	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	65					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACTGGATTATGACTATGTGCA	0.423000													28	216					0	0	0.027356	0	0
SPIDR	23514	broad.mit.edu	37	8	48626144	48626144	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48626144C>A	ENST00000297423.4	+	16	2666	c.2282C>A	c.(2281-2283)cCg>cAg	p.P761Q	SPIDR_ENST00000541342.1_Missense_Mutation_p.P691Q|SPIDR_ENST00000518074.1_Missense_Mutation_p.P701Q|SPIDR_ENST00000517693.1_Missense_Mutation_p.P236Q|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		CTGCCTGGCCCGGTGATGCTC	0.527000													24	100					4.7796e-09	5.02335e-09	0.024334	1	0
TEK	7010	broad.mit.edu	37	9	27169599	27169599	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:27169599C>T	ENST00000380036.4	+	4	1042	c.600C>T	c.(598-600)acC>acT	p.T200T	TEK_ENST00000406359.4_Silent_p.T200T|TEK_ENST00000519097.1_Silent_p.T96T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	200					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACCTCTTCACCTCGGCCTTCA	0.483000													18	82					0	0	0.033300	0	0
CCDC140	151278	broad.mit.edu	37	2	223168711	223168711	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:223168711G>A	ENST00000295226.1	+	2	474	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	30										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGAGGCTGCGAATGAGTCCA	0.547000													41	66					0	0	0.033182	0	0
STK33	65975	broad.mit.edu	37	11	8457652	8457652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:8457652C>T	ENST00000447869.1	-	9	1900	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	STK33_ENST00000396672.1_Missense_Mutation_p.E328K|STK33_ENST00000534493.1_Missense_Mutation_p.E287K|STK33_ENST00000396673.1_Missense_Mutation_p.E328K|STK33_ENST00000315204.1_Missense_Mutation_p.E328K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.E141K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	328	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCTTCTCTTCTGAGCTTGCC	0.313000													19	31					0	0	0.008871	0	0
USP54	159195	broad.mit.edu	37	10	75279710	75279710	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75279710C>A	ENST00000339859.4	-	18	2623	c.2523G>T	c.(2521-2523)acG>acT	p.T841T	USP54_ENST00000394811.2_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_Intron|USP54_ENST00000422491.2_Silent_p.T23T|USP54_ENST00000428547.1_Silent_p.T691T|USP54_ENST00000408019.1_Silent_p.T841T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	841					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.T841T(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCTGCTGTGCGTGCTACAGC	0.443000													4	45					2.56e-06	2.65523e-06	0.009096	1	0
ADAM19	8728	broad.mit.edu	37	5	156946911	156946911	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:156946911G>C	ENST00000257527.4	-	6	614	c.536C>G	c.(535-537)tCc>tGc	p.S179C	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.S179C|ADAM19_ENST00000394020.1_Missense_Mutation_p.S181C	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	179					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGGGCTTGGAGTGCTCGAA	0.552000													41	150					0	0	0.036044	0	0
BMP1	649	broad.mit.edu	37	8	22035399	22035399	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:22035399G>A	ENST00000306385.5	+	6	1435	c.765G>A	c.(763-765)caG>caA	p.Q255Q	BMP1_ENST00000397816.3_Silent_p.Q255Q|BMP1_ENST00000306349.8_Silent_p.Q255Q|BMP1_ENST00000397814.3_Silent_p.Q255Q|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	255	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGAGCCTCAGGAGGTGGAGT	0.592000													102	369					0	0	0.014410	0	0
KCNU1	157855	broad.mit.edu	37	8	36644882	36644882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:36644882G>A	ENST00000399881.3	+	2	291	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	85						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CACTTCCAGGGACAATTTCGT	0.423000													13	11					0	0	0.013537	0	0
RPS6	6194	broad.mit.edu	37	9	19376356	19376356	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:19376356C>A	ENST00000380394.4	-	6	743	c.685G>T	c.(685-687)Gcg>Tcg	p.A229S	RPS6_ENST00000380384.1_Missense_Mutation_p.A198S|RPS6_ENST00000315377.4_Missense_Mutation_p.A198S|RPS6_ENST00000498815.1_5'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	229					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CGTCTCTTCGCAATTTGTTCC	0.413000													32	119					1.62565e-12	1.72384e-12	0.012213	1	0
PLCG1	5335	broad.mit.edu	37	20	39797452	39797452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:39797452G>A	ENST00000373272.2	+	21	2830	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E809K|PLCG1_ENST00000373271.1_Missense_Mutation_p.E809K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	809	SH3.				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)				GAGGGAGGACGAGCTGACCTT	0.577000													37	29					0	0	0.025465	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894544	47894544	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:47894544G>C	ENST00000289672.2	-	30	4845	c.4795C>G	c.(4795-4797)Cta>Gta	p.L1599V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1599					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTATCTGTAGAGATTCCTGG	0.398000													50	43					0	0	0.014410	0	0
ANO2	57101	broad.mit.edu	37	12	5848494	5848494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:5848494C>T	ENST00000327087.8	-	13	1482	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Missense_Mutation_p.E472K|ANO2_ENST00000546188.1_Missense_Mutation_p.E472K	NM_001278597.1	NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	476						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTTCCTCTTCTATGCCAGTC	0.433000													3	13					0	0	0.004672	0	0
ZNF624	57547	broad.mit.edu	37	17	16526600	16526600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526600C>T	ENST00000311331.7	-	6	1691	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATGCTTTCCCACATTCATTA	0.383000													92	87					0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16526391	16526391	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526391C>G	ENST00000311331.7	-	6	1900	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGAATTCTCTGATGTACAG	0.378000													149	164					0	0	0.014410	0	0
HAUS8	93323	broad.mit.edu	37	19	17166705	17166705	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17166705G>A	ENST00000593360.1	-	8	2588	c.570C>T	c.(568-570)tcC>tcT	p.S190S	HAUS8_ENST00000253669.5_Silent_p.S251S|HAUS8_ENST00000448593.2_Silent_p.S250S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	251					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCAGGTGGATGGACCTCACGG	0.642000													28	88					0	0	0.037714	0	0
ZNF500	26048	broad.mit.edu	37	16	4802759	4802759	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:4802759T>C	ENST00000219478.6	-	6	1360	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	ZNF500_ENST00000545009.1_Missense_Mutation_p.K354R|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	354					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GACTAGGCACTTGTAAGGCCG	0.622000													111	117					0	0	0.014410	0	0
ROCK1	6093	broad.mit.edu	37	18	18622100	18622100	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:18622100G>C	ENST00000399799.2	-	8	1857	c.917C>G	c.(916-918)tCa>tGa	p.S306*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCTTCTTTTGATATGTCATT	0.333000													22	59					0	0	0.016522	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532689	16532689	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:16532689C>G	ENST00000270747.3	-	7	1420	c.1284G>C	c.(1282-1284)aaG>aaC	p.K428N	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	428	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGTGCTCTTGACCTCGG	0.637000													17	9					0	0	0.006122	0	0
ZNF721	170960	broad.mit.edu	37	4	437033	437033	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:437033T>G	ENST00000338977.5	-	2	1235	c.1187A>C	c.(1186-1188)aAg>aCg	p.K396T	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.K408T|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GTGAATTCTCTTATGTGCAGT	0.393000													34	46					0	0	0.013726	0	0
OR4N4	283694	broad.mit.edu	37	15	22383192	22383192	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:22383192C>T	ENST00000328795.4	+	1	811	c.720C>T	c.(718-720)tgC>tgT	p.C240C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTCCACGTGCACCACTCGTG	0.493000													26	189					0	0	0.030593	0	0
LTBP2	4053	broad.mit.edu	37	14	75017934	75017934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:75017934C>T	ENST00000261978.4	-	7	1905	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	LTBP2_ENST00000556690.1_Missense_Mutation_p.V507M|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	507					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)		CTGGTCTCCACGCTGTTCTCC	0.682000													13	16					0	0	0.013537	0	0
CNTN2	6900	broad.mit.edu	37	1	205042279	205042279	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:205042279C>T	ENST00000331830.4	+	22	3212	c.2928C>T	c.(2926-2928)gaC>gaT	p.D976D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	976	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCTGAAGACATTGGCCATG	0.567000													30	40					0	0	0.037714	0	0
OR52N4	390072	broad.mit.edu	37	11	5776753	5776753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:5776753C>G	ENST00000317254.3	+	1	831	c.783C>G	c.(781-783)ttC>ttG	p.F261L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTTCTCCTTCTTTTCCCACC	0.478000													29	72					0	0	0.034045	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088106	43088106	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:43088106G>A	ENST00000359467.3	-	5	2406	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	764						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTACAATGAGATTTGACT	0.393000													30	229					0	0	0.009535	0	0
CASZ1	54897	broad.mit.edu	37	1	10720282	10720282	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:10720282G>A	ENST00000377022.3	-	6	1134	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	CASZ1_ENST00000344008.5_Silent_p.L273L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	273				L -> P (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGCCGGGCAGGGTGCCCACC	0.687000													110	106					0	0	0.014410	0	0
CLASP1	23332	broad.mit.edu	37	2	122098465	122098465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:122098465G>A	ENST00000263710.4	-	40	4978	c.4589C>T	c.(4588-4590)tCc>tTc	p.S1530F	CLASP1_ENST00000455322.2_Missense_Mutation_p.S1486F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S1463F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S1469F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S1247F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S1237F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S1470F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1530	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.|Poly-Ser.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ATCGGAGGAGGAGCTGCTGTT	0.488000													13	25					0	0	0.016723	0	0
BAAT	570	broad.mit.edu	37	9	104130470	104130470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:104130470G>A	ENST00000259407.2	-	3	709	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	BAAT_ENST00000395051.3_Missense_Mutation_p.R201C	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	201					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTGGTTTGCGGGGCAGGTCT	0.493000													17	56					0	0	0.008871	0	0
ZNF624	57547	broad.mit.edu	37	17	16527670	16527670	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527670C>G	ENST00000311331.7	-	6	621	c.530G>C	c.(529-531)aGa>aCa	p.R177T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATTTTGTAATCTCAATATCCT	0.358000													86	72					0	0	0.014410	0	0
COL6A2	1292	broad.mit.edu	37	21	47531978	47531978	+	Silent	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:47531978C>G	ENST00000300527.4	+	3	305	c.201C>G	c.(199-201)ctC>ctG	p.L67L	COL6A2_ENST00000310645.5_Silent_p.L67L|COL6A2_ENST00000397763.1_Silent_p.L67L|COL6A2_ENST00000409416.1_Silent_p.L67L|COL6A2_ENST00000357838.4_Silent_p.L67L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	67	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATCCTGCTCTTCCACATGA	0.617000													53	179					0	0	0.014410	0	0
TSR1	55720	broad.mit.edu	37	17	2237950	2237950	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:2237950T>C	ENST00000301364.5	-	5	1876	c.797A>G	c.(796-798)aAt>aGt	p.N266S	TSR1_ENST00000576112.2_Missense_Mutation_p.N250S	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)						ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CACCAAGTTATTCTCTTCACT	0.458000													104	311					0	0	0.014410	0	0
LAMB2	3913	broad.mit.edu	37	3	49169709	49169709	+	Missense_Mutation	SNP	C	C	G	rs1131783		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49169709C>G	ENST00000418109.1	-	4	543	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E127Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	127	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACCATTCTCTGACTGCCAC	0.602000													61	35					0	0	0.014410	0	0
FLT1	2321	broad.mit.edu	37	13	29008208	29008208	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:29008208G>C	ENST00000282397.4	-	5	914	c.663C>G	c.(661-663)ctC>ctG	p.L221L	FLT1_ENST00000541932.1_Silent_p.L221L|FLT1_ENST00000539099.1_Silent_p.L221L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	221					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCGATGTGTGAGATAGTTTG	0.353000													18	66					0	0	0.006122	0	0
TCL6	27004	broad.mit.edu	37	14	96135813	96135813	+	RNA	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:96135813A>G	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tgatccgcctacctcggcctc	0.507000			T	TRA@	T-ALL								5	36					0	0	0.014758	0	0
AUTS2	26053	broad.mit.edu	37	7	70255708	70255708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:70255708C>G	ENST00000342771.4	+	19	3827	c.3506C>G	c.(3505-3507)tCc>tGc	p.S1169C	AUTS2_ENST00000406775.2_Missense_Mutation_p.S1145C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1169	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGGCTCCACTCCGTGCACCCC	0.701000													32	110					0	0	0.017118	0	0
SLC33A1	9197	broad.mit.edu	37	3	155546144	155546144	+	Missense_Mutation	SNP	G	G	A	rs149578822		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:155546144G>A	ENST00000392845.3	-	6	1885	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S502L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTAACACATGAGCCACCCAG	0.313000													51	55					0	0	0.014410	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168912	142168912	+	RNA	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:142168912A>G	ENST00000454561.2	-	0	133																											AGCCGAGTGAATTCTGGGCCT	0.582000													3	24					0	0	0.014758	0	0
ZNF624	57547	broad.mit.edu	37	17	16526782	16526782	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526782C>G	ENST00000311331.7	-	6	1509	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCGTTACATCTAAAAGGTTT	0.373000													68	69					0	0	0.014410	0	0
IVD	3712	broad.mit.edu	37	15	40703469	40703469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:40703469G>A	ENST00000249760.2	+	5	810	c.467G>A	c.(466-468)gGt>gAt	p.G156D	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.G159D|IVD_ENST00000479013.2_Missense_Mutation_p.G129D	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	156					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTGATCAGTGGTGAGTACATC	0.517000													277	329					0	0	0.014410	0	0
CDCA7L	55536	broad.mit.edu	37	7	21951271	21951271	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:21951271C>G	ENST00000406877.3	-	3	546	c.267G>C	c.(265-267)caG>caC	p.Q89H	CDCA7L_ENST00000373934.4_Intron|CDCA7L_ENST00000465490.1_Intron|CDCA7L_ENST00000356195.5_Missense_Mutation_p.Q55H	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	89	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCAGATCACTCTGCGTAAATC	0.388000													64	66					0	0	0.014410	0	0
LRRC6	23639	broad.mit.edu	37	8	133623595	133623595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:133623595G>C	ENST00000519595.1	-	9	1087	c.989C>G	c.(988-990)tCt>tGt	p.S330C	LRRC6_ENST00000250173.1_Missense_Mutation_p.S330C|LRRC6_ENST00000518642.1_Missense_Mutation_p.S330C			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	330	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)			ATCGATTAAAGAGGTATCCAT	0.313000													24	26					0	0	0.021523	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													5	67					0	0	0.014758	0	0
CCDC40	55036	broad.mit.edu	37	17	78058702	78058702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78058702C>G	ENST00000397545.4	+	13	2177	c.2150C>G	c.(2149-2151)tCc>tGc	p.S717C	CCDC40_ENST00000374877.3_Missense_Mutation_p.S717C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	717					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)			AGCGAGATCTCCCGGCGCACG	0.602000													63	106					0	0	0.014410	0	0
POGLUT1	56983	broad.mit.edu	37	3	119209463	119209463	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:119209463C>A	ENST00000295588.4	+	9	947	c.863C>A	c.(862-864)tCa>tAa	p.S288*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	288						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTGTGTGGCTCACTTGTTTTC	0.413000													37	215					3.76114e-14	4.02433e-14	0.019004	1	0
MRE11A	4361	broad.mit.edu	37	11	94194101	94194101	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:94194101C>G	ENST00000323929.3	-	12	1549		c.e12+1		MRE11A_ENST00000407439.3_Splice_Site|MRE11A_ENST00000393241.4_Splice_Site|MRE11A_ENST00000323977.3_Splice_Site	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)						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)				TAAGAAATTACCTTCTCTGCG	0.318000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				7	15					0	0	0.029380	0	0
TRIM27	5987	broad.mit.edu	37	6	28891284	28891284	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:28891284G>A	ENST00000377199.3	-	1	482	c.126C>T	c.(124-126)cgC>cgT	p.R42R	TRIM27_ENST00000377194.3_Silent_p.R42R	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	42					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGCCCCAGCAGCGGGCGAGGC	0.672000			T	RET	papillary thyroid								10	42					0	0	0.006214	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508173	65508173	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:65508173C>T	ENST00000355045.2	-	2	238	c.210G>A	c.(208-210)cgG>cgA	p.R70R		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		CTCTGGGCCTCCGCCTCCGCC	0.527000													85	108					0	0	0.014410	0	0
TYW3	127253	broad.mit.edu	37	1	75229767	75229767	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:75229767C>G	ENST00000370867.3	+	6	839	c.750C>G	c.(748-750)atC>atG	p.I250M	TYW3_ENST00000421739.2_Missense_Mutation_p.I166M|TYW3_ENST00000479111.1_Missense_Mutation_p.I130M|TYW3_ENST00000457880.2_Missense_Mutation_p.I217M|TYW3_ENST00000467646.1_3'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	250					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATCTAGGAATCAATGTTACCA	0.348000													16	178					0	0	0.007413	0	0
SETD4	54093	broad.mit.edu	37	21	37429482	37429482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:37429482C>G	ENST00000399215.1	-	2	1466	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	SETD4_ENST00000332131.4_Missense_Mutation_p.E32Q|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Missense_Mutation_p.E8Q|SETD4_ENST00000399201.1_Missense_Mutation_p.E8Q|SETD4_ENST00000399208.2_Missense_Mutation_p.E32Q|SETD4_ENST00000399207.1_Missense_Mutation_p.E32Q|SETD4_ENST00000399205.1_Missense_Mutation_p.E8Q			Q9NVD3	SETD4_HUMAN	SET domain containing 4	32										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCTATAAATTCAGACTTGTGG	0.398000													25	106					0	0	0.018920	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													4	26					0	0	0.021553	0	0
MON2	23041	broad.mit.edu	37	12	62929388	62929388	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:62929388C>T	ENST00000393630.3	+	14	2190	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	MON2_ENST00000280379.6_Missense_Mutation_p.S600L|MON2_ENST00000552115.1_Missense_Mutation_p.S600L|MON2_ENST00000393629.2_Missense_Mutation_p.S600L|MON2_ENST00000546600.1_Missense_Mutation_p.S600L|MON2_ENST00000552738.1_Missense_Mutation_p.S600L|MON2_ENST00000393632.2_Missense_Mutation_p.S600L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	600					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTGTAACTTCAAGAGATGCC	0.413000													55	62					0	0	0.014410	0	0
SCO2	9997	broad.mit.edu	37	22	50962178	50962178	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:50962178G>T	ENST00000543927.1	-	2	869	c.663C>A	c.(661-663)atC>atA	p.I221I	SCO2_ENST00000395693.3_Silent_p.I221I|SCO2_ENST00000252785.3_Silent_p.I221I|SCO2_ENST00000535425.1_Silent_p.I221I	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	221	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGTCCACGATGTAGTCCT	0.572000													76	431					4.83248e-46	5.32697e-46	0.014410	1	0
HUWE1	10075	broad.mit.edu	37	X	53578136	53578136	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578136C>G	ENST00000342160.3	-	64	9568	c.9111G>C	c.(9109-9111)caG>caC	p.Q3037H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3037H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3037					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCAGCTCTCTGCTGTGCCA	0.577000													39	15					0	0	0.023175	0	0
TTN	7273	broad.mit.edu	37	2	179445285	179445285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179445285C>T	ENST00000589042.1	-	317	67045	c.66821G>A	c.(66820-66822)cGt>cAt	p.R22274H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19706H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13334H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13401H|TTN_ENST00000591111.1_Missense_Mutation_p.R20633H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13209H|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20633	Fibronectin type-III 61.						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)			AACTCCAGCACGTAATATGAG	0.378000													6	25					0	0	0.029380	0	0
MBD6	114785	broad.mit.edu	37	12	57921371	57921371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:57921371C>G	ENST00000355673.3	+	8	2520	c.2164C>G	c.(2164-2166)Ctg>Gtg	p.L722V	MBD6_ENST00000431731.2_Missense_Mutation_p.L722V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	722	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						GGCCTCCTCTCTGGGCAAGGC	0.602000													218	346					0	0	0.014410	0	0
PRKDC	5591	broad.mit.edu	37	8	48719847	48719847	+	Missense_Mutation	SNP	G	G	C	rs150449253	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:48719847G>C	ENST00000314191.2	-	70	9651	c.9595C>G	c.(9595-9597)Ctt>Gtt	p.L3199V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L3199V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3200	FAT.|KIP-binding.				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)				TCTTCTGGAAGAGGGGTAAGC	0.438000								Non-homologous end-joining					27	130					0	0	0.024334	0	0
CCDC181	57821	broad.mit.edu	37	1	169394120	169394120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169394120C>T	ENST00000545005.1	-	3	553	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E16K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E16K					coiled-coil domain containing 181																		AAGTCATCTTCGTATTCTTCA	0.289000													17	43					0	0	0.008871	0	0
KAT2A	2648	broad.mit.edu	37	17	40265828	40265828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:40265828G>A	ENST00000225916.5	-	18	2406	c.2353C>T	c.(2353-2355)Cgc>Tgc	p.R785C		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	785	Bromo.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACGTAGTAGCGGCTTCGCAGC	0.632000													20	56					0	0	0.008871	0	0
ZNF624	57547	broad.mit.edu	37	17	16526963	16526963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526963C>T	ENST00000311331.7	-	6	1328	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGGTTTCTCACCATTGTGA	0.388000													58	71					0	0	0.014410	0	0
FANCE	2178	broad.mit.edu	37	6	35423591	35423591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:35423591C>T	ENST00000229769.2	+	2	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	106					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GATGGCCGTTCGGCCATCGCT	0.607000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				43	121					0	0	0.013114	0	0
HUWE1	10075	broad.mit.edu	37	X	53578103	53578103	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:53578103C>T	ENST00000342160.3	-	64	9601	c.9144G>A	c.(9142-9144)caG>caA	p.Q3048Q	HUWE1_ENST00000262854.6_Silent_p.Q3048Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3048					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTGGCATTCTGTGCTAGTT	0.562000													45	15					0	0	0.010771	0	0
DNAH5	1767	broad.mit.edu	37	5	13913870	13913870	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:13913870G>A	ENST00000265104.4	-	11	1622	c.1518C>T	c.(1516-1518)gaC>gaT	p.D506D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	506	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGTGGCCATGTCTTCCAGCC	0.358000									Kartagener syndrome				45	35					0	0	0.014410	0	0
USP53	54532	broad.mit.edu	37	4	120181753	120181753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:120181753C>G	ENST00000450251.1	+	7	1311	c.767C>G	c.(766-768)tCt>tGt	p.S256C	USP53_ENST00000274030.6_Missense_Mutation_p.S256C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	256					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TCCGAGCATTCTGACTTGACC	0.378000													42	44					0	0	0.014410	0	0
PTPRD	5789	broad.mit.edu	37	9	8521491	8521491	+	Silent	SNP	T	T	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:8521491T>A	ENST00000381196.4	-	17	1290	c.747A>T	c.(745-747)ccA>ccT	p.P249P	PTPRD_ENST00000360074.4_Silent_p.P236P|PTPRD_ENST00000397606.3_Silent_p.P239P|PTPRD_ENST00000537002.1_Silent_p.P246P|PTPRD_ENST00000397611.3_Silent_p.P246P|PTPRD_ENST00000356435.5_Silent_p.P249P|PTPRD_ENST00000355233.5_Silent_p.P249P|PTPRD_ENST00000486161.1_Silent_p.P249P|PTPRD_ENST00000358503.5_Silent_p.P236P|PTPRD_ENST00000397617.3_Silent_p.P239P|PTPRD_ENST00000540109.1_Silent_p.P249P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	249	Ig-like C2-type 3.				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)		CGCTTCCGCCTGGCATGATTT	0.468000										TSP Lung(15;0.13)			22	61					0	0	0.012319	0	0
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:29408455C>A	ENST00000444197.2	+	1	1373	c.663C>A	c.(661-663)ctC>ctA	p.L221L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGTATCCTCGTTACCATCT	0.592000													70	265					1.43987e-31	1.56896e-31	0.014410	1	0
HIRIP3	8479	broad.mit.edu	37	16	30004529	30004529	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:30004529C>T	ENST00000279392.3	-	7	2500	c.1670G>A	c.(1669-1671)tGa>tAa	p.*557*	HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	0					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGGCAGAGCTCAGTTACTCTC	0.567000													70	58					0	0	0.014410	0	0
OR52E2	119678	broad.mit.edu	37	11	5079881	5079881	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:5079881C>T	ENST00000321522.2	-	1	976	c.977G>A	c.(976-978)tGa>tAa	p.*326*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAATTGCATTCAGAACCTCGT	0.313000													10	25					0	0	0.010729	0	0
ZNF624	57547	broad.mit.edu	37	17	16527693	16527693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527693C>T	ENST00000311331.7	-	6	598	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTCCATTTCCATAACCCTT	0.383000													93	85					0	0	0.014410	0	0
TPCN1	53373	broad.mit.edu	37	12	113705698	113705698	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:113705698C>T	ENST00000550785.1	+	6	850	c.681C>T	c.(679-681)ctC>ctT	p.L227L	TPCN1_ENST00000335509.6_Silent_p.L155L|TPCN1_ENST00000541517.1_Silent_p.L227L|TPCN1_ENST00000392569.4_Silent_p.L87L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	155						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGTTTGAACTCTGCATGAAGT	0.607000													23	37					0	0	0.016522	0	0
MTO1	25821	broad.mit.edu	37	6	74171644	74171644	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:74171644G>T	ENST00000498286.1	+	1	344	c.67G>T	c.(67-69)Gca>Tca	p.A23S	MTO1_ENST00000415954.2_Missense_Mutation_p.A23S|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000370300.4_Missense_Mutation_p.A23S			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	23					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						ATTTCCGTTGGCACGGTTGAG	0.592000													42	115					1.7489e-18	1.88405e-18	0.011902	1	0
RYR2	6262	broad.mit.edu	37	1	237813229	237813229	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:237813229C>T	ENST00000366574.2	+	50	7882	c.7565C>T	c.(7564-7566)aCa>aTa	p.T2522I	RYR2_ENST00000360064.6_Missense_Mutation_p.T2520I|RYR2_ENST00000542537.1_Missense_Mutation_p.T2506I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2522	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCTTTGCACAGCCGTCTTG	0.463000													42	133					0	0	0.036044	0	0
RBM4	5936	broad.mit.edu	37	11	66407491	66407491	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66407491G>A	ENST00000409406.1	+	1	1086	c.309G>A	c.(307-309)ccG>ccA	p.P103P	RBM4_ENST00000483858.1_Silent_p.P103P|RBM4_ENST00000396053.4_Silent_p.P103P|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000408993.2_Silent_p.P103P|RBM4_ENST00000398692.4_Silent_p.P103P|RBM4_ENST00000532968.1_Silent_p.P103P|RBM4_ENST00000506523.2_Silent_p.P103P|RBM4_ENST00000310092.7_Silent_p.P103P|RBM4_ENST00000503028.2_Silent_p.P103P|RBM4_ENST00000578778.1_Silent_p.P103P|RBM4_ENST00000530235.1_Silent_p.P103P					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGTATGGTCCGGTCATCGAAT	0.498000													187	118					0	0	0.014410	0	0
LTBP1	4052	broad.mit.edu	37	2	33568000	33568000	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:33568000C>G	ENST00000404816.2	+	25	4179	c.3826C>G	c.(3826-3828)Caa>Gaa	p.Q1276E	LTBP1_ENST00000390003.4_Missense_Mutation_p.Q951E|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q897E|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q897E|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q950E|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1277E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1276	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGGGCTTTCAAGCCCCACA	0.458000													18	59					0	0	0.033300	0	0
BRD8	10902	broad.mit.edu	37	5	137488324	137488324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:137488324C>G	ENST00000254900.5	-	21	3074	c.2703G>C	c.(2701-2703)tgG>tgC	p.W901C		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	901					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGTTTCCCTCCAGTTGCCCA	0.517000													111	148					0	0	0.014410	0	0
ETV6	2120	broad.mit.edu	37	12	12022825	12022825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022825G>A	ENST00000396373.4	+	5	1205	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	311						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCATCGGGAAGACCTGGCTTA	0.582000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								81	116					0	0	0.014410	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492772	77492772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:77492772G>A	ENST00000238647.3	-	1	2262	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	455						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTTGAAACCCGAGGATAGGCC	0.612000													57	61					0	0	0.014410	0	0
HARBI1	283254	broad.mit.edu	37	11	46637415	46637415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:46637415C>T	ENST00000326737.3	-	2	620	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	125						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATGGAGGCTTCATCAGCTGGA	0.522000													134	229					0	0	0.014410	0	0
TENM1	10178	broad.mit.edu	37	X	123516590	123516590	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:123516590A>G	ENST00000422452.2	-	31	7433	c.7370T>C	c.(7369-7371)tTa>tCa	p.L2457S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L2450S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAAATTTTCTAATTCAGGTTT	0.353000													100	24					0	0	0.014410	0	0
DDC	1644	broad.mit.edu	37	7	50595941	50595941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:50595941C>G	ENST00000444124.2	-	6	808	c.608G>C	c.(607-609)gGa>gCa	p.G203A	DDC_ENST00000357936.5_Missense_Mutation_p.G203A|DDC_ENST00000426377.1_Missense_Mutation_p.G125A|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.G203A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	203					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)	TAATTTCACTCCACCAATTAA	0.527000													29	102					0	0	0.034045	0	0
XIRP2	129446	broad.mit.edu	37	2	168103464	168103464	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:168103464G>A	ENST00000409195.1	+	9	5651	c.5562G>A	c.(5560-5562)caG>caA	p.Q1854Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1679					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						CTGTAAATCAGAAAACAGTGA	0.388000													28	40					0	0	0.034045	0	0
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418000													17	44					0	0	0.028581	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394663	43394663	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:43394663G>A	ENST00000426263.3	-	8	1192	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	338					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGAGGCCTATGAGGTGCAGGG	0.622000													50	119					0	0	0.014410	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68335260	68335260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68335260C>G	ENST00000263997.6	-	5	866	c.848G>C	c.(847-849)aGa>aCa	p.R283T	SLC7A6_ENST00000566454.1_3'UTR|SLC7A6_ENST00000219343.6_3'UTR	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	283					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CATCCGCTGTCTGCTGCTGCC	0.522000													73	79					0	0	0.014410	0	0
ADAM22	53616	broad.mit.edu	37	7	87778343	87778343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87778343C>T	ENST00000398204.4	+	18	1860	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	ADAM22_ENST00000315984.7_Missense_Mutation_p.R513C|ADAM22_ENST00000398209.3_Missense_Mutation_p.R513C|ADAM22_ENST00000398201.4_Missense_Mutation_p.R513C|ADAM22_ENST00000265727.7_Missense_Mutation_p.R513C	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	513	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGATATTCGTGAAACGTG	0.383000													6	29					0	0	0.029380	0	0
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:1638344G>A	ENST00000303415.3	-	1	81	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPG_ENST00000344103.4_Missense_Mutation_p.S6F|SIRPG_ENST00000381583.2_Missense_Mutation_p.S6F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S6F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	6					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ATGGGGCCAGGAGGCTGGGAC	0.557000													72	49					0	0	0.014410	0	0
TRPA1	8989	broad.mit.edu	37	8	72973899	72973899	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:72973899A>G	ENST00000262209.4	-	7	1112	c.905T>C	c.(904-906)gTt>gCt	p.V302A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	302						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGTTGTGTTAACAATATCCAC	0.428000													31	107					0	0	0.015359	0	0
ZNF624	57547	broad.mit.edu	37	17	16526922	16526922	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526922C>T	ENST00000311331.7	-	6	1369	c.1278G>A	c.(1276-1278)agG>agA	p.R426R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGACTTGTTCCTAAAGGCTT	0.388000													61	66					0	0	0.014410	0	0
SMEK2	57223	broad.mit.edu	37	2	55825620	55825620	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55825620C>G	ENST00000272313.5	-	4	1180	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	SMEK2_ENST00000345102.5_Missense_Mutation_p.E285Q|SMEK2_ENST00000407823.3_Missense_Mutation_p.E285Q	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	285						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAAAATTCTCTTCAAAAACA	0.348000													61	37					0	0	0.014410	0	0
TRO	7216	broad.mit.edu	37	X	54957054	54957054	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:54957054C>T	ENST00000173898.7	+	12	4009	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F	TRO_ENST00000375041.2_Silent_p.F902F|TRO_ENST00000420798.2_Silent_p.F830F|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1299	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCTAGTTTCGGCAGCACAC	0.582000													68	18					0	0	0.014410	0	0
PLIN3	10226	broad.mit.edu	37	19	4859618	4859618	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:4859618T>C	ENST00000221957.4	-	4	508	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	PLIN3_ENST00000592528.1_Missense_Mutation_p.Q111R|PLIN3_ENST00000585479.1_Missense_Mutation_p.Q111R	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	111				ILQ -> MLR (in Ref. 2; AAD11622).	vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CGTGGGCTGCTGCAGGATGGG	0.572000													76	74					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39425843	39425843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425843G>A	ENST00000280481.7	+	11	6979	c.6763G>A	c.(6763-6765)Gaa>Aaa	p.E2255K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2255	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E2255*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAAATTTGGAGAAACCAAATT	0.368000													30	31					0	0	0.034045	0	0
DIDO1	11083	broad.mit.edu	37	20	61511837	61511837	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61511837C>G	ENST00000266070.4	-	16	5796	c.5471G>C	c.(5470-5472)aGa>aCa	p.R1824T	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1824T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1824	Pro-rich.				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)					TGAGGGGCCTCTGCTGTCCCC	0.617000													482	358					0	0	0.014410	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892205	2892205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:2892205G>A	ENST00000254528.3	+	4	2239	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	694					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGCACGCAGGGGGTCCAGAG	0.562000													112	141					0	0	0.014410	0	0
ACAP3	116983	broad.mit.edu	37	1	1235416	1235416	+	Missense_Mutation	SNP	G	G	T	rs147197474	byFrequency	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:1235416G>T	ENST00000354700.5	-	8	802	c.600C>A	c.(598-600)ttC>ttA	p.F200L	ACAP3_ENST00000353662.3_Missense_Mutation_p.F158L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	200					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGCTGGAAGAAGCTGGACT	0.657000													49	64					6.17242e-35	6.75687e-35	0.014410	1	0
PSG1	5669	broad.mit.edu	37	19	43376148	43376148	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:43376148C>T	ENST00000244296.2	-	3	617	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG1_ENST00000436291.2_Silent_p.E160E|PSG1_ENST00000595356.1_Silent_p.E160E|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000312439.6_Silent_p.E160E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CCTCCATGGTCTCCCTGGGAT	0.537000													62	270					0	0	0.014410	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													8	121					0	0	0.004482	0	0
SASH1	23328	broad.mit.edu	37	6	148865205	148865205	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:148865205G>C	ENST00000367467.3	+	18	3074	c.2599G>C	c.(2599-2601)Gaa>Caa	p.E867Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	867							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATTGTACCTGAAGTGCCACA	0.572000													196	111					0	0	0.014410	0	0
TBC1D16	125058	broad.mit.edu	37	17	77922741	77922741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:77922741C>T	ENST00000310924.2	-	8	1586	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	TBC1D16_ENST00000340848.7_Missense_Mutation_p.D129N|TBC1D16_ENST00000572862.1_Missense_Mutation_p.D129N|TBC1D16_ENST00000576768.1_Missense_Mutation_p.D116N|TBC1D16_ENST00000570373.1_Missense_Mutation_p.D130N	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	491	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)			CGGACCACGTCTTTGTCCACA	0.602000													208	330					0	0	0.014410	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:39261731G>A	ENST00000391415.1	+	1	148	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637000													52	19					0	0	0.014410	0	0
FERMT2	10979	broad.mit.edu	37	14	53342072	53342072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342072G>C	ENST00000395631.2	-	8	1183	c.967C>G	c.(967-969)Cat>Gat	p.H323D	FERMT2_ENST00000553373.1_Missense_Mutation_p.H323D|FERMT2_ENST00000343279.4_Missense_Mutation_p.H323D|FERMT2_ENST00000341590.3_Missense_Mutation_p.H323D|FERMT2_ENST00000399304.3_Missense_Mutation_p.H323D			Q96AC1	FERM2_HUMAN	fermitin family member 2	323	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTATTGATATGATACTGAAAC	0.308000													32	52					0	0	0.009535	0	0
NCAM1	4684	broad.mit.edu	37	11	113126601	113126601	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:113126601G>A	ENST00000316851.7	+	14	1801	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	NCAM1_ENST00000533760.1_Missense_Mutation_p.E483K|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	611	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGTTTCAGGGGAACCCAGTGC	0.498000													4	4					0	0	0.009096	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657661	72657661	+	RNA	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:72657661C>T	ENST00000425256.1	-	0	2250																											ggaattcggtcttgagttccg	0.483000													57	201					0	0	0.014410	0	0
CSTF2	1478	broad.mit.edu	37	X	100086569	100086569	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:100086569C>A	ENST00000415585.2	+	10	1037	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R	CSTF2_ENST00000372972.2_Silent_p.R319R			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	319	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCCAACCCCTCGAGGCTTGTT	0.532000													95	14					9.82936e-54	1.08604e-53	0.014410	1	0
CEP112	201134	broad.mit.edu	37	17	64049896	64049896	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:64049896C>T	ENST00000392769.2	-	12	1394	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	CEP112_ENST00000537949.1_Silent_p.L350L|CEP112_ENST00000541355.1_Silent_p.L27L|CEP112_ENST00000535342.2_Silent_p.L392L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	392						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CCATTTTATTCAGACGCACAT	0.388000													41	206					0	0	0.036044	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146688	185146688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:185146688G>A	ENST00000265026.3	+	2	653	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G107R	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	107					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACGGTGGACGGAGAGAGCAC	0.517000													22	60					0	0	0.014323	0	0
SDK1	221935	broad.mit.edu	37	7	4051844	4051844	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:4051844G>T	ENST00000404826.2	+	16	2536	c.2397G>T	c.(2395-2397)ggG>ggT	p.G799G	SDK1_ENST00000389531.3_Silent_p.G799G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	799	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCACAACGGGGTGTTGCGTG	0.537000													88	91					5.50736e-56	6.11356e-56	0.014410	1	0
EEF1D	1936	broad.mit.edu	37	8	144671800	144671800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:144671800C>T	ENST00000532741.1	-	1	830	c.602G>A	c.(601-603)gGa>gAa	p.G201E	EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G151E|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G151E|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CACCTGGTTTCCATGGGTGCA	0.652000													82	41					0	0	0.014410	0	0
EPB41	2035	broad.mit.edu	37	1	29438879	29438879	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:29438879G>C	ENST00000343067.4	+	19	2542		c.e19-1		EPB41_ENST00000349460.4_Splice_Site|EPB41_ENST00000460378.1_Splice_Site|EPB41_ENST00000373798.1_Splice_Site|EPB41_ENST00000373800.3_Splice_Site|EPB41_ENST00000398863.2_Splice_Site|EPB41_ENST00000356093.2_Splice_Site|EPB41_ENST00000347529.3_Splice_Site	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)						blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTGGTTCCAGACTGTAAAAG	0.373000													35	95					0	0	0.023175	0	0
SPTAN1	6709	broad.mit.edu	37	9	131347041	131347041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131347041C>T	ENST00000372739.3	+	18	2589	c.2479C>T	c.(2479-2481)Caa>Taa	p.Q827*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q827*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q827*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	827					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						AAAGAAACATCAAGCCTTACA	0.448000													59	25					0	0	0.014410	0	0
MYH7B	57644	broad.mit.edu	37	20	33575921	33575921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:33575921C>G	ENST00000262873.7	+	17	1661	c.1569C>G	c.(1567-1569)atC>atG	p.I523M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	481	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.I523M(1)|p.I523I(1)		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)			AGCTGTGCATCAACTTCACCA	0.562000													170	175					0	0	0.014410	0	0
PRDM4	11108	broad.mit.edu	37	12	108147715	108147715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:108147715C>G	ENST00000228437.5	-	4	776	c.317G>C	c.(316-318)aGa>aCa	p.R106T	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	106					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TAGAATGGTTCTGAAATAACT	0.433000													42	68					0	0	0.011902	0	0
LARGE	9215	broad.mit.edu	37	22	33777913	33777913	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33777913C>A	ENST00000354992.2	-	10	1694	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	LARGE_ENST00000337431.2_Missense_Mutation_p.D375Y|LARGE_ENST00000402320.1_Missense_Mutation_p.D375Y|LARGE_ENST00000397394.2_Missense_Mutation_p.D375Y|LARGE_ENST00000452586.2_Missense_Mutation_p.D174Y|LARGE_ENST00000437602.2_Missense_Mutation_p.D375Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	375					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACCTTTAGATCAGACACGTCT	0.562000													30	145					3.57733e-08	3.75145e-08	0.009535	1	0
ZNF624	57547	broad.mit.edu	37	17	16526858	16526858	+	Missense_Mutation	SNP	C	C	T	rs138787716		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526858C>T	ENST00000311331.7	-	6	1433	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCCCACACTCGTTGCACTGA	0.388000													56	70					0	0	0.014410	0	0
ESRP2	80004	broad.mit.edu	37	16	68266170	68266170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:68266170C>G	ENST00000473183.2	-	9	1514	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	ESRP2_ENST00000565858.1_Missense_Mutation_p.E336Q			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	336	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTTACAAACTCCTCCCCTGTC	0.582000													56	70					0	0	0.014410	0	0
TRPM6	140803	broad.mit.edu	37	9	77376977	77376977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:77376977G>A	ENST00000451710.3	-	26	4847	c.4610C>T	c.(4609-4611)gCt>gTt	p.A1537V	TRPM6_ENST00000360774.1_Missense_Mutation_p.A1537V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A1532V|TRPM6_ENST00000449912.2_Missense_Mutation_p.A1532V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A1537V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1537					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGACTCCTAGCGAAGGGCCT	0.413000													28	15					0	0	0.030593	0	0
FAM47A	158724	broad.mit.edu	37	X	34148659	34148659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:34148659G>A	ENST00000346193.3	-	1	1788	c.1737C>T	c.(1735-1737)taC>taT	p.Y579Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	579										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTTCTTTTATGTAGGATGCTC	0.483000													43	10					0	0	0.033182	0	0
BSDC1	55108	broad.mit.edu	37	1	32833942	32833942	+	Missense_Mutation	SNP	G	G	C	rs12094303		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:32833942G>C	ENST00000341071.7	-	10	1428	c.1417C>G	c.(1417-1419)Ctg>Gtg	p.L473V	BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000446293.2_Intron|BSDC1_ENST00000455895.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000463967.1_5'UTR|BSDC1_ENST00000413080.1_Intron			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	0							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTCACCTCAGACAGGAGCAG	0.607000													33	38					0	0	0.013726	0	0
ZNF624	57547	broad.mit.edu	37	17	16526838	16526838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526838C>G	ENST00000311331.7	-	6	1453	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGTGGTATTCTTAAAAGACT	0.383000													57	66					0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16526725	16526725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16526725C>T	ENST00000311331.7	-	6	1566	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTGTGAGTTCTTATATGTAC	0.383000													81	92					0	0	0.014410	0	0
P2RX3	5024	broad.mit.edu	37	11	57106039	57106039	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:57106039C>T	ENST00000263314.2	+	1	49	c.15C>T	c.(13-15)tcC>tcT	p.S5S	P2RX3_ENST00000533436.1_3'UTR	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	5					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ACTGCATATCCGACTTCTTCA	0.542000													129	273					0	0	0.014410	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092370	151092370	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:151092370C>T	ENST00000370335.1	+	3	501	c.234C>T	c.(232-234)ttC>ttT	p.F78F	MAGEA4_ENST00000370337.4_Silent_p.F78F|MAGEA4_ENST00000370340.3_Silent_p.F78F|MAGEA4_ENST00000393921.1_Silent_p.F78F|MAGEA4_ENST00000393920.1_Silent_p.F78F|MAGEA4_ENST00000360243.2_Silent_p.F78F|MAGEA4_ENST00000276344.2_Silent_p.F78F			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	78							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTTCACTTGCTGGA	0.602000													90	25					0	0	0.014410	0	0
MAPK9	5601	broad.mit.edu	37	5	179666936	179666936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:179666936C>A	ENST00000452135.2	-	10	1346	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	MAPK9_ENST00000393360.3_Nonsense_Mutation_p.E350*|MAPK9_ENST00000455781.1_Nonsense_Mutation_p.E350*|MAPK9_ENST00000343111.6_Nonsense_Mutation_p.E350*|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Nonsense_Mutation_p.E265*			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	350					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCATTCTTCAATTGCATGT	0.348000													20	58					1.2644e-06	1.31432e-06	0.010504	1	0
MTRF1	9617	broad.mit.edu	37	13	41791298	41791298	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:41791298C>G	ENST00000379480.4	-	10	1391	c.1291G>C	c.(1291-1293)Gaa>Caa	p.E431Q	MTRF1_ENST00000379477.1_Missense_Mutation_p.E431Q|MTRF1_ENST00000430347.2_3'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	431					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)		GCAATGGCTTCTTCATCTGCT	0.338000													26	71					0	0	0.015359	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784258	30784258	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30784258C>T	ENST00000246229.4	-	3	1752	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGGGGCTACTGGAATGCTT	0.577000													58	202					0	0	0.014410	0	0
EXPH5	23086	broad.mit.edu	37	11	108384189	108384189	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:108384189G>A	ENST00000265843.4	-	6	2155	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	EXPH5_ENST00000525344.1_Missense_Mutation_p.S675F|EXPH5_ENST00000443411.1_Missense_Mutation_p.S494F|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.S606F	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	682					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)		AAGAGGCAGAGAGTCAACTGA	0.413000													32	45					0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179578722	179578722	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:179578722T>C	ENST00000589042.1	-	92	26887	c.26663A>G	c.(26662-26664)aAg>aGg	p.K8888R	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K7644R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K8571R|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8571	Ig-like 72.						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)			ATTGATGATCTTAAGGCCGGA	0.443000													9	26					0	0	0.004482	0	0
OR1J1	347168	broad.mit.edu	37	9	125239256	125239256	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:125239256A>G	ENST00000259357.2	-	1	979	c.950T>C	c.(949-951)cTc>cCc	p.L317P		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						caaagtgttgagattacaggc	0.468000													6	50					0	0	0.029380	0	0
TLK2	11011	broad.mit.edu	37	17	60655841	60655841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:60655841G>A	ENST00000582809.1	+	15	1448	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	TLK2_ENST00000343388.7_Missense_Mutation_p.E366K|TLK2_ENST00000346027.5_Missense_Mutation_p.E398K|TLK2_ENST00000326270.9_Missense_Mutation_p.E420K|TLK2_ENST00000542523.1_Missense_Mutation_p.E366K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	420					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E420K(1)|p.E397K(1)|p.E398K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GCTTTAGGAGGAAGCAGAGAT	0.368000													11	78					0	0	0.008291	0	0
PTPRT	11122	broad.mit.edu	37	20	40790057	40790057	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:40790057C>A	ENST00000373198.4	-	18	2909	c.2674G>T	c.(2674-2676)Gac>Tac	p.D892Y	PTPRT_ENST00000373187.1_Missense_Mutation_p.D873Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D863Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D882Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D876Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D863Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D872Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				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)				TGCAGCAAGTCAGCCACCCGG	0.597000													96	79					5.25376e-55	5.81842e-55	0.014410	1	0
SYMPK	8189	broad.mit.edu	37	19	46338423	46338423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46338423G>C	ENST00000245934.7	-	11	1550	c.1306C>G	c.(1306-1308)Ccc>Gcc	p.P436A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	436					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GACTCCACGGGGGTGTAGATG	0.607000													99	62					0	0	0.014410	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32407746	32407746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:32407746C>T	ENST00000395388.2	+	1	128	c.19C>T	c.(19-21)Cct>Tct	p.P7S	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.P7S	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	7					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGTGGAGTCCCTGTGCTAGG	0.473000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				17	26					0	0	0.008871	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099876	64099876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:64099876C>G	ENST00000539294.1	+	4	1620	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C	YTHDF3_ENST00000542911.2_Missense_Mutation_p.S246C|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	436	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTAAATACTCTATCTGGTGT	0.398000													25	88					0	0	0.024334	0	0
PLCB1	23236	broad.mit.edu	37	20	8678319	8678319	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:8678319G>C	ENST00000378641.3	+	11	1531	c.1056G>C	c.(1054-1056)gtG>gtC	p.V352V	PLCB1_ENST00000338037.6_Silent_p.V352V|PLCB1_ENST00000378637.2_Silent_p.V352V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	352	PI-PLC X-box.			V -> A (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGCCAAGTGCTCCTGTCTG	0.512000													117	38					0	0	0.014410	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195877	102195877	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:102195877C>T	ENST00000306176.1	+	10	1212	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	ZPLD1_ENST00000466937.1_Missense_Mutation_p.S355L|ZPLD1_ENST00000491959.1_Missense_Mutation_p.S355L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	355						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCAACAATTCGCAACTTGGT	0.308000													41	93					0	0	0.013114	0	0
HMGA1	3159	broad.mit.edu	37	6	34208621	34208621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:34208621G>C	ENST00000447654.1	+	2	553	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	HMGA1_ENST00000374116.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000395004.3_Missense_Mutation_p.E22Q|HMGA1_ENST00000311487.5_Missense_Mutation_p.E22Q|HMGA1_ENST00000347617.6_Missense_Mutation_p.E22Q|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000401473.3_Missense_Mutation_p.E22Q	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	22					DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						GGACGGCACTGAGAAGCGGGG	0.622000			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""								78	100					0	0	0.014410	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379606	113379606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:113379606G>A	ENST00000316407.4	-	7	1333	c.923C>T	c.(922-924)tCa>tTa	p.S308L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S308L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	308					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCAGTTGCTGAGGAGCTGTG	0.413000													50	77					0	0	0.014410	0	0
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I236I|SLIT1_ENST00000371070.4_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647000													28	21					0	0	0.009535	0	0
MYO15A	51168	broad.mit.edu	37	17	18022918	18022918	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:18022918C>A	ENST00000205890.5	+	2	1142	c.804C>A	c.(802-804)agC>agA	p.S268R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	268	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)					GCCCCTACAGCCCGGCCTGGC	0.642000													269	41					1.97083e-141	2.19289e-141	0.014410	1	0
MYT1L	23040	broad.mit.edu	37	2	1926269	1926269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:1926269G>T	ENST00000399161.2	-	10	2019	c.1272C>A	c.(1270-1272)ttC>ttA	p.F424L	MYT1L_ENST00000428368.2_Missense_Mutation_p.F424L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	424					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)		TGGTCATGTCGAACACCTCTT	0.567000													24	121					1.85244e-09	1.95124e-09	0.018920	1	0
UBC	7316	broad.mit.edu	37	12	125396365	125396365	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125396365C>T	ENST00000536769.1	-	1	3529	c.1953G>A	c.(1951-1953)ttG>ttA	p.L651L	UBC_ENST00000546120.1_Silent_p.L575L|UBC_ENST00000538617.1_Silent_p.L271L|UBC_ENST00000339647.5_Silent_p.L651L			P0CG48	UBC_HUMAN	ubiquitin C	651	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CAGCAAAGATCAACCTCTGCT	0.537000													123	477					0	0	0.014410	0	0
NLRP9	338321	broad.mit.edu	37	19	56244156	56244156	+	Silent	SNP	C	C	T	rs146611098		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244156C>T	ENST00000332836.2	-	2	1068	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT.					cytoplasm	ATP binding	p.V347V(1)		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)		GCCTCTGTTTCACACAAGTAC	0.418000													209	35					0	0	0.014410	0	0
NDRG4	65009	broad.mit.edu	37	16	58537830	58537830	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58537830C>T	ENST00000563799.1	+	2	256	c.150C>T	c.(148-150)gtC>gtT	p.V50V	NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000563022.1_3'UTR			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	44					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CAGCCTCAGTCAGCCCTCCTC	0.652000													37	50					0	0	0.033182	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041700	184041700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184041700G>C	ENST00000342981.4	+	15	2824	c.2410G>C	c.(2410-2412)Gag>Cag	p.E804Q	EIF4G1_ENST00000319274.6_Missense_Mutation_p.E803Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E640Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E607Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E810Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E810Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E608Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E803Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E639Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E717Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E763Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E810Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E716Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E764Q	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	803	eIF3/EIF4A-binding.				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)			CCTCATTTTTGAGAAGGCCAT	0.517000													117	297					0	0	0.014410	0	0
MYPOP	339344	broad.mit.edu	37	19	46393930	46393930	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46393930C>G	ENST00000322217.5	-	3	1237	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	384						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAAACCTTTTCTCCGCTTGTG	0.642000													43	124					0	0	0.011902	0	0
ANK1	286	broad.mit.edu	37	8	41519393	41519393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:41519393C>G	ENST00000396942.1	-	41	5628	c.5545G>C	c.(5545-5547)Gtg>Ctg	p.V1849L	ANK1_ENST00000314214.8_Splice_Site|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522543.1_Missense_Mutation_p.V124L|ANK1_ENST00000522231.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000347528.4_Missense_Mutation_p.V1849L|ANK1_ENST00000265709.8_Splice_Site			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1849	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTACAGTCACCTCCTCGTGC	0.582000													46	386					0	0	0.011902	0	0
DST	667	broad.mit.edu	37	6	56473897	56473897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:56473897C>G	ENST00000370754.5	-	39	5429	c.5430G>C	c.(5428-5430)gaG>gaC	p.E1810D	DST_ENST00000312431.6_Missense_Mutation_p.E1632D|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.E1632D|DST_ENST00000446842.2_Missense_Mutation_p.E1306D|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E1632D			Q03001	DYST_HUMAN	dystonin	1632					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)			CAGAAATAATCTCCTTAGCTT	0.398000													82	84					0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16527313	16527313	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527313C>G	ENST00000311331.7	-	6	978	c.887G>C	c.(886-888)aGa>aCa	p.R296T		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGAGTTCTTTGATGTTG	0.348000													90	65					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488827	25488827	+	RNA	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:25488827G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TGCTCAATAGGATTACGCTGA	0.493000													160	316					0	0	0.014410	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421703	62421703	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:62421703G>A	ENST00000245663.4	-	2	558	c.408C>T	c.(406-408)gaC>gaT	p.D136D	ZBTB46_ENST00000302995.2_Silent_p.D136D|ZBTB46_ENST00000395104.1_Silent_p.D136D	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CATCTGAGGCGTCCGACTTGA	0.617000													22	151					0	0	0.016522	0	0
LARGE	9215	broad.mit.edu	37	22	33780253	33780253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:33780253C>A	ENST00000354992.2	-	9	1501	c.930G>T	c.(928-930)atG>atT	p.M310I	LARGE_ENST00000337431.2_Missense_Mutation_p.M310I|LARGE_ENST00000402320.1_Missense_Mutation_p.M310I|LARGE_ENST00000397394.2_Missense_Mutation_p.M310I|LARGE_ENST00000452586.2_Missense_Mutation_p.M109I|LARGE_ENST00000437602.2_Missense_Mutation_p.M310I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	310					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCTCCCATTTCATCTTCCGCA	0.493000													60	101					1.31726e-23	1.42553e-23	0.014410	1	0
ARNT	405	broad.mit.edu	37	1	150795814	150795814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:150795814T>C	ENST00000358595.5	-	14	1450	c.1250A>G	c.(1249-1251)aAa>aGa	p.K417R	ARNT_ENST00000505755.1_Missense_Mutation_p.K402R|ARNT_ENST00000515192.1_Missense_Mutation_p.K403R|ARNT_ENST00000354396.2_Missense_Mutation_p.K417R	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	417	PAS 2.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCTTTTAATTTCACTACCTG	0.368000			T	ETV6	AML								69	61					0	0	0.014410	0	0
ZP4	57829	broad.mit.edu	37	1	238053778	238053778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:238053778G>A	ENST00000366570.4	-	1	316	c.158C>T	c.(157-159)cCt>cTt	p.P53L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	53					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TATTAGTACAGGAGGAGACGT	0.488000													10	48					0	0	0.013537	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21746618	21746618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:21746618C>G	ENST00000319481.3	-	26	2790	c.2584G>C	c.(2584-2586)Gac>Cac	p.D862H	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.D480H|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.D349H	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	862					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTCTCCATGTCTTTGTCTACT	0.398000													74	62					0	0	0.014410	0	0
QSER1	79832	broad.mit.edu	37	11	32997931	32997931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:32997931C>T	ENST00000399302.2	+	13	5454	c.5119C>T	c.(5119-5121)Caa>Taa	p.Q1707*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.Q1468*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1707										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGAAATTGTTCAACTTTGTAT	0.318000													19	32					0	0	0.007413	0	0
PREX2	80243	broad.mit.edu	37	8	68931794	68931794	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:68931794C>G	ENST00000288368.4	+	3	501	c.224C>G	c.(223-225)tCa>tGa	p.S75*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	75	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTGTTCTCAAACATTGAA	0.363000													23	12					0	0	0.016522	0	0
ZNF624	57547	broad.mit.edu	37	17	16527767	16527767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527767C>T	ENST00000311331.7	-	6	524	c.433G>A	c.(433-435)Gat>Aat	p.D145N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATAAATCTTCAGAAATA	0.408000													85	88					0	0	0.014410	0	0
HECTD4	283450	broad.mit.edu	37	12	112685315	112685315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112685315C>T	ENST00000550722.1	-	28	4245	c.3850G>A	c.(3850-3852)Gaa>Aaa	p.E1284K	HECTD4_ENST00000430131.2_Missense_Mutation_p.E1008K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E1258K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AAGGAGACTTCCTTCATTGAA	0.318000													4	7					0	0	0.021553	0	0
PCDH1	5097	broad.mit.edu	37	5	141233792	141233792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:141233792C>G	ENST00000287008.3	-	5	3676	c.3529G>C	c.(3529-3531)Gac>Cac	p.D1177H	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCGGTCTTCCGGGGGG	0.667000													33	31					0	0	0.021022	0	0
NDRG4	65009	broad.mit.edu	37	16	58537846	58537846	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:58537846C>G	ENST00000563799.1	+	2	272	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A	NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000356752.4_Intron|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000563022.1_3'UTR			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	44					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCCTCTGCCTCCCATCAGCCA	0.672000													42	54					0	0	0.013114	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611709	84611709	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:84611709C>T	ENST00000286744.5	+	19	2589	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	ADAMTSL3_ENST00000567476.1_Silent_p.L789L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	789	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGTCGGCAGCTGCTAACGGA	0.547000													9	43					0	0	0.004482	0	0
AVL9	23080	broad.mit.edu	37	7	32623518	32623518	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:32623518G>C	ENST00000318709.4	+	16	2167	c.1946G>C	c.(1945-1947)tGa>tCa	p.*649S	AVL9_ENST00000409301.1_Nonstop_Mutation_p.*631S|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	0						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGAAGCCTTGAGCAAGGCGT	0.522000													8	31					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152768727	152768727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:152768727C>T	ENST00000367255.5	-	29	4136	c.3535G>A	c.(3535-3537)Gag>Aag	p.E1179K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E1169K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1179K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1245K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1179K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1179K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1186K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1186K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1179					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)		CTGAGGGTCTCACCCCTTTTG	0.423000										HNSCC(10;0.0054)			69	34					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21230048	21230048	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:21230048T>C	ENST00000233242.1	-	26	9819	c.9692A>G	c.(9691-9693)gAt>gGt	p.D3231G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3231	Heparin-binding.				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)	TTTGTACTTATCAAACTTAAT	0.368000													9	39					0	0	0.004482	0	0
DHX37	57647	broad.mit.edu	37	12	125461982	125461982	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:125461982C>T	ENST00000308736.2	-	5	891	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	DHX37_ENST00000544745.1_Missense_Mutation_p.V52M	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	265	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCTCGGCCACAGCCTCCATG	0.552000													148	144					0	0	0.014410	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922410	17922410	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17922410T>G	ENST00000318683.6	+	3	745	c.598T>G	c.(598-600)Tgc>Ggc	p.C200G	B3GNT3_ENST00000595387.1_Missense_Mutation_p.C200G	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	200					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGAGACAAGGTGCGCCAACGC	0.572000													14	122					0	0	0.030593	0	0
OR6C6	283365	broad.mit.edu	37	12	55688992	55688992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:55688992C>G	ENST00000358433.2	-	1	24	c.25G>C	c.(25-27)Gag>Cag	p.E9Q		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGAATGAACTCTATTTCCATT	0.318000													19	46					0	0	0.014323	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351673	25351673	+	RNA	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:25351673G>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1																						TGCCTGGATCGATGATGACTT	0.458000													5	41					0	0	0.014758	0	0
C1orf56	54964	broad.mit.edu	37	1	151022921	151022921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:151022921G>A	ENST00000368926.5	+	2	1121	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	338						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGATAGACAGAAACCAGAGG	0.413000													34	132					0	0	0.021022	0	0
ACCS	84680	broad.mit.edu	37	11	44089398	44089398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:44089398G>A	ENST00000263776.8	+	2	655	c.221G>A	c.(220-222)tGg>tAg	p.W74*	ACCS_ENST00000533208.1_Intron|ACCS_ENST00000432284.2_Nonsense_Mutation_p.W74*	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	74							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAATGGTTCTGGGATTCAGCT	0.537000													28	37					0	0	0.024334	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488826	25488826	+	RNA	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:25488826G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						ATGCTCAATAGGATTACGCTG	0.488000													162	321					0	0	0.014410	0	0
MYCT1	80177	broad.mit.edu	37	6	153043097	153043097	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:153043097G>C	ENST00000367245.5	+	2	425	c.417G>C	c.(415-417)ctG>ctC	p.L139L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	139						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACCTCAGCCTGGCCAGTCTCA	0.493000													60	23					0	0	0.014410	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981890	61981890	+	Silent	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:61981890G>C	ENST00000370263.4	-	5	1094	c.873C>G	c.(871-873)ctC>ctG	p.L291L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	291					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCTCGGTGATGAGCAGCAGGA	0.592000													76	453					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3141781	3141781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:3141781C>A	ENST00000520002.1	-	27	4596	c.4041G>T	c.(4039-4041)aaG>aaT	p.K1347N	CSMD1_ENST00000602723.1_Missense_Mutation_p.K1347N|CSMD1_ENST00000400186.3_Missense_Mutation_p.K1347N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.K1346N|CSMD1_ENST00000537824.1_Missense_Mutation_p.K1346N|CSMD1_ENST00000539096.1_Missense_Mutation_p.K1346N|CSMD1_ENST00000602557.1_Missense_Mutation_p.K1347N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1347	CUB 8.					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)		CACTCCACTCCTTCAGCAGGA	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	19					6.31663e-08	6.59489e-08	0.024245	1	0
OTUD4	54726	broad.mit.edu	37	4	146063358	146063358	+	Silent	SNP	A	A	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:146063358A>G	ENST00000454497.2	-	18	1754	c.1617T>C	c.(1615-1617)ttT>ttC	p.F539F	OTUD4_ENST00000447906.2_Silent_p.F604F|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	603							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGTTGGTCCAAAAGTTGTAG	0.468000													53	170					0	0	0.014410	0	0
ULBP1	80329	broad.mit.edu	37	6	150289814	150289814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:150289814C>G	ENST00000229708.3	+	2	200	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GTGTGAAGTTCAAGGCCTGGT	0.463000													145	73					0	0	0.014410	0	0
INSRR	3645	broad.mit.edu	37	1	156823546	156823546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:156823546C>G	ENST00000368195.3	-	2	1031	c.635G>C	c.(634-636)aGa>aCa	p.R212T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	212					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCCCACCTCTCTGGCAGTG	0.607000													35	132					0	0	0.033182	0	0
C3	718	broad.mit.edu	37	19	6686860	6686860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:6686860C>T	ENST00000245907.6	-	28	3635	c.3543G>A	c.(3541-3543)atG>atA	p.M1181I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1181					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)		TCTGTAGGTTCATGTAGTTGG	0.517000													114	107					0	0	0.014410	0	0
CD248	57124	broad.mit.edu	37	11	66083610	66083610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66083610G>A	ENST00000311330.3	-	1	905	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	297						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)	AAACCCAGGCGACAGTGGCAG	0.647000													61	62					0	0	0.014410	0	0
WDR41	55255	broad.mit.edu	37	5	76736658	76736658	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:76736658G>C	ENST00000296679.4	-	9	1237	c.862C>G	c.(862-864)Cat>Gat	p.H288D	WDR41_ENST00000507029.1_Missense_Mutation_p.H233D|WDR41_ENST00000414719.2_Missense_Mutation_p.H34D	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	288										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CATGTGAAATGATGAATAGAA	0.343000													20	33					0	0	0.007413	0	0
MYLK2	85366	broad.mit.edu	37	20	30408244	30408244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:30408244C>T	ENST00000375994.2	+	2	641	c.368C>T	c.(367-369)cCt>cTt	p.P123L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P123L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	123					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCAGGATCCTGGAAAGCCC	0.657000													39	112					0	0	0.027894	0	0
GCC2	9648	broad.mit.edu	37	2	109088444	109088444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:109088444C>G	ENST00000309863.6	+	6	3373	c.2659C>G	c.(2659-2661)Caa>Gaa	p.Q887E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	887					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAAGTATCTCAAACATGTAG	0.308000													52	38					0	0	0.014410	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502559	16502559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16502559G>A	ENST00000396652.1	-	5	1019	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.R79C			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	79	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGGTGGAACGCAGTTCCCGG	0.502000													40	38					0	0	0.027894	0	0
FGF3	2248	broad.mit.edu	37	11	69631101	69631101	+	Missense_Mutation	SNP	C	C	T	rs150581924	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69631101C>T	ENST00000334134.2	-	2	401	c.311G>A	c.(310-312)cGa>cAa	p.R104Q		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	104					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCATAGAGTCGTCCCCTCTT	0.597000													193	3019					0	0	0.014410	0	0
PKD1L2	114780	broad.mit.edu	37	16	81241228	81241228	+	RNA	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:81241228A>T	ENST00000337114.4	-	0	772				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTGGACACCATCAGCTGCAG	0.443000													65	85					0	0	0.014410	0	0
ITPR3	3710	broad.mit.edu	37	6	33632979	33632979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:33632979G>C	ENST00000374316.5	+	14	2458	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	ITPR3_ENST00000605930.1_Missense_Mutation_p.Q466H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	466					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCATCAGCCAGAATGACCGCA	0.567000													42	161					0	0	0.014410	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915495	35915495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35915495C>G	ENST00000325722.3	-	15	2560	c.2326G>C	c.(2326-2328)Gac>Cac	p.D776H	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D213H	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	776	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding	p.D776N(2)		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)				GTGGTCCGGTCTGTGTCACTC	0.483000													31	49					0	0	0.009535	0	0
EEA1	8411	broad.mit.edu	37	12	93258690	93258690	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:93258690T>C	ENST00000322349.8	-	3	455	c.191A>G	c.(190-192)cAt>cGt	p.H64R	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	64					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						ACCAGCATCATGAACAGCTTC	0.378000													33	61					0	0	0.010818	0	0
BZW2	28969	broad.mit.edu	37	7	16745684	16745684	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:16745684G>C	ENST00000433922.2	+	12	1409		c.e12-1		BZW2_ENST00000407633.1_Splice_Site|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Splice_Site|BZW2_ENST00000258761.3_Splice_Site	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTCTCTCCTAGAATCCGAATC	0.428000													20	59					0	0	0.010504	0	0
ZNF703	80139	broad.mit.edu	37	8	37554677	37554677	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:37554677G>A	ENST00000331569.4	+	2	487	c.258G>A	c.(256-258)aaG>aaA	p.K86K		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	86					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			ACGCCAAGAAGAGCCCCTTGG	0.716000													8	44					0	0	0.013537	0	0
ZNF99	7652	broad.mit.edu	37	19	22941120	22941120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22941120G>A	ENST00000397104.3	-	5	1317	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H531Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.343000													38	44					0	0	0.030466	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477234	110477234	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:110477234G>T	ENST00000378402.5	+	49	8277	c.8173G>T	c.(8173-8175)Gca>Tca	p.A2725S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2725					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)			ATTTTGCACAGCAAAAGGCCT	0.468000										HNSCC(38;0.096)			36	149					1.57351e-24	1.70674e-24	0.017118	1	0
MYO5A	4644	broad.mit.edu	37	15	52672022	52672022	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:52672022G>C	ENST00000399231.3	-	17	2339	c.2096C>G	c.(2095-2097)tCa>tGa	p.S699*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.S699*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.S699*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.S699*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.S699*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	699	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCTCACCGTGAGGGGAAACC	0.448000													25	122					0	0	0.027356	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367835	3367835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3367835C>T	ENST00000574298.1	+	6	1330	c.857C>T	c.(856-858)tCa>tTa	p.S286L	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AGCAGGCGGTCAAGCCTTCTT	0.453000													59	42					0	0	0.014410	0	0
SUV420H1	51111	broad.mit.edu	37	11	67934619	67934619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:67934619C>G	ENST00000304363.4	-	10	1357	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	SUV420H1_ENST00000402185.2_Missense_Mutation_p.R312T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R335T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R335T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R335T	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAGTCCCACTCTGGATTTAAA	0.408000													9	76					0	0	0.006214	0	0
CH25H	9023	broad.mit.edu	37	10	90966884	90966884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:90966884C>T	ENST00000371852.2	-	1	187	c.166G>A	c.(166-168)Gtg>Atg	p.V56M		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	56					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TCCAGGACCACGAAGGGCAGG	0.632000													15	53					0	0	0.028581	0	0
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:153920995G>A	ENST00000368633.1	-	13	1927	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	CRTC2_ENST00000368630.3_Silent_p.F280F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592000													115	108					0	0	0.014410	0	0
RBFA	79863	broad.mit.edu	37	18	77794621	77794621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr18:77794621G>C	ENST00000569722.1	+	1	276	c.126G>C	c.(124-126)aaG>aaC	p.K42N	RBFA_ENST00000262197.7_Missense_Mutation_p.K42N|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000306735.5_Missense_Mutation_p.K42N																							TCTCCTGCAAGAACTGGCTCA	0.657000													13	198					0	0	0.013537	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236306	118236306	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:118236306A>C	ENST00000369230.3	+	11	1461	c.1315A>C	c.(1315-1317)Aat>Cat	p.N439H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	439	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATGGTGATAAATACATCTGG	0.308000													41	46					0	0	0.010771	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25351119	25351119	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:25351119C>T	ENST00000302874.4	+	7	789	c.765C>T	c.(763-765)gcC>gcT	p.A255A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	255							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TCCAGACTGCCCTTGAAGTAT	0.408000													54	101					0	0	0.014410	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346653	131346653	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:131346653C>T	ENST00000372739.3	+	17	2396	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	SPTAN1_ENST00000372731.4_Silent_p.L762L|SPTAN1_ENST00000358161.5_Silent_p.L762L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	762					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						AGGAAGCCCTCGTGGCTCGCT	0.547000													25	9					0	0	0.027356	0	0
OLFM4	10562	broad.mit.edu	37	13	53624505	53624505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:53624505G>A	ENST00000219022.2	+	5	1210	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	378	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATATGCTAATGTTGCTTGGCA	0.418000													48	170					0	0	0.014410	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549612	46549612	+	Silent	SNP	C	C	T	rs142530497	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:46549612C>T	ENST00000242848.4	-	12	2622	c.2274G>A	c.(2272-2274)agG>agA	p.R758R	ZC3H13_ENST00000282007.3_Silent_p.R758R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	758	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.R758fs*104(1)		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)		gctctctctccctctctctct	0.532000													5	65					0	0	0.010729	0	0
FTX	100302692	broad.mit.edu	37	X	73507019	73507019	+	RNA	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:73507019G>A	ENST00000429124.1	-	0	174				MIR545_ENST00000385085.1_RNA																							aacatttactgaggcctacta	0.448000													28	7					0	0	0.024334	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19125972	19125972	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:19125972C>A	ENST00000564808.2	+	2	133	c.133C>A	c.(133-135)Cct>Act	p.P45T	ITPRIPL2_ENST00000381440.3_Silent_p.L63L																							GCTATGTCCTCCTGCGCTGTC	0.721000													8	55					0.00448238	0.00455933	0.004482	1	0
ZNF99	7652	broad.mit.edu	37	19	22940978	22940978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22940978G>A	ENST00000397104.3	-	5	1459	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S578L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTAAGATGTGAAGATTGCTT	0.358000													15	74					0	0	0.020292	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072001	17072001	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:17072001C>T	ENST00000359963.3	-	1	1699	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	480					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)				CTTCAGTTCCCACACCCATTA	0.512000													118	225					0	0	0.014410	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860868	38860868	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38860868C>T	ENST00000409235.3	+	28	3298	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.L1021L	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1061					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGCTGCCACTCAGTCCCAAGC	0.602000													33	88					0	0	0.013726	0	0
FADS6	283985	broad.mit.edu	37	17	72888659	72888659	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72888659G>A	ENST00000310226.6	-	2	362	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	122					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	p.F121F(1)|p.F116F(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCCACAAAGAAAAGCAGCC	0.597000													39	52					0	0	0.033182	0	0
GABRB1	2560	broad.mit.edu	37	4	47427997	47427997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:47427997C>T	ENST00000295454.3	+	9	1679	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	GABRB1_ENST00000538619.1_Missense_Mutation_p.L393F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	463					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTTTTCTCTTTTTAATGT	0.428000													70	89					0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16527465	16527465	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527465C>G	ENST00000311331.7	-	6	826	c.735G>C	c.(733-735)aaG>aaC	p.K245N		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAAATTATCTTCCCCAAAT	0.383000													100	101					0	0	0.014410	0	0
ADSS	159	broad.mit.edu	37	1	244582145	244582145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:244582145G>C	ENST00000366535.3	-	9	1178	c.862C>G	c.(862-864)Caa>Gaa	p.Q288E		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	288					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CCAACATTTTGAGGTGGCATA	0.378000													9	31					0	0	0.006214	0	0
ZNF90	7643	broad.mit.edu	37	19	20229706	20229706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:20229706G>A	ENST00000418063.2	+	4	1455	c.1343G>A	c.(1342-1344)aGt>aAt	p.S448N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	448						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATAATTCATAGTGGAGAGAAA	0.393000													5	34					0	0	0.014758	0	0
WISP3	8838	broad.mit.edu	37	6	112375518	112375518	+	Silent	SNP	G	G	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:112375518G>T	ENST00000361714.1	+	1	57	c.12G>T	c.(10-12)cgG>cgT	p.R4R	WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000230529.5_Intron|WISP3_ENST00000368666.2_5'UTR|WISP3_ENST00000604763.1_Intron			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	0					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGAACAAGCGGCGACTTCTCT	0.597000													76	53					6.09464e-36	6.68717e-36	0.014410	1	0
DOCK2	1794	broad.mit.edu	37	5	169507184	169507184	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:169507184G>A	ENST00000256935.8	+	50	5264	c.5184G>A	c.(5182-5184)gaG>gaA	p.E1728E	DOCK2_ENST00000520908.1_Silent_p.E1220E|DOCK2_ENST00000540750.1_Silent_p.E789E|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1728					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCATGAGTTCATGAGTG	0.532000													17	91					0	0	0.033300	0	0
NOL12	79159	broad.mit.edu	37	22	38087186	38087186	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:38087186C>G	ENST00000359114.4	+	6	555	c.485C>G	c.(484-486)tCc>tGc	p.S162C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	162						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CCTAGGATCTCCTCCCTCACA	0.577000													67	141					0	0	0.014410	0	0
PSMB1	5689	broad.mit.edu	37	6	170862293	170862293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:170862293C>T	ENST00000262193.6	-	1	136	c.38G>A	c.(37-39)aGa>aAa	p.R13K		NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CCCCAAGTCTCTGCCAGGAGC	0.607000													14	5					0	0	0.028581	0	0
TTBK2	146057	broad.mit.edu	37	15	43044889	43044889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:43044889G>A	ENST00000267890.6	-	14	2663	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	852					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAAATTTCTGAAGTTCCAAC	0.373000													56	64					0	0	0.014410	0	0
ETNPPL	64850	broad.mit.edu	37	4	109677623	109677623	+	Missense_Mutation	SNP	G	G	A	rs112469981		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:109677623G>A	ENST00000296486.3	-	4	515	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	ETNPPL_ENST00000510706.1_Missense_Mutation_p.R81C|ETNPPL_ENST00000512646.1_Missense_Mutation_p.R63C|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R115C	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CGAGCCAGGCGTAAGGCTAAG	0.448000													17	61					0	0	0.008871	0	0
MTIF2	4528	broad.mit.edu	37	2	55476578	55476578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:55476578C>T	ENST00000394600.3	-	10	1670	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	MTIF2_ENST00000403721.1_Missense_Mutation_p.E312K|MTIF2_ENST00000263629.4_Missense_Mutation_p.E312K	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	312	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATAATCTTCACATACCACA	0.433000													20	79					0	0	0.008871	0	0
CRP	1401	broad.mit.edu	37	1	159683510	159683510	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:159683510G>A	ENST00000255030.5	-	2	583	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	160	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGTTCCCACCGAAGGAATCCT	0.517000													116	249					0	0	0.014410	0	0
GBX1	2636	broad.mit.edu	37	7	150845677	150845677	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:150845677C>T	ENST00000297537.4	-	2	1090	c.1091G>A	c.(1090-1092)tGa>tAa	p.*364*		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	0						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCCATTCAGGGCCGGGC	0.567000													18	60					0	0	0.007413	0	0
RBM33	155435	broad.mit.edu	37	7	155511101	155511101	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:155511101C>G	ENST00000401878.3	+	9	1422	c.1224C>G	c.(1222-1224)agC>agG	p.S408R	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	408	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAGTTCCGAGCCAGCCGAGAC	0.458000													15	65					0	0	0.028581	0	0
MXD4	10608	broad.mit.edu	37	4	2252408	2252408	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252408C>G	ENST00000337190.2	-	6	806	c.493G>C	c.(493-495)Gag>Cag	p.E165Q		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	165					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGGCCAAACTCCATGCCCTCT	0.607000													47	95					0	0	0.014410	0	0
TRMT2A	27037	broad.mit.edu	37	22	20100675	20100675	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20100675G>A	ENST00000252136.7	-	10	1903	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	TRMT2A_ENST00000439169.2_Silent_p.L523L|TRMT2A_ENST00000403707.3_Silent_p.L505L|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Silent_p.L505L	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	505					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	p.L505L(1)		breast(2)|endometrium(2)|lung(5)	9						GGATGGCCACGAGGTGCTGGG	0.612000													88	172					0	0	0.014410	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478456	106478456	+	RNA	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:106478456C>G	ENST00000390596.2	-	0	110																											TCAGAGGCACCTCCCATATCC	0.592000													6	49					0	0	0.008291	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688006	62688006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:62688006G>A	ENST00000281156.4	-	4	726	c.448C>T	c.(448-450)Cat>Tat	p.H150Y		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.H150Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAATGCATGACTCATACGT	0.373000													19	56					0	0	0.014323	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652861	121652861	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:121652861C>G	ENST00000393386.2	+	12	4172	c.3761C>G	c.(3760-3762)tCt>tGt	p.S1254C	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1254					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						CATATGCACTCTGCTTCACTT	0.388000													46	64					0	0	0.013114	0	0
NLRP9	338321	broad.mit.edu	37	19	56244288	56244288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:56244288C>G	ENST00000332836.2	-	2	936	c.909G>C	c.(907-909)aaG>aaC	p.K303N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	303	NACHT.					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)		AATACGACTTCTTTTCAGATT	0.388000													112	25					0	0	0.014410	0	0
ETV6	2120	broad.mit.edu	37	12	12022873	12022873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12022873G>C	ENST00000396373.4	+	5	1253	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	327						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCGCCTGAAGAGCACGCCAT	0.582000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								68	86					0	0	0.014410	0	0
TXNRD2	10587	broad.mit.edu	37	22	19870908	19870908	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:19870908C>T	ENST00000535882.1	-	12	1022	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	TXNRD2_ENST00000400521.1_Silent_p.L342L|TXNRD2_ENST00000542719.1_Silent_p.L312L|TXNRD2_ENST00000400519.1_Silent_p.L341L|TXNRD2_ENST00000400518.1_Silent_p.L312L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	342					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGAGTCCACCAGGATCTTCT	0.617000													148	216					0	0	0.014410	0	0
NAT9	26151	broad.mit.edu	37	17	72767986	72767986	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:72767986G>A	ENST00000357814.3	-	7	574	c.501C>T	c.(499-501)agC>agT	p.S167S	NAT9_ENST00000581136.1_Silent_p.S162S|NAT9_ENST00000580301.1_Silent_p.S166S|NAT9_ENST00000580632.1_Silent_p.S167S|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000578822.1_Silent_p.S172S|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000582870.1_Silent_p.S171S|NAT9_ENST00000583476.1_3'UTR	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	167	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GAAAAACACTGCTCGTAGCCA	0.557000													90	136					0	0	0.014410	0	0
C12orf55	144535	broad.mit.edu	37	12	97051735	97051735	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:97051735C>G	ENST00000524981.4	+	37	5199	c.5176C>G	c.(5176-5178)Ctt>Gtt	p.L1726V						chromosome 12 open reading frame 55																		TGGTTCTAGTCTTACCTTTGA	0.353000													38	145					0	0	0.030466	0	0
TECTA	7007	broad.mit.edu	37	11	121008294	121008294	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:121008294T>G	ENST00000392793.1	+	11	3377	c.3106T>G	c.(3106-3108)Tgt>Ggt	p.C1036G	TECTA_ENST00000264037.2_Missense_Mutation_p.C1036G			O75443	TECTA_HUMAN	tectorin alpha	1036	TIL 2.				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)		GCGGAGTGAGTGTGGCTGCAA	0.572000													17	32					0	0	0.008871	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725379	140725379	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:140725379G>A	ENST00000253812.6	+	1	1779	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAGAG	0.692000													108	253					0	0	0.014410	0	0
MEF2A	4205	broad.mit.edu	37	15	100230446	100230446	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:100230446G>A	ENST00000354410.5	+	8	1306	c.677G>A	c.(676-678)gGg>gAg	p.G226E	MEF2A_ENST00000449277.2_Splice_Site_p.G156E|MEF2A_ENST00000453228.2_Splice_Site_p.G224E|MEF2A_ENST00000557942.1_Splice_Site_p.G224E|MEF2A_ENST00000338042.6_Splice_Site_p.G224E|MEF2A_ENST00000558812.1_Splice_Site_p.G156E|MEF2A_ENST00000557785.1_Splice_Site_p.G224E	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	226					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)			TTCCCCCCAGGGAATGGATTT	0.383000													4	22					0	0	0.009096	0	0
AGL	178	broad.mit.edu	37	1	100349714	100349714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:100349714G>C	ENST00000294724.4	+	18	2825	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	AGL_ENST00000370165.3_Missense_Mutation_p.E783Q|AGL_ENST00000361522.4_Missense_Mutation_p.E766Q|AGL_ENST00000361302.3_Missense_Mutation_p.E767Q|AGL_ENST00000370163.3_Missense_Mutation_p.E783Q|AGL_ENST00000370161.2_Missense_Mutation_p.E767Q|AGL_ENST00000361915.3_Missense_Mutation_p.E783Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	783					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAGAACTATTGAGAGAAACAC	0.328000													41	36					0	0	0.030466	0	0
POLE	5426	broad.mit.edu	37	12	133219161	133219161	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133219161C>G	ENST00000320574.5	-	37	4926	c.4883G>C	c.(4882-4884)gGa>gCa	p.G1628A	POLE_ENST00000535270.1_Missense_Mutation_p.G1601A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1628					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGCCGGGCTCCATGGCGCTG	0.582000								DNA polymerases (catalytic subunits)					67	87					0	0	0.014410	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539827	142539827	+	Missense_Mutation	SNP	G	G	C	rs2304735		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:142539827G>C	ENST00000295992.3	-	8	1316	c.1010C>G	c.(1009-1011)tCg>tGg	p.S337W	PCOLCE2_ENST00000485766.1_Silent_p.L257L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	337	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTGATGATCGAGACTGTGGC	0.502000													29	48					0	0	0.037714	0	0
SFSWAP	6433	broad.mit.edu	37	12	132203998	132203998	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:132203998G>C	ENST00000261674.4	+	4	661		c.e4-1		SFSWAP_ENST00000541286.1_Splice_Site	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)						mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTTTTATGCAGAAAAAAATGA	0.468000													52	81					0	0	0.014410	0	0
SLIT1	6585	broad.mit.edu	37	10	98762697	98762697	+	Silent	SNP	G	G	A	rs148583876		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:98762697G>A	ENST00000266058.4	-	35	4163	c.3918C>T	c.(3916-3918)aaC>aaT	p.N1306N	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.N1306N	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1306	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCCGGTGCCGTTGAGGATCT	0.607000													69	330					0	0	0.014410	0	0
CCDC110	256309	broad.mit.edu	37	4	186380089	186380089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:186380089T>C	ENST00000307588.3	-	6	1727	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	CCDC110_ENST00000393540.3_Missense_Mutation_p.H514R|CCDC110_ENST00000510617.1_Missense_Mutation_p.H551R	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	551						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGAGTTTTGTGTTCCTTACT	0.303000													13	35					0	0	0.024245	0	0
A2ML1	144568	broad.mit.edu	37	12	9004565	9004565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:9004565G>A	ENST00000299698.7	+	19	2600	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	A2ML1_ENST00000539547.1_Missense_Mutation_p.R316H	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	651						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAATCCTTTCGTCTTACTGCC	0.507000													42	172					0	0	0.033182	0	0
COQ6	51004	broad.mit.edu	37	14	74428598	74428598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:74428598C>G	ENST00000334571.2	+	11	1409	c.1369C>G	c.(1369-1371)Cca>Gca	p.P457A	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.P432A|COQ6_ENST00000238709.4_Missense_Mutation_p.P382A	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	457					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TGCAGTGTCTCCACTCAAAGT	0.463000													108	107					0	0	0.014410	0	0
MXD4	10608	broad.mit.edu	37	4	2252892	2252892	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:2252892C>G	ENST00000337190.2	-	5	704	c.391G>C	c.(391-393)Gag>Cag	p.E131Q		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	131					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GACAGCTGCTCCAGGCGCCGC	0.677000													26	45					0	0	0.015359	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677543	19677543	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:19677543G>C	ENST00000328041.6	+	14	1791	c.1594G>C	c.(1594-1596)Gtg>Ctg	p.V532L	RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	532						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGCCTCATTGTGGCCAGACA	0.607000													55	15					0	0	0.014410	0	0
LRIT1	26103	broad.mit.edu	37	10	85992365	85992365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:85992365G>C	ENST00000372105.3	-	4	1211	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	397						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTGGGCACAGAGGGTCCAGT	0.617000													36	109					0	0	0.021022	0	0
EEFSEC	60678	broad.mit.edu	37	3	128126998	128126998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:128126998G>A	ENST00000254730.6	+	7	1741	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	563						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CACCAGGCAGGAGGAGAGCGC	0.642000													101	123					0	0	0.014410	0	0
AC096579.13	0	broad.mit.edu	37	2	89156874	89156874	+	RNA	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:89156874C>G	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							ACTTCTCCCTCTAACACTCTC	0.577000													51	35					0	0	0.014410	0	0
NLRC5	84166	broad.mit.edu	37	16	57099172	57099172	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:57099172A>T	ENST00000436936.1	+	33	4428	c.4203A>T	c.(4201-4203)gaA>gaT	p.E1401D	NLRC5_ENST00000539144.1_Missense_Mutation_p.E1372D|NLRC5_ENST00000262510.6_Missense_Mutation_p.E1401D|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1372D			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1401					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCCTGTTAGAAGTCTGCGCCC	0.557000													7	25					0	0	0.004482	0	0
NTRK3	4916	broad.mit.edu	37	15	88678348	88678348	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:88678348G>A	ENST00000394480.2	-	10	1509	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	NTRK3_ENST00000357724.2_Silent_p.L396L|NTRK3_ENST00000540489.2_Silent_p.L396L|NTRK3_ENST00000317501.3_Silent_p.L396L|NTRK3_ENST00000542733.2_Silent_p.L298L|NTRK3_ENST00000557856.1_Silent_p.L396L|NTRK3_ENST00000558676.1_Silent_p.L396L|NTRK3_ENST00000360948.2_Silent_p.L396L|NTRK3_ENST00000355254.2_Silent_p.L396L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGGCTCCTTGAGGAAGTGGC	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			30	101					0	0	0.010818	0	0
MCCC1	56922	broad.mit.edu	37	3	182759419	182759419	+	Silent	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:182759419T>C	ENST00000492597.1	-	10	1578	c.876A>G	c.(874-876)ccA>ccG	p.P292P	MCCC1_ENST00000265594.4_Silent_p.P401P|MCCC1_ENST00000539926.1_Silent_p.P266P			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	401	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGTGCACTAATGGGCCTGCCA	0.458000													71	98					0	0	0.014410	0	0
TAAR8	83551	broad.mit.edu	37	6	132874467	132874467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr6:132874467G>C	ENST00000275200.1	+	1	636	c.636G>C	c.(634-636)atG>atC	p.M212I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	212						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CCCTTGTTATGATAATTCTTT	0.328000													9	22					0	0	0.004482	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590882	56590882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:56590882G>C	ENST00000338222.5	+	1	857	c.576G>C	c.(574-576)caG>caC	p.Q192H		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	192						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CCTTTGTTCAGAGCATGCTTT	0.478000													60	21					0	0	0.014410	0	0
TUBB8	347688	broad.mit.edu	37	10	93965	93965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93965C>G	ENST00000447903.2	-	4	466	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E123Q			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	123					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCTCAGCCTCCTTTCTGACA	0.597000													12	167					0	0	0.028581	0	0
FERMT2	10979	broad.mit.edu	37	14	53342019	53342019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:53342019G>C	ENST00000395631.2	-	8	1236	c.1020C>G	c.(1018-1020)gaC>gaG	p.D340E	FERMT2_ENST00000553373.1_Missense_Mutation_p.D340E|FERMT2_ENST00000343279.4_Missense_Mutation_p.D340E|FERMT2_ENST00000341590.3_Missense_Mutation_p.D340E|FERMT2_ENST00000399304.3_Missense_Mutation_p.D340E			Q96AC1	FERM2_HUMAN	fermitin family member 2	340	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAACTTCTTTGTCACTGTTGT	0.333000													50	57					0	0	0.014410	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715873	19715873	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:19715873C>T	ENST00000284885.3	-	12	1411	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	460	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTCCAATTGTCTCCATAATTT	0.294000													378	71					0	0	0.014410	0	0
F5	2153	broad.mit.edu	37	1	169511937	169511937	+	Silent	SNP	G	G	C	rs139113111		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:169511937G>C	ENST00000367796.3	-	13	2607	c.2406C>G	c.(2404-2406)gcC>gcG	p.A802A	F5_ENST00000367797.3_Silent_p.A797A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	797	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGAGAAGGGGCTTTCTGAG	0.433000													41	114					0	0	0.033182	0	0
STRA8	346673	broad.mit.edu	37	7	134925346	134925346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:134925346G>C	ENST00000275764.3	+	2	136	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	46					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						ACAGCTGCAGGAGCTTGAGCA	0.552000													27	117					0	0	0.019004	0	0
SFPQ	6421	broad.mit.edu	37	1	35656103	35656103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:35656103G>A	ENST00000357214.5	-	4	1509	c.1411C>T	c.(1411-1413)Caa>Taa	p.Q471*		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	471					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTACTTTTGATACATTGGA	0.308000			T	TFE3	papillary renal cell								14	12					0	0	0.020292	0	0
USP35	57558	broad.mit.edu	37	11	77907438	77907438	+	Silent	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:77907438C>T	ENST00000529308.1	+	2	408	c.147C>T	c.(145-147)taC>taT	p.Y49Y	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	49					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	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;1.04e-25)			CGCGCCTCTACGTGGGCGGCG	0.766000													8	57					0	0	0.006214	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924153	45924153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:45924153G>A	ENST00000395629.2	+	5	1135	c.805G>A	c.(805-807)Gag>Aag	p.E269K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.E279K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	279	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGGCCACTGAGGAGATCTA	0.682000													37	70					0	0	0.019004	0	0
RBM14	10432	broad.mit.edu	37	11	66392969	66392969	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:66392969G>A	ENST00000310137.4	+	2	1761	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	541	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTCCTACCGCGGCCAGCCA	0.657000													14	110					0	0	0.006122	0	0
CCDC40	55036	broad.mit.edu	37	17	78059829	78059829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:78059829G>C	ENST00000397545.4	+	14	2290	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	CCDC40_ENST00000374877.3_Missense_Mutation_p.E755Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	755					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)			CCTGGAGCTTGAAATCAAAAG	0.562000													123	197					0	0	0.014410	0	0
PAH	5053	broad.mit.edu	37	12	103288533	103288533	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:103288533C>T	ENST00000553106.1	-	3	804	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	PAH_ENST00000307000.2_Missense_Mutation_p.R106Q|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	111					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTATCTCGTGAAAGCTC	0.383000													18	67					0	0	0.006122	0	0
ZNF624	57547	broad.mit.edu	37	17	16527709	16527709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527709C>T	ENST00000311331.7	-	6	582	c.491G>A	c.(490-492)aGa>aAa	p.R164K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCCTTCCATTCTGGAATCCCA	0.393000													88	97					0	0	0.014410	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548903	75548903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:75548903G>A	ENST00000604729.1	+	3	709	c.412G>A	c.(412-414)Gat>Aat	p.D138N	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.D138N|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.D138N					zinc finger, SWIM-type containing 8																		TCAGCGAGGGGATCAGCTCTT	0.567000													65	67					0	0	0.014410	0	0
ZIC1	7545	broad.mit.edu	37	3	147130454	147130454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:147130454C>T	ENST00000282928.4	+	2	1861	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	378					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGTTCGCTGCGCAAACACAT	0.597000													61	395					0	0	0.014410	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360266	64360266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:64360266G>C	ENST00000377574.1	+	2	1165	c.418G>C	c.(418-420)Gac>Cac	p.D140H	SLC22A12_ENST00000377567.2_Missense_Mutation_p.D140H|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.D140H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.D140H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	140					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCTCGTGTGTGACTCTCATGC	0.642000													97	396					0	0	0.014410	0	0
NUTM2G	441457	broad.mit.edu	37	9	99697725	99697725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr9:99697725G>A	ENST00000354649.3	+	3	1544	c.829G>A	c.(829-831)Gag>Aag	p.E277K	NUTM2G_ENST00000372322.3_Missense_Mutation_p.E277K|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GATTTTCTACGAGATGGCGGC	0.652000													40	73					0	0	0.023175	0	0
FAM65A	79567	broad.mit.edu	37	16	67574554	67574554	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:67574554G>C	ENST00000540839.3	+	11	1028	c.808G>C	c.(808-810)Gac>Cac	p.D270H	FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000428437.2_Missense_Mutation_p.D264H|FAM65A_ENST00000379312.3_Missense_Mutation_p.D254H|FAM65A_ENST00000042381.4_Missense_Mutation_p.D250H|FAM65A_ENST00000422602.2_Missense_Mutation_p.D270H			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	254						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCAGGTGTGGGACAGTGAAGA	0.547000													193	174					0	0	0.014410	0	0
PTGDR	5729	broad.mit.edu	37	14	52735275	52735275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:52735275C>T	ENST00000306051.2	+	1	845	c.743C>T	c.(742-744)gCg>gTg	p.A248V	PTGDR_ENST00000553372.1_Missense_Mutation_p.A248V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	248						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGCCGCGCGCGGACGGGAGG	0.677000													75	180					0	0	0.014410	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12514236	12514236	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:12514236A>T	ENST00000314565.4	+	2	486	c.155A>T	c.(154-156)gAt>gTt	p.D52V	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.D33V|LOH12CR1_ENST00000298571.6_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	52										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AACGATCCCGATGTCATCAAG	0.488000													35	229					0	0	0.012213	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364531	220364531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:220364531G>A	ENST00000358951.2	-	14	1482	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	456					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTGGACCCTGAGAATTTCCA	0.478000													28	51					0	0	0.030593	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522875	46522875	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46522875G>A	ENST00000008938.4	-	2	361	c.318C>T	c.(316-318)taC>taT	p.Y106Y	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	106					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)		CACGGCCCTCGTATACGAGCC	0.587000													24	138					0	0	0.030593	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489599	233489599	+	Missense_Mutation	SNP	C	C	T	rs145103476		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:233489599C>T	ENST00000366624.3	+	3	1294	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	MLK4_ENST00000366623.3_Missense_Mutation_p.R345W	NM_032435.2	NP_115811.2																					AGTCCCCTATCGGGGCATTGA	0.507000													19	77					0	0	0.006122	0	0
SAMD9	54809	broad.mit.edu	37	7	92734156	92734156	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:92734156T>C	ENST00000379958.2	-	3	1524	c.1255A>G	c.(1255-1257)Aaa>Gaa	p.K419E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	419						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)			GGGTGGCATTTATTTGTTACA	0.328000													20	16					0	0	0.008871	0	0
FLG	2312	broad.mit.edu	37	1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	rs145566935		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152277865C>T	ENST00000368799.1	-	3	9532	c.9497G>A	c.(9496-9498)cGt>cAt	p.R3166H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552000									Ichthyosis				103	360					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39425946	39425946	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:39425946G>C	ENST00000280481.7	+	11	7082	c.6866G>C	c.(6865-6867)aGa>aCa	p.R2289T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2289	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCATTGTGAGAGTCCACACC	0.512000													36	39					0	0	0.023175	0	0
KLRC3	3823	broad.mit.edu	37	12	10572972	10572972	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:10572972C>G	ENST00000396439.2	-	1	222	c.178G>C	c.(178-180)Gac>Cac	p.D60H	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Missense_Mutation_p.D60H|KLRC3_ENST00000381903.2_Missense_Mutation_p.D60H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCTTGGCAGTCATATATTTTA	0.338000													16	123					0	0	0.028581	0	0
ZNF274	10782	broad.mit.edu	37	19	58724434	58724434	+	Silent	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:58724434C>A	ENST00000326804.4	+	9	2343	c.1884C>A	c.(1882-1884)acC>acA	p.T628T	ZNF274_ENST00000424679.2_Silent_p.T523T|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.T596T	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	629					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGCCTTCACCCAGAGCTCAC	0.517000													46	409					1.6237e-14	1.74125e-14	0.013114	1	0
ADRA1A	148	broad.mit.edu	37	8	26722121	26722121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:26722121G>C	ENST00000380573.3	-	2	1389	c.366C>G	c.(364-366)atC>atG	p.I122M	ADRA1A_ENST00000380572.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000380587.1_Missense_Mutation_p.I122M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.I122M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.I122M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.I122M|ADRA1A_ENST00000380581.2_Missense_Mutation_p.I122M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.I122M|ADRA1A_ENST00000358857.5_Missense_Mutation_p.I122M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.I122M			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	122					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGTAGCGGTCGATGGAGATGA	0.627000													102	100					0	0	0.014410	0	0
MARK4	57787	broad.mit.edu	37	19	45774817	45774817	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:45774817G>C	ENST00000300843.4	+	8	934	c.637G>C	c.(637-639)Gac>Cac	p.D213H	MARK4_ENST00000262891.4_Missense_Mutation_p.D213H	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	213	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCGAAGCTGGACACGTTCTG	0.597000													68	244					0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:124339330C>A	ENST00000338354.3	+	10	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	306	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTCAGGACATGAGTCCTA	0.607000													9	227					0.000274275	0.000280791	0.004482	1	0
HR	55806	broad.mit.edu	37	8	21978464	21978464	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr8:21978464C>A	ENST00000381418.4	-	11	3855	c.2375G>T	c.(2374-2376)cGc>cTc	p.R792L	HR_ENST00000312841.8_Missense_Mutation_p.R792L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	792							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTGGTGATGCGGTCATCCTG	0.672000													23	25					1.9806e-07	2.0633e-07	0.014323	1	0
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:133218793C>T	ENST00000320574.5	-	38	5186	c.5143G>A	c.(5143-5145)Gag>Aag	p.E1715K	POLE_ENST00000535270.1_Missense_Mutation_p.E1688K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGTTGATCTCAACAGTGGCT	0.557000								DNA polymerases (catalytic subunits)					97	112					0	0	0.014410	0	0
FBXL7	23194	broad.mit.edu	37	5	15937113	15937113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:15937113C>G	ENST00000504595.1	+	4	1775	c.1294C>G	c.(1294-1296)Cgg>Ggg	p.R432G	FBXL7_ENST00000329673.7_Missense_Mutation_p.R420G|FBXL7_ENST00000510662.1_Missense_Mutation_p.R385G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	432					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAACCTCAAGCGGCTCAGCCT	0.582000													23	70					0	0	0.012319	0	0
MEGF6	1953	broad.mit.edu	37	1	3425647	3425647	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:3425647T>C	ENST00000356575.4	-	12	1746	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	MEGF6_ENST00000294599.4_Missense_Mutation_p.E402G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	507						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACCAAACTTCTCTGTGAGCGT	0.672000													11	29					0	0	0.010729	0	0
CCDC71	64925	broad.mit.edu	37	3	49201104	49201104	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:49201104C>G	ENST00000321895.6	-	2	644	c.538G>C	c.(538-540)Gag>Cag	p.E180Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	180										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGGGCCTCAAGGACAACA	0.587000													118	58					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82546033	82546033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:82546033T>C	ENST00000333891.9	-	7	11606	c.11269A>G	c.(11269-11271)Atg>Gtg	p.M3757V	PCLO_ENST00000437081.1_Missense_Mutation_p.M477V|PCLO_ENST00000423517.2_Missense_Mutation_p.M3757V	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCGTGCCATTGTGTTGGTT	0.473000													26	31					0	0	0.027356	0	0
MT1H	4496	broad.mit.edu	37	16	56703818	56703818	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:56703818G>A	ENST00000569155.1	+	1	67	c.22G>A	c.(22-24)Gag>Aag	p.E8K	MT1H_ENST00000332374.4_Missense_Mutation_p.E8K			P80294	MT1H_HUMAN	metallothionein 1H	8	Beta.						metal ion binding|protein binding			lung(5)	5						CTGCTCCTGCGAGGCTGGTAA	0.567000													69	277					0	0	0.014410	0	0
IRS2	8660	broad.mit.edu	37	13	110435067	110435067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr13:110435067C>A	ENST00000375856.3	-	1	3848	c.3334G>T	c.(3334-3336)Gag>Tag	p.E1112*		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1112					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GACACCTGCTCCATGAGGCTC	0.751000													5	25					0.00198382	0.00202221	0.029380	1	0
LRFN5	145581	broad.mit.edu	37	14	42368155	42368155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr14:42368155G>A	ENST00000298119.4	+	5	3323	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LRFN5_ENST00000554171.1_3'UTR|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	712						integral to membrane		p.E712*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATTGTCCAGGAAACACAGGT	0.279000										HNSCC(30;0.082)			46	36					0	0	0.014410	0	0
PLCXD2	257068	broad.mit.edu	37	3	111394145	111394145	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:111394145C>A	ENST00000393934.3	+	1	623	c.53C>A	c.(52-54)tCc>tAc	p.S18Y	PLCXD2_ENST00000477665.1_Missense_Mutation_p.S18Y	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	18					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACCATCTGCTCCCCCAACCCC	0.582000													31	179					3.90053e-15	4.1924e-15	0.012213	1	0
BAGE2	85319	broad.mit.edu	37	21	11039331	11039331	+	RNA	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr21:11039331C>A	ENST00000470054.1	-	0	872									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)		ATTTTATCTTCAATTTGATCT	0.378000													21	376					2.70639e-06	2.80094e-06	0.014323	1	0
STEAP4	79689	broad.mit.edu	37	7	87913437	87913437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:87913437G>A	ENST00000380079.4	-	2	249	c.148C>T	c.(148-150)Cga>Tga	p.R50*	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.R50*|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.R50*|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	50					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TGGGGGTTTCGACTTCCAAAA	0.438000													55	55					0	0	0.014410	0	0
JAK3	3718	broad.mit.edu	37	19	17953857	17953857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:17953857C>T	ENST00000458235.1	-	5	644	c.545G>A	c.(544-546)gGa>gAa	p.G182E	JAK3_ENST00000534444.1_Missense_Mutation_p.G182E|JAK3_ENST00000527670.1_Missense_Mutation_p.G182E|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	182	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGCAGCTCTCCCGGCCGCTG	0.687000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								49	78					0	0	0.014410	0	0
EYA2	2139	broad.mit.edu	37	20	45633580	45633580	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr20:45633580G>C	ENST00000327619.5	+	4	529		c.e4-1		EYA2_ENST00000317304.6_Splice_Site|EYA2_ENST00000357410.3_Splice_Site	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTTCCACACAGATCTTGCCCA	0.552000													93	71					0	0	0.014410	0	0
DAGLA	747	broad.mit.edu	37	11	61487650	61487650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:61487650G>A	ENST00000257215.5	+	2	139	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	8					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTGGTGTTCCGGCGGCGCTGG	0.632000													52	95					0	0	0.014410	0	0
OVGP1	5016	broad.mit.edu	37	1	111966266	111966266	+	Silent	SNP	G	G	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:111966266G>A	ENST00000369732.3	-	5	437	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	OVGP1_ENST00000540696.1_Silent_p.L68L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	128					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)		TGTGTCCTCAGAAGGGATATA	0.433000													47	48					0	0	0.013114	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:178928079G>C	ENST00000263967.3	+	8	1514	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			82	74					0	0	0.014410	0	0
HECTD4	283450	broad.mit.edu	37	12	112681690	112681690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:112681690C>T	ENST00000550722.1	-	30	4594	c.4199G>A	c.(4198-4200)aGa>aAa	p.R1400K	HECTD4_ENST00000430131.2_Missense_Mutation_p.R1124K|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1374K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGATTTGCTCTAGTAAATTC	0.458000													47	171					0	0	0.014410	0	0
RANBP17	64901	broad.mit.edu	37	5	170667947	170667947	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr5:170667947C>A	ENST00000523189.1	+	23	2602	c.2438C>A	c.(2437-2439)tCc>tAc	p.S813Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	813					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGATCCTGTCCCTTGGGAGC	0.383000			T	TRD@	ALL								30	81					2.46105e-21	2.65726e-21	0.010818	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													4	24					0	0	0.021553	0	0
DDX53	168400	broad.mit.edu	37	X	23019522	23019522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:23019522G>C	ENST00000327968.5	+	1	1436	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	450	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGTTACCACAGAAAAAGAAAA	0.353000													6	75					0	0	0.021553	0	0
FLG	2312	broad.mit.edu	37	1	152276031	152276031	+	Silent	SNP	C	C	T	rs147295587	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:152276031C>T	ENST00000368799.1	-	3	11366	c.11331G>A	c.(11329-11331)tcG>tcA	p.S3777S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATCTACCGATTGCTCGT	0.587000									Ichthyosis				140	465					0	0	0.014410	0	0
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	158					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607000													84	264					0	0	0.014410	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404635	53404635	+	RNA	SNP	A	A	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:53404635A>C	ENST00000565421.1	-	0	406																											CTTCCACCTCATCATCATTAT	0.323000													3	40					0	0	0.004482	0	0
RPGR	6103	broad.mit.edu	37	X	38147249	38147249	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:38147249C>G	ENST00000378505.2	-	14	1794	c.1618G>C	c.(1618-1620)Gaa>Caa	p.E540Q	RPGR_ENST00000318842.7_Missense_Mutation_p.E540Q|RPGR_ENST00000339363.3_Missense_Mutation_p.E540Q|RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.E478Q|RPGR_ENST00000342811.3_Missense_Mutation_p.E540Q	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	540	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATCGTTTTCAGTAAGAGCT	0.358000													44	15					0	0	0.014410	0	0
GABRG1	2565	broad.mit.edu	37	4	46043250	46043250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:46043250C>A	ENST00000295452.4	-	9	1320	c.1153G>T	c.(1153-1155)Gga>Tga	p.G385*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	385					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAGTGGATCCAGGATGGAGA	0.388000													25	21					0.000586117	0.000598749	0.021523	1	0
ADAM30	11085	broad.mit.edu	37	1	120437228	120437228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:120437228G>C	ENST00000369400.1	-	1	1890	c.1732C>G	c.(1732-1734)Cat>Gat	p.H578D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	578	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCTGTAAATGAGTAGAAATT	0.408000													76	79					0	0	0.014410	0	0
CPS1	1373	broad.mit.edu	37	2	211473145	211473145	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr2:211473145G>C	ENST00000233072.5	+	19	2449	c.2253G>C	c.(2251-2253)aaG>aaC	p.K751N	CPS1_ENST00000430249.2_Missense_Mutation_p.K757N|CPS1_ENST00000451903.2_Missense_Mutation_p.K300N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	751					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGAAATTAAGAACGTCGTAT	0.423000													37	51					0	0	0.023175	0	0
TXNIP	10628	broad.mit.edu	37	1	145440778	145440779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr1:145440778_145440779insA	ENST00000369317.4	+	6	1312_1313	c.978_979insA	c.(979-981)accfs	p.T327fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	327					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATCCCTGATACCCCAGAAGG	0.480													34	140	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				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)			GGAGGAAATGgaagaagaagaag	0.562													12	668	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195599180	195599181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr3:195599180_195599181insG	ENST00000333602.6	-	10	2034_2035	c.1417_1418insC	c.(1417-1419)cgcfs	p.R473fs	TNK2_ENST00000428187.1_Frame_Shift_Ins_p.R505fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.R536fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.R473fs|TNK2_ENST00000316664.3_Frame_Shift_Ins_p.R473fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	473				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R473H(1)|p.R536H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCAGCAGTGGCGGGGGTCACTG	0.673													19	288	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													7	304	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134072435	134072435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr4:134072435delC	ENST00000264360.5	+	1	1966	c.1140delC	c.(1138-1140)ttcfs	p.F380fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCCCTTTTCAGCGTGACTG	0.577													203	191	---	---	---	---					
PPP1R3C	5507	broad.mit.edu	37	10	93390301	93390311	+	Frame_Shift_Del	DEL	GCAGATCCCAC	GCAGATCCCAC	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:93390301_93390311delGCAGATCCCAC	ENST00000238994.5	-	2	411_421	c.327_337delGTGGGATCTGC	c.(325-339)gcgtgggatctgcagfs	p.WDLQ110fs		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	110							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGATCAAACTGCAGATCCCACGCTGGTTCTT	0.483													104	81	---	---	---	---					
SH3PXD2A	9644	broad.mit.edu	37	10	105372779	105372780	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:105372779_105372780insG	ENST00000369774.4	-	12	1364_1365	c.1088_1089insC	c.(1087-1089)ccafs	p.P363fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.P335fs|SH3PXD2A_ENST00000427662.2_Frame_Shift_Ins_p.P225fs|SH3PXD2A_ENST00000538130.1_Frame_Shift_Ins_p.P198fs|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Frame_Shift_Ins_p.P230fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	363					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCCTTCGGCTGGTGGAGTTTC	0.589													7	463	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129903675	129903676	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr10:129903675_129903676insT	ENST00000368654.3	-	13	6803_6804	c.6428_6429insA	c.(6427-6429)accfs	p.T2143fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1783fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2143	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTGTGTGTGGTCTGTGTGAG	0.495													15	475	---	---	---	---					
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:67209168delG	ENST00000545016.1	-	4	575	c.490delC	c.(490-492)cacfs	p.H164fs	CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													10	99	---	---	---	---					
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:68480836delT	ENST00000255087.5	-	8	1243	c.1060delA	c.(1060-1062)attfs	p.I354fs		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	354					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473													9	2934	---	---	---	---					
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	GAG	-	rs3830296		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:69465988_69465990delGAG	ENST00000227507.2	+	5	1053_1055	c.826_828delGAG	c.(826-828)gagdel	p.E280del		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	280	Poly-Glu.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.704			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			8	1559	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													5	7	---	---	---	---					
LRRIQ1	84125	broad.mit.edu	37	12	85438589	85438590	+	Splice_Site	DEL	TA	TA	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr12:85438589_85438590delTA	ENST00000393217.2	+	4	397		c.e4+2			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											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)		TTAATTAAGGTATATATTCAAT	0.272													29	35	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292783	102292786	+	RNA	DEL	CTCA	CTCA	-	rs61084368		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr15:102292783_102292786delCTCA	ENST00000561463.1	+	0	829_832																		p.Q125E(1)									GATGCTGCTTCTCAGAGCTGCTGT	0.603													22	40	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-519)gacaagfs	p.DK172fs	IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													13	603	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													9	27	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)cagcaa>caa	p.3203_3204QQ>Q	ZFHX3_ENST00000397992.5_In_Frame_Del_p.2289_2290QQ>Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.650													11	505	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:7579315_7579316insC	ENST00000420246.2	-	4	503_504	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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)		AACTGACCGTGCAAGTCACAGA	0.545		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)			96	38	---	---	---	---					
ZNF624	57547	broad.mit.edu	37	17	16527443	16527444	+	Frame_Shift_Ins	INS	-	-	T	rs146366930		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr17:16527443_16527444insT	ENST00000311331.7	-	6	847_848	c.756_757insA	c.(754-759)aaaggcfs	p.G253fs		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCTTTGCTGCCTTTCATCTCCT	0.376													127	142	---	---	---	---					
GOLGA2P9	440518	broad.mit.edu	37	19	22785482	22785482	+	RNA	DEL	G	G	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:22785482delG	ENST00000600260.1	+	0	1571					NR_033899.1																						GCTGCATCCAGCTCTCTGGAG	0.607													97	152	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccctcc>ccc	p.S172del	SPRED3_ENST00000338502.4_In_Frame_Del_p.S128del|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													12	169	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													13	249	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													29	735	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													7	2	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	CAG	rs361923		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:20920813_20920814insCAG	ENST00000263205.7	+	7	819_820	c.750_751insCAG	c.(751-753)cag>CAGcag	p.251_251Q>QQ	MED15_ENST00000541476.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000425759.2_In_Frame_Ins_p.140_140Q>QQ|MED15_ENST00000292733.7_In_Frame_Ins_p.251_251Q>QQ|MED15_ENST00000406969.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000382974.2_In_Frame_Ins_p.180_180Q>QQ|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_In_Frame_Ins_p.56_56Q>QQ	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	251	Poly-Gln.			Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacaacagcaacagcagcagca	0.589													13	112	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661172	22661173	+	RNA	INS	-	-	C	rs7410785		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chr22:22661172_22661173insC	ENST00000426066.1	+	0	264_265					NR_027293.1																						CATACAGGTTTTCCCCCCCCAC	0.411													8	66	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44950105	44950111	+	Splice_Site	DEL	ATTAAGT	ATTAAGT	-	rs148188315		TCGA-DK-A1A6-01A-11D-A13W-08	TCGA-DK-A1A6-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df8a913c-5160-4fc5-950d-7c890e24e820	fcdb086f-6e88-49ce-a202-b611584a080c	g.chrX:44950105_44950111delATTAAGT	ENST00000377967.4	+	26	3915_3919	c.3874_3878delATTAAGT	c.(3874-3879)attaag>g	p.IK1292fs	KDM6A_ENST00000536777.1_Splice_Site_p.IK1247fs|KDM6A_ENST00000543216.1_Splice_Site_p.IK1213fs|KDM6A_ENST00000382899.4_Splice_Site_p.IK1299fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1292					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTTGAAATGATTAAGTAAGTCTTTTC	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								18	16	---	---	---	---