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
KIDINS220	57498	broad.mit.edu	37	2	8919858	8919858	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:8919858G>A	ENST00000256707.3	-	18	2497	c.2316C>T	c.(2314-2316)atC>atT	p.I772I	KIDINS220_ENST00000418530.1_Silent_p.I730I|KIDINS220_ENST00000427284.1_Silent_p.I772I|KIDINS220_ENST00000319688.5_Silent_p.I773I|KIDINS220_ENST00000473731.1_Silent_p.I772I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	772	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.I772I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCCATCGATGATGACCACCA	0.468000													21	36					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541521	55541521	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:55541521G>T	ENST00000220676.1	+	4	5227	c.5079G>T	c.(5077-5079)ttG>ttT	p.L1693F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1693					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L1693F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CATCTATGTTGCAGGAATTCC	0.403000													38	236					4.11147e-13	4.57638e-13	1	1	0
CPSF3	51692	broad.mit.edu	37	2	9581956	9581956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:9581956C>T	ENST00000460593.1	+	9	1973	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	CPSF3_ENST00000238112.3_Missense_Mutation_p.H316Y			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	316					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.H316Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAGCATGGATCATTTTGATGA	0.398000													40	42					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76994116	76994116	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:76994116G>A	ENST00000538941.2	-	20	2692	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	SCAPER_ENST00000324767.7_Silent_p.L831L|SCAPER_ENST00000563290.1_Silent_p.L831L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	830	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding	p.L831L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCATCTGACAGTTCACGCCCC	0.373000													33	21					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6623746	6623746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:6623746A>G	ENST00000315579.5	+	8	1631	c.832A>G	c.(832-834)Att>Gtt	p.I278V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.I233V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	278	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.I278V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTGGGAGAGATTGTAAGGTG	0.443000													34	33					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1527588	1527588	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:1527588T>C	ENST00000389470.4	-	20	2707	c.2708A>G	c.(2707-2709)tAc>tGc	p.Y903C	INTS1_ENST00000404767.3_Missense_Mutation_p.Y775C			Q8N201	INT1_HUMAN	integrator complex subunit 1	775					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.Y903C(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGGTAGGAGTAGTTGCTAGG	0.652000													61	85					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321348	154321348	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:154321348G>C	ENST00000368489.3	+	28	3426	c.3426G>C	c.(3424-3426)caG>caC	p.Q1142H		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1128					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q1142H(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAAGAAGCAGAAGGCCCAGC	0.637000													11	7					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345686	89345686	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:89345686T>C	ENST00000301030.4	-	9	7724	c.7264A>G	c.(7264-7266)Atc>Gtc	p.I2422V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.I2422V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2422						nucleus		p.I2422V(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCAGCTTGATGGCGTCCACG	0.607000													3	4					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123232480	123232480	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:123232480T>C	ENST00000349780.4	-	17	2056	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Y626C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Y626C|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Y626C	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	626					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.Y626C(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGATCACTATAAAGTGAAAA	0.363000													7	19					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169167598	169167598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:169167598C>A	ENST00000393743.3	-	30	4426	c.4135G>T	c.(4135-4137)Gga>Tga	p.G1379*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1379							ATP binding|ATP-dependent helicase activity|RNA binding	p.G1379*(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGGTCATCTCCCTTGGAAGCC	0.507000													3	22					1	1	1	1	0
TRIM25	7706	broad.mit.edu	37	17	54985878	54985878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:54985878C>G	ENST00000316881.4	-	2	693	c.644G>C	c.(643-645)gGg>gCg	p.G215A	TRIM25_ENST00000537230.1_Missense_Mutation_p.G215A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	215	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G215A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCTCGACGCCCCGTTGATCTG	0.582000													48	69					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72144225	72144225	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:72144225A>C	ENST00000337273.5	+	2	455	c.29A>C	c.(28-30)gAg>gCg	p.E10A	TNPO1_ENST00000454282.1_Missense_Mutation_p.E10A|TNPO1_ENST00000506351.2_Missense_Mutation_p.E2A|TNPO1_ENST00000447967.2_Missense_Mutation_p.E2A|TNPO1_ENST00000523768.1_Missense_Mutation_p.E10A|TNPO1_ENST00000513944.1_3'UTR	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	10					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.E2A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACCAAGATGGAGTATGAGTGG	0.562000													19	5					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887267	73887267	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:73887267G>T	ENST00000269383.3	-	6	1212	c.1147C>A	c.(1147-1149)Cac>Aac	p.H383N		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	383	B30.2/SPRY.					intracellular	zinc ion binding	p.H383N(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGTAGTGGTGCCCGGCCTGG	0.672000													6	52					0.00116845	0.00120281	1	1	0
DPEP1	1800	broad.mit.edu	37	16	89702959	89702959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:89702959G>T	ENST00000393092.3	+	5	680	c.389G>T	c.(388-390)cGg>cTg	p.R130L	DPEP1_ENST00000421184.1_Missense_Mutation_p.R130L|DPEP1_ENST00000261615.4_Missense_Mutation_p.R130L	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	130					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.R130L(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CAGGCCTTCCGGGAAGGGAAG	0.662000													9	23					0.00621372	0.00635494	1	1	0
CFB	629	broad.mit.edu	37	6	31919363	31919363	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:31919363G>A	ENST00000556679.1	+	29	3682	c.3627G>A	c.(3625-3627)aaG>aaA	p.K1209K	CFB_ENST00000425368.2_Silent_p.K707K|CFB_ENST00000456570.1_Silent_p.K1209K|CFB_ENST00000477310.1_Silent_p.K1058K			P00751	CFAB_HUMAN	complement factor B	707					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.K707K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TAGTTCACAAGAGAAGTCGTT	0.512000													65	164					0	0	1	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177637274	177637274	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:177637274G>A	ENST00000358344.3	+	7	1185		c.e7+1		HNRNPAB_ENST00000506339.1_Splice_Site|HNRNPAB_ENST00000506259.1_Intron|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000515193.1_Intron|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000504898.1_Splice_Site|HNRNPAB_ENST00000355836.5_Intron|HNRNPAB_ENST00000514633.1_Intron	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.?(1)		large_intestine(4)|prostate(1)|urinary_tract(1)	6						TACGACTACAGTAAGTAGGAG	0.637000													10	6					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91356957	91356957	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:91356957C>T	ENST00000261991.3	-	14	1883	c.1710G>A	c.(1708-1710)cgG>cgA	p.R570R	RPS6KA5_ENST00000536315.2_Silent_p.R491R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	570	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R570R(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GTGGCTTTAGCCGTGCAAATC	0.413000													3	55					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679190	104679190	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:104679190C>T	ENST00000369878.4	+	1	1141	c.953C>T	c.(952-954)tCa>tTa	p.S318L	CNNM2_ENST00000433628.2_Missense_Mutation_p.S318L|CNNM2_ENST00000369875.3_Missense_Mutation_p.S318L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		DUF21.				ion transport	integral to membrane		p.S318L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGCTGTGCTCACTGCTGCTG	0.632000													15	9					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76378450	76378450	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr13:76378450A>G	ENST00000357063.3	+	9	2103	c.843A>G	c.(841-843)gaA>gaG	p.E281E	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Silent_p.E190E|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Silent_p.E281E|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Silent_p.E281E			Q8WWI1	LMO7_HUMAN	LIM domain 7	281						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.E281E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGATTCGGAATTTACATTTA	0.398000													22	53					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201760010	201760010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:201760010G>A	ENST00000409020.1	+	4	917	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	NIF3L1_ENST00000409357.1_Missense_Mutation_p.R208Q|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R208Q|NIF3L1_ENST00000359683.4_Missense_Mutation_p.R181Q|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R208Q			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	208					positive regulation of transcription, DNA-dependent		transcription factor binding	p.R208Q(1)|p.R181Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAACAAACACGGATTAATCTG	0.383000													18	155					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186836	140186836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:140186836G>A	ENST00000530339.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A22T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A22T	NM_018907.2	NP_061730.1												p.A22T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTCCTCGCAGCCTGGGA	0.572000													31	96					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56152428	56152428	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:56152428C>T	ENST00000399503.3	+	2	484	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	162					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.R162C(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCATTTTAGTCGTGAGATGGA	0.373000													11	12					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28467360	28467360	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:28467360G>A	ENST00000261609.7	-	36	5574	c.5466C>T	c.(5464-5466)ggC>ggT	p.G1822G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1822					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G1822G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACAACTGGGGCCTGATGGAG	0.443000													16	29					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478446	79478446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:79478446C>T	ENST00000575842.1	-	3	996	c.570G>A	c.(568-570)atG>atA	p.M190I	ACTG1_ENST00000573283.1_Missense_Mutation_p.M190I|ACTG1_ENST00000331925.2_Missense_Mutation_p.M190I|ACTG1_ENST00000575087.1_Missense_Mutation_p.M190I			P63261	ACTG_HUMAN	actin, gamma 1	190					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.M190I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGAGGATCTTCATGAGGTAGT	0.642000													26	59					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146201	111146201	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:111146201T>A	ENST00000485317.1	-	3	1877	c.1204A>T	c.(1204-1206)Att>Ttt	p.I402F	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.I402F|KCNA2_ENST00000440270.1_Missense_Mutation_p.I402F			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	402						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I402F(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGTAAGGCAATAGTTAACACA	0.498000													41	46					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49153998	49153998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49153998G>A	ENST00000453664.1	-	8	1457	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	USP19_ENST00000398896.1_Missense_Mutation_p.S95L|USP19_ENST00000398898.2_Missense_Mutation_p.S327L|USP19_ENST00000417901.1_Missense_Mutation_p.S390L|USP19_ENST00000398892.3_Missense_Mutation_p.S327L|USP19_ENST00000398888.2_Missense_Mutation_p.S289L|USP19_ENST00000434032.2_Missense_Mutation_p.S390L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	289	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S390L(1)|p.S375L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCTCATACGAGTCATTCTT	0.537000													42	50					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159181706	159181706	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:159181706A>C	ENST00000297239.9	+	14	1537	c.1343A>C	c.(1342-1344)aAt>aCt	p.N448T	SYTL3_ENST00000360448.3_Missense_Mutation_p.N380T|SYTL3_ENST00000367081.3_Missense_Mutation_p.N174T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	448					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	p.N380T(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTCAGAGTAATGGAGAGCTC	0.557000													19	65					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106500253	106500253	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:106500253C>A	ENST00000261402.2	-	2	1670	c.291G>T	c.(289-291)atG>atT	p.M97I		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	97	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.M97I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGATGTGAACCATGTCTTGTT	0.343000													25	5					0.000375601	0.000389192	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52192283	52192283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:52192283G>A	ENST00000371471.2	-	4	3445	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	ZNF217_ENST00000302342.3_Missense_Mutation_p.S1007F			O75362	ZN217_HUMAN	zinc finger protein 217	1007					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S1007F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGTCGAGCTGGATGCTGGACT	0.517000													16	36					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863095	55863095	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:55863095A>G	ENST00000327335.4	-	1	827	c.828T>C	c.(826-828)aaT>aaC	p.N276N	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N276N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAACTGAAGTATTGAGCACAG	0.358000													16	179					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428141	135428141	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:135428141T>G	ENST00000394143.1	+	6	2567	c.2276T>G	c.(2275-2277)tTa>tGa	p.L759*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.L759*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.L554*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.L696*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.L554*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	759					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L759*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTACCACTTTACTACTAAAA	0.358000													23	25					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6210831	6210831	+	Splice_Site	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:6210831A>C	ENST00000350796.3	-	7	699		c.e7+1		CYTH3_ENST00000396741.2_Splice_Site|CYTH3_ENST00000488964.1_Splice_Site	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CTCTGCACTGACCTGTGGACT	0.662000													25	72					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762530	15762530	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:15762530A>T	ENST00000399451.2	-	8	1165	c.798T>A	c.(796-798)aaT>aaA	p.N266K	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.N299K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	266						nucleoplasm	protein binding	p.N299K(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATTCTTTTGATTCACAATAG	0.403000													94	212					0	0	1	0	0
LASP1	3927	broad.mit.edu	37	17	37026461	37026461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:37026461C>G	ENST00000318008.6	+	1	350	c.19C>G	c.(19-21)Cgg>Ggg	p.R7G	LASP1_ENST00000433206.2_5'UTR|LASP1_ENST00000435347.3_Missense_Mutation_p.R7G	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	7	LIM zinc-binding.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	p.R7G(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CAACTGCGCCCGGTGCGGCAA	0.672000			T	MLL	AML								15	12					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092722	143092722	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:143092722C>G	ENST00000367603.2	-	5	3896	c.3154G>C	c.(3154-3156)Gat>Cat	p.D1052H	HIVEP2_ENST00000367604.1_Missense_Mutation_p.D1052H|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1052H	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D1052H(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCATAATCAAATGATTTG	0.557000													33	22					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82910359	82910359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:82910359C>T	ENST00000306270.7	-	20	3406	c.2857G>A	c.(2857-2859)Gta>Ata	p.V953I	IBTK_ENST00000510291.1_Missense_Mutation_p.V953I|IBTK_ENST00000503631.1_Missense_Mutation_p.V752I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	953					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.V953I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCATCTTCTACTTCCAAATAG	0.313000													16	12					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52835110	52835110	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:52835110A>G	ENST00000449956.2	+	11	1337	c.1331A>G	c.(1330-1332)cAt>cGt	p.H444R	ITIH3_ENST00000416872.2_Missense_Mutation_p.H444R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	444	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.H444R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGGAGAACCATGGGTTTGCC	0.512000													21	21					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537926	38537926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:38537926G>A	ENST00000287675.5	+	1	164	c.68G>A	c.(67-69)gGg>gAg	p.G23E	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.G23E	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	23						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.G23E(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TTCGTGGCTGGGGCTGTAGTG	0.652000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131565073	131565073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:131565073C>G	ENST00000306010.7	+	5	561	c.529C>G	c.(529-531)Cac>Gac	p.H177D		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	177								p.H146D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CATCCCGTGCCACAGAGTGGT	0.632000								Direct reversal of damage					5	4					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100146891	100146891	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:100146891A>G	ENST00000395996.1	+	9	1349	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	VPS13B_ENST00000358544.2_Missense_Mutation_p.Y413C|VPS13B_ENST00000357162.2_Missense_Mutation_p.Y413C|VPS13B_ENST00000355155.1_Missense_Mutation_p.Y413C			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	413					protein transport			p.Y413C(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTAGTTATTACAGTCCACAG	0.274000													32	124					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120484008	120484008	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:120484008T>C	ENST00000354960.3	-	6	1430	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	PDE5A_ENST00000394439.1_Missense_Mutation_p.I319V|PDE5A_ENST00000264805.5_Missense_Mutation_p.I329V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	371	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.I371V(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCATCCACTATGAAAATGGTG	0.299000													23	64					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193566	72193566	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:72193566A>G	ENST00000356056.5	-	23	3588	c.3116T>C	c.(3115-3117)tTc>tCc	p.F1039S	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1020S|MYO9A_ENST00000566885.1_Missense_Mutation_p.F659S|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1039S|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1039S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1039	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.F1039S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGATGGAGGAAATGCTGCCT	0.443000													21	26					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348650	90348650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:90348650G>A	ENST00000300060.6	-	3	972	c.659C>T	c.(658-660)tCc>tTc	p.S220F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	220	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.S220F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCATGGGAAGGACTTCCGGGC	0.602000													20	14					0	0	1	0	0
MAF1	84232	broad.mit.edu	37	8	145161270	145161270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:145161270C>A	ENST00000534585.1	+	5	794	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	MAF1_ENST00000532522.1_Missense_Mutation_p.L135M|MAF1_ENST00000322428.5_Missense_Mutation_p.L135M			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	135					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.L135M(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACTGCAGTCTGTTCTCAGC	0.582000													30	15					6.38683e-12	7.03445e-12	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44556935	44556935	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:44556935T>C	ENST00000289547.4	-	16	3294	c.3239A>G	c.(3238-3240)cAc>cGc	p.H1080R	NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1053R|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H1007R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1080					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.H1080R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGGGCTTGTGATAGGCCAT	0.557000													20	49					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31648850	31648850	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:31648850T>G	ENST00000389082.5	-	2	395	c.131A>C	c.(130-132)gAa>gCa	p.E44A	DENND5B_ENST00000536562.1_Missense_Mutation_p.E79A|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Missense_Mutation_p.E79A|DENND5B_ENST00000354285.4_Missense_Mutation_p.E66A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	44						integral to membrane		p.E44A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCAAAATTTTCGCCTACAAC	0.338000													19	63					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135011911	135011911	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:135011911C>T	ENST00000304613.3	+	13	1998	c.1977C>T	c.(1975-1977)tgC>tgT	p.C659C	KNDC1_ENST00000368572.2_Silent_p.C659C|KNDC1_ENST00000368571.2_Silent_p.C594C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	659					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.C659C(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCACCCCTGCGGTGAAGAAG	0.682000													4	5					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43804317	43804317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43804317C>T	ENST00000372470.3	+	3	359	c.317C>T	c.(316-318)cCg>cTg	p.P106L	MPL_ENST00000413998.2_Missense_Mutation_p.P106L	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	106					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.P106L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTTCTTTCCGCTGCACCTC	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						42	41					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136287647	136287647	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:136287647C>T	ENST00000383202.2	-	5	610	c.354G>A	c.(352-354)ctG>ctA	p.L118L	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Silent_p.L118L|STAG1_ENST00000480733.1_Silent_p.L118L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	118					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.L118L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGATTAAATCCAGAAGTGCGA	0.353000													14	44					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32945996	32945996	+	Silent	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:32945996C>A	ENST00000395289.2	+	10	3273	c.1672C>A	c.(1672-1674)Cgg>Agg	p.R558R	BRD2_ENST00000374831.4_Silent_p.R558R|BRD2_ENST00000374825.4_Silent_p.R558R|BRD2_ENST00000395287.1_Silent_p.R558R|BRD2_ENST00000443797.2_Silent_p.R438R|BRD2_ENST00000449085.2_Silent_p.R511R			P25440	BRD2_HUMAN	bromodomain containing 2	558	Arg/Lys-rich (highly basic).|Poly-Lys.		R -> G (in a gastric adenocarcinoma sample; somatic mutation).		spermatogenesis	nucleus	protein serine/threonine kinase activity	p.R558R(1)		central_nervous_system(3)|stomach(2)	5						AAAGAAGAAACGGAAGGCAGA	0.527000													12	63					1.08611e-07	1.15974e-07	1	1	0
MORF4L1	10933	broad.mit.edu	37	15	79187188	79187188	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:79187188A>T	ENST00000331268.5	+	12	1150	c.946A>T	c.(946-948)Aca>Tca	p.T316S	MORF4L1_ENST00000379535.4_Missense_Mutation_p.T302S|MORF4L1_ENST00000426013.2_Missense_Mutation_p.T277S|MORF4L1_ENST00000558746.1_Missense_Mutation_p.T250S|MORF4L1_ENST00000558502.1_Missense_Mutation_p.T189S|MORF4L1_ENST00000559345.1_Missense_Mutation_p.T189S|MORF4L1_ENST00000561171.1_3'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	316	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.T316S(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GTTGGCTTATACACCTCTGGA	0.343000													36	43					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442959	51442959	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:51442959T>G	ENST00000418425.2	+	2	284	c.265T>G	c.(265-267)Ttc>Gtc	p.F89V	LETMD1_ENST00000380123.2_Missense_Mutation_p.F89V|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.F89V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.F33V|LETMD1_ENST00000547008.1_Missense_Mutation_p.F89V	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	89	LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.F89V(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTACACAATCTTCATGAAAGG	0.403000													7	211					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22005388	22005388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:22005388C>G	ENST00000261200.4	-	21	2556	c.2557G>C	c.(2557-2559)Gag>Cag	p.E853Q	ABCC9_ENST00000261201.4_Missense_Mutation_p.E853Q|ABCC9_ENST00000345162.2_Missense_Mutation_p.E817Q|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	853	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E853Q(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAATCCCCTCCTGCATTAAA	0.408000													16	205					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41980552	41980552	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41980552G>A	ENST00000216259.7	-	3	345	c.261C>T	c.(259-261)caC>caT	p.H87H	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	87					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.H87H(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCAGTCGTCCGTGCTTATACT	0.552000													51	36					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43886915	43886915	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43886915C>A	ENST00000562955.1	+	11	1567	c.1567C>A	c.(1567-1569)Cct>Act	p.P523T		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	523						peroxisome		p.P523T(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTTCACGCTTCCTGACAGCAC	0.542000													13	23					0.0135373	0.0138002	1	1	0
EMC3	55831	broad.mit.edu	37	3	10012301	10012301	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:10012301C>G	ENST00000245046.2	-	6	997	c.539G>C	c.(538-540)cGg>cCg	p.R180P	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3									p.R180P(1)									GTAAATGCTCCGAAGCCCAAA	0.403000													206	82					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48787780	48787780	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:48787780C>T	ENST00000316623.5	-	21	2880	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	809	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D809N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCGCATTCATCAATGTCTGAA	0.378000													64	99					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883123	60883123	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:60883123C>T	ENST00000253003.2	+	8	949	c.903C>T	c.(901-903)ctC>ctT	p.L301L	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	301					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	p.L301L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCCCATCCTCGCCAACGCGG	0.627000													9	11					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329130	131329130	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:131329130T>C	ENST00000358161.5	+	2	224	c.111T>C	c.(109-111)cgT>cgC	p.R37R	SPTAN1_ENST00000372739.3_Silent_p.R37R|SPTAN1_ENST00000372731.4_Silent_p.R37R			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	37					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	p.R37R(1)		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						CCCTTAGGCGTCAGAAGCTGG	0.493000													72	55					0	0	1	0	0
ACN9	57001	broad.mit.edu	37	7	96810409	96810409	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:96810409A>G	ENST00000432641.2	+	2	1394	c.260A>G	c.(259-261)gAa>gGa	p.E87G	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	87					regulation of gluconeogenesis	mitochondrial intermembrane space		p.E87G(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TTCCTCCCAGAAGAAAAACTT	0.388000													38	24					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72942918	72942918	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:72942918T>C	ENST00000328801.4	+	6	968	c.968T>C	c.(967-969)aTg>aCg	p.M323T		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	323						integral to membrane|intracellular	zinc ion binding	p.M323T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCACCCCACATGGGTGCCCAC	0.632000													80	180					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67679643	67679643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:67679643G>A	ENST00000334583.6	+	3	477	c.149G>A	c.(148-150)aGa>aAa	p.R50K	RLTPR_ENST00000545661.1_Missense_Mutation_p.R50K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	50								p.R50K(1)|p.R90K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTACGATGGAGAGCCTACCTG	0.667000													32	29					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544701	55544701	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:55544701G>A	ENST00000436346.1	-	20	4442	c.3601C>T	c.(3601-3603)Cgt>Tgt	p.R1201C	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Splice_Site_p.R1201C|CCDC88A_ENST00000413716.2_Splice_Site_p.R1200C|CCDC88A_ENST00000336838.6_Splice_Site_p.R1200C|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1201					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.R1200C(1)|p.R1201C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATAAATTACCGGTCTTCAAGG	0.303000													24	101					0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43970834	43970834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:43970834C>T	ENST00000336600.5	+	4	720	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	C6orf223_ENST00000442114.2_Missense_Mutation_p.R214C|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	234								p.R234C(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGCGGCGCTCCGCGGCGCTGG	0.667000													5	9					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563824	50563824	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:50563824C>T	ENST00000262794.5	+	11	1656	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	MOV10L1_ENST00000545383.1_Silent_p.L525L|MOV10L1_ENST00000395858.3_Silent_p.L525L|MOV10L1_ENST00000540615.1_Silent_p.L505L|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	525					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.L525L(1)|p.L505L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCCAGCTTCTGAACATGTC	0.438000													34	11					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118865646	118865646	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:118865646T>C	ENST00000504811.1	+	22	2084	c.1900T>C	c.(1900-1902)Tct>Cct	p.S634P	HSD17B4_ENST00000414835.2_Missense_Mutation_p.S469P|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S585P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S591P|HSD17B4_ENST00000256216.6_Missense_Mutation_p.S609P|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S347P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S472P|HSD17B4_ENST00000522415.1_3'UTR	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	609	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.S609P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TGCACCAACATCTGGTACTTC	0.363000													22	128					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75471826	75471826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:75471826C>T	ENST00000427180.1	+	1	502	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000329047.8_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	0			R -> C.		cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.R76W(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CTGTAGATGCCGGCAGCTTTC	0.657000													7	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566962	179566962	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:179566962C>T	ENST00000589042.1	-	108	30668	c.30444G>A	c.(30442-30444)tcG>tcA	p.S10148S	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S8904S|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S9831S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9831	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8904S(1)		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)			GAGCGATGACCGAGTAGACAC	0.448000													6	21					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8260975	8260975	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:8260975G>T	ENST00000402384.3	-	5	576	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	ICA1_ENST00000406470.2_Missense_Mutation_p.Q104K|ICA1_ENST00000396675.3_Missense_Mutation_p.Q104K|ICA1_ENST00000401396.1_Missense_Mutation_p.Q92K|ICA1_ENST00000265577.7_Missense_Mutation_p.Q103K|ICA1_ENST00000407906.1_Missense_Mutation_p.Q104K|ICA1_ENST00000422063.2_Missense_Mutation_p.Q104K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	104	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.Q104K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GTTTTATCTTGGAAACCTTGG	0.443000													10	101					7.48243e-07	7.90928e-07	1	1	0
HIST1H3A	8350	broad.mit.edu	37	6	26020953	26020953	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:26020953T>G	ENST00000357647.3	+	1	236	c.236T>G	c.(235-237)tTt>tGt	p.F79C		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	79					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.F79C(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCGCAGGACTTTAAAACAGAC	0.562000													13	25					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621154	41621154	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:41621154G>C	ENST00000373050.4	+	4	586	c.399G>C	c.(397-399)tcG>tcC	p.S133S				Q99750	MDFI_HUMAN	MyoD family inhibitor	194					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		p.S194S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCTGCAGCTCGGAGGACTCGT	0.647000													9	14					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122281692	122281692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:122281692G>A	ENST00000543163.1	-	13	1206	c.761C>T	c.(760-762)tCc>tTc	p.S254F	HPD_ENST00000289004.4_Missense_Mutation_p.S293F	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	293					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.S293F(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GTAGTACGTGGAGGGAACAGA	0.542000													22	29					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2315885	2315885	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:2315885A>T	ENST00000381458.5	+	11	1829	c.1766A>T	c.(1765-1767)gAc>gTc	p.D589V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	589					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D589V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTGGAGCGGGACATCATCCTG	0.602000													8	64					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062610	170062610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:170062610C>G	ENST00000263816.3	-	40	7764	c.7479G>C	c.(7477-7479)atG>atC	p.M2493I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2493					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.M2493I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCTTCAGCCATGGAATTAA	0.448000													42	60					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187692	152187692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:152187692G>A	ENST00000368801.2	-	3	6488	c.6413C>T	c.(6412-6414)tCt>tTt	p.S2138F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2138					keratinization		calcium ion binding|protein binding	p.S2138F(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGATCTAGAGCCGTGTTG	0.572000													49	1310					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74489638	74489638	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:74489638G>A	ENST00000394009.3	+	2	199	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2			coiled-coil domain containing 176									p.E26K(1)									AAAAACAGATGAATCTGTGGT	0.388000													8	16					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78433795	78433795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:78433795C>T	ENST00000278550.7	-	24	4180	c.3718G>A	c.(3718-3720)Gac>Aac	p.D1240N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.D1240N(2)									AGGCTCCCGTCAGAGCCACAG	0.562000													24	57					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420796	54420796	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:54420796T>A	ENST00000474759.1	+	4	424	c.376T>A	c.(376-378)Tta>Ata	p.L126I	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L32I|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L126I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L126I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	126						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.L126I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGATGCAGACTTACAGGTAAC	0.368000													3	9					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24392387	24392387	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:24392387A>C	ENST00000330966.7	-	29	3699	c.3537T>G	c.(3535-3537)atT>atG	p.I1179M	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.I1176M|MYOM3_ENST00000329601.7_Missense_Mutation_p.I1178M|MYOM3_ENST00000338909.5_Missense_Mutation_p.I69M			Q5VTT5	MYOM3_HUMAN	myomesin 3	1176	Ig-like C2-type 3.							p.I1176M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGCCTCTTCAATGCAGAGAA	0.582000													238	61					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32673877	32673877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:32673877G>A	ENST00000421745.2	+	22	4633	c.4499G>A	c.(4498-4500)aGc>aAc	p.S1500N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1500					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.S1472N(1)|p.S1500N(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATTATATAGCTCACCATTT	0.323000													24	91					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970340	87970340	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:87970340C>G	ENST00000369577.3	+	8	7036	c.6993C>G	c.(6991-6993)ccC>ccG	p.P2331P	ZNF292_ENST00000339907.4_Silent_p.P2326P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P2186P(1)|p.P2331P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAAATGCCCAAGACCAAAC	0.378000													14	12					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42687412	42687412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:42687412G>A	ENST00000232978.8	+	17	4522	c.4334G>A	c.(4333-4335)aGt>aAt	p.S1445N	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1445					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S1445N(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GACAGTGAAAGTGACCGAAGT	0.353000													9	19					0	0	1	0	0
DCPS	28960	broad.mit.edu	37	11	126176504	126176504	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:126176504G>A	ENST00000263579.4	+	2	570	c.241G>A	c.(241-243)Gtt>Att	p.V81I		NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	81					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	p.V81I(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		AGAGGATGCCGTTGTGATCCT	0.572000													13	6					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748140	41748140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:41748140G>A	ENST00000226382.2	-	3	988	c.629C>T	c.(628-630)gCg>gTg	p.A210V		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A210V(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						gccTCCATTCGCCCCGCAGCT	0.756000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	16					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697582	36697582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:36697582G>A	ENST00000216181.5	-	21	2859	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	877					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.Q877*(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACACCCACCTGAGACTGCAGC	0.607000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	56					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106547284	106547284	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:106547284C>A	ENST00000369096.4	+	4	755	c.521C>A	c.(520-522)gCt>gAt	p.A174D	PRDM1_ENST00000369089.3_Missense_Mutation_p.A40D|PRDM1_ENST00000369091.2_Missense_Mutation_p.A138D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	174	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A138D(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAAAACCTGGCTGCGTGTCAG	0.502000			"""D, N, Mis, F, S"""		DLBCL								23	37					1.22574e-08	1.32683e-08	1	1	0
CRH	1392	broad.mit.edu	37	8	67089287	67089287	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:67089287G>A	ENST00000276571.3	-	2	872	c.426C>T	c.(424-426)ggC>ggT	p.G142G		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	142					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	p.G142G(1)		breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCTGGTGGCCGCCGAGGGCAT	0.667000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8380347	8380347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:8380347C>G	ENST00000360416.3	-	42	5864	c.5726G>C	c.(5725-5727)cGg>cCg	p.R1909P	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.R1899P|MYH10_ENST00000269243.4_Missense_Mutation_p.R1878P|MYH10_ENST00000379980.4_Missense_Mutation_p.R1894P	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1878					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGCTTCATCCGAGCGTTGGC	0.562000													11	34					0	0	1	0	0
INSL4	3641	broad.mit.edu	37	9	5231710	5231710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:5231710C>T	ENST00000239316.4	+	1	292	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	63					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	p.R63C(1)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGAATCTGGACGTCCCAAAGG	0.517000													22	7					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912840	130912840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:130912840G>A	ENST00000261655.4	-	12	2408	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	749						cell junction|synapse		p.R749W(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGACCCCCGGCTGCTCTCT	0.617000													14	45					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574512	102574512	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:102574512G>A	ENST00000249377.4	+	2	433	c.152G>A	c.(151-153)gGc>gAc	p.G51D	LRRC17_ENST00000339431.4_Missense_Mutation_p.G51D|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	51					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		p.G51D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TACGCACCAGGCCTCCCGTGT	0.542000													6	31					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032664	41032664	+	Missense_Mutation	SNP	G	G	C	rs146778477		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr21:41032664G>C	ENST00000380620.4	+	5	770	c.178G>C	c.(178-180)Gtc>Ctc	p.V60L	B3GALT5_ENST00000398714.2_Missense_Mutation_p.V60L|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V60L|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V60L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.V60L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCCTTCCTCGTCCTGCTGGT	0.522000													12	113					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115833065	115833065	+	Silent	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:115833065A>T	ENST00000343348.6	-	4	1024	c.237T>A	c.(235-237)gtT>gtA	p.V79V	CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.V79V|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.V79V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	79	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.V79V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTCTATATCAACAGTATAAA	0.303000													5	53					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76079209	76079209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:76079209C>T	ENST00000335749.4	+	11	3999	c.3430C>T	c.(3430-3432)Cat>Tat	p.H1144Y	TNRC6C_ENST00000301624.4_Missense_Mutation_p.H1147Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.H1144Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.H1144Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.H1147Y|TNRC6C_ENST00000588061.1_Missense_Mutation_p.H1147Y	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1147					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.H1147Y(1)|p.H1144Y(1)		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)			TAATCCTCAACATATGACGAT	0.463000													49	42					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39877398	39877398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:39877398G>A	ENST00000221265.3	-	12	1358	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	PAF1_ENST00000221266.7_Missense_Mutation_p.S310L|PAF1_ENST00000595564.1_Missense_Mutation_p.S333L	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	343					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.S343L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTGGTGCCTGACTGAACCCC	0.567000													60	230					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261768	39261768	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:39261768G>A	ENST00000391415.1	+	1	185	c.128G>A	c.(127-129)aGc>aAc	p.S43N		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	43	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.S43N(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCCGCCCCAGCTGTTGTGTA	0.652000													8	29					0	0	1	0	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914710	37914710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:37914710G>A	ENST00000338825.4	+	2	490	c.257G>A	c.(256-258)aGt>aAt	p.S86N	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	86					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol		p.S86N(1)		endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				AGCCCTTCCAGTGATGAGCCC	0.602000													14	34					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56774141	56774141	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:56774141T>C	ENST00000337432.4	+	3	563	c.492T>C	c.(490-492)ttT>ttC	p.F164F	RAD51C_ENST00000583539.1_Silent_p.F164F|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	164					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.F164F(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGAAGTTTTATGGTTGATA	0.423000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				95	83					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2086985	2086985	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:2086985C>G	ENST00000382203.1	+	18	2892	c.2683C>G	c.(2683-2685)Ctc>Gtc	p.L895V	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L895V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L895V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L895V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	895	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.L895V(1)|p.L891V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGGGCCCTCCTCAACTTCCT	0.507000													75	13					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806433	22806433	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:22806433G>A	ENST00000361524.3	-	4	1597	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	ZNF521_ENST00000584787.1_Silent_p.S263S|ZNF521_ENST00000538137.2_Silent_p.S483S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	483					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S483S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGACAACTTCGGAACAGAAGT	0.443000			T	PAX5	ALL								37	64					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62366715	62366715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:62366715C>G	ENST00000519846.1	+	5	1118	c.646C>G	c.(646-648)Cgc>Ggc	p.R216G	CLVS1_ENST00000325897.4_Missense_Mutation_p.R216G|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	216	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.R216G(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTTTCCTGCCCGCTTTGGAGG	0.493000													179	117					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763959	23763959	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:23763959C>T	ENST00000336689.3	-	13	1153	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	ASAP3_ENST00000437606.2_Missense_Mutation_p.R361Q	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	370	PH.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.R370Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGGTACGTCCGGTTGTCTGT	0.682000													7	92					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669219	234669219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:234669219G>C	ENST00000360418.3	+	1	286	c.286G>C	c.(286-288)Ggg>Cgg	p.G96R	UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000608383.1_Missense_Mutation_p.G96R|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.G96R|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron			P22309	UD11_HUMAN		96					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.G96R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTTAGTCTCGGGCATAATGT	0.428000													67	137					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552363	17552363	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:17552363C>T	ENST00000375471.4	+	5	558	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	156					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R156W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAACTGTGACCGGGACAATCA	0.597000													20	162					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	58					0.150653	0.152102	1	1	0
LMF1	64788	broad.mit.edu	37	16	919947	919947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:919947C>T	ENST00000262301.11	-	9	1370	c.1352G>A	c.(1351-1353)cGg>cAg	p.R451Q	LMF1_ENST00000568897.1_Missense_Mutation_p.R234Q|LMF1_ENST00000399843.2_Missense_Mutation_p.R451Q|LMF1_ENST00000543238.1_Missense_Mutation_p.R214Q	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	451						endoplasmic reticulum membrane|integral to membrane		p.R451Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GAGGCAGGGCCGTCTGCTGGG	0.672000													10	7					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999502	112999502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:112999502G>A	ENST00000271277.6	+	6	1613	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	463						actin cytoskeleton	protein binding	p.R463H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCAGCTCGCCACAAATTT	0.542000													40	120					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648917	24648917	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:24648917T>G	ENST00000311457.3	+	18	2032	c.1433T>G	c.(1432-1434)cTg>cGg	p.L478R	REC8_ENST00000559919.1_Missense_Mutation_p.L478R|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	479	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		p.L478R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTGCTCTCACTGGAAGCAGTG	0.612000													26	48					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39487881	39487881	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:39487881A>G	ENST00000263881.3	-	29	2498	c.2174T>C	c.(2173-2175)tTt>tCt	p.F725S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.F641S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.F278S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.F704S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	725	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.F725S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGCATTTCAAACATTCTAAG	0.363000													17	45					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575409	19575409	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:19575409A>C	ENST00000328405.2	+	16	3408	c.3142A>C	c.(3142-3144)Agc>Cgc	p.S1048R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1048	Ser-rich.					integral to membrane	two-component sensor activity	p.S1048R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTTCTCCCAAGCAGATCAGA	0.488000													56	56					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163136571	163136571	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:163136571C>A	ENST00000263642.2	-	8	1971	c.1576G>T	c.(1576-1578)Gat>Tat	p.D526Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	526					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.D526Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTCAGTTGATCAAGGTTTTCT	0.328000													32	40					2.80507e-11	3.05743e-11	1	1	0
FBN1	2200	broad.mit.edu	37	15	48752456	48752456	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:48752456G>C	ENST00000316623.5	-	43	5738	c.5283C>G	c.(5281-5283)acC>acG	p.T1761T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1761					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.T1761T(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGGTAAACCGGTATAAATGT	0.418000													15	21					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680639	72680639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72680639C>T	ENST00000261180.4	+	2	1054	c.958C>T	c.(958-960)Cac>Tac	p.H320Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	320					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.H320Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGTTACGGATCACTTTTCACA	0.408000													127	531					0	0	1	0	0
PTP4A2	8073	broad.mit.edu	37	1	32381498	32381498	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:32381498G>C	ENST00000344035.6	-	3	1180	c.187C>G	c.(187-189)Cta>Gta	p.L63V	PTP4A2_ENST00000356536.3_Missense_Mutation_p.L63V|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_Missense_Mutation_p.L63V|PTP4A2_ENST00000602725.1_Missense_Mutation_p.L63V|PTP4A2_ENST00000457805.2_Intron	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	63						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	p.L63V(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACACTCACTAGAACGTGGATT	0.338000													12	38					0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514308	58514308	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:58514308C>T	ENST00000370996.3	-	1	1044	c.679G>A	c.(679-681)Gca>Aca	p.A227T	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	227	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.A227T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGGGGCCTGCGGGCCCGCGC	0.692000													12	34					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680477	72680477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72680477C>T	ENST00000261180.4	+	2	892	c.796C>T	c.(796-798)Cag>Tag	p.Q266*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	266					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.Q266*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGTGTTACTCAGTTTTCGCC	0.363000													82	441					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802415	67802415	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr13:67802415T>C	ENST00000544246.1	-	2	849	c.158A>G	c.(157-159)aAt>aGt	p.N53S	PCDH9_ENST00000377865.2_Missense_Mutation_p.N53S|PCDH9_ENST00000456367.1_Missense_Mutation_p.N53S|PCDH9_ENST00000377861.3_Missense_Mutation_p.N53S|PCDH9_ENST00000328454.5_Missense_Mutation_p.N53S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	53	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N53S(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGGCAGCATTGATGTGAGA	0.458000													24	12					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955715	18955715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:18955715G>A	ENST00000302797.3	-	1	841	c.617C>T	c.(616-618)tCc>tTc	p.S206F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	206					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S206F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATCTTCCGGGATCCACAGAG	0.502000													11	52					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65242174	65242174	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:65242174G>A	ENST00000374737.4	-	8	1239	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	VSIG4_ENST00000412866.2_Silent_p.Y283Y|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	377					complement activation, alternative pathway	integral to membrane	protein binding	p.Y377Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGCGGGCGTAGTTGCCAT	0.517000													7	14					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1263M(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACGGTTTGCCGTCTTTCCTGA	0.502000										HNSCC(64;0.19)			48	92					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483770	71483770	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:71483770T>A	ENST00000393539.2	-	6	971	c.158A>T	c.(157-159)aAt>aTt	p.N53I	ZNF23_ENST00000357254.4_Missense_Mutation_p.N53I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_5'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000564528.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.N53I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N53I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGTCAAATCATTGTCAGTCTG	0.318000													14	36					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20876477	20876477	+	RNA	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:20876477T>C	ENST00000556948.1	-	0	123																											GCTGGGTTAATAAACAAAATA	0.338000													7	54					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532000													25	69					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388153	104388153	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:104388153C>G	ENST00000330295.5	+	2	480	c.338C>G	c.(337-339)tCa>tGa	p.S113*	CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.S99*|CTHRC1_ENST00000415886.2_Nonsense_Mutation_p.S113*	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	113						collagen		p.S113*(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCATGGAGTTCATTGAATTAT	0.378000													14	191					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203667472	203667472	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:203667472A>G	ENST00000357681.5	+	3	1504	c.381A>G	c.(379-381)gaA>gaG	p.E127E	ATP2B4_ENST00000341360.2_Silent_p.E127E|ATP2B4_ENST00000367219.3_Silent_p.E127E|ATP2B4_ENST00000391954.2_Silent_p.E127E|ATP2B4_ENST00000367218.3_Silent_p.E127E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	127					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.E127E(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCTGGTGAAGAAAATGAAC	0.483000													23	65					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102684688	102684688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:102684688G>A	ENST00000238961.4	+	5	2472	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	FAM178A_ENST00000370269.3_Missense_Mutation_p.A644T|FAM178A_ENST00000370271.3_Missense_Mutation_p.A644T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A									p.A644T(1)									AAAGCCTCCTGCTCTTTCCAA	0.403000													89	37					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18035826	18035826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:18035826G>C	ENST00000205890.5	+	11	4604	c.4266G>C	c.(4264-4266)caG>caC	p.Q1422H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1422	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.Q1422H(1)		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)					TGCCTGCCCAGCTCAGGCAGG	0.582000													12	57					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383113	37383113	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:37383113T>G	ENST00000520965.1	-	6	889	c.823A>C	c.(823-825)Agt>Cgt	p.S275R	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.S194R|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S194R(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCCACGACTAAAGGACTTC	0.368000													24	105					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97863074	97863074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:97863074G>A	ENST00000447648.2	-	11	1630	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	TECPR1_ENST00000542604.1_Missense_Mutation_p.S374L|TECPR1_ENST00000379795.3_Missense_Mutation_p.S444L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	444						integral to membrane	protein binding	p.S444L(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCTGAGGCTGAGTTCCCTGT	0.647000													6	7					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108273235	108273235	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:108273235T>A	ENST00000295746.8	-	18	2388	c.2312A>T	c.(2311-2313)gAa>gTa	p.E771V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E612V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	771						cytoplasm|integral to membrane	protein binding	p.E771V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCATTTTGTTCCTTGAGTGA	0.269000													5	12					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994736	121994736	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:121994736G>C	ENST00000498619.1	+	5	1893	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	CASR_ENST00000296154.5_Silent_p.L485L|CASR_ENST00000490131.1_Silent_p.L485L	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	485					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L485L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGGTGACCTGGTGGGGAACT	0.488000													63	96					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976326	36976326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:36976326G>C	ENST00000282516.8	+	9	1816	c.1317G>C	c.(1315-1317)caG>caC	p.Q439H	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Q439H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	439	Gln-rich.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.Q439H(4)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTACAACAGAACACTTCAG	0.423000													22	46					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11367379	11367379	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:11367379C>T	ENST00000315872.6	-	6	1317		c.e6+1		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.?(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TATTTACTTACCCACTAGCAT	0.343000													32	137					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74315653	74315653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:74315653G>A	ENST00000565898.1	+	3	1171	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PML_ENST00000435786.2_Missense_Mutation_p.E363K|PML_ENST00000268058.3_Missense_Mutation_p.E363K|PML_ENST00000395135.3_Missense_Mutation_p.E363K|PML_ENST00000268059.6_Missense_Mutation_p.E363K|PML_ENST00000563500.1_Missense_Mutation_p.E363K|PML_ENST00000359928.4_Missense_Mutation_p.E363K|PML_ENST00000569965.1_Missense_Mutation_p.E363K|PML_ENST00000395132.2_Missense_Mutation_p.E363K|PML_ENST00000567543.1_Missense_Mutation_p.E363K|PML_ENST00000569161.1_3'UTR|PML_ENST00000354026.6_Missense_Mutation_p.E363K|PML_ENST00000564428.1_Missense_Mutation_p.E363K|PML_ENST00000569477.1_Missense_Mutation_p.E363K|PML_ENST00000436891.3_Missense_Mutation_p.E363K			P29590	PML_HUMAN	promyelocytic leukemia	363					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E363K(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCAGGAGGAGCCCCAGAG	0.652000			T	"""RARA, PAX5"""	"""APL, ALL"""								9	20					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34994369	34994369	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr21:34994369C>T	ENST00000361534.2	-	5	361	c.222G>A	c.(220-222)ctG>ctA	p.L74L	CRYZL1_ENST00000445393.1_Silent_p.L50L|CRYZL1_ENST00000381540.3_Silent_p.L50L|CRYZL1_ENST00000413017.2_Silent_p.L50L|CRYZL1_ENST00000290244.5_Silent_p.L50L|CRYZL1_ENST00000381554.3_Silent_p.L50L|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	50					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	p.L50L(1)		lung(1)|prostate(1)|urinary_tract(1)	3						TCATTTCTGCCAGAAGCTAAA	0.338000													50	90					0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139065815	139065815	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:139065815A>T	ENST00000495075.1	+	4	700	c.268A>T	c.(268-270)Act>Tct	p.T90S	MRPS22_ENST00000478464.1_Missense_Mutation_p.T49S|MRPS22_ENST00000465056.1_Missense_Mutation_p.T89S|MRPS22_ENST00000310776.4_Missense_Mutation_p.T90S			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	90						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.T90S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CTTGCAGAAGACTTTTAAGCC	0.413000													55	70					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958158	121958158	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:121958158A>C	ENST00000379692.4	-	4	1494	c.968T>G	c.(967-969)aTg>aGg	p.M323R		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	323	Fibronectin type-III 1.							p.M323R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGCGGTGCTCATGTTGCTGTT	0.418000													29	46					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262557	69262557	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:69262557G>C	ENST00000408913.2	-	1	633	c.455C>G	c.(454-456)tCg>tGg	p.S152W				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	308					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S152W(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGAGGGAGCGAGTCCCTTAA	0.617000													27	31					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669236	234669236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:234669236G>T	ENST00000360418.3	+	1	303	c.303G>T	c.(301-303)gaG>gaT	p.E101D	UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000608383.1_Missense_Mutation_p.E101D|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.E101D|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron			P22309	UD11_HUMAN		101					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.E101D(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGTTTTTGAGAATGATTCTT	0.423000													98	83					1.7318e-42	1.96229e-42	1	1	0
UBR4	23352	broad.mit.edu	37	1	19449357	19449357	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:19449357G>C	ENST00000375267.2	-	66	9789	c.9786C>G	c.(9784-9786)tcC>tcG	p.S3262S	UBR4_ENST00000375226.2_Silent_p.S3238S|UBR4_ENST00000375254.3_Silent_p.S3262S|UBR4_ENST00000375217.2_Silent_p.S3255S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3262					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S3262S(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTGCAAGGCGGAGCCTGAGC	0.562000													22	128					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69959346	69959346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:69959346C>T	ENST00000359154.2	+	11	1294	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.S398L|WWP2_ENST00000542271.1_Missense_Mutation_p.S282L|WWP2_ENST00000448661.1_Missense_Mutation_p.S398L|WWP2_ENST00000568684.1_5'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	398					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.S398L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAGTGCTTCGACTGACCAT	0.488000													242	221					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110459882	110459882	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:110459882A>T	ENST00000506538.2	+	21	3086	c.2513A>T	c.(2512-2514)aAt>aTt	p.N838I	WDR36_ENST00000513710.2_Missense_Mutation_p.N838I	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	838					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.N838I(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTGGTAAATAATAAGTGTAAG	0.279000													14	77					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337895	42337895	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:42337895A>G	ENST00000262418.6	-	6	517	c.362T>C	c.(361-363)cTa>cCa	p.L121P	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	121					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.L121P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCAGGTCTAGGAGGACAGT	0.597000													13	47					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976675	34976675	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:34976675A>G	ENST00000242315.3	+	5	869	c.787A>G	c.(787-789)Ata>Gta	p.I263V	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.I263V	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	263							calcium ion binding	p.I263V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCGAGGCCACATAGAGTGGCC	0.622000													66	60					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763236	77763236	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:77763236G>T	ENST00000521891.2	+	10	4527	c.4079G>T	c.(4078-4080)tGg>tTg	p.W1360L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.W1334L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.W1315L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W1315L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W1360L(1)		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)			GTCTCAGAATGGAATAAAAAT	0.423000										HNSCC(33;0.089)			8	33					1.06961e-07	1.14601e-07	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142499680	142499680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:142499680G>A	ENST00000273482.6	+	5	1058	c.667G>A	c.(667-669)Gat>Aat	p.D223N	TRPC1_ENST00000476941.1_Missense_Mutation_p.D257N	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	257					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.D223N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTATAGGAATGATTATGAGGA	0.343000													15	61					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4171955	4171955	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:4171955A>T	ENST00000404826.2	+	28	4268		c.e28-1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion	integral to membrane		p.?(1)		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)		TTTTCCCTTCAGCCCCAGGCC	0.582000													8	12					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406722	75406722	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:75406722C>T	ENST00000394810.2	-	4	2837	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	SYNPO2L_ENST00000372873.4_Silent_p.Q672Q	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	896	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.Q672Q(1)|p.Q896Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGCAGTGGGCTGGGGTGCCG	0.627000													31	13					0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20248869	20248869	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:20248869C>G	ENST00000375116.3	-	3	265	c.208G>C	c.(208-210)Ggg>Cgg	p.G70R		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	70					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.G70R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGACGCCCGTAGCAGCAG	0.612000													5	54					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	6					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878329	28878329	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:28878329G>T	ENST00000337120.5	+	1	4205	c.914G>T	c.(913-915)cGc>cTc	p.R305L	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R305L|SH2B1_ENST00000359285.5_Missense_Mutation_p.R305L|SH2B1_ENST00000395532.4_Missense_Mutation_p.R305L|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	305	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.R305L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGAGGAAGTCGCCTGGAGTTC	0.607000													23	25					2.32416e-17	2.61468e-17	1	1	0
OR8H2	390151	broad.mit.edu	37	11	55872916	55872916	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:55872916C>A	ENST00000313503.1	+	1	398	c.398C>A	c.(397-399)aCa>aAa	p.T133K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T133K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTACACTACACAGTTATTATG	0.463000										HNSCC(53;0.14)			140	78					1.02165e-56	1.1618e-56	1	1	0
SELL	6402	broad.mit.edu	37	1	169677940	169677940	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:169677940G>A	ENST00000236147.4	-	3	289	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	30					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.F30F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GATGTGCCAGGAAATCTGCAA	0.433000													4	4					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982236	58982236	+	Missense_Mutation	SNP	G	G	C	rs145109076	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:58982236G>C	ENST00000536459.2	+	4	1086	c.377G>C	c.(376-378)cGg>cCg	p.R126P	ZNF324_ENST00000196482.3_Missense_Mutation_p.R126P			O75467	Z324A_HUMAN	zinc finger protein 324	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R126P(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGAGACAACGGGGTGCCTCC	0.607000													17	112					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532627	100532627	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:100532627T>A	ENST00000372907.3	-	9	927	c.916A>T	c.(916-918)Atg>Ttg	p.M306L	TAF7L_ENST00000372905.2_Missense_Mutation_p.M220L|TAF7L_ENST00000324762.6_Missense_Mutation_p.M220L|TAF7L_ENST00000356784.1_Missense_Mutation_p.M220L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	306					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.M306L(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGCTGCTCATTCCCGAGGAT	0.458000													69	38					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599683	123599683	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:123599683A>G	ENST00000340011.5	+	5	1547	c.1190A>G	c.(1189-1191)tAt>tGt	p.Y397C	SPAM1_ENST00000439500.1_Missense_Mutation_p.Y397C|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y397C|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y397C|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y397C	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	397					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.Y397C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TCAAGTGACTATCTTCACCTC	0.418000													18	38					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299121	139299121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:139299121C>T	ENST00000406875.3	-	8	1995	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	HIPK2_ENST00000342645.6_Missense_Mutation_p.S634N|HIPK2_ENST00000428878.2_Missense_Mutation_p.S607N	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	634	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.S634N(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CAGGGGCATGCTCCGCTGGGC	0.577000													3	11					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27277225	27277225	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:27277225C>T	ENST00000320567.5	-	3	1150	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	354								p.Q354Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTCGTCTCCTGGGAGATCT	0.567000													4	98					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14492807	14492807	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:14492807G>A	ENST00000344204.4	+	49	7788	c.7764G>A	c.(7762-7764)atG>atA	p.M2588I	TRIO_ENST00000537187.1_Missense_Mutation_p.M2412I|TRIO_ENST00000344135.5_Missense_Mutation_p.M87I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2588	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.M2588I(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCAGAACATGTTTCTGGTGT	0.562000													5	24					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207109079	207109079	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:207109079T>C	ENST00000356495.4	-	5	1313	c.1130A>G	c.(1129-1131)gAa>gGa	p.E377G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	377	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding	p.E377G(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTTTGCTTTCCTTACGGTT	0.622000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	4					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784901	9784901	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:9784901C>T	ENST00000304374.2	+	1	1644	c.1248C>T	c.(1246-1248)aaC>aaT	p.N416N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	416					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.N416N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGATGCCCAACGCCGTTACCC	0.562000													20	42					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733066	56733066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:56733066C>A	ENST00000587340.1	-	7	2064	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*	ZSCAN5A_ENST00000254165.3_Nonsense_Mutation_p.E340*|ZSCAN5A_ENST00000592355.1_Nonsense_Mutation_p.E456*|ZSCAN5A_ENST00000587492.1_Nonsense_Mutation_p.E311*|ZSCAN5A_ENST00000391713.1_Nonsense_Mutation_p.E457*			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	457					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E457*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGCTGGTGCTCCTTCAGGCTC	0.498000													22	90					1.50039e-11	1.64105e-11	1	1	0
PSMB8	5696	broad.mit.edu	37	6	32808759	32808759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:32808759G>A	ENST00000374881.2	-	6	1085	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	PSMB8_ENST00000395339.3_Nonsense_Mutation_p.Q246*|PSMB8_ENST00000374882.3_Nonsense_Mutation_p.Q270*	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	270					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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	p.Q270*(1)|p.Q266*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCCCGGTACTGGTGCAGCAGG	0.512000													49	48					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34489896	34489896	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:34489896T>C	ENST00000241052.4	+	11	1477	c.1388T>C	c.(1387-1389)aTt>aCt	p.I463T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	463					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.I463T(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGTGAGAACATTGCCGGCCAC	0.488000													82	20					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137325794	137325794	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:137325794A>G	ENST00000367748.1	-	5	1081	c.495T>C	c.(493-495)taT>taC	p.Y165Y	IL20RA_ENST00000541547.1_Silent_p.Y227Y|IL20RA_ENST00000316649.5_Silent_p.Y276Y|IL20RA_ENST00000468393.1_5'UTR	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	276	Fibronectin type-III 2.					integral to membrane	receptor activity	p.Y276Y(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAACGTGGATATATCGGTAGA	0.413000													134	77					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141671502	141671502	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:141671502G>C	ENST00000499676.2	-	13	1685	c.1014C>G	c.(1012-1014)gcC>gcG	p.A338A	TFDP2_ENST00000495310.1_Silent_p.A301A|TFDP2_ENST00000397991.4_Silent_p.A370A|TFDP2_ENST00000479040.1_Silent_p.A337A|TFDP2_ENST00000467072.1_Silent_p.A338A|TFDP2_ENST00000317104.7_Silent_p.A322A|TFDP2_ENST00000489671.1_Silent_p.A398A|TFDP2_ENST00000477292.1_Silent_p.A262A|TFDP2_ENST00000486111.1_Silent_p.A338A|TFDP2_ENST00000310282.6_Silent_p.A338A	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	398					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	p.A398A(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGTTGCTAAGGCCACTTCTG	0.493000													32	42					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79655145	79655145	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:79655145C>G	ENST00000275034.4	-	39	4867	c.4700G>C	c.(4699-4701)aGt>aCt	p.S1567T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1567					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.S1567T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGTGCCATGACTAAAACTGGA	0.348000													16	39					0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43917920	43917920	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:43917920C>T	ENST00000372425.4	-	3	577	c.382G>A	c.(382-384)Gtt>Att	p.V128I	HYI_ENST00000372426.1_Missense_Mutation_p.V80I|HYI_ENST00000372434.1_Missense_Mutation_p.V153I|HYI_ENST00000372432.1_Missense_Mutation_p.V128I|HYI_ENST00000486909.1_Missense_Mutation_p.V128I|SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000583037.1_Missense_Mutation_p.V55I			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	128							hydroxypyruvate isomerase activity	p.V128I(1)|p.V55I(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAGAAAAACGGCCTCCATC	0.562000													3	19					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21627868	21627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:21627868C>T	ENST00000444129.2	-	11	1730	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	RECQL_ENST00000421138.2_Missense_Mutation_p.G421E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	421	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	p.G421E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GAATATATCTCCAAAGCCGTA	0.373000								Other identified genes with known or suspected DNA repair function					107	54					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764244	18764244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:18764244G>A	ENST00000304081.4	-	6	1011	c.911C>T	c.(910-912)gCt>gTt	p.A304V	NT5C1B_ENST00000600945.1_Missense_Mutation_p.A364V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A364V|NT5C1B_ENST00000359846.2_Missense_Mutation_p.A364V	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB									p.A364V(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACGGAGTCTAGCATTGACATA	0.473000													22	36					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245680	33245680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:33245680G>T	ENST00000451237.1	+	1	764	c.484G>T	c.(484-486)Gag>Tag	p.E162*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	162					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.E162*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GAACTGGGCTGAGAAACACTG	0.607000													25	77					4.26978e-12	4.71923e-12	1	1	0
EP300	2033	broad.mit.edu	37	22	41553195	41553195	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41553195G>T	ENST00000263253.7	+	18	4503	c.3284G>T	c.(3283-3285)aGc>aTc	p.S1095I		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1095	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.S1095I(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATTGTGAAGAGCCCCATGGAT	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	29					2.94398e-08	3.17587e-08	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32475710	32475710	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:32475710A>T	ENST00000404025.2	-	5	1711	c.1223T>A	c.(1222-1224)tTc>tAc	p.F408Y	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.F408Y|NLRC4_ENST00000360906.5_Missense_Mutation_p.F408Y			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	408	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.F408Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCAGTTCGAAATCAAACTT	0.473000													23	9					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65790284	65790284	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:65790284C>G	ENST00000341861.5	-	5	2261	c.681G>C	c.(679-681)tgG>tgC	p.W227C	DPP8_ENST00000300141.6_Missense_Mutation_p.W211C|DPP8_ENST00000321147.6_Missense_Mutation_p.W227C|DPP8_ENST00000321118.7_Missense_Mutation_p.W227C|DPP8_ENST00000559233.1_Missense_Mutation_p.W227C|DPP8_ENST00000339244.5_Missense_Mutation_p.W227C|DPP8_ENST00000358939.4_Missense_Mutation_p.W211C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	227					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.W211C(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGCAATCCAGTCTGGAT	0.403000													33	34					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160483635	160483635	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:160483635C>G	ENST00000356956.1	+	26	3802	c.3654C>G	c.(3652-3654)ccC>ccG	p.P1218P		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1218					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.P1218P(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGCCTGTCCCGTTGTCAGAG	0.463000													16	27					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23445959	23445959	+	Missense_Mutation	SNP	T	T	C	rs140030187		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23445959T>C	ENST00000307149.5	-	5	870	c.685A>G	c.(685-687)Aag>Gag	p.K229E		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	229					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.K229E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CTTCTTACCTTGTGACACTTG	0.433000											OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	33					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70539485	70539485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:70539485G>A	ENST00000260128.4	+	16	2608	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	SULF1_ENST00000419716.3_Missense_Mutation_p.E631K|SULF1_ENST00000458141.2_Missense_Mutation_p.E631K|SULF1_ENST00000402687.4_Missense_Mutation_p.E631K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	631					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.E631K(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGTGAGAGAGAACTGTACCA	0.388000													69	48					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613383	613383	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:613383C>G	ENST00000409413.3	+	2	368	c.89C>G	c.(88-90)cCc>cGc	p.P30R		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	30								p.P30R(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						ATCCCGCGGCCCTGGGGCAAA	0.622000													10	10					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903038	22903038	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:22903038G>A	ENST00000166244.3	+	3	560	c.488G>A	c.(487-489)cGt>cAt	p.R163H	EPHA8_ENST00000538803.1_Missense_Mutation_p.R163H|EPHA8_ENST00000374644.4_Missense_Mutation_p.R163H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	163						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R163H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTGTGCGGCGTCTCAAGCTC	0.622000													9	87					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56325021	56325021	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:56325021A>T	ENST00000370754.5	-	101	22897	c.22898T>A	c.(22897-22899)cTt>cAt	p.L7633H	DST_ENST00000370788.2_Missense_Mutation_p.L5258H|DST_ENST00000446842.2_Missense_Mutation_p.L7129H|DST_ENST00000370769.4_Missense_Mutation_p.L7455H|DST_ENST00000244364.6_Missense_Mutation_p.L5054H|DST_ENST00000361203.3_Missense_Mutation_p.L7344H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L5340H			Q03001	DYST_HUMAN	dystonin	7453					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	p.L7428H(1)|p.L5054H(1)		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)			ATATCCTGGAAGTCGAAGCTT	0.463000													19	25					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057170	72057170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:72057170G>A	ENST00000378743.3	-	1	579	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S74L|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S74L|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	74	Ser-rich.				RNA processing	intracellular	metal ion binding	p.S74L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACGATGACGAGGAAGAGCC	0.677000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	289					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					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)|p.0(2)|p.Q555*(2)		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						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								13	9					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90611334	90611334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:90611334C>A	ENST00000268154.4	+	2	1216	c.965C>A	c.(964-966)cCa>cAa	p.P322Q		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P322Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCATCAAGCCACACTCGTGC	0.637000													9	22					0.000978159	0.00101023	1	1	0
EIF3A	8661	broad.mit.edu	37	10	120817659	120817659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:120817659G>A	ENST00000369144.3	-	12	1913	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	EIF3A_ENST00000541549.1_Nonsense_Mutation_p.Q562*	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	596	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.Q596*(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCTTCCCTCTGTTCCAATTCT	0.512000													33	99					0	0	1	0	0
MRGBP	55257	broad.mit.edu	37	20	61428545	61428545	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:61428545T>G	ENST00000370487.3	+	2	303	c.232T>G	c.(232-234)Tgg>Ggg	p.W78G		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.W78G(1)									CAAGGTCATCTGGGACCATCT	0.622000													9	46					0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4236932	4236932	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:4236932G>A	ENST00000221847.5	+	5	590		c.e5-1			NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3						humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	p.?(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCTCTCAGGTGGGGCCCA	0.622000													3	65					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98925604	98925604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:98925604G>C	ENST00000556029.1	+	3	909	c.553G>C	c.(553-555)Gac>Cac	p.D185H	TMPO_ENST00000261210.5_Missense_Mutation_p.D185H|TMPO_ENST00000393053.2_Missense_Mutation_p.D185H|TMPO_ENST00000343315.5_Missense_Mutation_p.D185H|TMPO_ENST00000266732.4_Missense_Mutation_p.D185H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	185	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.D185H(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGATACAGTGACAATGAAGA	0.313000													29	35					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197535	65197535	+	Silent	SNP	G	G	T	rs144144480		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:65197535G>T	ENST00000247226.7	+	4	725	c.417G>T	c.(415-417)acG>acT	p.T139T	PLEKHG3_ENST00000394691.1_Silent_p.T195T	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	195	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.T139T(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCGCCCTGACGGAATGCATGC	0.642000													13	15					4.93089e-13	5.46912e-13	1	1	0
C6orf203	51250	broad.mit.edu	37	6	107365530	107365530	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:107365530C>A	ENST00000443043.1	+	4	1227	c.552C>A	c.(550-552)agC>agA	p.S184R	C6orf203_ENST00000311381.5_Missense_Mutation_p.S179R|C6orf203_ENST00000405204.2_Missense_Mutation_p.S179R	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	179								p.S179R(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GGAAGAAAAGCAGAACGGTGA	0.383000													19	723					1.01871e-10	1.10653e-10	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36941192	36941192	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:36941192C>T	ENST00000373103.1	-	4	694	c.147G>A	c.(145-147)aaG>aaA	p.K49K	CSF3R_ENST00000331941.5_Silent_p.K49K|CSF3R_ENST00000338937.5_Silent_p.K49K|CSF3R_ENST00000361632.4_Silent_p.K49K|CSF3R_ENST00000373104.1_Silent_p.K49K|CSF3R_ENST00000418048.2_Silent_p.K49K|CSF3R_ENST00000373106.1_Silent_p.K49K|CSF3R_ENST00000440588.2_Silent_p.K49K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	49	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.K49K(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCAGTTCTGCTTGATGATGC	0.622000													20	17					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91290711	91290711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:91290711C>T	ENST00000355112.3	+	2	207	c.89C>T	c.(88-90)cCa>cTa	p.P30L	BLM_ENST00000560509.1_Missense_Mutation_p.P30L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	30					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.P30L(3)|p.P30R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTTCAAAACCAAAATTTTCG	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				7	13					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23116802	23116802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23116802C>G	ENST00000219689.7	-	5	1048	c.1049G>C	c.(1048-1050)cGg>cCg	p.R350P		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	350					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R350P(1)|p.R350L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACTGCTTCCCGAAGTCTGGC	0.468000													27	51					0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48474335	48474335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:48474335C>T	ENST00000395694.2	-	4	804	c.719G>A	c.(718-720)gGg>gAg	p.G240E	CCDC51_ENST00000442740.1_Missense_Mutation_p.G131E|CCDC51_ENST00000395696.1_Missense_Mutation_p.G240E|CCDC51_ENST00000447018.1_Missense_Mutation_p.G131E|CCDC51_ENST00000412398.2_Missense_Mutation_p.G131E	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	240						integral to membrane		p.G240E(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTCACAGGCCCCTTCTGCGC	0.602000													39	42					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134018389	134018389	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:134018389C>T	ENST00000338492.4	+	14	1838	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	DPYSL4_ENST00000368629.1_Silent_p.I398I|DPYSL4_ENST00000368627.1_Silent_p.I398I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	558					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.I558I(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CACAGAAGATCATGGCACCAC	0.672000													31	139					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532668	84532668	+	RNA	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:84532668G>A	ENST00000527857.1	+	0	2690					NR_026851.1																						GGTGAGTGAGGACCACTGCGT	0.423000													18	25					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57193147	57193147	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:57193147G>T	ENST00000533524.1	-	4	561	c.220C>A	c.(220-222)Cca>Aca	p.P74T	SLC43A3_ENST00000395124.1_Intron|SLC43A3_ENST00000529554.1_Intron|SLC43A3_ENST00000352187.1_Intron|SLC43A3_ENST00000528098.1_Intron|SLC43A3_ENST00000395123.2_Intron			Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	61					transmembrane transport	integral to membrane		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TTGCAGTCTGGAGTAGAAAAA	0.532000													6	16					0.0293803	0.0298542	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101245	80101245	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:80101245G>T	ENST00000466387.1	+	10	1353	c.629G>T	c.(628-630)cGa>cTa	p.R210L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R244L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R210L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R210L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R210L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R210L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	210					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R210Q(2)|p.R210L(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGCCGCCCGAGGGGCTCTG	0.512000													8	39					0.000157383	0.000164158	1	1	0
OR56B4	196335	broad.mit.edu	37	11	6129404	6129404	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:6129404C>T	ENST00000316529.3	+	1	491	c.396C>T	c.(394-396)atC>atT	p.I132I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I132I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATAGCCATCTGTCGCCCTC	0.498000													69	25					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389046	160389046	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:160389046C>A	ENST00000368061.2	+	4	921	c.447C>A	c.(445-447)ttC>ttA	p.F149L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	149					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.F149L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGCCTCTTCATCTCTGTCG	0.662000													18	171					3.32936e-07	3.53114e-07	1	1	0
LPAR3	23566	broad.mit.edu	37	1	85331472	85331472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:85331472C>T	ENST00000440886.1	-	1	370	c.332G>A	c.(331-333)aGt>aAt	p.S111N	LPAR3_ENST00000370611.3_Missense_Mutation_p.S111N|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	111					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.S111N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGTCAAGCTACTGTCCAGAAG	0.498000													114	104					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100326379	100326379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:100326379G>C	ENST00000259365.4	+	6	760	c.547G>C	c.(547-549)Gta>Cta	p.V183L	TMOD1_ENST00000375175.1_Missense_Mutation_p.V56L|TMOD1_ENST00000395211.2_Missense_Mutation_p.V183L	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding	p.V183L(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTCAACAGACGTAGAGGAAAC	0.443000													17	22					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540651	94540651	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:94540651G>A	ENST00000289495.5	+	1	1442	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R409K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R409K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R409K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R409K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R409K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	409						cell junction|synapse|synaptosome	actin binding	p.R409K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGAGATCCAGGTATAATTCA	0.423000										HNSCC(28;0.073)			24	21					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70784470	70784470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:70784470C>T	ENST00000373719.3	+	19	2673	c.2456C>T	c.(2455-2457)aCt>aTt	p.T819I	OGT_ENST00000373701.3_Missense_Mutation_p.T809I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	819					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.T819I(1)|p.T809I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAGGCTGCAACTGGAGAGGAG	0.368000													15	14					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144320258	144320258	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:144320258C>T	ENST00000549981.1	-	7	605		c.e7+1		TPK1_ENST00000547966.1_Splice_Site|TPK1_ENST00000538212.2_Splice_Site|TPK1_ENST00000378099.3_Splice_Site|TPK1_ENST00000360057.3_Splice_Site			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.?(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GTATATATTACCTTTAAGTCT	0.328000													62	64					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171700564	171700564	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:171700564T>A	ENST00000358196.3	+	7	1198	c.648T>A	c.(646-648)taT>taA	p.Y216*	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	216					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Y216*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTTTACATATGAAATTGCAC	0.353000													14	33					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758093	111758093	+	Silent	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:111758093G>T	ENST00000261726.6	+	17	2434	c.2280G>T	c.(2278-2280)ccG>ccT	p.P760P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	760						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P760P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGCCGCTCCCGGTCCTGTCCC	0.736000													11	16					1.58986e-06	1.67494e-06	1	1	0
LRCH4	4034	broad.mit.edu	37	7	100172746	100172746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:100172746C>G	ENST00000310300.6	-	18	2088	c.2036G>C	c.(2035-2037)cGg>cCg	p.R679P	LRCH4_ENST00000497245.1_Missense_Mutation_p.R227P	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	679					nervous system development	PML body	protein binding	p.R679P(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCAGGAGCCGAGTGTAGGT	0.637000													3	14					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117570	194117570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:194117570C>T	ENST00000401815.1	-	1	1513	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	GP5_ENST00000323007.3_Missense_Mutation_p.R481H			P40197	GPV_HUMAN	glycoprotein V (platelet)	481					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.R481H(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCAgcggggcggggaggcgg	0.776000													32	36					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192613	128192613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:128192613C>T	ENST00000284694.7	-	3	1276	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R	C10orf90_ENST00000544758.1_Missense_Mutation_p.G483R|C10orf90_ENST00000454341.1_Missense_Mutation_p.G386R|C10orf90_ENST00000356858.3_Missense_Mutation_p.G339R|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.G339R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	386								p.G386R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCCTTTTCCCCTTTTCTTACA	0.502000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	14					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961220	19961220	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:19961220C>T	ENST00000263207.3	-	13	2476	c.2185G>A	c.(2185-2187)Gtc>Atc	p.V729I	ARVCF_ENST00000406522.1_Missense_Mutation_p.V660I|ARVCF_ENST00000344269.3_Missense_Mutation_p.V666I|ARVCF_ENST00000406259.1_Missense_Mutation_p.V723I|ARVCF_ENST00000401994.1_Missense_Mutation_p.V666I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	729					cell adhesion|multicellular organismal development		protein binding	p.V729I(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGATGGCGACGGCGCGCACC	0.662000													20	150					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51561002	51561002	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr14:51561002C>T	ENST00000298355.3	-	1	1777	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TRIM9_ENST00000360392.4_Missense_Mutation_p.R219Q|TRIM9_ENST00000338969.5_Missense_Mutation_p.R219Q	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	219					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.R219Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTCAGCCTCCGGCTCACACG	0.672000													8	22					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160801216	160801216	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:160801216A>G	ENST00000368034.4	-	9	1196	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	CD244_ENST00000368033.3_Splice_Site_p.I345T|CD244_ENST00000322302.7_Splice_Site_p.I248T	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	345					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.I340T(1)|p.I345T(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTTTCCAATCTGCAAAAG	0.443000													27	306					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783848	11783848	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chrX:11783848A>G	ENST00000337339.2	+	9	1198	c.1171A>G	c.(1171-1173)Agt>Ggt	p.S391G	MSL3_ENST00000312196.4_Splice_Site_p.K391E|MSL3_ENST00000398527.2_Splice_Site_p.K379E|MSL3_ENST00000380693.3_Splice_Site_p.K225E|MSL3_ENST00000361672.2_Splice_Site_p.K242E|MSL3_ENST00000467141.1_3'UTR	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	0					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	p.K391E(1)|p.S391G(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCTGGAAAAGAGTAGGTTCAT	0.582000													39	39					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47888256	47888256	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr20:47888256A>G	ENST00000396105.1	-	3	339	c.93T>C	c.(91-93)gcT>gcC	p.A31A	ZNFX1_ENST00000371754.4_Silent_p.A31A|ZNFX1_ENST00000371752.1_Silent_p.A31A	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	31							metal ion binding	p.A31A(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTGATTTCTAGCTCTTGGTG	0.507000													29	37					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133884160	133884160	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:133884160G>A	ENST00000285928.2	+	14	1803	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	578	Guanylate kinase-like.						ATP binding|kinase activity	p.E578E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATTTTGATGAGGTAATCAATG	0.318000													24	87					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53677876	53677876	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:53677876G>A	ENST00000257934.4	+	17	3203	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E1038K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1038					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.E1038K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGGCGAGCTGGAGCTGGCCCG	0.532000													79	173					0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17394774	17394774	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr17:17394774A>T	ENST00000268711.3	+	2	462	c.406A>T	c.(406-408)Aag>Tag	p.K136*		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	136					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	p.K136*(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAAAAGTACAAGAGCCTCTG	0.567000													22	66					0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504170	55504170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:55504170C>G	ENST00000474267.1	-	6	1614	c.1093G>C	c.(1093-1095)Gtc>Ctc	p.V365L	WNT5A_ENST00000497027.1_Missense_Mutation_p.V350L|WNT5A_ENST00000264634.4_Missense_Mutation_p.V365L			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	365					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V458L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592000													22	30					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52164425	52164425	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:52164425G>C	ENST00000354534.6	+	19	3781	c.3603G>C	c.(3601-3603)gaG>gaC	p.E1201D	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1201D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.E1201D(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACTGGTTTGAGACCTTCATCA	0.557000													10	133					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271624	164271624	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:164271624A>G	ENST00000515560.1	+	4	1721	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	NPY5R_ENST00000338566.3_Missense_Mutation_p.M67V|NPY5R_ENST00000506953.1_Missense_Mutation_p.M67V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	67					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.M67V(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AATGGCTCTCATGAAAAAGCG	0.383000													56	129					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50829280	50829280	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:50829280G>T	ENST00000398473.2	+	5	520	c.408G>T	c.(406-408)ttG>ttT	p.L136F	LARP4_ENST00000518444.1_Missense_Mutation_p.L135F|LARP4_ENST00000293618.8_Missense_Mutation_p.L136F|LARP4_ENST00000347328.5_Missense_Mutation_p.L136F|LARP4_ENST00000429001.3_Missense_Mutation_p.L142F|LARP4_ENST00000518561.1_Missense_Mutation_p.L66F|LARP4_ENST00000522085.1_Missense_Mutation_p.L136F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	136	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.L136F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAGAAAATTTGTCAAAGGATC	0.313000													25	111					1.42536e-11	1.56442e-11	1	1	0
TSTD2	158427	broad.mit.edu	37	9	100367863	100367863	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr9:100367863C>T	ENST00000341170.4	-	8	1397	c.1015G>A	c.(1015-1017)Gtt>Att	p.V339I	TSTD2_ENST00000354801.2_Missense_Mutation_p.V79I	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	339	Rhodanese.							p.V339I(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TTTTTGTCAACGTAGCTAGGG	0.463000													36	77					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49309824	49309824	+	Splice_Site	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:49309824T>A	ENST00000559471.1	-	9	1435	c.1172A>T	c.(1171-1173)gAt>gTt	p.D391V	SECISBP2L_ENST00000261847.3_Splice_Site_p.D346V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	391								p.D346V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCCATCTTCATCCTGAAATGT	0.284000													5	18					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176707662	176707662	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:176707662A>G	ENST00000439151.2	+	18	5764	c.5719A>G	c.(5719-5721)Ata>Gta	p.I1907V	NSD1_ENST00000347982.4_Missense_Mutation_p.I1638V|NSD1_ENST00000361032.4_Missense_Mutation_p.I1804V|NSD1_ENST00000354179.4_Missense_Mutation_p.I1638V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1907	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.I1907V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCCTGTGGGATAGACTCTGA	0.522000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			35	37					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700964	23700964	+	Silent	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:23700964C>T	ENST00000300093.4	+	9	1686	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	525	POLO box 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	p.L525L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCACCTCAGCAACGGCA	0.652000													13	13					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159842832	159842832	+	Silent	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:159842832C>G	ENST00000426543.2	-	11	1679	c.1224G>C	c.(1222-1224)cgG>cgC	p.R408R	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.R493R			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	493						mitochondrion|soluble fraction		p.R493R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGGTGGCAATCCGGTTCTGCA	0.592000													56	184					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41928097	41928097	+	Splice_Site	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr22:41928097C>A	ENST00000355209.4	-	4	703		c.e4+1		POLR3H_ENST00000407461.1_Splice_Site|POLR3H_ENST00000337566.5_Splice_Site|POLR3H_ENST00000396504.2_Splice_Site	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)						innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.?(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TTGGAGGATACAACTTGGCTG	0.557000													22	28					1.04121e-07	1.11939e-07	1	1	0
ZFPM1	161882	broad.mit.edu	37	16	88555534	88555534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:88555534G>A	ENST00000319555.3	+	3	563	c.241G>A	c.(241-243)Gag>Aag	p.E81K	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	81					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	p.E81K(1)		central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACGGAGGAAGAGCCGGGCAG	0.711000													3	7					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138654644	138654644	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:138654644T>C	ENST00000394800.2	+	12	1905	c.1356T>C	c.(1354-1356)gaT>gaC	p.D452D	MATR3_ENST00000502929.1_Silent_p.D452D|MATR3_ENST00000503811.1_Silent_p.D164D|MATR3_ENST00000509990.1_Silent_p.D452D|MATR3_ENST00000502499.1_Silent_p.D114D|MATR3_ENST00000504203.1_Silent_p.D114D|MATR3_ENST00000394805.3_Silent_p.D452D|MATR3_ENST00000510056.1_Silent_p.D452D|MATR3_ENST00000361059.2_Silent_p.D452D			P43243	MATR3_HUMAN	matrin 3	452	RRM 1.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.D452D(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGCAGTGGATTATTACACAA	0.363000													15	36					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31831441	31831441	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:31831441T>A	ENST00000544672.1	-	21	2164	c.1868A>T	c.(1867-1869)aAc>aTc	p.N623I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.N657I|SLC44A4_ENST00000229729.6_Missense_Mutation_p.N699I	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	699						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.N699I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGGCGCCTCGTTCTTCTTGCC	0.597000													15	22					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7817004	7817004	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:7817004T>C	ENST00000338316.4	+	23	2998	c.2909T>C	c.(2908-2910)aTt>aCt	p.I970T	ADCY2_ENST00000537121.1_Missense_Mutation_p.I790T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	970					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.I970T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TACATGCACATTGGCACCATG	0.517000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	57					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650459	94650459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:94650459G>T	ENST00000260526.6	-	18	2260	c.2078C>A	c.(2077-2079)tCa>tAa	p.S693*	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	693	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.S693*(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCAATCTCTGAGGCACATAT	0.333000													18	71					1.45105e-14	1.62662e-14	1	1	0
C1orf86	199990	broad.mit.edu	37	1	2125504	2125504	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:2125504A>T	ENST00000378545.3	-	3	439	c.440T>A	c.(439-441)cTg>cAg	p.L147Q	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378546.4_Missense_Mutation_p.L44Q|C1orf86_ENST00000400919.3_5'UTR	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	44								p.L44Q(1)		central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CACCGTGCGCAGTAGCTCGGC	0.672000													5	27					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704303	52704303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:52704303C>G	ENST00000287727.3	+	4	1386	c.1214C>G	c.(1213-1215)aCt>aGt	p.T405S	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.T405S|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T405S			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	405					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.T405S(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGAAGTTGACTAAACTAAAT	0.373000													34	85					0	0	1	0	0
NMU	10874	broad.mit.edu	37	4	56471508	56471508	+	Silent	SNP	A	A	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:56471508A>C	ENST00000264218.3	-	7	474	c.369T>G	c.(367-369)gtT>gtG	p.V123V	NMU_ENST00000515325.1_5'UTR|NMU_ENST00000511469.1_Silent_p.V107V|NMU_ENST00000505262.1_Silent_p.V96V|NMU_ENST00000507338.1_Intron	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	123					neuropeptide signaling pathway	extracellular region		p.V123V(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		ACGGATGCACAACTGACGACT	0.463000													29	27					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123046525	123046525	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:123046525G>A	ENST00000462833.1	-	7	3099	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	ADCY5_ENST00000491190.1_Silent_p.N262N|ADCY5_ENST00000309879.5_Silent_p.N279N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	629					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.N629N(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAGGTAGGCGTTGCGCTCGC	0.642000													8	33					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102495964	102495964	+	Silent	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:102495964G>C	ENST00000260228.2	-	1	99	c.87C>G	c.(85-87)gcC>gcG	p.A29A	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	29					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.A29A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCTGGGGGAGGCTGCAACTA	0.537000													47	20					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10166548	10166548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:10166548C>T	ENST00000343090.6	+	7	1178	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	UBE4B_ENST00000253251.8_Intron|UBE4B_ENST00000377157.3_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	368					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.S368F(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCAGCAGTTCCAGACAGAGG	0.652000													10	43					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27112231	27112231	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr10:27112231T>C	ENST00000355394.4	-	2	344	c.121A>G	c.(121-123)Aca>Gca	p.T41A	ABI1_ENST00000376166.1_Missense_Mutation_p.T41A|ABI1_ENST00000490841.2_Missense_Mutation_p.T41A|ABI1_ENST00000376138.3_Missense_Mutation_p.T41A|ABI1_ENST00000376170.4_Missense_Mutation_p.T41A|ABI1_ENST00000376134.3_Missense_Mutation_p.T41A|ABI1_ENST00000376160.1_Missense_Mutation_p.T41A|ABI1_ENST00000376139.2_Missense_Mutation_p.T41A|ABI1_ENST00000376140.3_Missense_Mutation_p.T41A|ABI1_ENST00000346832.5_Missense_Mutation_p.T58A|ABI1_ENST00000536334.1_Missense_Mutation_p.T41A|ABI1_ENST00000376137.4_Missense_Mutation_p.T41A|ABI1_ENST00000359188.4_Missense_Mutation_p.T41A|ABI1_ENST00000376142.2_Missense_Mutation_p.T41A			Q8IZP0	ABI1_HUMAN	abl-interactor 1	41	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	p.T41A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTTGTCTGTAGCCTGAAAT	0.303000													18	47					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17115836	17115836	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:17115836T>C	ENST00000265970.7	-	27	4422	c.4423A>G	c.(4423-4425)Att>Gtt	p.I1475V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.I1095V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1475	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.I1475V(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GGAAAAATAATACTGAGCTTA	0.348000													22	9					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929204	49929204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:49929204G>C	ENST00000296474.3	-	15	3366	c.3339C>G	c.(3337-3339)atC>atG	p.I1113M	MST1R_ENST00000344206.4_Missense_Mutation_p.I1064M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1113	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.I1113M(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTAGTGACTTGATGGCACATT	0.517000													84	79					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45296430	45296430	+	Silent	SNP	G	G	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:45296430G>T	ENST00000352853.5	+	2	171	c.171G>T	c.(169-171)ggG>ggT	p.G57G	SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000541979.1_Silent_p.G57G|RUNX2_ENST00000483243.1_3'UTR|RUNX2_ENST00000465038.2_5'UTR|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371438.1_5'UTR			Q13950	RUNX2_HUMAN	runt-related transcription factor 2	0	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACAACAGAGGGTACAAGTTCT	0.388000													19	23					3.32936e-07	3.53114e-07	1	1	0
SETD2	29072	broad.mit.edu	37	3	47125299	47125299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:47125299C>A	ENST00000409792.3	-	12	6013	c.5971G>T	c.(5971-5973)Gag>Tag	p.E1991*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.E1488*(1)|p.E1991*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTCACTCTCCACATCAGAC	0.448000			"""N, F, S, Mis"""		clear cell renal carcinoma								70	80					4.09166e-32	4.61962e-32	1	1	0
KCTD16	57528	broad.mit.edu	37	5	143586786	143586786	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:143586786A>G	ENST00000507359.3	+	2	1600	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	KCTD16_ENST00000512467.1_Missense_Mutation_p.Y170C	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Y170C(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACTGTGGGTTACAGAGGATCC	0.537000													36	28					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071562	134071562	+	Silent	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:134071562C>A	ENST00000264360.5	+	1	1093	c.267C>A	c.(265-267)ccC>ccA	p.P89P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P89P(1)		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)		AACAGAGCCCCTCCTGTGTCC	0.547000													25	42					5.35047e-06	5.61799e-06	1	1	0
CNGB1	1258	broad.mit.edu	37	16	57935276	57935276	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:57935276T>A	ENST00000564448.1	-	29	2998	c.2938A>T	c.(2938-2940)Aac>Tac	p.N980Y	CNGB1_ENST00000251102.8_Missense_Mutation_p.N986Y			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	986					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.N986Y(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACATAGTCGTTGGGCAGGTAG	0.567000													29	68					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144127185	144127185	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr4:144127185G>A	ENST00000307017.4	+	6	1715		c.e6-1		USP38_ENST00000510377.1_Splice_Site	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.?(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATGACCTATAGGATTTTCCTA	0.308000													20	29					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19818562	19818562	+	Silent	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:19818562G>A	ENST00000311322.8	+	8	1760	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	430	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.K430K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCATTCAGAAGATCAGAGTAA	0.428000													21	16					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650526	146650526	+	RNA	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:146650526C>A	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA																							GTTCCAACTACTGGAGAAACA	0.408000													41	29					2.59497e-14	2.89864e-14	1	1	0
IMPA2	3613	broad.mit.edu	37	18	11999053	11999053	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:11999053A>G	ENST00000269159.3	+	2	339	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	IMPA2_ENST00000588927.1_Intron|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	33					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	p.I33V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTATTTCAGATCATCAGAAA	0.423000													56	17					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33663289	33663289	+	Silent	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:33663289T>C	ENST00000361680.2	+	10	1263	c.1185T>C	c.(1183-1185)atT>atC	p.I395I	WDR88_ENST00000355868.3_Silent_p.I395I			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	395								p.I395I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTGAAGAAATTGATGAAATTC	0.398000													74	35					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83349915	83349915	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr15:83349915C>A	ENST00000261722.3	-	6	744	c.537G>T	c.(535-537)caG>caT	p.Q179H	AP3B2_ENST00000535359.1_Missense_Mutation_p.Q179H|AP3B2_ENST00000535348.1_Missense_Mutation_p.Q147H|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	179					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.Q179H(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTGATCCTTCTGGTCAGAGT	0.577000													6	8					0.248553	0.249344	1	1	0
NR2C2	7182	broad.mit.edu	37	3	15062406	15062406	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:15062406A>G	ENST00000425241.1	+	5	885	c.523A>G	c.(523-525)Aaa>Gaa	p.K175E	NR2C2_ENST00000406272.2_Missense_Mutation_p.K175E|NR2C2_ENST00000323373.6_Missense_Mutation_p.K194E|NR2C2_ENST00000393102.3_Missense_Mutation_p.K175E			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	175					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.K194E(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGCCGGCTGAAAAAATGCTT	0.408000													14	44					0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950297	49950297	+	Missense_Mutation	SNP	A	A	G	rs17844886		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr19:49950297A>G	ENST00000262265.5	-	7	906	c.671T>C	c.(670-672)gTt>gCt	p.V224A	PIH1D1_ENST00000596049.1_Missense_Mutation_p.V224A|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	224			V -> I (in dbSNP:rs13394).		box C/D snoRNP assembly	pre-snoRNP complex		p.V224A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGGGAGGTCAACTTCGGCCAA	0.592000													102	47					0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046556	151046556	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:151046556A>G	ENST00000325602.5	-	2	307	c.288T>C	c.(286-288)ctT>ctC	p.L96L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	96						integral to membrane|plasma membrane		p.L75L(1)|p.L96L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTTTGAAAGGAAGCATGAGTG	0.468000													34	55					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74685992	74685992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:74685992G>A	ENST00000361070.4	-	3	644	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.Q183*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	183					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q183*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCTCACCTGAAAGTAAGCA	0.413000													13	35					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318937	31318937	+	Silent	SNP	A	A	G			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr18:31318937A>G	ENST00000269197.5	+	11	1569	c.1569A>G	c.(1567-1569)tcA>tcG	p.S523S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S230S(1)|p.S523S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGGAAGTCAGAATCACCCC	0.393000													11	10					0	0	1	0	0
IGIP	492311	broad.mit.edu	37	5	139508200	139508200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:139508200G>A	ENST00000333305.3	+	1	2680	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	47						extracellular region		p.E47K(1)									CAGCCGGCTTGAGTTTGTTCA	0.393000													21	67					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16477395	16477395	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:16477395T>C	ENST00000358432.5	-	2	303	c.149A>G	c.(148-150)aAa>aGa	p.K50R	EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	50					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.K50R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACATACCCCTTTGCCATACGG	0.627000													17	130					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31102541	31102541	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:31102541T>C	ENST00000394975.2	-	3	633	c.406A>G	c.(406-408)Atc>Gtc	p.I136V	VKORC1_ENST00000354895.4_3'UTR|VKORC1_ENST00000498155.1_3'UTR|VKORC1_ENST00000319788.7_3'UTR|VKORC1_ENST00000300851.6_3'UTR|VKORC1_ENST00000394971.3_3'UTR|RP11-196G11.1_ENST00000529564.1_Intron	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	136					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	p.I136V(1)		lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TAGGTGGTGATACAAACAATG	0.537000													12	69					0	0	1	0	0
RP1-125I3.2	0	broad.mit.edu	37	1	26186959	26186960	+	RNA	INS	-	-	T			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:26186959_26186960insT	ENST00000455431.1	+	0	263																											AAATTTTGTAATTTTTTTTTTT	0.554													3	4	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237972206	237972209	+	Frame_Shift_Del	DEL	ATTA	ATTA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr1:237972206_237972209delATTA	ENST00000366574.2	+	100	14621_14624	c.14304_14307delATTA	c.(14302-14307)gtattafs	p.VL4768fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.VL4774fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.VL4752fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4768					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)			TCCAGCTCGTATTAACCGTTGGCT	0.407													46	306	---	---	---	---					
RBM44	375316	broad.mit.edu	37	2	238726935	238726943	+	In_Frame_Del	DEL	CAAGTTGTA	CAAGTTGTA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr2:238726935_238726943delCAAGTTGTA	ENST00000316997.4	+	3	1508_1516	c.1376_1384delCAAGTTGTA	c.(1375-1386)gcaagttgtaca>gca	p.SCT460del	RBM44_ENST00000409864.1_In_Frame_Del_p.SCT460del|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	459							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAGATGCAGCAAGTTGTACAGTCACAAT	0.397													24	65	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	8	---	---	---	---					
HK3	3101	broad.mit.edu	37	5	176308405	176308406	+	Frame_Shift_Ins	INS	-	-	C	rs145283059		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr5:176308405_176308406insC	ENST00000292432.5	-	18	2615_2616	c.2524_2525insG	c.(2524-2526)gcgfs	p.A842fs		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	842	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTACACCCGCCCCACAGAGC	0.639													24	29	---	---	---	---					
SGK1	6446	broad.mit.edu	37	6	134493873	134493887	+	In_Frame_Del	DEL	GTTCCAGGAAGCAGC	GTTCCAGGAAGCAGC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr6:134493873_134493887delGTTCCAGGAAGCAGC	ENST00000367858.5	-	9	1457_1471	c.860_874delGCTGCTTCCTGGAAC	c.(859-876)cgctgcttcctggaacca>cca	p.RCFLE287del	SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000413996.3_In_Frame_Del_p.RCFLE206del|SGK1_ENST00000475719.2_In_Frame_Del_p.RCFLE148del|SGK1_ENST00000528577.1_In_Frame_Del_p.RCFLE220del|SGK1_ENST00000237305.7_In_Frame_Del_p.RCFLE192del|SGK1_ENST00000367857.5_In_Frame_Del_p.RCFLE182del	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	192	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.C193Y(1)|p.C288Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGAGCCCGTGGTTCCAGGAAGCAGCGTTCCCTCTG	0.460													13	28	---	---	---	---					
CDK13	8621	broad.mit.edu	37	7	40027759	40027772	+	Frame_Shift_Del	DEL	AGGAGCCAAGGAGA	AGGAGCCAAGGAGA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr7:40027759_40027772delAGGAGCCAAGGAGA	ENST00000181839.4	+	2	2378_2391	c.1773_1786delAGGAGCCAAGGAGA	c.(1771-1788)ataggagccaaggagaagfs	p.GAKEK592fs	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Frame_Shift_Del_p.GAKEK592fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	592					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACCAAGCATAGGAGCCAAGGAGAAGGAGCAACA	0.430													12	40	---	---	---	---					
AC022182.1	0	broad.mit.edu	37	8	61850546	61850552	+	RNA	DEL	GCAATCA	GCAATCA	-	rs146762178	by1000genomes	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:61850546_61850552delGCAATCA	ENST00000527672.1	+	0	323																											CTTTCTACTGGCAATCAGGAGACTGAA	0.478													30	27	---	---	---	---					
NBN	4683	broad.mit.edu	37	8	90955588	90955607	+	Splice_Site	DEL	ATGTGACCTATTGAATAATA	ATGTGACCTATTGAATAATA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr8:90955588_90955607delATGTGACCTATTGAATAATA	ENST00000265433.3	-	14	2225_2231	c.2071_2077delTATTATTCAATAGGTCACAT	c.(2071-2079)tattattca>ca	p.YYS691fs	NBN_ENST00000409330.1_Splice_Site_p.YYS609fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	691					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCTCCAGGATATGTGACCTATTGAATAATAAAAGTAGTAC	0.336								Homologous recombination					45	94	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61544788	61544806	+	Frame_Shift_Del	DEL	CACAGGTGCCCGACACCGT	CACAGGTGCCCGACACCGT	-	rs75764154	byFrequency	TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:61544788_61544806delCACAGGTGCCCGACACCGT	ENST00000278836.5	+	12	1739_1757	c.1643_1661delCACAGGTGCCCGACACCGT	c.(1642-1662)gcacaggtgcccgacaccgtcfs	p.AQVPDTV548fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Frame_Shift_Del_p.AQVPDTV173fs|MYRF_ENST00000265460.5_Frame_Shift_Del_p.AQVPDTV539fs	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TGGCAGCGGGCACAGGTGCCCGACACCGTCTTCCACCAC	0.653													8	13	---	---	---	---					
AP000797.3	0	broad.mit.edu	37	11	115597853	115597854	+	RNA	INS	-	-	A			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr11:115597853_115597854insA	ENST00000539305.1	+	0	163																											gggaaggaaggagggaaggaag	0.520													4	5	---	---	---	---					
AVIL	10677	broad.mit.edu	37	12	58197160	58197179	+	Splice_Site	DEL	ATTTCCTGCTGAAGTCTGCA	ATTTCCTGCTGAAGTCTGCA	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:58197160_58197179delATTTCCTGCTGAAGTCTGCA	ENST00000537081.1	-	15	1796_1810	c.1797_1811delTGCAGACTTCAGCAGGAAAT	c.(1795-1812)agtgcagacttcagcagg>agg	p.SADFS599fs	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Splice_Site_p.SADFS606fs|AVIL_ENST00000550083.1_5'UTR			O75366	AVIL_HUMAN	advillin	606	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCTAGGATTTCCTGCTGAAGTCTGCAATATAGTCCA	0.459											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	59	---	---	---	---					
NUP107	57122	broad.mit.edu	37	12	69120293	69120305	+	Frame_Shift_Del	DEL	TTTAGCAAATGGC	TTTAGCAAATGGC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:69120293_69120305delTTTAGCAAATGGC	ENST00000229179.4	+	19	1923_1935	c.1591_1603delTTTAGCAAATGGC	c.(1591-1605)tttagcaaatggcttfs	p.FSKWL531fs	NUP107_ENST00000378905.2_Frame_Shift_Del_p.FSKWL380fs|NUP107_ENST00000539906.1_Frame_Shift_Del_p.FSKWL502fs	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	531					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GATGGATGAGTTTAGCAAATGGCTTTCCAAAAG	0.352													25	277	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.490													2	4	---	---	---	---					
TBX5	6910	broad.mit.edu	37	12	114836462	114836462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr12:114836462delG	ENST00000310346.4	-	5	1092	c.426delC	c.(424-426)cccfs	p.P142fs	TBX5_ENST00000405440.2_Frame_Shift_Del_p.P142fs|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Frame_Shift_Del_p.P92fs|TBX5_ENST00000526441.1_Frame_Shift_Del_p.P142fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	142					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCCCGGTGGCGGGGGAGTCTG	0.612													18	22	---	---	---	---					
ZNF768	79724	broad.mit.edu	37	16	30537683	30537692	+	Frame_Shift_Del	DEL	AACTCTGCAC	AACTCTGCAC	-	rs145753318		TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:30537683_30537692delAACTCTGCAC	ENST00000380412.5	-	1	218_227	c.43_52delGTGCAGAGTT	c.(43-54)gtgcagagttctfs	p.VQSS15fs	ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	15					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATTTCGTCAGAACTCTGCACATCCTGGGGC	0.714													7	28	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69725894	69725908	+	In_Frame_Del	DEL	ATTGCAGCAGGCTAC	ATTGCAGCAGGCTAC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:69725894_69725908delATTGCAGCAGGCTAC	ENST00000349945.1	+	14	3436_3450	c.1884_1898delATTGCAGCAGGCTAC	c.(1882-1899)ctattgcagcaggctaca>cta	p.LQQAT629del	NFAT5_ENST00000567239.1_In_Frame_Del_p.LQQAT722del|NFAT5_ENST00000393742.2_In_Frame_Del_p.LQQAT629del|NFAT5_ENST00000354436.2_In_Frame_Del_p.LQQAT705del|NFAT5_ENST00000432919.1_In_Frame_Del_p.LQQAT723del|NFAT5_ENST00000566899.1_In_Frame_Del_p.LQQAT629del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	705					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGATGCACTATTGCAGCAGGCTACACAGTTTCAG	0.465													13	65	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81232612	81232624	+	RNA	DEL	GGGTGGTGGACTC	GGGTGGTGGACTC	-			TCGA-DK-A1A7-01A-11D-A13W-08	TCGA-DK-A1A7-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91f458e6-64b7-454d-a542-b0aa23638fd8	c14e29aa-a979-4452-8019-7eebfb3d5d04	g.chr16:81232612_81232624delGGGTGGTGGACTC	ENST00000337114.4	-	0	1185_1197				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						GAGCCCTTTTGGGTGGTGGACTCGGCCAGGGTT	0.516													15	84	---	---	---	---