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
PARP8	79668	broad.mit.edu	37	5	50120762	50120762	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:50120762G>T	ENST00000281631.5	+	18	2039	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N	PARP8_ENST00000514067.2_Missense_Mutation_p.K585N|PARP8_ENST00000514342.2_Missense_Mutation_p.K338N|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.K606N|PARP8_ENST00000505697.2_Missense_Mutation_p.K627N|PARP8_ENST00000503750.2_Missense_Mutation_p.K585N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	627	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGGAAATCAAGAAGCAAATGG	0.338000													39	43					4.44401e-20	4.86918e-20	1	1	0
EPC2	26122	broad.mit.edu	37	2	149501316	149501316	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:149501316G>C	ENST00000258484.6	+	3	473	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	147					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TGACAGACTTGAAAAAGCCAG	0.323000													7	22					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62931408	62931408	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:62931408G>A	ENST00000393630.3	+	16	2431	c.2040G>A	c.(2038-2040)atG>atA	p.M680I	MON2_ENST00000546600.1_Missense_Mutation_p.M680I|MON2_ENST00000393629.2_Missense_Mutation_p.M680I|MON2_ENST00000552738.1_Missense_Mutation_p.M657I|MON2_ENST00000280379.6_Missense_Mutation_p.M680I|MON2_ENST00000552115.1_Missense_Mutation_p.M680I|MON2_ENST00000393632.2_Missense_Mutation_p.M680I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	680					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCCAGTGTATGAGGACTTTAC	0.338000													18	59					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083227	7083227	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:7083227G>C	ENST00000414706.1	+	8	1238	c.765G>C	c.(763-765)ttG>ttC	p.L255F	ZNF557_ENST00000252840.6_Missense_Mutation_p.L255F|ZNF557_ENST00000439035.2_Missense_Mutation_p.L248F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GACCGCACTTGAGAATTCACA	0.458000													23	44					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79588083	79588083	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:79588083C>G	ENST00000263849.4	+	2	180	c.78C>G	c.(76-78)ttC>ttG	p.F26L	ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	26																	GAAGAACATTCTTTCCAGTAG	0.318000													12	94					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29191670	29191670	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:29191670G>A	ENST00000216037.6	-	5	722	c.650C>T	c.(649-651)tCa>tTa	p.S217L	XBP1_ENST00000405219.3_Missense_Mutation_p.S167L|XBP1_ENST00000403532.3_Missense_Mutation_p.S222L|XBP1_ENST00000344347.5_Silent_p.F208F	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	217					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AAGGGCATTTGAAGAACATGA	0.498000													14	53					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3746519	3746519	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:3746519C>T	ENST00000378230.3	-	14	2203	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	627						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ACCGCCGTCTCGCGGACCTCA	0.473000													14	52					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40776811	40776811	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:40776811G>A	ENST00000372748.3	-	12	680	c.584C>T	c.(583-585)gCg>gTg	p.A195V		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	195	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCGTTTGCCCGCATGCCCCTG	0.617000													3	40					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584444	7584444	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:7584444C>T	ENST00000597229.1	+	2	486	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	ZNF358_ENST00000394341.2_Missense_Mutation_p.L106F	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	106					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ACCCCTGATTCTCGATCCTAA	0.642000													28	88					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249270	20249270	+	Silent	SNP	A	A	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:20249270A>G	ENST00000315957.4	+	1	870	c.789A>G	c.(787-789)ccA>ccG	p.P263P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGCTCGCCCATTTGACTCAT	0.408000													27	34					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744695	36744695	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:36744695C>T	ENST00000379881.3	-	10	1318	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.Q487Q|SOHLH2_ENST00000554962.1_Silent_p.Q487Q	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TAGTGCACGTCTGGCCCAACC	0.512000													12	31					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004405	44004405	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:44004405C>G	ENST00000262726.7	-	22	2891	c.2638G>C	c.(2638-2640)Gat>Cat	p.D880H	EFCAB6_ENST00000396231.2_Missense_Mutation_p.D728H	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	880	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGGGAATATCAAAACCGTAC	0.448000													13	26					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518001	113518001	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:113518001G>A	ENST00000284601.3	-	4	3214	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1049					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTAGAAGCAGAGCTGTCAGA	0.373000													19	89					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58443483	58443483	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:58443483G>C	ENST00000357552.3	-	38	4198	c.3973C>G	c.(3973-3975)Cat>Gat	p.H1325D	SYCP2_ENST00000371001.2_Missense_Mutation_p.H1325D			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1325					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGGATATGATGATCTGCATCT	0.333000													27	58					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234534179	234534179	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:234534179G>C	ENST00000040877.1	-	26	4191	c.4192C>G	c.(4192-4194)Caa>Gaa	p.Q1398E	TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1398					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGTTGAGTTTGAGAAAGGTAC	0.368000													13	28					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828100	6828100	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:6828100G>C	ENST00000304076.2	+	10	1035	c.941G>C	c.(940-942)aGa>aCa	p.R314T	VAV1_ENST00000602142.1_Missense_Mutation_p.R314T|VAV1_ENST00000596764.1_Missense_Mutation_p.R282T|VAV1_ENST00000539284.1_Missense_Mutation_p.R217T|VAV1_ENST00000599806.1_Missense_Mutation_p.R259T	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	314	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGTTCTCAGAGAGCCAACAAC	0.517000													16	34					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88293301	88293301	+	Translation_Start_Site	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:88293301G>C	ENST00000432218.1	-	0	31				AGTPBP1_ENST00000376109.3_Missense_Mutation_p.L132V|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.L80V|AGTPBP1_ENST00000357081.3_Missense_Mutation_p.L80V|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.L22V|AGTPBP1_ENST00000491784.1_Intron|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.L80V|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.L22V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1						C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTAGTTTGAAGATCTTTTGTG	0.303000													12	15					0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42383687	42383687	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:42383687C>G	ENST00000221972.3	+	3	647	c.462C>G	c.(460-462)ttC>ttG	p.F154L	CD79A_ENST00000444740.2_Missense_Mutation_p.F116L	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	154					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCCTCCTGTTCTGCGCGGTGG	0.667000			"""O, S"""		DLBCL								4	4					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642532	37642532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:37642532G>A	ENST00000356958.4	-	5	2527	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Nonsense_Mutation_p.Q394*|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.Q702*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.Q702*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGATTTCTGAACGAAGCCT	0.493000													30	73					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54059801	54059801	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:54059801C>T	ENST00000312233.2	-	3	1341	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	259					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TTGGGCTTCTCGCCCGAGTGC	0.667000													13	18					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407172	62407172	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:62407172G>C	ENST00000245663.4	-	3	1231	c.1081C>G	c.(1081-1083)Ctg>Gtg	p.L361V	ZBTB46_ENST00000302995.2_Missense_Mutation_p.L361V|ZBTB46_ENST00000395104.1_Missense_Mutation_p.L361V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCCTGATGCAGGGCGTCGTCC	0.662000													10	55					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162873277	162873277	+	Splice_Site	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:162873277C>A	ENST00000360534.3	-	18	2128		c.e18+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATTTAACTTACTTGTTTCATT	0.333000													14	48					2.61681e-11	2.77244e-11	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91729043	91729043	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:91729043G>A	ENST00000359028.2	+	44	10993	c.10768G>A	c.(10768-10770)Gaa>Aaa	p.E3590K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3536K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3586K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3590					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCATTGACTGAAAGACTACT	0.418000			T	BRAF	papillary thyroid								27	88					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147858803	147858803	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:147858803T>C	ENST00000513335.1	-	5	396	c.197A>G	c.(196-198)gAc>gGc	p.D66G	TTC29_ENST00000325106.4_Missense_Mutation_p.D40G|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000398886.4_Missense_Mutation_p.D66G			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	40							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATGATCTATGTCATCTTTTTC	0.303000													3	7					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946698	52946698	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:52946698C>T	ENST00000267119.5	-	1	233	c.164G>A	c.(163-165)cGg>cAg	p.R55Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	55	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ATTGAGGCTCCGGACACCCCC	0.657000													40	95					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4352929	4352929	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:4352929G>C	ENST00000599840.1	+	4	602	c.567G>C	c.(565-567)ctG>ctC	p.L189L	MPND_ENST00000359935.4_Silent_p.L189L|MPND_ENST00000262966.8_Silent_p.L189L|AC007292.4_ENST00000594776.1_RNA			Q8N594	MPND_HUMAN	MPN domain containing	189							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		aggagttgctgatggaagagg	0.662000													3	12					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618728	618728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:618728G>A	ENST00000358353.3	-	14	2153	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q611*|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	611	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGCATCGGCTGAGAGGTTCCT	0.657000													29	68					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111970199	111970199	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:111970199G>A	ENST00000361822.3	+	7	858	c.729G>A	c.(727-729)atG>atA	p.M243I	ZNF277_ENST00000450657.1_Missense_Mutation_p.M243I|AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	243						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAGATCACATGAGGAAAAAAC	0.323000													20	43					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37660865	37660865	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:37660865C>T	ENST00000585860.2	-	4	526	c.384G>A	c.(382-384)atG>atA	p.M128I	ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000356958.4_5'UTR|ZNF585A_ENST00000588354.1_5'UTR|ZNF585A_ENST00000355533.2_5'UTR|ZNF585A_ENST00000392157.2_5'UTR|ZNF585A_ENST00000292841.5_5'UTR																							GCTTGGCAGTCATCTGTGAAC	0.542000													3	12					0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4893512	4893512	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:4893512C>T	ENST00000396829.2	-	5	659	c.93G>A	c.(91-93)caG>caA	p.Q31Q	INCA1_ENST00000574617.1_Silent_p.Q31Q|INCA1_ENST00000575780.1_Silent_p.Q31Q|INCA1_ENST00000576820.1_Silent_p.Q31Q|INCA1_ENST00000355025.3_Silent_p.Q31Q	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	31						nucleus				upper_aerodigestive_tract(1)	1						GTCTGAGGCTCTGGGAAGGCA	0.542000													7	20					0	0	1	0	0
HOPX	84525	broad.mit.edu	37	4	57522052	57522052	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:57522052C>T	ENST00000554144.1	-	3	703	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HOPX_ENST00000381260.3_Missense_Mutation_p.E39K|HOPX_ENST00000555760.2_Missense_Mutation_p.E39K|HOPX_ENST00000503639.3_Missense_Mutation_p.E39K|HOPX_ENST00000381255.3_Missense_Mutation_p.E39K|HOPX_ENST00000420433.1_Missense_Mutation_p.E57K|HOPX_ENST00000317745.7_Missense_Mutation_p.E39K|HOPX_ENST00000556376.2_Missense_Mutation_p.E39K|HOPX_ENST00000508121.1_Missense_Mutation_p.E57K|HOPX_ENST00000337881.7_Missense_Mutation_p.E39K|HOPX_ENST00000553379.2_Missense_Mutation_p.E39K|HOPX_ENST00000556614.2_Missense_Mutation_p.E39K	NM_001145460.1	NP_001138932.1	Q9BPY8	HOP_HUMAN	HOP homeobox	39					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E57Q(1)|p.E39L(1)|p.E39Q(1)|p.E57L(1)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AGGCCTGCCTCGGCCGCGATG	0.687000													3	12					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239729	21239729	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:21239729C>G	ENST00000261560.5	+	5	796	c.615C>G	c.(613-615)ttC>ttG	p.F205L		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGAAGCCTTTCAAATGTAAAA	0.279000													9	21					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057628	57057628	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:57057628G>C	ENST00000308249.2	+	7	1633	c.1504G>C	c.(1504-1506)Gat>Cat	p.D502H		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	511					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGAGGAATCAGATTGGACAGA	0.478000													24	69					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	116					0	0	1	0	0
C1orf123	54987	broad.mit.edu	37	1	53683876	53683876	+	Splice_Site	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:53683876C>G	ENST00000294360.4	-	5	271		c.e5-1		C1orf123_ENST00000470385.1_Splice_Site	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CTTAAAATCTCTGAAATAGAA	0.478000													5	34					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181104	81181104	+	RNA	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:81181104C>T	ENST00000525539.1	-	0	4986				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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						AGGGAGCTGACGATTCTTGAC	0.582000													5	40					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139409841	139409841	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:139409841C>T	ENST00000277541.6	-	12	1990	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	639	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E639K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTTGATCTCGCAGTTGGGT	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			33	15					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722318	196722318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:196722318C>A	ENST00000312428.6	-	44	8297	c.8197G>T	c.(8197-8199)Gag>Tag	p.E2733*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2733	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAAATCCTCAATTTTTTTC	0.428000													17	60					1.02788e-11	1.09626e-11	1	1	0
NOP56	10528	broad.mit.edu	37	20	2633520	2633520	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:2633520C>G	ENST00000329276.5	+	2	552	c.36C>G	c.(34-36)gtC>gtG	p.V12V		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	12					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGCACGCGGTCGGCTACGCGC	0.672000													6	14					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319000	21319000	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:21319000G>A	ENST00000583088.1	+	3	1241	c.346G>A	c.(346-348)Gag>Aag	p.E116K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E116K	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGAGCCGGCTGAGGGCCGGGG	0.647000										Prostate(3;0.18)			4	27					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867811	31867811	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:31867811G>A	ENST00000375527.2	-	2	1447	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GCTTGTGGGCGAAGCGCACGT	0.627000													3	20					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41557016	41557016	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:41557016C>T	ENST00000396942.1	-	23	2595	c.2512G>A	c.(2512-2514)Gat>Aat	p.D838N	ANK1_ENST00000352337.4_Missense_Mutation_p.D838N|ANK1_ENST00000347528.4_Missense_Mutation_p.D838N|ANK1_ENST00000289734.7_Missense_Mutation_p.D838N|ANK1_ENST00000396945.1_Missense_Mutation_p.D838N|ANK1_ENST00000265709.8_Missense_Mutation_p.D879N|ANK1_ENST00000379758.2_Missense_Mutation_p.D838N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	838					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.D838N(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCTTCATCAACATCCCTG	0.577000													75	119					0	0	1	0	0
TXLNG	55787	broad.mit.edu	37	X	16850772	16850772	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:16850772G>A	ENST00000380122.5	+	6	952	c.891G>A	c.(889-891)aaG>aaA	p.K297K	TXLNG_ENST00000398155.4_Silent_p.K165K	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	297					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TCAAACATAAGGAACTGCAAC	0.428000													35	24					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491563	30491563	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:30491563C>G	ENST00000222823.4	-	6	1995	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	490	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCATGTCTCTCTCCTGCAGCC	0.652000													13	36					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374403	81374403	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:81374403C>T	ENST00000222390.5	-	6	885	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	HGF_ENST00000444829.2_Missense_Mutation_p.R220Q|HGF_ENST00000457544.2_Missense_Mutation_p.R215Q|HGF_ENST00000453411.1_Missense_Mutation_p.R215Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	220	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CATGAGACCTCGATAACTCTC	0.393000													22	55					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125379145	125379145	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:125379145G>A	ENST00000521654.2	+	3	1174	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	RNF217_ENST00000359704.2_Missense_Mutation_p.E100K|RNF217_ENST00000560949.1_Missense_Mutation_p.E157K|RNF217_ENST00000275184.6_Missense_Mutation_p.E36K|RNF217_ENST00000368414.2_5'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	100					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TCCTTGGCATGAAGGTGTTAA	0.438000													12	76					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96054269	96054269	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:96054269G>A	ENST00000358812.4	+	5	1511	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	459	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATCGCCAGCTGCCTGTTTCTT	0.343000													3	32					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824842	162824842	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:162824842C>T	ENST00000367910.1	-	4	742	c.622G>A	c.(622-624)Gag>Aag	p.E208K	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	208										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GATCTGGTCTCATCAGCACAT	0.463000													34	68					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31122481	31122481	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:31122481C>T	ENST00000394951.1	+	10	1409	c.786C>T	c.(784-786)ttC>ttT	p.F262F	BCKDK_ENST00000287507.3_Silent_p.F262F|BCKDK_ENST00000219794.6_Silent_p.F262F|BCKDK_ENST00000394950.3_Silent_p.F262F			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	262	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CTGCCCGGTTCCCCTTCATCC	0.612000													23	41					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491189	30491189	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:30491189C>T	ENST00000222823.4	-	6	2369	c.1844G>A	c.(1843-1845)aGa>aAa	p.R615K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	615					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTTGCGCTTTCTCCTCAGGGC	0.607000													12	14					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383666	79383666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:79383666C>A	ENST00000370742.3	-	11	1594	c.1531G>T	c.(1531-1533)Gaa>Taa	p.E511*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	511					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGTATGCCTTCAATGCACATC	0.378000													20	85					2.4624e-09	2.57481e-09	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21606908	21606908	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:21606908C>T	ENST00000392288.2	+	4	1556	c.1447C>T	c.(1447-1449)Cat>Tat	p.H483Y	ZNF493_ENST00000355504.4_Missense_Mutation_p.H355Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAGGATAATTCATACTGAAGA	0.318000													12	55					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1961244	1961244	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:1961244C>T	ENST00000382895.3	+	19	3463	c.3032C>T	c.(3031-3033)tCa>tTa	p.S1011L	WHSC1_ENST00000508803.1_Missense_Mutation_p.S1011L|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1011L|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1011L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.S359L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1011	AWS.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCGGATATTTCAGAAATCCCT	0.498000			T	IGH@	MM								12	33					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133041348	133041348	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:133041348C>T	ENST00000262283.5	-	17	1845	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	OC90_ENST00000603859.1_Silent_p.P370P|OC90_ENST00000443356.2_Silent_p.P386P|OC90_ENST00000254627.3_Silent_p.P370P			Q02509	OC90_HUMAN	otoconin 90	386					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CACACACCACCGGTGACCAAG	0.502000													22	49					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29819028	29819028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:29819028C>T	ENST00000219782.6	+	2	1028	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Nonsense_Mutation_p.Q285*|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000562337.1_Intron|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000322945.6_Nonsense_Mutation_p.Q308*	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	308					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAGCCCTACCAGTGCCCGGT	0.617000													44	76					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79465190	79465190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:79465190G>C	ENST00000507668.2	-	6	881	c.731C>G	c.(730-732)tCa>tGa	p.S244*	SERINC5_ENST00000509193.1_Nonsense_Mutation_p.S244*|SERINC5_ENST00000512721.1_Nonsense_Mutation_p.S244*|SERINC5_ENST00000512972.2_Nonsense_Mutation_p.S244*	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	244					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCTACCAATGATATAAGCAG	0.423000													23	21					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65361438	65361438	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:65361438G>T	ENST00000330909.8	-	19	3261	c.3262C>A	c.(3262-3264)Cgc>Agc	p.R1088S	MAGI1_ENST00000483466.1_Missense_Mutation_p.R1089S|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Missense_Mutation_p.R1060S	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1089					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATGATGCGGAGGGTAACT	0.438000													30	69					2.08457e-15	2.27364e-15	1	1	0
TMEM132E	124842	broad.mit.edu	37	17	32964796	32964796	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:32964796G>A	ENST00000321639.5	+	10	2828	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	834						integral to membrane		p.E834K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CATCCCGCCCGAGGGCCAGAC	0.647000													20	62					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235318271	235318271	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:235318271G>C	ENST00000408888.3	-	4	752	c.522C>G	c.(520-522)atC>atG	p.I174M	RBM34_ENST00000366606.3_Missense_Mutation_p.I169M			P42696	RBM34_HUMAN	RNA binding motif protein 34	174						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTTCTTGGTTGATTTGAATTT	0.333000													38	75					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879574	151879574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:151879574G>A	ENST00000355193.2	-	36	5589	c.5371C>T	c.(5371-5373)Cag>Tag	p.Q1791*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1791*					lysine (K)-specific methyltransferase 2C									p.Q1791*(2)									AGAAGATGCTGAGAACCAAAT	0.468000													36	112					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8220001	8220001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:8220001G>A	ENST00000539824.1	+	8	989	c.615G>A	c.(613-615)tgG>tgA	p.W205*	SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.W281*			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	281							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTCCAGGTGGGCTCTTAGGA	0.602000													12	24					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135768262	135768262	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:135768262C>G	ENST00000367800.4	-	11	1879	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	AHI1_ENST00000457866.2_Missense_Mutation_p.E555Q|AHI1_ENST00000327035.6_Missense_Mutation_p.E555Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	555						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTTTTCCTCCTGAAGAGCC	0.358000													34	63					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361826	9361826	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:9361826C>T	ENST00000456448.1	+	1	221	c.107C>T	c.(106-108)tCa>tTa	p.S36L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTGGGACTCTCAGAGGATCCA	0.517000													17	34					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045854	80045854	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:80045854C>G	ENST00000306749.2	-	18	3060	c.2842G>C	c.(2842-2844)Gag>Cag	p.E948Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	948					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTGCCGTTCTCTGACACCTCG	0.687000													14	50					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2762753	2762753	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:2762753G>A	ENST00000302641.3	-	6	795	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	247	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CACCCCAGCTGATCACCCCCG	0.672000													4	4					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481418	159481418	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:159481418G>A	ENST00000389757.3	+	7	757	c.632G>A	c.(631-633)aGa>aAa	p.R211K	PKP4_ENST00000389759.3_Missense_Mutation_p.R211K	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	211					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCCATGAGAAGAGTTAGTTCA	0.458000										HNSCC(62;0.18)			35	86					0	0	1	0	0
C2orf68	388969	broad.mit.edu	37	2	85839104	85839104	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:85839104C>T	ENST00000306336.5	-	1	48	c.4G>A	c.(4-6)Gag>Aag	p.E2K	C2orf68_ENST00000409734.3_Missense_Mutation_p.E2K|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	2										breast(1)|central_nervous_system(1)|endometrium(1)	3						GGCCCCGCCTCCATCAGGAGC	0.721000													5	1					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67079350	67079350	+	Nonsense_Mutation	SNP	G	G	T	rs78494651	by1000genomes	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:67079350G>T	ENST00000308127.4	+	14	2150	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*	SSH3_ENST00000308298.7_Nonsense_Mutation_p.E393*|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	658					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGAGGAGGGCGAGGCCTGAGC	0.627000													11	37					0.00136819	0.0013884	1	1	0
FSD2	123722	broad.mit.edu	37	15	83428165	83428165	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:83428165C>G	ENST00000334574.8	-	13	2366	c.2185G>C	c.(2185-2187)Gaa>Caa	p.E729Q	FSD2_ENST00000541889.1_Missense_Mutation_p.E684Q			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	729	B30.2/SPRY.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCAGGCTTTTCCAAAGAAAAA	0.378000													7	14					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42447755	42447755	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:42447755C>T	ENST00000397272.3	-	2	235	c.144G>A	c.(142-144)gtG>gtA	p.V48V	PLA2G4F_ENST00000382396.4_Silent_p.V48V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	48	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCAGCACCTTCACCTGGAGGT	0.577000													14	27					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252680	185252680	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:185252680G>A	ENST00000296252.4	-	2	431	c.290C>T	c.(289-291)tCt>tTt	p.S97F	LIPH_ENST00000424591.2_Missense_Mutation_p.S97F	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	97					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTCTTCAACAGAGAGCAAACC	0.433000													27	79					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201081	24201081	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:24201081C>T	ENST00000536471.1	-	3	1285	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	CNR2_ENST00000374472.4_Missense_Mutation_p.D343N			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	343					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATTTTCCCATCAGCCTCTGTC	0.512000													46	78					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85770131	85770131	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:85770131C>G	ENST00000306434.3	+	8	1182	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	MAT2A_ENST00000409017.1_Missense_Mutation_p.F290L	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	353					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGAAGAATTTCGATCTCCGCC	0.423000													29	45					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16901637	16901637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:16901637G>A	ENST00000310398.2	-	5	344	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	AGR3_ENST00000402239.3_Nonsense_Mutation_p.Q92*	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	92						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AACTTATTCTGAGCCATTTCT	0.294000													12	53					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572568	47572568	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:47572568C>T	ENST00000253048.5	-	14	2216	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	727							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCCCAGGCTCCCCTGGCAGC	0.682000													4	13					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54649068	54649068	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:54649068C>T	ENST00000230640.5	+	14	1758	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R401C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	502	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TACAAATGCCCGCAAATTTGA	0.323000													29	47					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121433760	121433760	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:121433760G>A	ENST00000275159.6	-	30	3337	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F	TBC1D32_ENST00000398212.2_Missense_Mutation_p.S1072F|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		CATGAACAGAGAAGATACAAA	0.348000													15	40					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502654	64502654	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:64502654G>C	ENST00000377494.1	-	11	2264	c.1342C>G	c.(1342-1344)Cag>Gag	p.Q448E	RASGRP2_ENST00000354024.3_Missense_Mutation_p.Q448E|RASGRP2_ENST00000377497.3_Missense_Mutation_p.Q448E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.Q448E			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	448	EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATTCTTCCTGTGAGATGTGG	0.592000													21	27					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911284	130911284	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:130911284C>T	ENST00000409031.1	-	17	3149	c.2001G>A	c.(1999-2001)caG>caA	p.Q667Q	SMPD4_ENST00000452225.2_Silent_p.Q408Q|SMPD4_ENST00000351288.6_Silent_p.Q638Q|SMPD4_ENST00000339679.7_Silent_p.Q525Q|SMPD4_ENST00000443958.2_Silent_p.Q331Q|SMPD4_ENST00000431183.2_Silent_p.Q565Q|SMPD4_ENST00000453750.1_Silent_p.Q416Q|SMPD4_ENST00000426662.2_Silent_p.Q303Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	628					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCCGGAATATCTGGCGCAGGT	0.607000													23	38					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107525	31107525	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:31107525C>G	ENST00000259881.9	+	6	564	c.275C>G	c.(274-276)tCc>tGc	p.S92C	PSORS1C1_ENST00000547221.1_Missense_Mutation_p.S44C|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.S29C	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	92										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GTTCCCTCTTCCCACCCAGAG	0.562000													9	50					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2027238	2027238	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:2027238G>C	ENST00000568546.1	+	15	1752	c.1624G>C	c.(1624-1626)Gat>Cat	p.D542H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	542					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GGCCTCAGCTGATGGCACCAT	0.637000													9	25					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458557	155458557	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:155458557G>C	ENST00000461783.3	+	7	2714	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.E481Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.E481Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.E481Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.E481Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	481					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AACATCTACAGAAACCGCCGA	0.532000													33	76					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43571793	43571793	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:43571793G>T	ENST00000372813.3	-	7	1039	c.887C>A	c.(886-888)cCt>cAt	p.P296H	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	296					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CTTCTGTGCAGGACCATTCCT	0.512000													21	126					1.50039e-11	1.59665e-11	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14577561	14577561	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:14577561G>A	ENST00000544627.1	+	2	1056	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ATF7IP_ENST00000543189.1_Missense_Mutation_p.D238N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D238N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D238N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D238N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	238					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AACTTCTGTTGATCTGGCTTC	0.512000													50	118					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145157000	145157000	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:145157000G>C	ENST00000367545.3	+	69	9750	c.9750G>C	c.(9748-9750)caG>caC	p.Q3250H	UTRN_ENST00000367526.4_Missense_Mutation_p.Q805H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3250					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCAGCTCAGATCCTGAAGT	0.547000													19	103					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850611	245850611	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:245850611G>C	ENST00000366518.4	+	9	3287	c.3183G>C	c.(3181-3183)ctG>ctC	p.L1061L	KIF26B_ENST00000407071.2_Silent_p.L1442L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1442					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCCGTGGCTGAAACGAGAAG	0.547000													3	4					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114255	57114255	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:57114255C>T	ENST00000454682.1	-	3	1340	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Silent_p.Q353Q	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTACAGATCTCTGAGAAGGAT	0.478000			T	BCL6	NHL								6	16					0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77805847	77805847	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr18:77805847G>A	ENST00000306735.5	+	7	862	c.724G>A	c.(724-726)Gag>Aag	p.E242K	RBFA_ENST00000262197.7_Missense_Mutation_p.M213I|RP11-795F19.5_ENST00000569722.1_Intron|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	242					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GATCGATCATGAGGCGCTCAA	0.582000													20	61					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805556	24805556	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:24805556C>T	ENST00000216274.5	-	10	1600	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	RP11-934B9.3_ENST00000555591.1_Intron	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	461					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GTTGTTGTCTCCAACTTGCAC	0.537000													46	144					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110177	48110177	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:48110177G>A	ENST00000422538.3	-	6	779	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000545824.2_Silent_p.F156F|ENDOU_ENST00000229003.3_Silent_p.F178F|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	219					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CCTGGGCACTGAAGTGCTCCC	0.542000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109292482	109292482	+	Silent	SNP	C	C	T	rs149956241	byFrequency	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:109292482C>T	ENST00000228476.3	+	9	927	c.723C>T	c.(721-723)atC>atT	p.I241I	DAO_ENST00000551281.1_Silent_p.I175I	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	241					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TTGGAGGCATCTTCCAGTTGG	0.468000													13	54					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136934	46136934	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:46136934C>T	ENST00000362042.3	+	6	2866	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	NFE2L1_ENST00000582155.1_Silent_p.L562L|NFE2L1_ENST00000357480.5_Silent_p.L720L|NFE2L1_ENST00000583378.1_Silent_p.L551L|NFE2L1_ENST00000536222.1_Silent_p.L594L|NFE2L1_ENST00000585291.1_Silent_p.L720L|NFE2L1_ENST00000361665.3_Silent_p.L739L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	750					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTCCTCCTCATCCCCCGCA	0.647000													8	26					0	0	1	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126278201	126278201	+	Splice_Site	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:126278201G>C	ENST00000526727.1	+	7	811		c.e7-1		ST3GAL4_ENST00000227495.6_Splice_Site|ST3GAL4_ENST00000392669.2_Splice_Site|ST3GAL4_ENST00000356132.4_Splice_Site|ST3GAL4_ENST00000449406.2_Splice_Site|ST3GAL4_ENST00000444328.2_Splice_Site|ST3GAL4_ENST00000534457.1_Splice_Site|ST3GAL4_ENST00000532243.1_Splice_Site|ST3GAL4_ENST00000526756.1_Splice_Site|ST3GAL4_ENST00000530591.1_Splice_Site|ST3GAL4_ENST00000534083.1_Splice_Site			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4						post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CCAACCCCCAGATTGAACAAT	0.562000													11	23					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693190	75693190	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:75693190C>T	ENST00000394947.3	-	11	1932	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	SIN3A_ENST00000360439.4_Missense_Mutation_p.E540K|SIN3A_ENST00000394949.4_Missense_Mutation_p.E540K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	540	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCAATGCCCTCTGTGGCTCGC	0.438000													27	34					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115683	15115683	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:15115683G>A	ENST00000253699.3	-	14	2574	c.1961C>T	c.(1960-1962)tCa>tTa	p.S654L	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.S654L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	654	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GATGCGGGCTGAAGGGTCTAA	0.567000													33	139					0	0	1	0	0
CNPY3	10695	broad.mit.edu	37	6	42905473	42905473	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:42905473G>A	ENST00000372836.4	+	4	762	c.391G>A	c.(391-393)Gag>Aag	p.E131K	CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	131	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGAGACCTTTGAGACATTACA	0.552000													22	139					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965512	123965512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:123965512G>T	ENST00000314393.4	+	3	2597	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	588						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACAGCATGGAACAAGCTGT	0.572000													17	39					2.23348e-06	2.30044e-06	1	1	0
CIDEA	1149	broad.mit.edu	37	18	12277137	12277137	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr18:12277137C>G	ENST00000320477.9	+	5	593	c.528C>G	c.(526-528)ttC>ttG	p.F176L	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	176					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						TGCTGCGGTTCCTGTCCTACT	0.577000													18	51					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224011	248224011	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:248224011G>A	ENST00000359959.3	+	1	28	c.28G>A	c.(28-30)Gat>Aat	p.D10N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AACATCAACTGATTTCATCTT	0.388000													43	126					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543700	141543700	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:141543700C>T	ENST00000442267.2	-	21	3524	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1150						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTCAGAGATCAGCATGGAGG	0.622000													23	56					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				4	7					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35298090	35298090	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:35298090C>T	ENST00000254457.5	+	3	1992	c.581C>T	c.(580-582)aCg>aTg	p.T194M	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	194					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CAGCTGGAGACGCTGAAGGCC	0.652000													3	15					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140314	3140314	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:3140314C>T	ENST00000252463.2	-	5	1043	c.956G>A	c.(955-957)cGc>cAc	p.R319H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R237H|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	319					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGAAGGAGCGCCCAGCCGG	0.672000													14	29					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084821	39084821	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:39084821G>C	ENST00000209718.3	-	5	1099	c.675C>G	c.(673-675)gtC>gtG	p.V225V	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.V88V	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	225	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCTTCACATTGACATTGAAGT	0.413000													54	91					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580373	22580373	+	RNA	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:22580373G>A	ENST00000390454.2	+	0	74																											GAGGGAGAGGGAGATGCTACT	0.433000													20	42					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132229998	132229998	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:132229998G>A	ENST00000260818.6	+	44	5451	c.5203G>A	c.(5203-5205)Gca>Aca	p.A1735T		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1735							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CACACACGCGGCAAAAGTGGA	0.453000													4	132					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816370	1816370	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:1816370G>A	ENST00000250894.4	+	22	2933	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D920N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	926					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTCTTCACTGACCCAGCCCC	0.692000													11	30					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58131091	58131091	+	Silent	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:58131091G>T	ENST00000547588.1	-	1	938	c.939C>A	c.(937-939)ccC>ccA	p.P313P	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	313	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGCAGGCCCGGGGGGCTGCG	0.682000													16	23					3.52763e-06	3.61789e-06	1	1	0
AMZ2	51321	broad.mit.edu	37	17	66247009	66247009	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:66247009T>C	ENST00000359904.3	+	3	1490	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	AMZ2_ENST00000577866.1_Missense_Mutation_p.Y120H|AMZ2_ENST00000577273.1_Missense_Mutation_p.Y120H|AMZ2_ENST00000577985.1_Missense_Mutation_p.Y120H|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.Y120H|AMZ2_ENST00000392720.2_Missense_Mutation_p.Y120H	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	120							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCATATTTCTATGGCTTGAG	0.368000													18	43					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027214	48027214	+	Nonsense_Mutation	SNP	C	C	T	rs63750832		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:48027214C>T	ENST00000234420.5	+	4	2244	c.2092C>T	c.(2092-2094)Cag>Tag	p.Q698*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.Q568*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Nonsense_Mutation_p.Q396*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6				Q -> E (in suspected HNPCC; could be a polymorphism).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTATTGATCAGGAGCTTTT	0.418000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				42	106					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28384797	28384797	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:28384797G>A	ENST00000394835.3	+	13	2661	c.2469G>A	c.(2467-2469)ctG>ctA	p.L823L	EFCAB5_ENST00000378738.3_Silent_p.L823L|EFCAB5_ENST00000541045.1_Silent_p.L480L|EFCAB5_ENST00000536908.2_Silent_p.L767L|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Silent_p.L823L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	823							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAACTCCTGGAGACATTTG	0.423000													31	65					0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700744	44700744	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:44700744C>G	ENST00000396056.2	+	4	1124	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	ZNF35_ENST00000542250.1_Missense_Mutation_p.Q137E|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	297					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GACTGTACATCAAAAAATCCA	0.403000													27	50					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87898685	87898685	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:87898685G>A	ENST00000327946.7	-	4	702	c.617C>T	c.(616-618)aCc>aTc	p.T206I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	206						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAAGAGGCTGGTGAATACGTG	0.572000										Multiple Myeloma(13;0.14)			31	123					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159904248	159904248	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:159904248G>C	ENST00000368094.1	-	8	1125	c.928C>G	c.(928-930)Cca>Gca	p.P310A	IGSF9_ENST00000361509.3_Missense_Mutation_p.P310A	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	310	Ig-like 3.					cell junction|integral to membrane|synapse		p.L308_S312>P(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGAGGGTGGATGCAGGAGG	0.672000													6	8					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129842462	129842462	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:129842462C>G	ENST00000397622.2	-	4	363	c.241G>C	c.(241-243)Gat>Cat	p.D81H	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.D80H|TMEM209_ENST00000473456.1_Missense_Mutation_p.D81H|TMEM209_ENST00000462753.1_Missense_Mutation_p.D80H	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	81						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CTCCAAAAATCAAATAAGGCA	0.408000													21	35					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094816	46094816	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:46094816G>C	ENST00000323040.4	-	2	1253	c.309C>G	c.(307-309)atC>atG	p.I103M	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	103						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGCGATGCTGATGTAGATAT	0.632000													18	46					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866444	37866444	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:37866444C>T	ENST00000406381.2	+	8	1169	c.659C>T	c.(658-660)tCt>tTt	p.S220F	ERBB2_ENST00000540042.1_Missense_Mutation_p.S220F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S220F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S220F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S250F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S235F|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.S220F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S250F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	250					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCAAGCACTCTGACTGCCTG	0.657000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			15	43					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853307	39853307	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:39853307C>G	ENST00000564288.1	+	58	15570	c.14793C>G	c.(14791-14793)gtC>gtG	p.V4931V	MACF1_ENST00000317713.7_Silent_p.V2869V|MACF1_ENST00000545844.1_Silent_p.V2869V|MACF1_ENST00000361689.2_Silent_p.V2869V|MACF1_ENST00000567887.1_Silent_p.V4968V|MACF1_ENST00000289893.4_Silent_p.V3371V|MACF1_ENST00000539005.1_Silent_p.V2848V|MACF1_ENST00000372915.3_Silent_p.V4936V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4936					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTGCGAGTCACTCTGGATC	0.463000													10	29					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551163	102551163	+	Missense_Mutation	SNP	T	T	A	rs55793809	byFrequency	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:102551163T>A	ENST00000334701.7	-	6	1483	c.1202A>T	c.(1201-1203)aAg>aTg	p.K401M	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K100M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K279M	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ttccttaatcttcttcttctt	0.393000													14	23					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151129177	151129177	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:151129177C>G	ENST00000474524.1	+	39	5955	c.5917C>G	c.(5917-5919)Ccg>Gcg	p.P1973A	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1973	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGAGCCTATCCGGCCGCACA	0.572000													18	44					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644900	70644900	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:70644900G>C	ENST00000298596.6	+	3	1431	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	STOX1_ENST00000399169.4_Missense_Mutation_p.E450Q|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.E340Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	450						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTAGACTGGAGAAACACCC	0.498000													29	65					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303519	11303519	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:11303519C>T	ENST00000432929.2	-	4	1597	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	KANK2_ENST00000355150.5_Missense_Mutation_p.D413N|KANK2_ENST00000589359.1_Missense_Mutation_p.D413N|KANK2_ENST00000589894.1_Missense_Mutation_p.D413N|KANK2_ENST00000586659.1_Missense_Mutation_p.D413N	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	413										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTGCTCCATCGCAGCTTCGC	0.612000													18	58					0	0	1	0	0
TFB1M	51106	broad.mit.edu	37	6	155632426	155632426	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:155632426C>T	ENST00000367166.4	-	2	236	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		GGGCCCACTTCGTAAACATAA	0.408000													21	36					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088362	86088362	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:86088362G>C	ENST00000330753.4	+	2	1271	c.504G>C	c.(502-504)aaG>aaC	p.K168N	FLRT2_ENST00000554746.1_Missense_Mutation_p.K168N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	168					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTTGTCTAAGAATCACCTGA	0.502000													12	19					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719016	95719016	+	RNA	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:95719016C>T	ENST00000480546.1	-	0	2281					NR_002319.2																						CTGCCGCTGCCGCTGCTCTTC	0.587000													20	49					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25263511	25263511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:25263511C>T	ENST00000218548.6	+	5	877	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	ATP12A_ENST00000381946.3_Nonsense_Mutation_p.Q182*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	182					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GATGATCCCTCAGGTGAGTGG	0.547000													17	27					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62616311	62616311	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:62616311G>C	ENST00000535781.1	+	3	403	c.292G>C	c.(292-294)Gat>Cat	p.D98H	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	98					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CGAGAAAGATGATGAGGAAGC	0.413000													7	38					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73815895	73815895	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:73815895G>C	ENST00000223398.6	+	16	3454	c.3127G>C	c.(3127-3129)Gag>Cag	p.E1043Q	CLIP2_ENST00000361545.5_Missense_Mutation_p.E1008Q|CLIP2_ENST00000395060.1_Missense_Mutation_p.E1043Q	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	1043						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCAGAAACAAGAGGTGAGGGG	0.557000											OREG0018117	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124493078	124493078	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:124493078G>A	ENST00000357628.3	-	10	1415	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	POT1_ENST00000393329.1_Missense_Mutation_p.R142W	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	273	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTGATTCCCCGACCGTAACTG	0.363000													15	26					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73821107	73821107	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:73821107C>T	ENST00000342056.2	+	7	1504	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.P369L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P369L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P369L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P369L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P369L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P369L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.P369L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	369					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AGAAGGAACCCAGCTGCCAAC	0.408000													18	58					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217181	16217181	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:16217181G>T	ENST00000339732.5	+	1	1026	c.523G>T	c.(523-525)Gag>Tag	p.E175*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.E175*|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGCTCTGCCCGAGGTGCGGCA	0.607000													9	16					1.12685e-05	1.15078e-05	1	1	0
LZTFL1	54585	broad.mit.edu	37	3	45869964	45869964	+	Silent	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:45869964G>T	ENST00000296135.6	-	8	918	c.744C>A	c.(742-744)ctC>ctA	p.L248L	LZTFL1_ENST00000539217.1_Silent_p.L244L|LZTFL1_ENST00000536047.1_Silent_p.L231L	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	248										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CCTGAACCCTGAGTAGATCGT	0.443000													22	76					3.5997e-14	3.89091e-14	1	1	0
TYK2	7297	broad.mit.edu	37	19	10472942	10472942	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:10472942C>A	ENST00000525621.1	-	11	2148	c.1667G>T	c.(1666-1668)gGa>gTa	p.G556V	TYK2_ENST00000529370.1_Missense_Mutation_p.G556V|TYK2_ENST00000264818.6_Missense_Mutation_p.G556V|TYK2_ENST00000524462.1_Missense_Mutation_p.G371V	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	556					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CATCGTACCTCCTGGTTGGGG	0.627000													10	28					0.0135373	0.0136223	1	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333762	47333762	+	RNA	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:47333762C>G	ENST00000505841.1	-	0	926					NR_002788.2																						TGAACGTTTTCACTTCAGCTT	0.408000													13	37					0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128631594	128631594	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:128631594C>G	ENST00000272647.5	-	3	475	c.215G>C	c.(214-216)gGa>gCa	p.G72A	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G72A	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	72										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGAGAGTTTCCAGGTCCCAG	0.547000													14	42					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59522183	59522183	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:59522183G>C	ENST00000038176.3	-	10	879	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.Q254E	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	223	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGAGGGGCTGAAAATACAGG	0.532000													9	47					0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173429255	173429255	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:173429255C>T	ENST00000282077.3	+	4	617	c.435C>T	c.(433-435)atC>atT	p.I145I	PDK1_ENST00000410055.1_Silent_p.I145I|PDK1_ENST00000543905.1_Silent_p.I69I|PDK1_ENST00000392571.2_Silent_p.I165I|PDK1_ENST00000544863.1_5'UTR			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGATACGGATCAGAAACCGAC	0.403000									Autosomal Dominant Polycystic Kidney Disease				28	65					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150564	193150564	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:193150564G>C	ENST00000367434.4	-	2	884	c.129C>G	c.(127-129)ttC>ttG	p.F43L	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	43					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CATGATGATTGAAAAACAAAA	0.418000													19	64					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64153232	64153232	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:64153232G>C	ENST00000247225.6	-	3	1011	c.917C>G	c.(916-918)tCt>tGt	p.S306C		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	306						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AAGAGTGAAAGAAAAGATCCC	0.438000													10	23					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577398	71577398	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:71577398G>A	ENST00000409544.1	+	2	1944	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L	ZNF638_ENST00000377802.2_Silent_p.L438L|ZNF638_ENST00000264447.4_Silent_p.L438L|ZNF638_ENST00000355812.3_Silent_p.L438L|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	438					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GTAGTCATTTGAAGGTGAGTG	0.358000													18	77					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605933	142605933	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:142605933C>T	ENST00000265310.1	-	15	2285	c.1937G>A	c.(1936-1938)cGc>cAc	p.R646H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	646					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTCCACATAGCGAAGCACTCG	0.537000													11	43					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690167	38690167	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:38690167G>A	ENST00000396832.1	-	9	1426	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	CSNK1E_ENST00000359867.3_Missense_Mutation_p.S389F|CSNK1E_ENST00000403904.1_Missense_Mutation_p.S389F|CSNK1E_ENST00000400206.2_Missense_Mutation_p.S389F	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	389					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTCTGAGGAGGAGACGTTGGC	0.637000													7	10					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20458027	20458027	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:20458027C>G	ENST00000361078.2	-	15	2483	c.2461G>C	c.(2461-2463)Gaa>Caa	p.E821Q	PUM2_ENST00000338086.5_Missense_Mutation_p.E821Q|PUM2_ENST00000536417.1_Missense_Mutation_p.E765Q|PUM2_ENST00000403432.1_Missense_Mutation_p.E821Q|PUM2_ENST00000319801.5_Missense_Mutation_p.E742Q			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	821	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAATAGATTCTAATGCTTTC	0.338000													8	32					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155850996	155850996	+	Silent	SNP	T	T	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:155850996T>C	ENST00000368324.4	+	4	1246	c.993T>C	c.(991-993)taT>taC	p.Y331Y	SYT11_ENST00000539162.1_Silent_p.Y24Y	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	331	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAGATCCTTATGTCAAGGTGA	0.458000													58	149					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279664	50279664	+	Silent	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:50279664G>T	ENST00000284509.6	-	10	813	c.672C>A	c.(670-672)ctC>ctA	p.L224L	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Silent_p.L224L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	224					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTCATTGTTGAGGGAATGCT	0.418000													19	53					7.45023e-12	7.96346e-12	1	1	0
AKAP1	8165	broad.mit.edu	37	17	55183618	55183618	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:55183618G>C	ENST00000337714.3	+	2	1026	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	AKAP1_ENST00000572557.1_Missense_Mutation_p.E265Q|AKAP1_ENST00000539273.1_Missense_Mutation_p.E265Q|AKAP1_ENST00000571629.1_Missense_Mutation_p.E265Q|AKAP1_ENST00000314126.3_Missense_Mutation_p.E265Q	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	265					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTATGTAGCAGAGAAGTTGCC	0.597000													23	64					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50365343	50365343	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:50365343G>C	ENST00000322344.3	-	13	1255	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	PNKP_ENST00000600910.1_Silent_p.L382L|PNKP_ENST00000600573.1_Silent_p.L351L|PNKP_ENST00000596014.1_Silent_p.L382L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	382					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGTGCTTCTTGAGAAAGGTGG	0.592000								Other BER factors					5	41					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184075573	184075573	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:184075573G>C	ENST00000265593.4	-	6	858	c.687C>G	c.(685-687)atC>atG	p.I229M	CLCN2_ENST00000423355.2_De_novo_Start_InFrame|CLCN2_ENST00000344937.7_Missense_Mutation_p.I229M|CLCN2_ENST00000457512.1_Missense_Mutation_p.I229M|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.I185M	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	229						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTACCTCATAGATACCCCCAA	0.612000													15	32					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052253	40052253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:40052253C>T	ENST00000373233.3	-	30	4611	c.4434G>A	c.(4432-4434)tgG>tgA	p.W1478*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1478					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGAACTGTGTCCAGTCAAAGG	0.428000													80	162					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22947873	22947873	+	RNA	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:22947873G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRAJ57_ENST00000390482.1_RNA																							ACTCAGGGCGGATCTGAAAAG	0.512000													6	25					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281614	15281614	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:15281614C>T	ENST00000263388.2	-	26	4834	c.4759G>A	c.(4759-4761)Gac>Aac	p.D1587N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1587					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCCGGTTGTCAATCTCCAGC	0.612000													8	10					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11035669	11035669	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:11035669C>T	ENST00000428168.2	-	2	128	c.91G>A	c.(91-93)Gta>Ata	p.V31I	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	31	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CCTGATATTACGAGGGGAACA	0.383000													21	48					0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	194622	194622	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:194622G>C	ENST00000398612.1	+	5	610	c.227G>C	c.(226-228)aGa>aCa	p.R76T	ZNF596_ENST00000320552.2_Intron|ZNF596_ENST00000308811.4_Missense_Mutation_p.R76T	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATTTCAGGTAGAGAAGTTGGC	0.353000													4	27					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947472	237947472	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:237947472G>A	ENST00000366574.2	+	90	12777	c.12460G>A	c.(12460-12462)Gag>Aag	p.E4154K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4160K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E4138K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4154					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)			TGAAATCAGTGAGTCCAGCCG	0.502000													26	62					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197559809	197559809	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:197559809G>A	ENST00000389175.4	+	14	1684	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.E185K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	517										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGACTCTTGAAGAAGAGAA	0.348000													15	26					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351151	35351151	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:35351151C>G	ENST00000373347.1	-	7	2110	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.K614N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	614					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGGGATGGTCTTGATGATGA	0.736000													3	11					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011280	141011280	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:141011280G>C	ENST00000508812.1	+	5	2556	c.649G>C	c.(649-651)Gac>Cac	p.D217H	ACPL2_ENST00000286353.4_Missense_Mutation_p.D226H|ACPL2_ENST00000502783.1_Missense_Mutation_p.D188H|ACPL2_ENST00000393010.2_Missense_Mutation_p.D226H|ACPL2_ENST00000393007.1_Missense_Mutation_p.D210H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Missense_Mutation_p.D209H			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	226						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CCCAGATTTTGACTGGAAGAA	0.498000													20	55					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50885654	50885654	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:50885654G>A	ENST00000380817.3	-	41	5782	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	SBF1_ENST00000348911.6_Missense_Mutation_p.R1842C|SBF1_ENST00000390679.3_Missense_Mutation_p.R1841C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTGTAAACGCGACGCGTTGTC	0.682000													6	28					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31947242	31947242	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:31947242C>A	ENST00000375331.2	+	5	881	c.715C>A	c.(715-717)Cta>Ata	p.L239I	STK19_ENST00000375333.2_Missense_Mutation_p.L243I|STK19_ENST00000463823.1_3'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	243						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCAGAAATTTCTAGCTTCAGT	0.527000													11	35					1.58986e-06	1.64104e-06	1	1	0
SESTD1	91404	broad.mit.edu	37	2	179977518	179977518	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:179977518C>T	ENST00000428443.3	-	17	2210	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	632					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAATTTCATCAAATTGCTCC	0.363000													25	53					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60665613	60665613	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:60665613A>C	ENST00000227524.4	-	14	1476	c.1271T>G	c.(1270-1272)cTt>cGt	p.L424R		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	424					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAAGTTCTTAAGCTTGCGCAG	0.498000													19	26					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53937201	53937201	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:53937201C>A	ENST00000420353.2	-	4	326	c.177G>T	c.(175-177)aaG>aaT	p.K59N	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.K59N|ATF7_ENST00000415113.1_Missense_Mutation_p.K59N|ATF7_ENST00000591397.1_Missense_Mutation_p.K59N|ATF7_ENST00000328463.7_Missense_Mutation_p.K59N|ATF7_ENST00000548118.2_Missense_Mutation_p.K59N|ATF7_ENST00000456903.4_Missense_Mutation_p.K59N|ATF7_ENST00000548446.2_Missense_Mutation_p.K59N	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	59	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CCTCACAGTTCTTCAGGAATC	0.373000											OREG0021875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					1.024e-07	1.06381e-07	1	1	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390630	52390630	+	RNA	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:52390630C>T	ENST00000443374.2	+	0	1819																											ATTTCCCAATCAAACTCTTCA	0.443000													12	24					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42185251	42185251	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:42185251G>A	ENST00000320955.6	-	3	452	c.225C>T	c.(223-225)atC>atT	p.I75I	RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	75	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCGGATCTTGATGCCCGCCT	0.667000													7	21					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32664625	32664625	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:32664625G>A	ENST00000421745.2	+	16	3815	c.3681G>A	c.(3679-3681)gtG>gtA	p.V1227V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1227					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			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)					TCAAGGCAGTGAATGAAAGAG	0.403000													9	15					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42007402	42007402	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:42007402G>A	ENST00000395925.3	-	14	2307	c.2223C>T	c.(2221-2223)ctC>ctT	p.L741L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	741					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGATGGCACTGAGGTCTCCTA	0.537000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				39	98					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861640	45861640	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr21:45861640C>G	ENST00000397928.1	+	32	4897	c.4452C>G	c.(4450-4452)ctC>ctG	p.L1484L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.L1430L|TRPM2_ENST00000397932.2_Silent_p.L1534L|TRPM2_ENST00000300482.5_Silent_p.L1484L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1484	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCATCCCACTCTATGCGAACC	0.642000													12	24					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108926105	108926105	+	Missense_Mutation	SNP	T	T	C	rs144381891		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:108926105T>C	ENST00000228284.3	-	13	1796	c.1562A>G	c.(1561-1563)cAt>cGt	p.H521R	SART3_ENST00000431469.2_Missense_Mutation_p.H485R	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	521					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GGTGTCACCATGAGCTCTAAG	0.562000									Porokeratosis				14	28					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133749216	133749216	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:133749216G>C	ENST00000253861.4	+	18	2889	c.2860G>C	c.(2860-2862)Gag>Cag	p.E954Q	EXOC4_ENST00000545148.1_Missense_Mutation_p.E564Q|EXOC4_ENST00000539845.1_Missense_Mutation_p.E853Q|EXOC4_ENST00000541309.1_Missense_Mutation_p.E242Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	954					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GAGGCTCAAAGAGATCATCTG	0.602000													13	40					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619483	619483	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:619483G>A	ENST00000358353.3	-	12	1606	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	CDHR5_ENST00000397542.2_Silent_p.F428F|CDHR5_ENST00000349570.7_Silent_p.F428F			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	428	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCTCTGCGTAGAAGGCTCCCG	0.602000													37	53					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1962824	1962824	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:1962824C>G	ENST00000382895.3	+	20	3749	c.3318C>G	c.(3316-3318)atC>atG	p.I1106M	WHSC1_ENST00000508803.1_Missense_Mutation_p.I1106M|WHSC1_ENST00000382892.2_Missense_Mutation_p.I1106M|WHSC1_ENST00000382891.5_Missense_Mutation_p.I1106M|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.I454M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1106	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCGAGAATCAAGCACGCAC	0.512000			T	IGH@	MM								27	71					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169500329	169500329	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:169500329C>T	ENST00000349841.5	+	5	1960	c.1297C>T	c.(1297-1299)Cat>Tat	p.H433Y	MYNN_ENST00000392733.1_Missense_Mutation_p.H433Y|MYNN_ENST00000356716.4_Missense_Mutation_p.H433Y|MYNN_ENST00000544106.1_Missense_Mutation_p.H433Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACTGACCTATCATGTCCGTAG	0.413000													18	77					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17337908	17337908	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:17337908G>A	ENST00000215061.4	+	3	396	c.352G>A	c.(352-354)Gat>Aat	p.D118N	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.D118N|OCEL1_ENST00000597836.1_Missense_Mutation_p.D62N	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	118										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TGTGTTTGAGGATGAGTTGCT	0.642000													19	71					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896691	227896691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:227896691G>A	ENST00000396625.3	-	40	3994	c.3787C>T	c.(3787-3789)Cag>Tag	p.Q1263*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.Q1263*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1263	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.Q1263*(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGGTCCCTGATCTCCAGGT	0.547000													8	14					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60511907	60511907	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:60511907C>T	ENST00000360469.5	+	16	2745	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	CDH4_ENST00000543233.1_Missense_Mutation_p.S812F	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	886	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTGAACTCATCCAGTTCCGGG	0.602000													25	26					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	635797	635797	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:635797G>A	ENST00000406797.1	-	7	868	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R232W|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R232W|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R232W|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R232W	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	232					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGATGCGCCGGTAGCTGTCC	0.632000													15	53					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98806806	98806806	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:98806806C>G	ENST00000266058.4	-	17	1896	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	SLIT1_ENST00000371070.4_Missense_Mutation_p.E551Q|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	551					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATGGAAATCTCATTGTTATTC	0.408000													18	44					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306318	133306318	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:133306318G>C	ENST00000539605.1	-	10	8928	c.2244C>G	c.(2242-2244)caC>caG	p.H748Q	ANKLE2_ENST00000542657.1_Missense_Mutation_p.H165Q|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.H165Q|ANKLE2_ENST00000357997.5_Missense_Mutation_p.H810Q			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	810						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCTGATCCTCGTGCCTGGGGC	0.582000													4	59					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593841	7593841	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:7593841C>T	ENST00000264079.6	+	9	1244	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	373					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATGAAGATCGGCATCGAGG	0.627000													13	41					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149555	11149555	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:11149555G>C	ENST00000538986.1	-	1	919	c.920C>G	c.(919-921)tCa>tGa	p.S307*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	307					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S307L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTATGGAGTTGACTGGTTCTG	0.413000													11	50					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138742245	138742245	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:138742245C>T	ENST00000389532.4	-	6	935	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E13K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E302K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	291	CH.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTGGAGAATTCTCTCAGAAGC	0.338000													59	30					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96054670	96054670	+	Missense_Mutation	SNP	G	G	A	rs140544829		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:96054670G>A	ENST00000297954.4	+	22	5128	c.5128G>A	c.(5128-5130)Gtc>Atc	p.V1710I	WNK2_ENST00000395477.2_Missense_Mutation_p.V1673I|WNK2_ENST00000349097.3_Missense_Mutation_p.V1322I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Missense_Mutation_p.V37I|WNK2_ENST00000427277.2_Missense_Mutation_p.V1285I	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1710					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGTCCCCAGCGTCCCCCAGGT	0.562000													52	50					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93498674	93498674	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:93498674C>T	ENST00000394196.4	+	15	2809	c.1741C>T	c.(1741-1743)Cat>Tat	p.H581Y	CHD2_ENST00000557381.1_Missense_Mutation_p.H581Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	581	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGAATGGATTCATTCCCAAAC	0.284000													10	36					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52778834	52778834	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:52778834G>A	ENST00000396947.3	+	2	376	c.210G>A	c.(208-210)gtG>gtA	p.V70V	FST_ENST00000256759.3_Silent_p.V70V	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	70	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AGGAGGACGTGAATGACAACA	0.592000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209479	44209479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:44209479G>A	ENST00000260665.7	-	2	301	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	LRPPRC_ENST00000409946.1_Nonsense_Mutation_p.Q82*|LRPPRC_ENST00000409659.1_Nonsense_Mutation_p.Q82*	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	82					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAATCAAACTGATTGGAAATC	0.418000													17	28					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38188752	38188752	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:38188752C>G	ENST00000373048.4	-	10	1920	c.1921G>C	c.(1921-1923)Gat>Cat	p.D641H	EPHA10_ENST00000540011.1_Missense_Mutation_p.D136H|EPHA10_ENST00000330210.7_Missense_Mutation_p.D136H|EPHA10_ENST00000427468.2_Missense_Mutation_p.D641H|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	641						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTTTCGCATCCAGTTCCTTG	0.602000													4	29					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43221099	43221099	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:43221099C>T	ENST00000259750.4	+	4	410	c.327C>T	c.(325-327)ctC>ctT	p.L109L	TTBK1_ENST00000304139.5_Silent_p.L58L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	109	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGATGCAGCTCCAGGTGAGTC	0.572000													4	41					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563939	8563939	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:8563939C>T	ENST00000423345.4	-	2	1273	c.753G>A	c.(751-753)caG>caA	p.Q251Q	PRAM1_ENST00000255612.3_Silent_p.Q251Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	299	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGAGGGGAGTCTGAGCGGCCT	0.622000													16	28					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452825	48452825	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:48452825G>A	ENST00000393271.2	+	2	338	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	EME1_ENST00000511648.2_Missense_Mutation_p.E86K|EME1_ENST00000338165.4_Missense_Mutation_p.E86K	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	86					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GCTAAGCAGTGAAAGTGAAGA	0.473000								Direct reversal of damage;Homologous recombination					18	55					0	0	1	0	0
TMBIM1	64114	broad.mit.edu	37	2	219144770	219144770	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:219144770C>T	ENST00000444881.1	-	4	1007	c.282G>A	c.(280-282)gtG>gtA	p.V94V	PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Silent_p.V94V|TMBIM1_ENST00000258412.3_Silent_p.V94V|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000445635.1_5'UTR			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	94						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTGTGTCGCACTTTCCGGT	0.582000													17	32					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704598	46704598	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:46704598C>T	ENST00000454366.1	+	4	732	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	155					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAGCCCCTTGCTGGGGCCCCC	0.592000													32	86					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228491619	228491619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:228491619C>A	ENST00000570156.2	+	52	14056	c.13982C>A	c.(13981-13983)tCa>tAa	p.S4661*	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S1351*|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3704	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGAACCTCAGCTACACTC	0.537000													20	66					1.00905e-13	1.08337e-13	1	1	0
PRSS8	5652	broad.mit.edu	37	16	31144160	31144160	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:31144160G>C	ENST00000317508.6	-	4	644	c.381C>G	c.(379-381)ctC>ctG	p.L127L	PRSS8_ENST00000568261.1_Silent_p.L73L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	127	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGCCCTCCTGGAGGTAGCTGG	0.627000													43	112					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183245324	183245324	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:183245324G>C	ENST00000511685.1	+	2	274	c.151G>C	c.(151-153)Gat>Cat	p.D51H	TENM3_ENST00000406950.2_Missense_Mutation_p.D51H					teneurin transmembrane protein 3																		GAAAGCTTTTGATCATGATTC	0.498000													11	49					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10992796	10992796	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:10992796G>C	ENST00000324288.8	+	5	506	c.373G>C	c.(373-375)Gat>Cat	p.D125H	CIITA_ENST00000381835.5_Missense_Mutation_p.D125H|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	125	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CATAGGACCAGATGAAGTGAT	0.498000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								21	58					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55078163	55078163	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:55078163C>G	ENST00000302250.2	-	5	956	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.E266Q	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	266						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TTTCACCTCTCAGATTGGCTC	0.607000													8	18					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562807	22562807	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:22562807G>A	ENST00000419308.2	-	2	1257	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	FOXA2_ENST00000377115.4_Missense_Mutation_p.P352L	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	358					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTGGTGGGGCGGGCCCAGCAG	0.721000													2	1					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102110539	102110539	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:102110539G>A	ENST00000549872.1	+	4	787	c.597G>A	c.(595-597)gtG>gtA	p.V199V	CHPT1_ENST00000229266.3_Silent_p.V199V|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	199					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGCTTTAGTGATTGTCTTTG	0.313000													27	27					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110354	7110354	+	Translation_Start_Site	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:7110354G>A	ENST00000306904.5	+	1	190	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	1						nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCAAACATGGTTGAAGCGG	0.647000													4	13					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239666	160239666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:160239666C>T	ENST00000610273.1	+	16	1375	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	PNLDC1_ENST00000392167.3_Nonsense_Mutation_p.R413*	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GAACCTCATCCGAGCGGGGGT	0.577000													4	33					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751714	40751714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:40751714C>T	ENST00000561234.1	+	2	1310	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	BAHD1_ENST00000416165.1_Nonsense_Mutation_p.Q351*|BAHD1_ENST00000560846.1_Nonsense_Mutation_p.Q351*			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	351	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCACACCTCAGCTGTCGCC	0.642000													27	63					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591258	111591258	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:111591258G>T	ENST00000304987.3	+	11	1725	c.1552G>T	c.(1552-1554)Gat>Tat	p.D518Y	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	518					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCTGAGTATGATATGGGGTC	0.458000													4	60					0.0215528	0.0216428	1	1	0
PIK3C3	5289	broad.mit.edu	37	18	39593533	39593533	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr18:39593533C>A	ENST00000262039.4	+	11	1384	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	PIK3C3_ENST00000398870.3_Missense_Mutation_p.S370Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	433					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTGTCAAATTCTGGAATAAAT	0.333000										TSP Lung(28;0.18)			21	67					3.62473e-10	3.82346e-10	1	1	0
CXXC1	30827	broad.mit.edu	37	18	47811486	47811486	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr18:47811486G>A	ENST00000285106.6	-	7	1512	c.798C>T	c.(796-798)gtC>gtT	p.V266V	CXXC1_ENST00000589940.1_Silent_p.V266V|CXXC1_ENST00000412036.2_Silent_p.V266V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	266	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GAGGCTCCTTGACTGTTGATG	0.602000													21	45					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152722425	152722425	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:152722425C>G	ENST00000367255.5	-	47	7478	c.6877G>C	c.(6877-6879)Gaa>Caa	p.E2293Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2293Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2300Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2300Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2330Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2293					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCTACTTCAGTTATTTCT	0.358000										HNSCC(10;0.0054)			32	48					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194147905	194147905	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:194147905G>C	ENST00000439040.1	-	29	3815	c.3024C>G	c.(3022-3024)ttC>ttG	p.F1008L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.F1008L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1008					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACAAAACGGAGAAGAGAAGGG	0.408000													16	51					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91692809	91692809	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:91692809G>A	ENST00000375835.4	-	3	861	c.555C>T	c.(553-555)atC>atT	p.I185I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	185	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGACGCGGCTGATGGCTTCCC	0.473000													19	25					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674577	36674577	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:36674577G>C	ENST00000355114.5	-	5	1137	c.411C>G	c.(409-411)ttC>ttG	p.F137L	ZNF565_ENST00000304116.5_Missense_Mutation_p.F97L|ZNF565_ENST00000392173.2_Missense_Mutation_p.F97L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTCCCAGTTGAATGCCCCGA	0.413000													51	128					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581984	40581984	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:40581984G>A	ENST00000450241.2	-	6	574	c.263C>T	c.(262-264)tCa>tTa	p.S88L	ZNF780A_ENST00000595687.2_Missense_Mutation_p.S122L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.S123L|ZNF780A_ENST00000340963.5_Missense_Mutation_p.S122L|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S123L			O75290	Z780A_HUMAN	zinc finger protein 780A	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTATATTCTGAGTCATTTCT	0.348000													15	40					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155886440	155886440	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:155886440G>C	ENST00000368320.3	-	12	1554	c.1529C>G	c.(1528-1530)tCa>tGa	p.S510*	KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.S510*			Q7Z7F0	K0907_HUMAN	KIAA0907	510										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTCTTTGCCTGAGGAACTTGC	0.408000													42	89					0	0	1	0	0
LOC202181	202181	broad.mit.edu	37	5	177059138	177059138	+	RNA	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:177059138G>C	ENST00000515045.1	-	0	790					NR_026921.1																						GGTTGAGTTAGAGCTGGTAGT	0.552000													14	19					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919950	4919950	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:4919950C>T	ENST00000433855.1	+	1	1609	c.743C>T	c.(742-744)tCc>tTc	p.S248F	KCNA6_ENST00000280684.3_Missense_Mutation_p.S248F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	248						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCGGGGGCTCCTCCTCACTC	0.557000										HNSCC(72;0.22)			19	58					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107353041	107353041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:107353041G>T	ENST00000265715.3	+	20	2517	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	SLC26A4_ENST00000543100.1_Nonsense_Mutation_p.E334*|SLC26A4_ENST00000541474.1_Nonsense_Mutation_p.E326*|SLC26A4_ENST00000544569.1_Nonsense_Mutation_p.E352*	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	765					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAGCTGACGGAAGAAGAACT	0.318000									Pendred syndrome				18	48					1.33834e-09	1.40862e-09	1	1	0
DBNDD1	79007	broad.mit.edu	37	16	90075285	90075285	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:90075285C>T	ENST00000392973.3	-	2	975	c.244G>A	c.(244-246)Gac>Aac	p.D82N	DBNDD1_ENST00000304733.3_Missense_Mutation_p.D96N|DBNDD1_ENST00000568838.1_Missense_Mutation_p.D196N|DBNDD1_ENST00000002501.6_Missense_Mutation_p.D76N			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	76						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCAGTGAGGTCCAGGAGGTCG	0.632000													9	6					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958349	53958349	+	RNA	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:53958349C>G	ENST00000454407.1	+	0	1041							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAATAATTTCTGGAATTCTT	0.378000													33	83					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406963	2406963	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:2406963G>A	ENST00000381223.4	-	2	2001	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L	ZBED1_ENST00000381218.3_Silent_p.L600L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.L600L|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	600						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGGCAGCAGGGGGAAGAGG	0.647000													22	68					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1131643	1131643	+	Silent	SNP	C	C	T	rs149535499	byFrequency	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:1131643C>T	ENST00000397092.1	+	3	1163	c.279C>T	c.(277-279)atC>atT	p.I93I	GPER1_ENST00000297469.3_Silent_p.I93I|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397088.3_Silent_p.I93I|GPER1_ENST00000401670.1_Silent_p.I93I|C7orf50_ENST00000488073.1_Intron	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	93																	AGATGACCATCCCCGACCTGT	0.572000													20	48					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44303928	44303928	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:44303928G>A	ENST00000262915.3	+	6	631	c.454G>A	c.(454-456)Gag>Aag	p.E152K	ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E67K|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.E67K|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.E83K|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.E83K|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E83K|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.E67K|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E137K|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.E67K|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.E83K|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.E83K|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.E82K|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.E82K|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.E98K|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.E98K|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E137K|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.E83K|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E121K|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E121K|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E98K|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E83K|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E67K|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.E67K|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E152K|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E83K|ST3GAL3_ENST00000372374.2_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	83					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				AAACTTTTCAGAGGGAGCTTG	0.527000													47	191					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70253224	70253224	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:70253224G>C	ENST00000609923.1	-	5	623	c.525C>G	c.(523-525)ttC>ttG	p.F175L	SLC25A16_ENST00000265870.3_Intron|SLC25A16_ENST00000539557.1_Missense_Mutation_p.F77L	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16						coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AAATTGTTTTGAAAGCATGAA	0.348000													12	38					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625829	154625829	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:154625829G>A	ENST00000260010.6	+	1	3178	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	590					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GGACAGCACTGGTGTCTGGCA	0.562000													13	61					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23724562	23724562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr18:23724562G>T	ENST00000308268.6	+	2	231	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	PSMA8_ENST00000415576.2_Nonsense_Mutation_p.E48*|PSMA8_ENST00000343848.6_Intron	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	48					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TCTTGGGGTAGAAAAAAAATC	0.363000													19	45					2.4624e-09	2.57481e-09	1	1	0
SP2	6668	broad.mit.edu	37	17	45993647	45993647	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:45993647C>G	ENST00000376741.4	+	3	347	c.210C>G	c.(208-210)atC>atG	p.I70M	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	70					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TTGTCCCTATCAAACCTGCCC	0.537000													39	104					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121411261	121411261	+	Missense_Mutation	SNP	G	G	A	rs142391650		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:121411261G>A	ENST00000369085.3	+	1	380	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	25	WW 1.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TTGCCCCCCGGATGGGAGATC	0.692000													6	12					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968168	69968168	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:69968168C>T	ENST00000299293.2	+	10	1470	c.960C>T	c.(958-960)gtC>gtT	p.V320V	FRS2_ENST00000397997.2_Silent_p.V320V|FRS2_ENST00000549921.1_Silent_p.V320V|FRS2_ENST00000550389.1_Silent_p.V320V	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	320					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCTCAGGGGTCAGGAGAGGTC	0.428000													22	41					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101760068	101760068	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:101760068C>T	ENST00000251127.6	-	21	2518	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	813						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGCTTGCTCCTTTTTTTCC	0.403000													19	37					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138283031	138283031	+	Silent	SNP	C	C	T	rs140171020	byFrequency	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:138283031C>T	ENST00000394817.2	-	10	1300	c.1161G>A	c.(1159-1161)gcG>gcA	p.A387A	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000509534.1_Silent_p.A394A|SIL1_ENST00000265195.5_Silent_p.A387A	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	387					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCGGGCAGCGCCAGGAGGT	0.662000									Marinesco-Sjgren syndrome				19	13					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410488	139410488	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:139410488C>G	ENST00000277541.6	-	10	1689	c.1614G>C	c.(1612-1614)aaG>aaC	p.K538N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	538	EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCACCATTCTTGCAGGGGG	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	15					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93636994	93636994	+	Silent	SNP	C	C	T	rs142936514	by1000genomes	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:93636994C>T	ENST00000375754.4	+	9	1192	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	SYK_ENST00000375747.1_Silent_p.Y325Y|SYK_ENST00000375751.4_Silent_p.Y325Y|SYK_ENST00000375746.1_Silent_p.Y348Y	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	348	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CAGAGGTGTACGAGAGCCCCT	0.572000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								75	93					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462783	48462783	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:48462783G>C	ENST00000358536.4	-	8	1933	c.1664C>G	c.(1663-1665)tCa>tGa	p.S555*	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.S555*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.S555*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.S555*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	555					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTGGCACTGATAGGAAAAC	0.582000													17	65					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136321315	136321315	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:136321315G>C	ENST00000371929.3	+	26	4137	c.3693G>C	c.(3691-3693)gaG>gaC	p.E1231D	ADAMTS13_ENST00000371910.1_Missense_Mutation_p.E27D|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E1175D|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E1144D|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1231	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCGTCCTTGAGAGTTCTCTCA	0.632000													24	20					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42932117	42932117	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:42932117G>A	ENST00000304611.8	-	17	2968	c.2899C>T	c.(2899-2901)Ctg>Ttg	p.L967L	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	967					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TACCGGAGCAGCTCCTGCTCA	0.637000													7	49					0	0	1	0	0
ARV1	64801	broad.mit.edu	37	1	231132940	231132940	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:231132940C>G	ENST00000310256.2	+	5	804	c.747C>G	c.(745-747)gtC>gtG	p.V249V	ARV1_ENST00000366658.2_Silent_p.V209V	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	249					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		GCATCATGGTCTACTTCTTCC	0.448000													27	71					0	0	1	0	0
FAM216A	29902	broad.mit.edu	37	12	110925686	110925686	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:110925686C>G	ENST00000377673.5	+	6	1153	c.641C>G	c.(640-642)tCt>tGt	p.S214C		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	214																	GGATATGCATCTAAAACAAGA	0.353000													27	81					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583769	10583769	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:10583769C>G	ENST00000304501.1	-	2	724	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	SOX7_ENST00000554914.1_Missense_Mutation_p.E268Q|SOX7_ENST00000553390.1_Missense_Mutation_p.E268Q	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	216					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.E216*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AAGGTCTGCTCCGGCTCCAGC	0.692000													12	21					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167385027	167385027	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:167385027A>G	ENST00000367862.5	+	16	2483	c.2248A>G	c.(2248-2250)Acc>Gcc	p.T750A	POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCACCACCACCGCCTCCAA	0.582000													4	123					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773447	229773447	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:229773447C>G	ENST00000258243.2	+	4	3223	c.3087C>G	c.(3085-3087)ttC>ttG	p.F1029L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1029						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCACCGCATTCCTCTCTAGTT	0.458000													23	57					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764935	184764935	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:184764935C>T	ENST00000367511.3	-	14	2156	c.1963G>A	c.(1963-1965)Gtg>Atg	p.V655M	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	655					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GAAATAATCACCTGCTCAGTC	0.572000													9	51					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3755528	3755528	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:3755528C>T	ENST00000378230.3	-	8	1215	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	297						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTGCACCCACCAGCTCGGCAT	0.542000													34	84					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46817261	46817261	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:46817261C>A	ENST00000529230.1	-	13	1579	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K511N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K511N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K511N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	511					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGAATTCCTTCTTATCAGCAG	0.438000													27	45					4.74835e-14	5.10953e-14	1	1	0
AFP	174	broad.mit.edu	37	4	74308023	74308023	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:74308023G>A	ENST00000395792.2	+	5	593	c.493G>A	c.(493-495)Gag>Aag	p.E165K	AFP_ENST00000226359.2_Missense_Mutation_p.E165K	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	165	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTCATTTATGAGATAGCAAG	0.368000									Alpha-Fetoprotein, Hereditary Persistence of				13	31					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280119	44280119	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:44280119G>C	ENST00000216177.4	-	7	1188	c.1056C>G	c.(1054-1056)ttC>ttG	p.F352L	PNPLA5_ENST00000381198.2_Missense_Mutation_p.F238L|PNPLA5_ENST00000597664.1_Missense_Mutation_p.F352L|PNPLA5_ENST00000593866.1_Missense_Mutation_p.F238L	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	352					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGATGTACTCGAAGGGCAGTG	0.657000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	71					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104460055	104460055	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:104460055G>C	ENST00000229330.4	+	2	378	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	92					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGAATGGTTGAATATGGAAG	0.368000													24	93					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749456	61749456	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:61749456C>G	ENST00000423902.2	+	17	4549	c.4070C>G	c.(4069-4071)tCt>tGt	p.S1357C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1357	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAACCTGATTCTGATAGGTTT	0.478000													33	78					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106746873	106746873	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:106746873G>C	ENST00000515279.1	+	8	1666	c.1446G>C	c.(1444-1446)aaG>aaC	p.K482N	GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.K395N|RP11-45L9.1_ENST00000509003.1_RNA|GSTCD_ENST00000360505.5_Missense_Mutation_p.K482N|GSTCD_ENST00000394728.3_Missense_Mutation_p.K482N|RP11-45L9.1_ENST00000504955.1_RNA			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	482						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCGTGCTAAGAAGAGAAGTG	0.294000													11	68					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16745302	16745302	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:16745302G>C	ENST00000381323.3	-	5	473	c.253C>G	c.(253-255)Ctt>Gtt	p.L85V	FAM49A_ENST00000406434.1_Missense_Mutation_p.L85V|FAM49A_ENST00000355549.2_Missense_Mutation_p.L85V	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	85						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCACAACAAGAGGGCACACC	0.393000													16	27					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542000													33	88					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114209	177114209	+	Missense_Mutation	SNP	A	A	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:177114209A>T	ENST00000280191.2	-	3	475	c.367T>A	c.(367-369)Ttt>Att	p.F123I	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	123					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GGTAATTTAAATTTTTTTCTT	0.289000													22	39					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14094346	14094346	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:14094346C>T	ENST00000254325.4	-	3	615	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	127					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GAACGCCGGTCTGGCTGGCGG	0.697000													4	8					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60499507	60499507	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:60499507G>A	ENST00000360469.5	+	11	1832	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	CDH4_ENST00000543233.1_Missense_Mutation_p.E508K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	582	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAACGTCTACGAGGCCACCTT	0.642000													13	28					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141461422	141461422	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:141461422G>C	ENST00000323570.3	+	6	632	c.500G>C	c.(499-501)aGa>aCa	p.R167T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	167	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					ACAGACTTCAGAGGCATGGGC	0.383000													9	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228412343	228412343	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:228412343G>A	ENST00000570156.2	+	10	3187	c.3113G>A	c.(3112-3114)aGg>aAg	p.R1038K	OBSCN_ENST00000284548.11_Missense_Mutation_p.R946K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R946K|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1038	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCACGCGCAGGCTGGTTGTG	0.637000													17	34					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572409	47572409	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:47572409C>G	ENST00000253048.5	-	14	2375	c.2338G>C	c.(2338-2340)Gag>Cag	p.E780Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	780							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCTCCTCCTCCTCCTGCTGC	0.701000													18	56					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128603586	128603586	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:128603586G>A	ENST00000308982.7	+	2	322	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	81						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTCACTGAAGAGGGTATGTA	0.353000													22	43					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853208	39853208	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:39853208C>G	ENST00000564288.1	+	58	15471	c.14694C>G	c.(14692-14694)ctC>ctG	p.L4898L	MACF1_ENST00000317713.7_Silent_p.L2836L|MACF1_ENST00000545844.1_Silent_p.L2836L|MACF1_ENST00000361689.2_Silent_p.L2836L|MACF1_ENST00000567887.1_Silent_p.L4935L|MACF1_ENST00000289893.4_Silent_p.L3338L|MACF1_ENST00000539005.1_Silent_p.L2815L|MACF1_ENST00000372915.3_Silent_p.L4903L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4903					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATCCAGGCTCAAGGATTGTA	0.428000													24	73					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183472115	183472115	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:183472115C>A	ENST00000305135.5	+	11	1547	c.1352C>A	c.(1351-1353)tCc>tAc	p.S451Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	451					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTGGAAAATCCTTCCAGCCC	0.433000													15	53					2.61681e-11	2.77244e-11	1	1	0
EME1	146956	broad.mit.edu	37	17	48453498	48453498	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:48453498G>C	ENST00000393271.2	+	3	929	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	EME1_ENST00000511648.2_Missense_Mutation_p.E283Q|EME1_ENST00000338165.4_Missense_Mutation_p.E283Q	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	283					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTGTGTGATTGAGGCGCAGGC	0.572000								Direct reversal of damage;Homologous recombination					19	46					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149604	11149604	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:11149604G>A	ENST00000538986.1	-	1	870	c.871C>T	c.(871-873)Ctt>Ttt	p.L291F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	291					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AAAACTGAAAGAAAGGTCTGC	0.408000													22	53					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472779	6472779	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:6472779G>A	ENST00000263125.5	-	17	2057	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L	PRKCQ_ENST00000539722.1_Missense_Mutation_p.P528L|PRKCQ_ENST00000397176.2_Missense_Mutation_p.P590L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	653	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TACCACTTTCGGCCGGAACGG	0.617000													12	33					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751934	40751934	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:40751934C>G	ENST00000561234.1	+	2	1530	c.1271C>G	c.(1270-1272)tCa>tGa	p.S424*	BAHD1_ENST00000416165.1_Nonsense_Mutation_p.S424*|BAHD1_ENST00000560846.1_Nonsense_Mutation_p.S424*			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	424					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TCAGTGCCCTCAGGCACCCCT	0.647000													18	38					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124908112	124908112	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:124908112C>T	ENST00000339992.3	+	1	475	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	73					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGCACGGCCCTAAGGAGCAG	0.692000													9	26					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47277011	47277011	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:47277011C>G	ENST00000335044.2	-	20	2671	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Missense_Mutation_p.E707Q|KIF9_ENST00000265529.3_Missense_Mutation_p.E772Q|KIF9_ENST00000352910.4_3'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.E772Q	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	772					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACCTTCTGCTCTATCTTGACT	0.527000													18	54					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948953	7948953	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:7948953C>G	ENST00000380183.4	+	8	1288	c.1149C>G	c.(1147-1149)gtC>gtG	p.V383V	ALOX15B_ENST00000380173.2_Silent_p.V383V|ALOX15B_ENST00000573359.1_Silent_p.V383V|ALOX15B_ENST00000572022.1_Silent_p.V383V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	383	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGCCTGAGGTCTTCACCCTGG	0.622000													3	21					0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107076805	107076805	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:107076805C>G	ENST00000539449.1	-	1	568	c.92G>C	c.(91-93)aGa>aCa	p.R31T	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.R31T			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	31						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ACTAATCCTTCTAACTGAAGG	0.418000													16	50					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146575225	146575225	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:146575225G>A	ENST00000281317.5	+	6	2109	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	MMAA_ENST00000541599.1_Missense_Mutation_p.R19Q	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	300						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGCCAGCTCGAAGGATACAA	0.418000													30	50					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922519	48922519	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:48922519G>A	ENST00000263269.3	+	8	1852	c.1764G>A	c.(1762-1764)atG>atA	p.M588I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	588						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGTGGGTGATGATGTTCGTCA	0.602000													17	21					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168369851	168369851	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:168369851G>A	ENST00000366806.2	+	33	5436	c.5294G>A	c.(5293-5295)cGg>cAg	p.R1765Q	MLLT4_ENST00000447894.2_Missense_Mutation_p.R1765Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1684Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1772Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1775Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1765					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACGCCTGTCGGGATGCAAAA	0.468000			T	MLL	AL								3	33					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234401	45234401	+	Silent	SNP	A	A	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:45234401A>G	ENST00000066544.3	-	7	813	c.720T>C	c.(718-720)atT>atC	p.I240I	CDC27_ENST00000531206.1_Silent_p.I240I|CDC27_ENST00000446365.2_Silent_p.I179I|CDC27_ENST00000527547.1_Silent_p.I240I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATCAGGTGAAATTACAGCTG	0.358000													3	41					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619365	619365	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:619365G>A	ENST00000358353.3	-	13	1641	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	CDHR5_ENST00000397542.2_Missense_Mutation_p.S440F|CDHR5_ENST00000349570.7_Missense_Mutation_p.S440F			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	440	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGCGGTGCCAGAGGTCACCGT	0.607000													15	8					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230839995	230839995	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:230839995G>A	ENST00000366667.4	-	4	1427	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	405					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TCGGTGTGCAGAATGGCGGGC	0.582000													11	36					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155742960	155742960	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:155742960G>A	ENST00000437809.1	-	18	2514	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L	GON4L_ENST00000361040.5_Silent_p.L798L|GON4L_ENST00000271883.5_Silent_p.L798L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.L798L	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	798					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTGTGGCCAGAATCCAAGCC	0.423000													25	71					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42243997	42243997	+	Silent	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:42243997G>T	ENST00000327628.5	+	13	1897	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	TRAK1_ENST00000341421.3_Silent_p.L441L|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.L425L|TRAK1_ENST00000396175.1_Silent_p.L441L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	499	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGACGGCGCTGAGGCGGCTGT	0.637000													12	14					1.08611e-07	1.12348e-07	1	1	0
CCHCR1	54535	broad.mit.edu	37	6	31116219	31116219	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:31116219C>T	ENST00000396268.3	-	10	1731	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	CCHCR1_ENST00000451521.2_Missense_Mutation_p.E479K|CCHCR1_ENST00000396263.2_Missense_Mutation_p.E426K|CCHCR1_ENST00000376266.5_Missense_Mutation_p.E426K	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	426					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCTGCTCCTCGGCTGAGGCT	0.632000													7	78					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	723349	723349	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:723349C>T	ENST00000533256.1	+	16	1825	c.1450C>T	c.(1450-1452)Cac>Tac	p.H484Y	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.H500Y|EPS8L2_ENST00000530636.1_Missense_Mutation_p.H484Y|EPS8L2_ENST00000318562.8_Missense_Mutation_p.H484Y			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	484						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACATACTCACAGGTAAGC	0.562000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	14					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043465	180043465	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:180043465G>A	ENST00000261937.6	-	23	3199	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	FLT4_ENST00000393347.3_Missense_Mutation_p.R1041W|FLT4_ENST00000502649.1_Missense_Mutation_p.R1041W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1041	Protein kinase.		R -> P (in LMPH1A; loss of kinase activity).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGAATGTTCCGAGCAGCCAGG	0.617000													11	17					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719942	21719942	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:21719942C>T	ENST00000358491.4	+	4	1295	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGGTAATTCATACTGGAGA	0.378000													17	60					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204116	135204116	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:135204116G>C	ENST00000372169.2	-	10	3051	c.2869C>G	c.(2869-2871)Cag>Gag	p.Q957E	SETX_ENST00000393220.1_Missense_Mutation_p.Q957E|SETX_ENST00000224140.5_Missense_Mutation_p.Q957E			Q7Z333	SETX_HUMAN	senataxin	957					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTCTATCTGAGAATCCGTT	0.423000													49	28					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851001	155851001	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:155851001A>G	ENST00000368324.4	+	4	1251	c.998A>G	c.(997-999)aAg>aGg	p.K333R	SYT11_ENST00000539162.1_Missense_Mutation_p.K26R	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	333	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCTTATGTCAAGGTGAACGTC	0.448000													62	153					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2213579	2213579	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:2213579C>T	ENST00000398665.3	+	17	1635	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	533						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGCTCCTCAGCCACTGCC	0.622000													13	43					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	32					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7359255	7359255	+	Translation_Start_Site	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:7359255G>A	ENST00000575379.1	+	0	343				CHRNB1_ENST00000536404.2_Missense_Mutation_p.D382N|CHRNB1_ENST00000576360.1_Missense_Mutation_p.D333N|CHRNB1_ENST00000306071.2_Missense_Mutation_p.D454N			P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)						behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGAGGACCACGATGCGGTATG	0.597000													4	22					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8038618	8038618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:8038618G>A	ENST00000407627.2	-	4	550	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	ELAVL1_ENST00000593807.1_Nonsense_Mutation_p.Q141*|ELAVL1_ENST00000596459.1_Nonsense_Mutation_p.Q141*|ELAVL1_ENST00000351593.5_Nonsense_Mutation_p.Q168*	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	141	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCTGTAGTCTGATCCACGAGG	0.567000													13	42					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099750	184099750	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:184099750C>T	ENST00000204604.1	+	6	887	c.641C>T	c.(640-642)tCa>tTa	p.S214L	CHRD_ENST00000450923.1_Missense_Mutation_p.S214L|CHRD_ENST00000348986.3_Missense_Mutation_p.S214L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	214	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCGCTTCTCAGACTCCAAT	0.607000													9	18					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919422	26919422	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:26919422C>G	ENST00000321765.5	-	3	1172	c.840G>C	c.(838-840)atG>atC	p.M280I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	280					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGAAACCTCATTTCTCTTT	0.468000													21	58					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12200076	12200076	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:12200076T>A	ENST00000379033.3	+	8	1028	c.881T>A	c.(880-882)tTt>tAt	p.F294Y	SEC61A2_ENST00000298428.9_Missense_Mutation_p.F316Y|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Missense_Mutation_p.F316Y	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	316						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGTGGCAACTTTTTAGTAAAT	0.373000													12	88					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15466854	15466854	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:15466854G>C	ENST00000380733.4	-	15	1767	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	PSIP1_ENST00000380738.4_Nonsense_Mutation_p.S475*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	475					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAGAGTCTTTGACCCTTGCGA	0.413000													14	28					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287510	62287510	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:62287510G>C	ENST00000378024.4	-	5	14653	c.14379C>G	c.(14377-14379)ttC>ttG	p.F4793L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4793					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTCCTTTGAAGCCAGGCA	0.517000													52	216					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166218861	166218861	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:166218861G>A	ENST00000226725.6	+	7	1014	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	KLHL2_ENST00000421009.2_Missense_Mutation_p.R155Q|KLHL2_ENST00000506761.1_Missense_Mutation_p.R86Q|KLHL2_ENST00000538127.1_Missense_Mutation_p.R164Q|KLHL2_ENST00000514860.1_Missense_Mutation_p.R256Q|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	252					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTGCTTCCTCGGGAATATTTA	0.438000													21	37					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17150261	17150261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr21:17150261C>T	ENST00000285681.2	+	4	676	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285679.6_Nonsense_Mutation_p.Q103*|USP25_ENST00000400183.2_Nonsense_Mutation_p.Q103*|USP25_ENST00000351097.5_Nonsense_Mutation_p.Q103*	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	103					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGATGATCTTCAGAGAGCAAT	0.343000													15	38					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31066667	31066667	+	Silent	SNP	A	A	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:31066667A>G	ENST00000206595.6	+	7	724	c.570A>G	c.(568-570)acA>acG	p.T190T	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Silent_p.T144T|G2E3_ENST00000553504.1_Silent_p.T220T	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	190					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTAGGTGTACAATATGCAATA	0.303000													37	59					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45497618	45497618	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr21:45497618G>T	ENST00000291574.4	+	11	1597	c.1422G>T	c.(1420-1422)agG>agT	p.R474S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	474					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCATTGGGAGGATTCGATCTG	0.338000													22	54					1.85244e-09	1.94547e-09	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17608118	17608118	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:17608118G>A	ENST00000252595.7	+	7	1148	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	SLC27A1_ENST00000598424.1_Missense_Mutation_p.E172K|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E351K|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	351	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCGGTGCGCGAGGCGGAGAG	0.687000													7	24					0	0	1	0	0
TMBIM1	64114	broad.mit.edu	37	2	219144824	219144824	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:219144824C>T	ENST00000444881.1	-	4	953	c.228G>A	c.(226-228)gaG>gaA	p.E76E	PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Silent_p.E76E|TMBIM1_ENST00000258412.3_Silent_p.E76E|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000445635.1_5'UTR			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	76						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTCTCTCCTCCCCATCAT	0.562000													12	27					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38209922	38209922	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:38209922G>C	ENST00000394126.1	-	1	423	c.5C>G	c.(4-6)tCc>tGc	p.S2C	MED24_ENST00000394127.2_Intron|MED24_ENST00000394128.2_Intron|MED24_ENST00000479829.1_Intron|MED24_ENST00000356271.3_Intron			O75448	MED24_HUMAN	mediator complex subunit 24	0					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TAAAGAAAAGGACATGAGGTT	0.458000													13	34					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40699763	40699763	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:40699763C>G	ENST00000298910.7	+	28	4012	c.3954C>G	c.(3952-3954)atC>atG	p.I1318M		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1318					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCAAAGACATCATAAGGTTAG	0.294000													4	43					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908223	103908223	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:103908223G>A	ENST00000302259.3	+	1	916	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	225					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAACATTGAAGAAAACATGAA	0.473000													45	61					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094963	46094963	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:46094963G>A	ENST00000323040.4	-	2	1106	c.162C>T	c.(160-162)gtC>gtT	p.V54V	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	54						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TCATCAGGTAGACGCCCAGCT	0.632000													17	36					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932305	75932305	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:75932305C>G	ENST00000314852.2	-	2	1148	c.205G>C	c.(205-207)Gac>Cac	p.D69H	IMP3_ENST00000403490.1_Missense_Mutation_p.D69H			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	69	Arg-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CGGAACTGGTCGCGTTCGGGC	0.701000													3	11					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55555414	55555414	+	Splice_Site	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:55555414C>G	ENST00000294383.6	-	55	6554		c.e55-1		USP24_ENST00000407756.1_Splice_Site	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24						ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGTATCAACCCTTTAAAAAAA	0.368000													5	5					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11553282	11553282	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:11553282G>C	ENST00000252455.2	+	7	886	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	PRKCSH_ENST00000592741.1_Missense_Mutation_p.E184Q|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E184Q|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E184Q|PRKCSH_ENST00000587327.1_Missense_Mutation_p.E184Q|PRKCSH_ENST00000589838.1_Missense_Mutation_p.E184Q	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	184					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GGAGGAAGCTGAGAAGCCAGA	0.557000													9	9					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69967983	69967983	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:69967983C>G	ENST00000299293.2	+	10	1285	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	FRS2_ENST00000397997.2_Missense_Mutation_p.Q259E|FRS2_ENST00000549921.1_Missense_Mutation_p.Q259E|FRS2_ENST00000550389.1_Missense_Mutation_p.Q259E	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	259					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AACCCCTGTTCAAAAGCAGTT	0.428000													14	36					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607218	21607218	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:21607218C>T	ENST00000392288.2	+	4	1866	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	ZNF493_ENST00000355504.4_Missense_Mutation_p.S458L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGTGTATTCTCAACCCTTACT	0.353000													13	45					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192561	66192561	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:66192561G>C	ENST00000311034.2	+	7	2376	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	734					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCTGAGGCAGAGGGCCCAGG	0.577000													38	50					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618694	618694	+	Missense_Mutation	SNP	G	G	T	rs71469809		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:618694G>T	ENST00000358353.3	-	14	2187	c.1865C>A	c.(1864-1866)tCc>tAc	p.S622Y	CDHR5_ENST00000397542.2_Missense_Mutation_p.S622Y|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	622	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TGGTTGGTGGGAGGTGCTGGT	0.657000													26	66					4.72057e-08	4.91471e-08	1	1	0
DST	667	broad.mit.edu	37	6	56397222	56397222	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:56397222G>A	ENST00000370754.5	-	64	16934	c.16935C>T	c.(16933-16935)ccC>ccT	p.P5645P	DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Silent_p.P5141P|DST_ENST00000244364.6_Silent_p.P3053P|DST_ENST00000421834.2_Silent_p.P3379P|DST_ENST00000370788.2_Silent_p.P3379P|DST_ENST00000370769.4_Silent_p.P5467P|DST_ENST00000361203.3_Silent_p.P5465P			Q03001	DYST_HUMAN	dystonin	5465					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTATCTGCGGGCTCTGCTG	0.408000													3	16					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38890938	38890938	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:38890938C>G	ENST00000396821.3	-	7	1093	c.994G>C	c.(994-996)Gat>Cat	p.D332H	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.D253H	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	253	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D332H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AACCCCATATCAAGCATTCTG	0.428000													31	68					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11994188	11994188	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:11994188C>G	ENST00000356352.2	-	14	3384	c.2911G>C	c.(2911-2913)Gat>Cat	p.D971H	UPF2_ENST00000397053.2_Missense_Mutation_p.D971H|UPF2_ENST00000357604.5_Missense_Mutation_p.D971H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	971	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAATCTATATCAATAGGAAAT	0.343000													25	49					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46638788	46638788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:46638788C>T	ENST00000181383.4	-	8	807	c.791G>A	c.(790-792)tGg>tAg	p.W264*	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.W227*	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	264					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CCTACCACACCAGTGTTTGGA	0.408000													16	35					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78734976	78734976	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:78734976G>C	ENST00000436010.2	-	8	2142	c.1145C>G	c.(1144-1146)tCt>tGt	p.S382C	ROBO1_ENST00000495273.1_Missense_Mutation_p.S385C|ROBO1_ENST00000464233.1_Missense_Mutation_p.S421C|ROBO1_ENST00000467549.1_Missense_Mutation_p.S385C			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	421	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCAACATCAGATCGCTGGAC	0.403000													5	26					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070329	35070329	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:35070329G>C	ENST00000382002.5	-	7	1008	c.582C>G	c.(580-582)ctC>ctG	p.L194L	PRLR_ENST00000231423.3_Silent_p.L194L|PRLR_ENST00000397391.3_Silent_p.L123L|PRLR_ENST00000310101.5_Silent_p.L194L|PRLR_ENST00000542609.1_Silent_p.L194L|PRLR_ENST00000342362.5_Silent_p.L93L|PRLR_ENST00000513753.1_Silent_p.L194L|PRLR_ENST00000348262.3_Silent_p.L194L|PRLR_ENST00000511486.1_Silent_p.L93L|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	194	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GATGTAGGCTGAGAATCTTAA	0.423000													16	46					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105454804	105454804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:105454804G>C	ENST00000258494.9	-	9	1234	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	ALDH1L2_ENST00000424857.2_Nonsense_Mutation_p.S365*	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	365	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAAGTCTGTTGAGTCTTCAAT	0.433000													26	80					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637914	6637914	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:6637914C>T	ENST00000315579.5	+	26	4168	c.3369C>T	c.(3367-3369)gaC>gaT	p.D1123D	NCAPD2_ENST00000545962.1_Silent_p.D1078D	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1123					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			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						TCCTCAAGGACATGGTGAAGG	0.592000													17	44					0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40953899	40953899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:40953899G>C	ENST00000263368.4	-	5	669	c.518C>G	c.(517-519)tCa>tGa	p.S173*	BLVRB_ENST00000595483.1_Nonsense_Mutation_p.S130*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	173					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GATGACCCTTGAGGGCCCTCG	0.567000													12	45					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35873653	35873653	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:35873653C>A	ENST00000216797.5	-	1	299	c.198G>T	c.(196-198)tgG>tgT	p.W66C	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.W66C	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	66					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GCTGCTGCTTCCAGGGCTCCG	0.716000													5	16					1.23904e-05	1.26267e-05	1	1	0
TMEM87A	25963	broad.mit.edu	37	15	42511811	42511811	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:42511811C>T	ENST00000389834.4	-	17	1771	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Missense_Mutation_p.E442K	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	503						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CCATTGGGTTCTTGTTTGGTA	0.343000													4	13					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428516	57428516	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:57428516G>A	ENST00000371100.4	+	1	748	c.196G>A	c.(196-198)Gag>Aag	p.E66K	GNAS_ENST00000371102.4_Missense_Mutation_p.E66K|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.E66K|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.A2A	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAATGATGGCGAGGCCTGTGG	0.652000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	11					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426852	111426852	+	Silent	SNP	C	C	T	rs143931101		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:111426852C>T	ENST00000393934.3	+	2	813	c.243C>T	c.(241-243)ctC>ctT	p.L81L	PLCXD2_ENST00000477665.1_Silent_p.L81L	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	81	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.L81L(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCAAACGCCTCGCCAGGATCT	0.502000													6	44					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33562402	33562402	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:33562402C>T	ENST00000294517.6	+	9	1435	c.848C>T	c.(847-849)tCg>tTg	p.S283L	ADC_ENST00000373440.1_Missense_Mutation_p.S125L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.S283L|ADC_ENST00000373441.1_Missense_Mutation_p.S283L|ADC_ENST00000373443.3_Missense_Mutation_p.S283L|ADC_ENST00000358680.3_Missense_Mutation_p.S125L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	283					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TACGTGACCTCGGCCTTCACT	0.587000													25	44					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220078184	220078184	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:220078184C>G	ENST00000265316.3	-	11	2012	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	ABCB6_ENST00000439002.2_Missense_Mutation_p.D520H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	566					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAGCAAGTCAAACATGTTC	0.483000													33	64					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68661023	68661023	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:68661023G>C	ENST00000328663.4	-	3	1008	c.542C>G	c.(541-543)tCc>tGc	p.S181C	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.S181C|TAF9_ENST00000217893.5_Missense_Mutation_p.S181C|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		ACCTGTGAGGGACATGGGAGT	0.458000													26	38					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17764770	17764770	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:17764770C>G	ENST00000375436.4	-	2	428	c.241G>C	c.(241-243)Gcg>Ccg	p.A81P	RCC2_ENST00000375433.3_Missense_Mutation_p.A81P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	81					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACCACGGCCGCGCCGCCCGCC	0.786000													3	3					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68661087	68661087	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr5:68661087G>C	ENST00000328663.4	-	3	944	c.478C>G	c.(478-480)Ccc>Gcc	p.P160A	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.P160A|TAF9_ENST00000217893.5_Missense_Mutation_p.P160A|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CCTAGTGTGGGAGTACTTGGT	0.468000													27	61					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49309789	49309789	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:49309789G>C	ENST00000402551.1	-	4	785	c.165C>G	c.(163-165)ctC>ctG	p.L55L	BCAT2_ENST00000598162.1_Silent_p.L95L|BCAT2_ENST00000597011.1_Silent_p.L55L|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000316273.6_Silent_p.L95L|BCAT2_ENST00000599246.1_Intron	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	95						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGGAGTAGTGGAGGCTGGAGG	0.627000													26	67					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109667641	109667641	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:109667641C>G	ENST00000296486.3	-	11	1371	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	ETNPPL_ENST00000512646.1_Missense_Mutation_p.R348T|ETNPPL_ENST00000510706.1_Missense_Mutation_p.R366T|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R400T	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		AAGTACATTTCTATGAGGTCC	0.393000													7	29					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382055	68382055	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:68382055G>A	ENST00000361478.1	-	2	1404	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	PJA1_ENST00000374571.4_Missense_Mutation_p.R288C|PJA1_ENST00000374583.1_Missense_Mutation_p.R343C|PJA1_ENST00000374584.3_Missense_Mutation_p.R155C	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	343	Poly-Arg.						zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GCCATGGTGCGTCGTCGTCTC	0.532000													26	9					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400005	13400005	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:13400005C>T	ENST00000284110.1	-	2	1527	c.730G>A	c.(730-732)Gac>Aac	p.D244N	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.D42N	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	244						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCACCGGGTCCCGCACCACC	0.632000													5	59					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192531	66192531	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:66192531G>C	ENST00000311034.2	+	7	2346	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	724					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGATCCCAGTGAGGAATGGGG	0.592000													39	64					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	105					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13370393	13370393	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:13370393C>T	ENST00000360228.5	-	27	4372	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1459E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1459					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCAGCCTTCTCCCGTGGACAC	0.547000													5	14					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2115850	2115850	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:2115850G>A	ENST00000382203.1	+	25	3694	c.3485G>A	c.(3484-3486)cGc>cAc	p.R1162H	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1162H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1162H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1162H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1162	Helicase C-terminal.				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			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)		CGAGCTCACCGCATCGGGCAG	0.577000													7	10					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108882525	108882525	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:108882525G>A	ENST00000406360.1	+	1	457	c.114G>A	c.(112-114)ccG>ccA	p.P38P	FOXO3_ENST00000343882.6_Silent_p.P38P	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	38					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TGCAAAGGCCGGAGCTCCAAG	0.706000													3	6					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052318	40052318	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:40052318C>T	ENST00000373233.3	-	30	4546	c.4369G>A	c.(4369-4371)Gac>Aac	p.D1457N		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1457					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTATAGAAGTCTGCTTGTTCT	0.393000													12	91					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913751	23913751	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:23913751C>T	ENST00000382298.3	-	10	4852	c.4264G>A	c.(4264-4266)Gtg>Atg	p.V1422M	SACS_ENST00000382292.3_Missense_Mutation_p.V1422M|SACS_ENST00000402364.1_Missense_Mutation_p.V672M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1422					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCTCATGCACCAAAATGATT	0.378000													35	79					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262883	39262883	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:39262883T>G	ENST00000280481.7	+	1	1618	c.1402T>G	c.(1402-1404)Ttg>Gtg	p.L468V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	468					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGCAAAACTTGGTCATCAG	0.587000													18	31					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985377	61985377	+	Nonstop_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr13:61985377C>G	ENST00000409186.1	-	5	4960	c.2855G>C	c.(2854-2856)tGa>tCa	p.*952S	PCDH20_ENST00000409204.4_Nonstop_Mutation_p.*952S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATGAAATATCAAATATTAGA	0.363000													13	28					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183933164	183933164	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:183933164C>G	ENST00000367520.3	-	1	470	c.34G>C	c.(34-36)Gga>Cga	p.G12R	COLGALT2_ENST00000361927.4_Intron|COLGALT2_ENST00000546159.1_Intron					collagen beta(1-O)galactosyltransferase 2																		CCTGAGGATCCAAGAGAGGGA	0.502000													10	25					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820320	50820320	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:50820320C>T	ENST00000374115.3	+	1	1974	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	512					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CGGCGAGCCTCGCAGCCCGCC	0.647000													20	72					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50294401	50294401	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:50294401G>C	ENST00000284509.6	-	8	596	c.455C>G	c.(454-456)tCa>tGa	p.S152*	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S152*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	152					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCACTACTTGATAGGAGAAG	0.308000													14	51					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149889	11149889	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:11149889G>C	ENST00000538986.1	-	1	585	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	196					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L196L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATTAACAGCAGAAAAGATATC	0.428000													35	95					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40268996	40268996	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:40268996G>A	ENST00000263791.5	+	12	2243	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E734K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	734	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CAGCGATGACGAGGACGACGA	0.687000													12	47					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18880971	18880971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:18880971G>A	ENST00000388995.6	-	5	2231	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q670*|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q670*|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	670										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCCGACTCTGGGCCCATGGG	0.652000													6	21					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155319190	155319190	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:155319190C>A	ENST00000368346.3	-	19	8136	c.7497G>T	c.(7495-7497)caG>caT	p.Q2499H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q2494H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2499	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTGAGGATCTGCTTCTCTA	0.418000													19	43					3.99206e-14	4.30534e-14	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133801395	133801395	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:133801395G>A	ENST00000321016.8	-	10	1551	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P441S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	441	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCAGCACAGGGGATAAGTAGC	0.652000													10	25					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8248685	8248685	+	Nonstop_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:8248685G>C	ENST00000339754.5	+	8	905	c.827G>C	c.(826-828)tGa>tCa	p.*276S		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	0					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		GTCCAGTTCTGAATGGCATTG	0.468000													16	40					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845579	44845579	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:44845579C>G	ENST00000372262.3	-	4	1124	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.E242Q	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	242	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATCACCACCTCGTAGCGCTCC	0.657000													21	259					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543856	141543856	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:141543856C>G	ENST00000442267.2	-	21	3368	c.3294G>C	c.(3292-3294)aaG>aaC	p.K1098N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1098						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCCTTTCTTGGGGAAGA	0.667000													7	23					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152279482	152279482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:152279482C>T	ENST00000243326.5	+	7	1195	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q238*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q238*|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q238*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q238*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTCAGAACTTCAGAAGCTATT	0.308000													5	20					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052327	40052327	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:40052327C>T	ENST00000373233.3	-	30	4537	c.4360G>A	c.(4360-4362)Gaa>Aaa	p.E1454K		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1454					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTGCTTGTTCTCTCCTAGTC	0.398000													10	81					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47039404	47039404	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:47039404C>T	ENST00000377604.3	+	10	1769	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	RBM10_ENST00000345781.6_Missense_Mutation_p.R266C|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.R266C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	343	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCAACTGAACCGCGGCTTTGC	0.662000													8	14					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607496	21607496	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:21607496C>T	ENST00000392288.2	+	4	2144	c.2035C>T	c.(2035-2037)Cat>Tat	p.H679Y	ZNF493_ENST00000355504.4_Missense_Mutation_p.H551Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H551Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCATACTGAAGA	0.348000													12	51					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203681094	203681094	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:203681094G>C	ENST00000357681.5	+	13	3161	c.2038G>C	c.(2038-2040)Gat>Cat	p.D680H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.D680H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D680H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D668H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D680H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	680					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			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)			ATAGGTGCCAGATGCTATTGC	0.512000													30	75					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40349155	40349155	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:40349155G>A	ENST00000316891.5	-	1	23	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TRIT1_ENST00000372818.1_Silent_p.S3S|TRIT1_ENST00000544981.1_Silent_p.S3S|TRIT1_ENST00000441669.2_Silent_p.S3S	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	3					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCCGCCACGGACGCCATCT	0.642000													4	22					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412726	130412726	+	Splice_Site	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:130412726C>T	ENST00000370904.1	-	18	2634		c.e18-1		IGSF1_ENST00000370903.3_Splice_Site|IGSF1_ENST00000361420.3_Splice_Site|IGSF1_ENST00000370910.1_Splice_Site			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1						regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATGACTATTTCTAGAAACAGC	0.562000													20	15					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128392212	128392212	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:128392212G>C	ENST00000389524.4	+	41	5645	c.5592G>C	c.(5590-5592)ttG>ttC	p.L1864F	MYO7B_ENST00000428314.1_Missense_Mutation_p.L1863F|MYO7B_ENST00000409090.1_Missense_Mutation_p.L716F|MYO7B_ENST00000409816.2_Missense_Mutation_p.L1863F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1863	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTGATTCCTTGAGGGAGGTGT	0.597000													7	11					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552384	21552384	+	Silent	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:21552384G>T	ENST00000281523.2	-	4	926	c.408C>A	c.(406-408)acC>acA	p.T136T	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	136	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGATGGTATTGGTAGTGATGG	0.463000													12	54					2.68362e-12	2.87488e-12	1	1	0
TAS2R20	259295	broad.mit.edu	37	12	11149644	11149644	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:11149644G>T	ENST00000538986.1	-	1	830	c.831C>A	c.(829-831)ttC>ttA	p.F277L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	277					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AAATCAGAATGAATGAGTGGA	0.398000													23	53					5.35356e-11	5.65948e-11	1	1	0
ALDH1A3	220	broad.mit.edu	37	15	101434206	101434206	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:101434206C>T	ENST00000329841.5	+	6	1117	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	195					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CACCCGCCCTCTGCTGTGGGA	0.582000													33	90					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410353	32410353	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:32410353G>A	ENST00000395388.2	+	2	320	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.E71K	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	71	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CTGGCGGCTTGAAGAATTTGG	0.463000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				36	69					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30685642	30685642	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:30685642C>T	ENST00000394670.4	+	3	458	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	ZNF207_ENST00000342555.6_Missense_Mutation_p.L100F|ZNF207_ENST00000577908.1_Missense_Mutation_p.L97F|ZNF207_ENST00000394673.2_Missense_Mutation_p.L97F|ZNF207_ENST00000321233.6_Missense_Mutation_p.L97F|ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACGACGACTTCTTGAACAGAA	0.323000													18	60					0	0	1	0	0
FIGLA	344018	broad.mit.edu	37	2	71012655	71012655	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:71012655C>G	ENST00000332372.6	-	3	505	c.501G>C	c.(499-501)aaG>aaC	p.K167N		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	167					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						CCTCTTCATTCTTCAAGCCGA	0.493000													78	127					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644886	70644886	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:70644886G>T	ENST00000298596.6	+	3	1417	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V	STOX1_ENST00000399169.4_Missense_Mutation_p.G445V|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.G335V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	445						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TTTCAGCCAGGAAGCATTAGA	0.498000													29	67					7.26314e-15	7.90401e-15	1	1	0
LYRM1	57149	broad.mit.edu	37	16	20927023	20927023	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:20927023G>A	ENST00000396052.2	+	4	546	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	LYRM1_ENST00000569023.1_Missense_Mutation_p.R49Q|LYRM1_ENST00000568663.1_Missense_Mutation_p.R49Q|LYRM1_ENST00000567954.1_Missense_Mutation_p.R49Q|LYRM1_ENST00000219168.4_Missense_Mutation_p.R49Q|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000439021.1_Missense_Mutation_p.R49Q|LYRM1_ENST00000562740.1_Intron			O43325	LYRM1_HUMAN	LYR motif containing 1	49						nucleus				large_intestine(1)|prostate(1)	2						ACGCTGTTCCGGAAAAACAAA	0.418000													10	31					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306230	38306230	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:38306230C>T	ENST00000374618.3	+	4	344	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.H56Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H56Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H63Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H56Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	56	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTATTGTGTTCACAAACCAGA	0.458000													33	76					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40053961	40053961	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:40053961C>T	ENST00000373233.3	-	29	4380	c.4203G>A	c.(4201-4203)ctG>ctA	p.L1401L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1401					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAACAGTGACCAGACGTCTGA	0.537000													25	35					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150169	11150169	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:11150169G>A	ENST00000538986.1	-	1	305	c.306C>T	c.(304-306)ctC>ctT	p.L102L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	102					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AAAATATGCTGAGGCTAGTAG	0.358000													29	70					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003569	119003569	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:119003569C>G	ENST00000298472.5	+	3	352	c.209C>G	c.(208-210)tCc>tGc	p.S70C	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	70					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CACACTGCCTCCATCTCAGAC	0.498000													18	26					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57007338	57007338	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:57007338C>T	ENST00000200676.3	+	9	976	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CETP_ENST00000566128.1_Silent_p.F217F|CETP_ENST00000379780.2_Intron	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	282					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ACTTCTGGTTCTCTGAGCGAG	0.587000													15	46					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220440005	220440005	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:220440005C>T	ENST00000243786.2	+	2	1038	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	286					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCCCAGTTTCATCTTCCACT	0.607000													21	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076110	9076110	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:9076110G>T	ENST00000397910.4	-	3	11539	c.11336C>A	c.(11335-11337)tCt>tAt	p.S3779Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3780	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCCTATAGAGAAGGGCAA	0.527000													45	107					8.20599e-20	8.97064e-20	1	1	0
IRF3	3661	broad.mit.edu	37	19	50164058	50164058	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:50164058C>G	ENST00000597198.1	-	7	1391	c.1010G>C	c.(1009-1011)gGa>gCa	p.G337A	IRF3_ENST00000600911.1_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.G191A|IRF3_ENST00000596765.1_Missense_Mutation_p.G64A|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.G337A|IRF3_ENST00000377135.4_Missense_Mutation_p.G210A|IRF3_ENST00000593922.1_Missense_Mutation_p.G191A|IRF3_ENST00000309877.7_Missense_Mutation_p.G337A|IRF3_ENST00000601291.1_Silent_p.R342R|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600022.1_Missense_Mutation_p.G64A|IRF3_ENST00000599144.1_Missense_Mutation_p.G191A|IRF3_ENST00000599223.1_Missense_Mutation_p.G210A			Q14653	IRF3_HUMAN	interferon regulatory factor 3	337	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGTGAGCGTCCGCTTCCTTC	0.592000													6	7					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539061	95539061	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:95539061C>A	ENST00000297591.5	-	8	1486	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.A471S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.A471S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	471					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTCCTTGAGCCCCACATTCT	0.423000													6	92					1.06961e-07	1.1088e-07	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59429625	59429625	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:59429625C>T	ENST00000288235.4	-	28	3680	c.3281G>A	c.(3280-3282)cGa>cAa	p.R1094Q		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1094	SH3.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGCTTGCCTCGTAGTCGACC	0.592000													10	26					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75694307	75694307	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:75694307C>T	ENST00000394947.3	-	10	1726	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.R471Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.R471Q	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	471	Interaction with REST (By similarity).|Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AAGAGCCTTTCGGACCTTATG	0.483000													21	30					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53426598	53426598	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:53426598C>G	ENST00000322213.4	-	16	2602	c.2475G>C	c.(2473-2475)aaG>aaC	p.K825N		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	825					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCAGTTGGTTCTTTTCAAAAT	0.403000													14	12					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604799	58604799	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:58604799C>T	ENST00000287275.1	-	4	648	c.258G>A	c.(256-258)gaG>gaA	p.E86E	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.E86E	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	86						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACAGGACTTCCTCTAATTTGT	0.363000													32	79					0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17169484	17169484	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:17169484C>A	ENST00000593360.1	-	7	2355	c.337G>T	c.(337-339)Gca>Tca	p.A113S	HAUS8_ENST00000448593.2_Missense_Mutation_p.A173S|HAUS8_ENST00000253669.5_Missense_Mutation_p.A174S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	174					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TTCTTTTCTGCCCTTCTTTCA	0.478000													4	42					0.00024832	0.00025252	1	1	0
ANO1	55107	broad.mit.edu	37	11	69950122	69950122	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:69950122G>C	ENST00000355303.5	+	4	863	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ANO1_ENST00000530676.1_Missense_Mutation_p.E70D|ANO1_ENST00000398543.2_Missense_Mutation_p.E70D|ANO1_ENST00000316296.5_Missense_Mutation_p.E158D|ANO1_ENST00000538023.1_Missense_Mutation_p.E186D	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	186					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACATTAATGAGACCCGTGGCC	0.527000													4	11					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108773704	108773704	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:108773704C>G	ENST00000232603.5	-	14	1283	c.1201G>C	c.(1201-1203)Gtt>Ctt	p.V401L	MORC1_ENST00000483760.1_Missense_Mutation_p.V401L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	401					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTATATTAACAATTCCAACC	0.333000													11	55					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62932202	62932202	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:62932202G>C	ENST00000393630.3	+	19	2672	c.2281G>C	c.(2281-2283)Gat>Cat	p.D761H	MON2_ENST00000546600.1_Missense_Mutation_p.D761H|MON2_ENST00000393629.2_Missense_Mutation_p.D761H|MON2_ENST00000552738.1_Missense_Mutation_p.D738H|MON2_ENST00000280379.6_Missense_Mutation_p.D761H|MON2_ENST00000552115.1_Missense_Mutation_p.D761H|MON2_ENST00000393632.2_Missense_Mutation_p.D761H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	761					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGGTATCTTGATGATGTATC	0.294000													11	27					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128480200	128480200	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:128480200G>C	ENST00000322313.4	-	14	1641	c.1483C>G	c.(1483-1485)Cct>Gct	p.P495A		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	495					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTGCATAAGGAACTTTCTTC	0.408000													21	62					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558965	228558965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:228558965C>A	ENST00000570156.2	+	105	23431	c.23357C>A	c.(23356-23358)tCg>tAg	p.S7786*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S6829*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S4463*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6829	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCGGCCCTCGGCCAGCCTG	0.721000													3	8					1	1	1	1	0
APBB1IP	54518	broad.mit.edu	37	10	26789960	26789960	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:26789960G>C	ENST00000376236.4	+	5	828	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E125Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	125					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGCCAATATGAGGATGACTT	0.488000													37	106					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48505529	48505529	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:48505529G>C	ENST00000412052.1	+	10	2155	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	ATRIP_ENST00000346691.4_Missense_Mutation_p.E658Q|ATRIP_ENST00000357105.6_Missense_Mutation_p.E531Q|ATRIP_ENST00000320211.3_Missense_Mutation_p.E658Q	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	658					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGAACAAGAGGTAAAAAC	0.517000								Other conserved DNA damage response genes					21	81					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124338144	124338144	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:124338144C>T	ENST00000287394.5	-	26	4098	c.3991G>A	c.(3991-3993)Gag>Aag	p.E1331K	ATAD2_ENST00000521903.1_Missense_Mutation_p.E649K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTAATCGCTCATGATCCACA	0.428000													19	41					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1073685	1073685	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:1073685C>A	ENST00000313093.2	+	5	894	c.663C>A	c.(661-663)ttC>ttA	p.F221L	HMHA1_ENST00000543365.1_Missense_Mutation_p.F104L|HMHA1_ENST00000586866.1_Missense_Mutation_p.F225L|HMHA1_ENST00000536472.1_Missense_Mutation_p.F61L|HMHA1_ENST00000590214.1_Missense_Mutation_p.F248L|HMHA1_ENST00000539243.2_Missense_Mutation_p.F237L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCGAGTTCCTCATGGGTG	0.672000													9	11					1.12685e-05	1.15078e-05	1	1	0
HNF1A	6927	broad.mit.edu	37	12	121431982	121431982	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:121431982G>A	ENST00000257555.6	+	4	955	c.729G>A	c.(727-729)caG>caA	p.Q243Q	HNF1A_ENST00000541395.1_Silent_p.Q243Q|HNF1A_ENST00000400024.2_Silent_p.Q243Q|HNF1A_ENST00000544413.1_Silent_p.Q243Q|HNF1A_ENST00000543427.1_Silent_p.Q126Q|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.Q243Q			P20823	HNF1A_HUMAN	HNF1 homeobox A	243					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AATGCATCCAGAGAGGGGTGT	0.607000									Hepatic Adenoma, Familial Clustering of				4	11					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127697827	127697827	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:127697827G>C	ENST00000368695.1	+	10	1068	c.946G>C	c.(946-948)Gac>Cac	p.D316H	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.D322H	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	322						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CAGAGTTTTTGACAGACAGGT	0.413000													36	111					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049007	90049007	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:90049007C>T	ENST00000330947.2	+	5	1158	c.798C>T	c.(796-798)gtC>gtT	p.V266V	LRRC8B_ENST00000439853.1_Silent_p.V266V|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.V266V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	266						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAGTCAAAGTCATTTTGTTTG	0.358000													22	39					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377821	18377821	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:18377821C>T	ENST00000392413.4	-	3	744	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	KIAA1683_ENST00000600359.3_Missense_Mutation_p.E131K|KIAA1683_ENST00000600328.3_Missense_Mutation_p.E177K	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGTTCTCTTCCGGATGCTGG	0.582000													9	26					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829777	106829777	+	RNA	SNP	C	C	G	rs11546807		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:106829777C>G	ENST00000390616.2	-	0	216																											GCTGGCGGATCCAGCTCCAGT	0.572000													9	53					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29003924	29003924	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:29003924G>T	ENST00000524189.1	-	18	2196	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T	KIF13B_ENST00000521515.1_Missense_Mutation_p.P720T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	720					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGGAGGCTGGAATCTGTAGG	0.423000													9	33					0.00829132	0.00836085	1	1	0
MAST1	22983	broad.mit.edu	37	19	12951877	12951877	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:12951877G>A	ENST00000251472.4	+	3	284	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	MAST1_ENST00000591495.1_Missense_Mutation_p.R78Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	82					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCTCCTCCCGAAGGTGAGTC	0.632000													16	38					0	0	1	0	0
DPY30	84661	broad.mit.edu	37	2	32249296	32249296	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:32249296G>C	ENST00000342166.5	-	5	372	c.257C>G	c.(256-258)tCt>tGt	p.S86C	DPY30_ENST00000295066.3_Missense_Mutation_p.S86C			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	86					endosome transport|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|trans-Golgi network	protein homodimerization activity			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					TAAAAGATAAGATGCTAGAAA	0.313000													5	20					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043208	49043208	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:49043208A>C	ENST00000343546.4	+	7	1623	c.1255A>C	c.(1255-1257)Agc>Cgc	p.S419R	P4HTM_ENST00000383729.4_Splice_Site	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	356	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTGCCTTACAGCTACATGAC	0.547000													10	51					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901795	40901795	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:40901795C>T	ENST00000324001.7	-	7	2734	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	822					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCACCCGCCTCGCCTGGCTTG	0.597000													33	54					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268852	57268852	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:57268852G>C	ENST00000339475.5	-	5	771	c.495C>G	c.(493-495)atC>atG	p.I165M	OTX2_ENST00000555006.1_Missense_Mutation_p.I157M|OTX2_ENST00000408990.3_Missense_Mutation_p.I157M|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	157					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACAGTGGGGAGATGGAAGCTG	0.542000													7	17					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46846401	46846401	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:46846401C>T	ENST00000393382.3	-	15	2767	c.2626G>A	c.(2626-2628)Gca>Aca	p.A876T	TTLL6_ENST00000433608.2_Missense_Mutation_p.A569T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	828						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCTGTATGCTTCTTGATCC	0.527000													12	72					0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2097550	2097550	+	Silent	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:2097550C>G	ENST00000381482.3	+	3	1402	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	STK35_ENST00000246032.3_Silent_p.L244L|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	377	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCCCATCCTCAAAGTGGCCG	0.517000													22	42					0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116656300	116656300	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:116656300T>A	ENST00000227322.3	-	6	694	c.635A>T	c.(634-636)cAg>cTg	p.Q212L		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	212					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		ATCATCTTTCTGAGGAGCATG	0.463000													28	22					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111518	41111518	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr19:41111518C>T	ENST00000308370.7	+	6	851	c.851C>T	c.(850-852)tCg>tTg	p.S284L	LTBP4_ENST00000396819.3_Missense_Mutation_p.S217L|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.S247L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	284					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGATGCCTCGGGCTTCGGT	0.756000													6	11					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177908882	177908882	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:177908882G>A	ENST00000308284.6	-	18	2247	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	720					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAGTAGGATGAGGATCCCCA	0.403000													4	5					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6196420	6196420	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:6196420C>G	ENST00000306177.5	+	16	3835	c.3677C>G	c.(3676-3678)tCt>tGt	p.S1226C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1226	Lys-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCAGCGTGCTCTGACGCTGAC	0.453000													9	20					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34395007	34395007	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:34395007C>A	ENST00000397766.2	+	1	734	c.275C>A	c.(274-276)cCt>cAt	p.P92H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	92										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACCGGCACACCTGGCAGAAAA	0.418000													17	38					3.52763e-06	3.61789e-06	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4032499	4032499	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:4032499G>C	ENST00000337659.6	+	2	848	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E236Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	250	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCGATCTCAAGAGAAAATTGG	0.348000													31	95					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505142	151505142	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr4:151505142C>T	ENST00000317605.4	+	1	2066	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	321					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCACTACTTTCTGCCCAACCT	0.622000													6	27					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452684	48452684	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:48452684G>C	ENST00000393271.2	+	2	197	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	EME1_ENST00000511648.2_Missense_Mutation_p.E39Q|EME1_ENST00000338165.4_Missense_Mutation_p.E39Q	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	39					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GAGACAGCCTGAAAGGGAAGA	0.468000								Direct reversal of damage;Homologous recombination					24	48					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													3	41					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10130183	10130183	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:10130183G>C	ENST00000287647.3	+	35	3610	c.3517G>C	c.(3517-3519)Gag>Cag	p.E1173Q	FANCD2_ENST00000383806.1_Missense_Mutation_p.E1173Q|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1173Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1173Q|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1173					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGGGATAAAGAGAAGAGCAA	0.433000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	45					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67974065	67974065	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:67974065G>A	ENST00000264005.5	-	6	1094	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	355					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCGTGTAGGGGAAGCCGTGGT	0.647000													49	94					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462741	48462741	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:48462741G>A	ENST00000358536.4	-	8	1975	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S569F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S569F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S569F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	569					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAAGTGGCAGGAATATGACTC	0.607000													19	95					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64808374	64808374	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:64808374G>A	ENST00000422803.1	+	8	2820	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238855.7_Missense_Mutation_p.D836N|AFTPH_ENST00000409183.1_Missense_Mutation_p.D467N|AFTPH_ENST00000409933.1_Missense_Mutation_p.D836N|AFTPH_ENST00000238856.4_Intron			Q6ULP2	AFTIN_HUMAN	aftiphilin	836					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCCCGTGGATGACAGTAGCTC	0.463000													4	7					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108469071	108469071	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:108469071C>G	ENST00000263054.6	-	7	1060	c.1053G>C	c.(1051-1053)caG>caC	p.Q351H	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q351H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	351						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTACAGTTCTGCATTCGGC	0.403000													14	41					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56457003	56457003	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:56457003G>T	ENST00000370754.5	-	49	12786	c.12787C>A	c.(12787-12789)Caa>Aaa	p.Q4263K	DST_ENST00000312431.6_Missense_Mutation_p.Q4083K|DST_ENST00000446842.2_Missense_Mutation_p.Q3759K|DST_ENST00000244364.6_Missense_Mutation_p.Q1671K|DST_ENST00000421834.2_Missense_Mutation_p.Q1997K|DST_ENST00000370788.2_Missense_Mutation_p.Q1997K|DST_ENST00000370769.4_Missense_Mutation_p.Q4085K|DST_ENST00000361203.3_Missense_Mutation_p.Q4083K			Q03001	DYST_HUMAN	dystonin	4083					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATTGCCTTTGAAGATTTTTG	0.443000													3	13					0.004672	0.00472108	1	1	0
ATP6V0C	527	broad.mit.edu	37	16	2569364	2569364	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:2569364C>T	ENST00000564543.1	+	2	1228	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.H58Y|ATP6V0C_ENST00000565223.1_Silent_p.L32L|ATP6V0C_ENST00000330398.4_Silent_p.L75L|ATP6V0C_ENST00000564973.1_Silent_p.L32L																							TGGCAGTCCTCATCGCCAACT	0.622000													11	36					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958366	122958366	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:122958366G>A	ENST00000543897.1	-	12	3443	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S212F|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.S601F|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S363F			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	601						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TGTCACCTCAGAGTCTGGACT	0.478000													58	157					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689063	45689063	+	Splice_Site	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr22:45689063C>G	ENST00000216211.4	+	5	605	c.573C>G	c.(571-573)ctC>ctG	p.L191L	UPK3A_ENST00000396082.2_Splice_Site_p.V70V	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	191					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCACCACAGTCACCCCATACT	0.657000													7	25					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734576	47734576	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:47734576C>G	ENST00000371828.3	-	11	1509	c.1022G>C	c.(1021-1023)gGa>gCa	p.G341A	STAU1_ENST00000371856.2_Missense_Mutation_p.G416A|STAU1_ENST00000360426.4_Missense_Mutation_p.G335A|STAU1_ENST00000347458.5_Missense_Mutation_p.G335A|STAU1_ENST00000371792.1_Missense_Mutation_p.G333A|STAU1_ENST00000371802.1_Missense_Mutation_p.G341A|STAU1_ENST00000340954.7_Missense_Mutation_p.G335A	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	416	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGGAAGAATTCCAGCAGGCAG	0.522000													35	82					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201983049	201983049	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:201983049G>C	ENST00000359651.3	+	7	4090	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	ELF3_ENST00000367283.3_Missense_Mutation_p.E300Q|ELF3_ENST00000367284.5_Missense_Mutation_p.E300Q|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	300					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GAATCGGCATGAAGGCGTCTT	0.587000													3	16					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105213	100105213	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chrX:100105213G>A	ENST00000372966.3	-	9	1265	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.H317Y|NOX1_ENST00000217885.5_Missense_Mutation_p.H354Y	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	354	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCTCGGATATGAATGGAGAAG	0.468000													13	13					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619682	619682	+	Splice_Site	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr11:619682G>A	ENST00000358353.3	-	11	1500	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	CDHR5_ENST00000397542.2_Splice_Site_p.S393L|CDHR5_ENST00000349570.7_Splice_Site_p.S393L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	393	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACTCTCTACCGAGAACTCCGG	0.662000													13	15					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673764	3673764	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:3673764G>C	ENST00000344754.4	-	14	3522	c.3523C>G	c.(3523-3525)Ctg>Gtg	p.L1175V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1175V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1175					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTCAGGCGCAGGTTGCGGGGC	0.677000													4	17					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102553590	102553590	+	Silent	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:102553590C>T	ENST00000393772.2	-	11	1377	c.951G>A	c.(949-951)ctG>ctA	p.L317L	FBXL13_ENST00000379305.3_Silent_p.L317L|FBXL13_ENST00000436908.1_Silent_p.L317L|LRRC17_ENST00000339431.4_5'UTR|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000379308.3_Silent_p.L317L|FBXL13_ENST00000313221.4_Silent_p.L317L|FBXL13_ENST00000455112.2_Silent_p.L317L|FBXL13_ENST00000456695.1_Silent_p.L317L|FBXL13_ENST00000379306.3_Silent_p.L317L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	317										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCCCCAAGTTCAGGTACTGTA	0.468000													12	46					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548602	20548602	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:20548602G>A	ENST00000329697.6	-	14	1880	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	ACSM2B_ENST00000565322.1_Missense_Mutation_p.S492F|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S571F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S571F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	571					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCTTTTCCGGACATCTTCCA	0.458000													65	190					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136683834	136683834	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:136683834G>A	ENST00000354570.3	-	11	1690	c.1280C>T	c.(1279-1281)cCa>cTa	p.P427L	MAP7_ENST00000438100.2_Missense_Mutation_p.P412L|MAP7_ENST00000432797.2_Missense_Mutation_p.P281L|MAP7_ENST00000454590.1_Missense_Mutation_p.P449L|MAP7_ENST00000544465.1_Missense_Mutation_p.P412L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	427	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ggccatggctggagcAGCTGC	0.572000													3	24					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72769090	72769090	+	Silent	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:72769090G>C	ENST00000357814.3	-	4	352	c.279C>G	c.(277-279)ctC>ctG	p.L93L	NAT9_ENST00000580632.1_Silent_p.L92L|NAT9_ENST00000583757.1_Silent_p.L92L|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000582524.1_Silent_p.L93L|NAT9_ENST00000582870.1_Silent_p.L97L|NAT9_ENST00000583476.1_Silent_p.L93L|NAT9_ENST00000578822.1_Silent_p.L98L|NAT9_ENST00000581136.1_Silent_p.L93L|NAT9_ENST00000580301.1_Silent_p.L92L	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	93	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CTGTGAGGAAGAGGTTCACAT	0.577000													6	28					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90610455	90610455	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:90610455C>T	ENST00000268154.4	+	2	337	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			GGCCTGGTCTCCGAAAATGAG	0.647000													4	14					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102732923	102732923	+	Silent	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr10:102732923G>A	ENST00000210633.3	+	2	240	c.162G>A	c.(160-162)caG>caA	p.Q54Q	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Silent_p.Q54Q|SEMA4G_ENST00000517724.1_Silent_p.Q54Q			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	54	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCCAAGCCCAGAACTACTCAA	0.632000													15	25					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99048352	99048352	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:99048352G>A	ENST00000436336.2	+	5	592	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	CPSF4_ENST00000441580.1_Missense_Mutation_p.R91Q|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Missense_Mutation_p.R112Q|CPSF4_ENST00000292476.5_Missense_Mutation_p.R144Q|ATP5J2-PTCD1_ENST00000437572.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	144					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGGCACACACGGAGAGTCATC	0.577000													12	80					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052332	40052332	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr20:40052332C>T	ENST00000373233.3	-	30	4532	c.4355G>A	c.(4354-4356)aGg>aAg	p.R1452K		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1452					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGTTCTCTCCTAGTCCACCT	0.393000													11	76					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130742408	130742408	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr9:130742408G>C	ENST00000373095.1	-	1	384	c.9C>G	c.(7-9)ttC>ttG	p.F3L		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	3										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCTTCATCAAGAAAGCCATGA	0.527000													36	46					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10707742	10707742	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:10707742G>A	ENST00000379568.3	+	8	1126	c.835G>A	c.(835-837)Gat>Aat	p.D279N		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	279					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GCTTAAGCAGGATAAGGTCAG	0.363000													16	41					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30980885	30980885	+	Silent	SNP	G	G	T			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr17:30980885G>T	ENST00000318217.5	-	19	2875	c.2571C>A	c.(2569-2571)gtC>gtA	p.V857V	MYO1D_ENST00000579584.1_Silent_p.V857V|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.V769V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	857						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGAAAAGAGGACATTCATGT	0.418000													9	26					0.00448238	0.004539	1	1	0
MACF1	23499	broad.mit.edu	37	1	39853542	39853542	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr1:39853542C>A	ENST00000564288.1	+	58	15805	c.15028C>A	c.(15028-15030)Cag>Aag	p.Q5010K	MACF1_ENST00000317713.7_Missense_Mutation_p.Q2948K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q2948K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q2948K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q5047K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q3450K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q2927K|MACF1_ENST00000372915.3_Missense_Mutation_p.Q5015K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5015					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAATGACTCAGAGGCTCAG	0.473000													22	39					1.55795e-14	1.69158e-14	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	57006946	57006946	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:57006946C>G	ENST00000179765.5	-	6	1097	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	BAZ2A_ENST00000379441.3_Missense_Mutation_p.E302Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.E332Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.E330Q			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	332					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGGCTGTCCTCAAGAGGCAGC	0.478000													41	102					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352584	168352584	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr6:168352584G>A	ENST00000366806.2	+	30	4671	c.4529G>A	c.(4528-4530)aGt>aAt	p.S1510N	MLLT4_ENST00000344191.4_Missense_Mutation_p.S1510N|MLLT4_ENST00000447894.2_Missense_Mutation_p.S1510N|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1510N|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1493N|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1517N|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1509N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1510					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCGGGGGACAGTCTGTCCCCC	0.602000			T	MLL	AL								18	32					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222429100	222429103	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr2:222429100_222429103delACTC	ENST00000281821.2	-	3	212_215	c.171_174delGAGT	c.(169-174)gtgagtfs	p.VS57fs	EPHA4_ENST00000392071.4_Frame_Shift_Del_p.VS6fs|EPHA4_ENST00000409854.1_Frame_Shift_Del_p.VS57fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.VS57fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	57						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATCCATGATACTCACTTCCTCCC	0.422													8	80	---	---	---	---					
RBM5	10181	broad.mit.edu	37	3	50154787	50154788	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr3:50154787_50154788insTC	ENST00000347869.3	+	24	2472_2473	c.2297_2298insTC	c.(2296-2301)tgtcaafs	p.Q767fs	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	767	G-patch.|Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACGAAAGTGTCAAGGCATTA	0.540													36	91	---	---	---	---					
ZNF273	10793	broad.mit.edu	37	7	64388421	64388423	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:64388421_64388423delTGT	ENST00000476120.1	+	4	786_788	c.715_717delTGT	c.(715-717)tgtdel	p.C239del	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_In_Frame_Del_p.C174del	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATGTAAGACATGTGGAAAAGCCT	0.340													17	74	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151917708	151917708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr7:151917708delC	ENST00000355193.2	-	23	3830	c.3612delG	c.(3610-3612)ttgfs	p.L1204fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.L1204fs					lysine (K)-specific methyltransferase 2C																		TCTTCAATTTCAATTTTGGTT	0.433													18	55	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													3	4	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													4	4	---	---	---	---					
LINC00051	619434	broad.mit.edu	37	8	143287467	143287467	+	RNA	DEL	G	G	-			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr8:143287467delG	ENST00000517704.1	+	0	101					NR_024378.1																						GACAGCGGAaggggcaggggc	0.632													2	4	---	---	---	---					
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	RNA	INS	-	-	T	rs57593482		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													9	4	---	---	---	---					
MYO1H	283446	broad.mit.edu	37	12	109858794	109858795	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr12:109858794_109858795insA	ENST00000310903.5	+	16	1664_1665	c.1558_1559insA	c.(1558-1560)gaafs	p.E520fs	MYO1H_ENST00000431443.2_Frame_Shift_Ins_p.E530fs			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.N522fs*9(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGGATTCTTGGAAAAAAACAAT	0.302													7	37	---	---	---	---					
CKB	1152	broad.mit.edu	37	14	103987694	103987696	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr14:103987694_103987696delGCT	ENST00000348956.2	-	5	914_916	c.557_559delAGC	c.(556-561)cagctc>ctc	p.Q186del		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	186	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCGTCGATGAGCTGCTGCTGCTC	0.695													8	12	---	---	---	---					
CTD-2184D3.5	0	broad.mit.edu	37	15	52388055	52388056	+	RNA	DEL	AG	AG	-	rs58524153		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr15:52388055_52388056delAG	ENST00000558607.1	-	0	54																											aacattaaacagagttaccatg	0.332													3	5	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183628	+	RNA	DEL	TTTT	TTTT	-	rs11296516		TCGA-2F-A9KT-01A-11D-A38G-08	TCGA-2F-A9KT-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a4d3f88-7b08-46cb-a542-b7d3bd68bf09	fc9e67f6-2ed2-4f86-a0f1-2d81899923eb	g.chr16:81183625_81183628delTTTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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						TTGTTCACACtttttttttttttt	0.466													2	4	---	---	---	---