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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	26					0	0	0.004672	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093900	100093900	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100093900C>T	ENST00000284320.5	-	7	1637	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	397					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TTCTGAGGATCGATGTCAGCA	0.443000													47	84					0	0	0.003610	0	0
ABLIM3	22885	broad.mit.edu	37	5	148626086	148626086	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:148626086G>C	ENST00000506113.1	+	16	2010	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	ABLIM3_ENST00000356541.3_Missense_Mutation_p.D399H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.D477H|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.D510H|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000326685.7_Missense_Mutation_p.D415H|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.D399H			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	510					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGATGATTTTGACCG	0.502000													20	3					0	0	0.008871	0	0
FYB	2533	broad.mit.edu	37	5	39127888	39127888	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:39127888T>C	ENST00000351578.6	-	11	2052	c.1862A>G	c.(1861-1863)gAt>gGt	p.D621G	FYB_ENST00000512982.1_Missense_Mutation_p.D621G|FYB_ENST00000540520.1_Missense_Mutation_p.D631G|FYB_ENST00000515010.1_Missense_Mutation_p.D621G|FYB_ENST00000505428.1_Missense_Mutation_p.D621G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	621					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AATGTCATCATCTGGTGGTGG	0.323000													13	18					0	0	0.002450	0	0
OTOGL	283310	broad.mit.edu	37	12	80771649	80771649	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:80771649G>A	ENST00000458043.2	+	58	6862	c.6856G>A	c.(6856-6858)Ggc>Agc	p.G2286S	OTOGL_ENST00000547103.1_Missense_Mutation_p.G2274S|OTOGL_ENST00000546620.1_Missense_Mutation_p.G305S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCTTGTGACGGCAAATGCCC	0.343000													11	6					0	0	0.000978	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	49					0	0	0.001984	0	0
SLC41A2	84102	broad.mit.edu	37	12	105238389	105238389	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:105238389T>A	ENST00000258538.3	-	9	1524	c.1397A>T	c.(1396-1398)aAt>aTt	p.N466I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	466						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGCAGACTTATTATTTACTCC	0.254000													4	58					0	0	0.000602	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500015	48500015	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:48500015T>C	ENST00000396577.3	+	2	314	c.99T>C	c.(97-99)agT>agC	p.S33S	SLC12A1_ENST00000561031.1_Silent_p.S33S|SLC12A1_ENST00000330289.6_Silent_p.S33S|SLC12A1_ENST00000558405.1_Silent_p.S33S|SLC12A1_ENST00000380993.3_Silent_p.S33S	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	33					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGAGAGCAGTGCAGCTGCAG	0.428000													17	22					0	0	0.006122	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26246938	26246938	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26246938C>T	ENST00000244537.4	-	1	321	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	90					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTTTGAGCACGTAGACCACG	0.572000													12	44					0	0	0.001855	0	0
HTR3D	200909	broad.mit.edu	37	3	183756634	183756634	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:183756634G>C	ENST00000382489.3	+	8	1236	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	HTR3D_ENST00000334128.2_Missense_Mutation_p.E237D|HTR3D_ENST00000453435.1_Missense_Mutation_p.E191D|HTR3D_ENST00000428798.2_Missense_Mutation_p.E362D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	412						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGAACACGAGGCCCAGAAGC	0.637000													42	115					0	0	0.002222	0	0
PRKD3	23683	broad.mit.edu	37	2	37520323	37520323	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:37520323G>A	ENST00000379066.1	-	3	1142	c.380C>T	c.(379-381)tCa>tTa	p.S127L	PRKD3_ENST00000234179.2_Missense_Mutation_p.S127L			O94806	KPCD3_HUMAN	protein kinase D3	127					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCATCTGCTGAGGTAATCAG	0.408000													23	60					0	0	0.002299	0	0
PRDM9	56979	broad.mit.edu	37	5	23526667	23526667	+	Silent	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:23526667A>T	ENST00000296682.3	+	11	1652	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	490					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTAGAGTGGGAAAAAGAATAA	0.443000										HNSCC(3;0.000094)			12	11					0	0	0.000978	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650590	232650590	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:232650590T>C	ENST00000366630.1	-	2	854	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I166V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGTCACTGATAGTGACATCA	0.502000													130	19					0	0	0.003610	0	0
GRM1	2911	broad.mit.edu	37	6	146755396	146755396	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:146755396C>T	ENST00000361719.2	+	9	3519	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.L1017F|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1017	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCCCTCCTCTCCAGCAGCA	0.652000													36	64					0	0	0.007835	0	0
WDR3	10885	broad.mit.edu	37	1	118497948	118497948	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:118497948A>T	ENST00000349139.4	+	24	2467	c.2420A>T	c.(2419-2421)tAt>tTt	p.Y807F	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	807						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCTTCAGCTTATGTATTAGAG	0.358000													23	3					0	0	0.003330	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													3	43					0	0	0.000248	0	0
COL10A1	1300	broad.mit.edu	37	6	116443007	116443007	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:116443007T>G	ENST00000327673.4	-	2	679	c.272A>C	c.(271-273)cAa>cCa	p.Q91P	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.Q91P|AL121963.1_ENST00000430695.1_Missense_Mutation_p.W130G			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	91	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGGCTCTCCTTGGAGTCCAGG	0.607000													8	66					0	0	0.003080	0	0
PLLP	51090	broad.mit.edu	37	16	57290897	57290897	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57290897G>A	ENST00000219207.5	-	4	623	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PLLP_ENST00000569059.1_Silent_p.F101F	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	159	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						GGTAGCTGAAGAAGGCACTCA	0.582000													36	32					0	0	0.006999	0	0
PARD6G	84552	broad.mit.edu	37	18	77917976	77917976	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:77917976G>A	ENST00000353265.3	-	3	1006	c.809C>T	c.(808-810)tCg>tTg	p.S270L	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	270					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGTGCCGTCCGAGGGCGGTCC	0.701000													5	5					0	0	0.000602	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803540	185803540	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185803540C>G	ENST00000302277.6	+	4	4011	c.3417C>G	c.(3415-3417)acC>acG	p.T1139T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1139						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCTCTCACCAGAACCTCAT	0.537000													43	66					0	0	0.002222	0	0
PTCH2	8643	broad.mit.edu	37	1	45293266	45293266	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:45293266G>A	ENST00000447098.2	-	15	2190	c.2179C>T	c.(2179-2181)Ctg>Ttg	p.L727L	PTCH2_ENST00000372192.3_Silent_p.L727L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	727					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGGCGCTCAGGAAGGCATGC	0.637000									Basal Cell Nevus syndrome				32	8					0	0	0.002836	0	0
CDH23	64072	broad.mit.edu	37	10	73405728	73405728	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:73405728C>T	ENST00000224721.6	+	12	1301	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y	CDH23_ENST00000461841.3_Silent_p.Y472Y|CDH23_ENST00000398809.4_Silent_p.Y427Y|CDH23_ENST00000398842.3_Silent_p.Y427Y|CDH23_ENST00000299366.7_Silent_p.Y472Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	427	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACCGCTACGACTTTGATG	0.587000													17	2					0	0	0.007413	0	0
ST18	9705	broad.mit.edu	37	8	53126796	53126796	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:53126796T>C	ENST00000276480.7	-	7	705	c.22A>G	c.(22-24)Aaa>Gaa	p.K8E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGCAGCGTTTTATCTTCAGCC	0.428000													58	68					0	0	0.003610	0	0
PFAS	5198	broad.mit.edu	37	17	8172074	8172074	+	Silent	SNP	C	C	T	rs150119860		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:8172074C>T	ENST00000314666.6	+	27	3739	c.3606C>T	c.(3604-3606)taC>taT	p.Y1202Y	PFAS_ENST00000545834.1_Silent_p.Y778Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGGCGCTACGAGTCTCGCT	0.701000													38	5					0	0	0.007835	0	0
ZNF845	91664	broad.mit.edu	37	19	53854072	53854072	+	Splice_Site	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:53854072T>A	ENST00000458035.1	+	4	261	c.142_splice	c.e4-1	p.D48_splice	ZNF845_ENST00000595091.1_Splice_Site_p.D48_splice	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTTCTAGATATCTCTTCCA	0.338000													12	92					0	0	0.000978	0	0
KCNH7	90134	broad.mit.edu	37	2	163280005	163280005	+	Silent	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:163280005A>T	ENST00000332142.5	-	9	2094	c.1995T>A	c.(1993-1995)atT>atA	p.I665I	KCNH7_ENST00000328032.4_Silent_p.I658I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	665					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTCTTTGGATAATTGCAGATA	0.418000													51	57					0	0	0.003610	0	0
CRIM1	51232	broad.mit.edu	37	2	36691694	36691694	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:36691694G>C	ENST00000280527.2	+	5	1254	c.887G>C	c.(886-888)gGc>gCc	p.G296A		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	296					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGTCTCTCTGGCTTATGTGGT	0.493000													67	106					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141359174	141359174	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:141359174T>A	ENST00000389484.3	-	42	7805	c.6834A>T	c.(6832-6834)agA>agT	p.R2278S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2278					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCCCAGGCTCTGTGATAGG	0.448000										TSP Lung(27;0.18)			6	47					0	0	0.001168	0	0
ATG14	22863	broad.mit.edu	37	14	55878478	55878478	+	Silent	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:55878478C>A	ENST00000247178.5	-	1	98	c.63G>T	c.(61-63)ccG>ccT	p.P21P		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	21					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCCGGGCGAGCGGCCGGGGCC	0.701000													7	8					8.12818e-05	9.31767e-05	0.001984	1	0
SCNN1B	6338	broad.mit.edu	37	16	23382771	23382771	+	Silent	SNP	C	C	T	rs148438164	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:23382771C>T	ENST00000343070.2	+	6	1208	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	SCNN1B_ENST00000568923.1_Silent_p.I317I|SCNN1B_ENST00000568085.1_Silent_p.I344I|SCNN1B_ENST00000307331.5_Silent_p.I389I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	344					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGACGTCCATCGGGGTACTCG	0.642000													9	23					0	0	0.008291	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524198	42524198	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:42524198C>G	ENST00000381668.5	-	22	2157	c.1926G>C	c.(1924-1926)gaG>gaC	p.E642D	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E627D	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	642					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACTCATAACTCTCTTCGAGTT	0.433000													87	13					0	0	0.003610	0	0
AZGP1	563	broad.mit.edu	37	7	99565809	99565809	+	Silent	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:99565809C>A	ENST00000411734.1	-	3	578	c.573G>T	c.(571-573)ctG>ctT	p.L191L	AZGP1_ENST00000292401.4_Silent_p.L194L			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	194					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCTGTATTTCAGGTATTTCC	0.547000													37	44					1.836e-18	2.25895e-18	0.003755	1	0
ZNF382	84911	broad.mit.edu	37	19	37118397	37118397	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:37118397C>G	ENST00000435416.1	+	3	3090	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	ZNF382_ENST00000423582.1_Nonsense_Mutation_p.S484*|ZNF382_ENST00000292928.2_Nonsense_Mutation_p.S533*|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.S532*			Q96SR6	ZN382_HUMAN	zinc finger protein 382	533	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTTGTAAGTCAAACCTCATT	0.383000													16	26					0	0	0.004990	0	0
FAM83H	286077	broad.mit.edu	37	8	144808950	144808950	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:144808950G>C	ENST00000388913.3	-	5	2806	c.2681C>G	c.(2680-2682)aCt>aGt	p.T894S		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	894					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAATCCTGTAGTTGGACTTCC	0.637000													20	22					0	0	0.007413	0	0
WDFY3	23001	broad.mit.edu	37	4	85716037	85716037	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:85716037C>A	ENST00000322366.6	-	20	3670	c.3263G>T	c.(3262-3264)gGt>gTt	p.G1088V	WDFY3_ENST00000295888.4_Missense_Mutation_p.G1088V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1088						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTACCAGAACCAATGCCACT	0.338000													21	19					7.45023e-12	8.93267e-12	0.001523	1	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653215	130653215	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653215C>T	ENST00000373146.1	-	5	584	c.405G>A	c.(403-405)atG>atA	p.M135I	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.M101I|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.M135I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.M135I|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.M101I|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	135					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGCATCATTCATGCGGATTG	0.617000													14	33					0	0	0.003163	0	0
PLBD2	196463	broad.mit.edu	37	12	113810606	113810606	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:113810606G>C	ENST00000280800.3	+	3	568	c.537G>C	c.(535-537)tgG>tgC	p.W179C	PLBD2_ENST00000545182.2_Missense_Mutation_p.W179C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	179					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CACCTTACTGGCACCAGGTGA	0.587000													36	29					0	0	0.003271	0	0
DMXL2	23312	broad.mit.edu	37	15	51809332	51809332	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:51809332G>A	ENST00000251076.5	-	14	2756	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	DMXL2_ENST00000449909.3_Silent_p.S823S|DMXL2_ENST00000543779.2_Silent_p.S823S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	823						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TAGACTGTTGGCTCACAATAT	0.333000													6	136					0	0	0.001168	0	0
WDR78	79819	broad.mit.edu	37	1	67292683	67292683	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:67292683A>G	ENST00000371026.3	-	15	2214	c.2159T>C	c.(2158-2160)tTt>tCt	p.F720S	WDR78_ENST00000431318.1_Missense_Mutation_p.F433S|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	720										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACAGCTTAAAAATACATCATG	0.313000													31	40					0	0	0.004289	0	0
ASB15	142685	broad.mit.edu	37	7	123267298	123267298	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123267298C>A	ENST00000451558.1	+	11	1353	c.832C>A	c.(832-834)Ctt>Att	p.L278I	ASB15_ENST00000275699.3_Missense_Mutation_p.L278I|ASB15_ENST00000451215.1_Missense_Mutation_p.L278I|ASB15_ENST00000540573.1_Missense_Mutation_p.L278I|ASB15_ENST00000434204.1_Missense_Mutation_p.L278I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	278					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGCAGGACATCTTCCTATACA	0.438000													18	23					1.33834e-09	1.58843e-09	0.007413	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124259	142124259	+	RNA	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:142124259A>G	ENST00000390376.2	-	0	218																											CTTTGTCAGTAGTACCAGCAG	0.512000													115	128					0	0	0.003610	0	0
TRAM1	23471	broad.mit.edu	37	8	71487192	71487192	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:71487192C>T	ENST00000521425.1	-	11	1878	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	TRAM1_ENST00000536748.1_Missense_Mutation_p.R336Q|TRAM1_ENST00000262213.2_Missense_Mutation_p.R367Q			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	367	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTTTTTATTCCGGGGAGAGTC	0.294000													18	14					0	0	0.001882	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Splice_Site	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:103022865A>T	ENST00000375735.2	+	21	3091	c.2946_splice	c.e21-1	p.I983_splice	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.I983_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	983	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAACCTTTAGATTTTGCCCTT	0.269000													5	27					0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103143679	103143679	+	Splice_Site	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:103143679T>A	ENST00000428762.1	-	52	8434		c.e52-2		CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAGATCTAATAAACAGA	0.368000													13	38					0	0	0.001368	0	0
BRINP1	1620	broad.mit.edu	37	9	121929496	121929496	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:121929496C>T	ENST00000265922.3	-	8	2613	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		718					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GAGAACAAGTCCAGCTGGGGT	0.542000													6	117					0	0	0.001984	0	0
ATRNL1	26033	broad.mit.edu	37	10	117001476	117001476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:117001476C>T	ENST00000355044.3	+	10	1775	c.1649C>T	c.(1648-1650)gCa>gTa	p.A550V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	550						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTAACGGTGCAAAATGTTTT	0.363000													28	3					0	0	0.005443	0	0
STK10	6793	broad.mit.edu	37	5	171583735	171583735	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:171583735C>T	ENST00000176763.5	-	2	557	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	72	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCCTCCTCACTCTTGGTT	0.547000													54	16					0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	121016697	121016697	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:121016697A>G	ENST00000392793.1	+	12	4248	c.3977A>G	c.(3976-3978)aAc>aGc	p.N1326S	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.N1326S			O75443	TECTA_HUMAN	tectorin alpha	1326					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCTATAAGAACTGCCTGTTT	0.567000													73	103					0	0	0.003610	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	28					0	0	0.000248	0	0
RBCK1	10616	broad.mit.edu	37	20	408138	408138	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:408138T>C	ENST00000356286.5	+	9	1914		c.e9+2		RBCK1_ENST00000353660.3_Splice_Site|RBCK1_ENST00000382181.2_Splice_Site	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1						interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTCTGCAAGGTGGGGCCTGCA	0.572000													4	74					0	0	0.000248	0	0
HTR5A	3361	broad.mit.edu	37	7	154862705	154862705	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:154862705C>T	ENST00000287907.2	+	1	672	c.96C>T	c.(94-96)agC>agT	p.S32S	AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	32						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCGCCCCAGCTCGCCCCTGC	0.607000													23	87					0	0	0.001882	0	0
CHSY3	337876	broad.mit.edu	37	5	129520027	129520027	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:129520027A>G	ENST00000305031.4	+	3	1550	c.1192A>G	c.(1192-1194)Agg>Ggg	p.R398G	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	398						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCCCAACAAAAGGCCTGCATA	0.448000													3	56					0	0	0.000248	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	62					0	0	0.004672	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469638	98469638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:98469638C>T	ENST00000339364.5	-	2	235	c.116G>A	c.(115-117)aGc>aAc	p.S39N		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	39						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TATCTTCTGGCTGCGGACCTG	0.622000													20	16					0	0	0.008871	0	0
ADCK1	57143	broad.mit.edu	37	14	78325478	78325478	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:78325478C>A	ENST00000238561.5	+	4	378	c.279C>A	c.(277-279)ttC>ttA	p.F93L	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	100						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGGCACCTTCATCAAGGTGG	0.622000													51	48					9.52127e-25	1.19652e-24	0.003610	1	0
NFXL1	152518	broad.mit.edu	37	4	47853112	47853112	+	Splice_Site	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:47853112C>A	ENST00000507489.1	-	22	2738	c.2562_splice	c.e22+1	p.Q854_splice	NFXL1_ENST00000381538.3_Splice_Site_p.Q854_splice	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	854						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GTTTGGTTACCTGTTGTCTTC	0.353000													8	21					0.000978159	0.00111586	0.000978	1	0
SUCNR1	56670	broad.mit.edu	37	3	151597696	151597696	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:151597696G>A	ENST00000362032.4	+	2	120		c.e2+1		RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGGGATCATGGTATGTTTAGA	0.343000													28	65					0	0	0.007291	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325613	21325613	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:21325613T>C	ENST00000256958.2	+	3	210	c.114T>C	c.(112-114)ttT>ttC	p.F38F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	38					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACTCAGCTTTATTGCTAAGA	0.368000													11	58					0	0	0.001855	0	0
CAND1	55832	broad.mit.edu	37	12	67699816	67699816	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:67699816C>G	ENST00000545606.1	+	10	2805	c.2368C>G	c.(2368-2370)Ctt>Gtt	p.L790V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	790					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCACAGCTCTTACTCATAA	0.433000													50	44					0	0	0.003610	0	0
OR56A1	120796	broad.mit.edu	37	11	6048216	6048216	+	Missense_Mutation	SNP	G	G	A	rs139301829		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:6048216G>A	ENST00000316650.5	-	1	755	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCACTGCCGCCCCCTCTGC	0.498000													27	20					0	0	0.003954	0	0
PDE1C	5137	broad.mit.edu	37	7	31917639	31917639	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:31917639G>A	ENST00000396184.3	-	6	640	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	PDE1C_ENST00000396193.1_Missense_Mutation_p.R206W|PDE1C_ENST00000396191.1_Missense_Mutation_p.R146W|PDE1C_ENST00000321453.7_Missense_Mutation_p.R146W|PDE1C_ENST00000396182.2_Missense_Mutation_p.R146W	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	146					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTGATGTCCGTCTATACATT	0.343000													8	35					0	0	0.003080	0	0
AGAP5	729092	broad.mit.edu	37	10	75435138	75435138	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:75435138G>A	ENST00000443782.2	-	7	1336	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.T427M			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	427	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTCCTCATACGTCGTGGCTTC	0.512000													125	30					0	0	0.003610	0	0
DEFB123	245936	broad.mit.edu	37	20	30028525	30028525	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30028525G>C	ENST00000376309.3	+	1	204	c.24G>C	c.(22-24)ttG>ttC	p.L8F		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	8					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGACTTTGACTGTGCTGC	0.542000													147	232					0	0	0.003610	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182184	100182184	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:100182184G>A	ENST00000554176.1	+	3	938	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R147Q|CYP46A1_ENST00000261835.3_Missense_Mutation_p.R244Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	244					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CGGGAGGTCCGGGAGAGCATT	0.632000													26	38					0	0	0.008361	0	0
MVB12A	93343	broad.mit.edu	37	19	17535470	17535470	+	Missense_Mutation	SNP	C	C	T	rs143800574		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:17535470C>T	ENST00000317040.7	+	8	1798	c.743C>T	c.(742-744)gCg>gTg	p.A248V	MVB12A_ENST00000543795.1_Missense_Mutation_p.A248V|MVB12A_ENST00000529939.1_Intron|MVB12A_ENST00000392702.2_Missense_Mutation_p.A208V|MVB12A_ENST00000528515.1_3'UTR					multivesicular body subunit 12A																		AAGTCTCTGGCGGACATTGAG	0.662000													7	0					0	0	0.004482	0	0
MGMT	4255	broad.mit.edu	37	10	131565232	131565232	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:131565232T>G	ENST00000306010.7	+	5	720	c.688T>G	c.(688-690)Tcg>Gcg	p.S230A		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	230										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGGAGCTACCTCGGGCTCCCC	0.637000								Direct reversal of damage					9	31					0	0	0.004482	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552137	178552137	+	Missense_Mutation	SNP	C	C	T	rs140022033	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:178552137C>T	ENST00000251582.7	-	19	2896	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	932	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CATGCCTGTCCGCCCACAGGT	0.667000													25	54					0	0	0.003954	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710805	140710805	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140710805G>T	ENST00000517417.1	+	1	554	c.554G>T	c.(553-555)gGa>gTa	p.G185V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G185V	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAACAGGGAGCCGATGGG	0.527000													60	9					1.1362e-29	1.44328e-29	0.003610	1	0
MOS	4342	broad.mit.edu	37	8	57025569	57025569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:57025569C>T	ENST00000311923.1	-	1	972	c.973G>A	c.(973-975)Gcg>Acg	p.A325T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	325	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCTGCGCCGCGCTGGGTCTC	0.632000													18	25					0	0	0.006122	0	0
RNMT	8731	broad.mit.edu	37	18	13737130	13737130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:13737130T>A	ENST00000383314.2	+	5	915	c.675T>A	c.(673-675)tgT>tgA	p.C225*	RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Nonsense_Mutation_p.C225*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.C225*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.C225*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.C225*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	225					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AGCTAGTTTGTACTGGTAAGA	0.343000													17	15					0	0	0.004990	0	0
CACNA1A	773	broad.mit.edu	37	19	13411468	13411468	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:13411468G>A	ENST00000360228.5	-	18	2174	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	CACNA1A_ENST00000573710.2_Silent_p.D726D	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	726				K -> KVEA (in Ref. 1; AAB61613/AAB61612).	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)	CCTCTTGCTCGTCCTAAAAGG	0.493000													5	65					0	0	0.000602	0	0
IFFO1	25900	broad.mit.edu	37	12	6659050	6659050	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:6659050G>T	ENST00000436152.2	-	5	581	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	IFFO1_ENST00000396840.2_Missense_Mutation_p.L315M|IFFO1_ENST00000356896.4_Missense_Mutation_p.L315M|IFFO1_ENST00000336604.4_Missense_Mutation_p.L315M|IFFO1_ENST00000465801.1_Missense_Mutation_p.L8M			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	315						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TTGGTGTCCAGCTCCGACAGG	0.587000													9	9					1.12685e-05	1.31094e-05	0.004482	1	0
RPN2	6185	broad.mit.edu	37	20	35852325	35852325	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:35852325T>G	ENST00000237530.6	+	10	1448	c.1137T>G	c.(1135-1137)gaT>gaG	p.D379E	RPN2_ENST00000373622.5_Missense_Mutation_p.D347E	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	379					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAAATGTTGATCTTTCCACCG	0.488000													3	66					0	0	0.004672	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215088	140215088	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140215088G>A	ENST00000525929.1	+	1	1120	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V374M|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGATTAGCGTGTTTGACCG	0.493000													87	20					0	0	0.003610	0	0
IGKJ3	28948	broad.mit.edu	37	2	89160754	89160754	+	RNA	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:89160754C>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKJ3_ENST00000390240.2_RNA																							ACTTTGGTCCCAGGGCCGAAA	0.393000													6	18					0.00116845	0.0013265	0.001168	1	0
PCMTD1	115294	broad.mit.edu	37	8	52773448	52773448	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52773448T>C	ENST00000360540.5	-	3	670	c.264A>G	c.(262-264)ggA>ggG	p.G88G	PCMTD1_ENST00000522514.1_Silent_p.G88G|PCMTD1_ENST00000521344.1_Silent_p.G88G|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000544451.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	88						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CGGTTCCACTTCCCAGGTTAA	0.333000													3	36					0	0	0.004672	0	0
PEX5L	51555	broad.mit.edu	37	3	179615940	179615940	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:179615940A>C	ENST00000467460.1	-	3	518	c.188T>G	c.(187-189)aTg>aGg	p.M63R	PEX5L_ENST00000263962.8_Missense_Mutation_p.M61R|PEX5L_ENST00000392649.3_Missense_Mutation_p.M20R|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000476138.1_Missense_Mutation_p.M20R|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.M39R|PEX5L_ENST00000464614.1_Missense_Mutation_p.M20R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	63					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGTGATGTCATAGTAAGGAG	0.428000													9	123					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800683	185800683	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185800683C>A	ENST00000302277.6	+	4	1154	c.560C>A	c.(559-561)cCa>cAa	p.P187Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	187						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTGAAGATCCAGAAAGTGCA	0.368000													20	28					1.15919e-05	1.34192e-05	0.008871	1	0
WNK2	65268	broad.mit.edu	37	9	96055448	96055448	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:96055448C>T	ENST00000297954.4	+	23	5812	c.5812C>T	c.(5812-5814)Cgg>Tgg	p.R1938W	WNK2_ENST00000427277.2_Missense_Mutation_p.R1513W|WNK2_ENST00000356055.3_Missense_Mutation_p.R263W|WNK2_ENST00000349097.3_Missense_Mutation_p.R1550W|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R1901W			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1938					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						GCAGAGTCTGCGGGAGAAGTA	0.607000													7	6					0	0	0.001984	0	0
SMG5	23381	broad.mit.edu	37	1	156233237	156233237	+	Silent	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:156233237G>C	ENST00000361813.5	-	13	2124	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	660					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGTCCAGGAAGACTTTCACAG	0.597000													52	67					0	0	0.003610	0	0
METTL20	254013	broad.mit.edu	37	12	31820646	31820646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:31820646C>T	ENST00000357721.3	+	4	726	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	METTL20_ENST00000538391.1_3'UTR|METTL20_ENST00000395763.3_Nonsense_Mutation_p.Q171*|METTL20_ENST00000412352.2_Nonsense_Mutation_p.Q171*|METTL20_ENST00000538463.1_Nonsense_Mutation_p.Q171*	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	171						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						TATTTTAATCCAAAACATTTT	0.328000													25	19					0	0	0.004656	0	0
XKR7	343702	broad.mit.edu	37	20	30584797	30584797	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30584797C>T	ENST00000217299.3	+	3	1451	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	426						integral to membrane		p.A426V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCAGCTTTGCGCTGGGCATA	0.582000													39	40					0	0	0.005524	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546115	178546115	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:178546115A>G	ENST00000432997.1	+	4	729	c.377A>G	c.(376-378)aAg>aGg	p.K126R	RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.K126R|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.K126R|KCNMB2_ENST00000358316.3_Missense_Mutation_p.K126R	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	126					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TCCGGGGAAAAGCTCCTCCTC	0.478000													22	41					0	0	0.001882	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661031	162661031	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:162661031G>A	ENST00000375514.5	+	4	523	c.236G>A	c.(235-237)cGt>cAt	p.R79H	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R68H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R68H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	68					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R68H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACAGGCATCGTGGTCATAAA	0.418000													22	21					0	0	0.002299	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31980046	31980046	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:31980046T>C	ENST00000357886.4	-	5	599	c.446A>G	c.(445-447)gAg>gGg	p.E149G	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.E59G|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E149G			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	149	CDK5 activation inhibition.|MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTCAGCCTTCTCCCTAGAGAG	0.478000													4	86					0	0	0.000602	0	0
MARCH7	64844	broad.mit.edu	37	2	160619499	160619499	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:160619499G>A	ENST00000259050.3	+	8	2124	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	MARCH7_ENST00000409175.1_Missense_Mutation_p.V668I|MARCH7_ENST00000409591.1_Missense_Mutation_p.V630I|MARCH7_ENST00000539065.1_Missense_Mutation_p.V612I	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	668							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAGCACACGTGTCCGAGTAAG	0.413000													5	41					0	0	0.001168	0	0
SPAG9	9043	broad.mit.edu	37	17	49074037	49074037	+	Silent	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:49074037G>T	ENST00000262013.7	-	16	2065	c.1857C>A	c.(1855-1857)gcC>gcA	p.A619A	SPAG9_ENST00000505279.1_Silent_p.A609A|SPAG9_ENST00000357122.4_Silent_p.A605A|SPAG9_ENST00000510283.1_Silent_p.A462A	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	619					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTGCGTGAGGCTAAACTAG	0.408000													18	29					4.63292e-17	5.64112e-17	0.008871	1	0
MRPL1	65008	broad.mit.edu	37	4	78792958	78792958	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:78792958C>T	ENST00000315567.8	+	2	421	c.92C>T	c.(91-93)tCt>tTt	p.S31F		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	31							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TCACTTTGTTCTTGTTCTGTA	0.299000													4	36					0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71780158	71780158	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:71780158C>G	ENST00000258104.3	+	20	2047	c.1770C>G	c.(1768-1770)cgC>cgG	p.R590R	DYSF_ENST00000413539.2_Silent_p.R621R|DYSF_ENST00000394120.2_Silent_p.R591R|DYSF_ENST00000410041.1_Silent_p.R608R|DYSF_ENST00000409366.1_Silent_p.R591R|DYSF_ENST00000409651.1_Silent_p.R622R|DYSF_ENST00000409744.1_Silent_p.R577R|DYSF_ENST00000410020.3_Silent_p.R608R|DYSF_ENST00000429174.2_Silent_p.R590R|DYSF_ENST00000409762.1_Silent_p.R607R|DYSF_ENST00000409582.3_Silent_p.R607R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	590						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTAGGAGGCGCAAGTACTCCC	0.567000													3	55					0	0	0.000602	0	0
ZNF629	23361	broad.mit.edu	37	16	30793689	30793689	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:30793689G>A	ENST00000262525.4	-	3	2167	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCAGCCCCCGCCTCTGGCTG	0.657000													3	7					0	0	0.004672	0	0
NRXN1	9378	broad.mit.edu	37	2	50149151	50149151	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:50149151C>A	ENST00000404971.1	-	24	5914	c.4575G>T	c.(4573-4575)gaG>gaT	p.E1525D	NRXN1_ENST00000342183.5_Missense_Mutation_p.E420D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1477D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1485D|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1455D|NRXN1_ENST00000401710.1_Missense_Mutation_p.E473D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1455D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1477D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1455					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGGTTGTTTCTCCTTTACAA	0.413000													33	47					8.16721e-17	9.89327e-17	0.002096	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632000													21	40					0	0	0.008871	0	0
MMP20	9313	broad.mit.edu	37	11	102479679	102479679	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:102479679T>G	ENST00000260228.2	-	5	812	c.800A>C	c.(799-801)cAg>cCg	p.Q267P	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	267					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GTATAATGCCTGGATCCCTTT	0.433000													23	67					0	0	0.003330	0	0
LARP6	55323	broad.mit.edu	37	15	71125421	71125421	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:71125421G>T	ENST00000299213.8	-	3	516	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	149	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CAAAGCATGTGCTGTGGTTCT	0.483000													36	65					2.75727e-19	3.41031e-19	0.004878	1	0
TTN	7273	broad.mit.edu	37	2	179587427	179587427	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:179587427C>G	ENST00000589042.1	-	76	22423	c.22199G>C	c.(22198-22200)aGt>aCt	p.S7400T	TTN_ENST00000342992.6_Missense_Mutation_p.S6156T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S7083T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7083	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCTATACTATTTTCTGC	0.328000													14	14					0	0	0.001855	0	0
DOK4	55715	broad.mit.edu	37	16	57509863	57509863	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57509863G>A	ENST00000566936.1	-	2	370	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	DOK4_ENST00000340099.4_Missense_Mutation_p.R25W|DOK4_ENST00000569548.1_Missense_Mutation_p.R25W|DOK4_ENST00000561918.1_5'UTR			Q8TEW6	DOK4_HUMAN	docking protein 4	25	PH.						insulin receptor binding	p.R25G(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CAGCACCTCCGGTAGATCTGT	0.667000													10	10					0	0	0.008291	0	0
GALNT5	11227	broad.mit.edu	37	2	158162305	158162305	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:158162305T>C	ENST00000259056.4	+	8	2969	c.2484T>C	c.(2482-2484)acT>acC	p.T828T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	828	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGAAAACACTACAGTCATTC	0.358000													6	46					0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38899605	38899605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:38899605G>A	ENST00000359357.3	+	74	10896	c.10642G>A	c.(10642-10644)Gaa>Aaa	p.E3548K	RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3512K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3765K|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGGTGATAAGGAATGTGATAT	0.333000													37	107					0	0	0.008740	0	0
WARS2	10352	broad.mit.edu	37	1	119619197	119619197	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:119619197G>T	ENST00000369426.5	-	2	127	c.124C>A	c.(124-126)Caa>Aaa	p.Q42K	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.Q42K			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	42					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CCTGTAGGTTGAATGCCGGAA	0.438000													87	22					3.99893e-49	5.10732e-49	0.003610	1	0
SGK3	23678	broad.mit.edu	37	8	67740926	67740926	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:67740926C>A	ENST00000396596.1	+	7	669	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	SGK3_ENST00000345714.4_Missense_Mutation_p.S152Y|SGK3_ENST00000521198.2_Missense_Mutation_p.S152Y|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.S152Y|SGK3_ENST00000520976.1_Missense_Mutation_p.S152Y|SGK3_ENST00000522398.1_Missense_Mutation_p.S152Y	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	152					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGGGACCGTCTGGAAATCCT	0.328000													45	81					2.48909e-17	3.04654e-17	0.003610	1	0
ZNF536	9745	broad.mit.edu	37	19	30936464	30936464	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:30936464C>T	ENST00000355537.3	+	2	2142	c.1995C>T	c.(1993-1995)caC>caT	p.H665H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGGCTGCACGTGGGCCTGG	0.692000													10	46					0	0	0.006214	0	0
DENND1A	57706	broad.mit.edu	37	9	126164103	126164103	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:126164103A>T	ENST00000373620.3	-	21	1886	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.S526T|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000542603.1_Intron	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	0						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGTGATGAAGAGGTCCAGCCT	0.507000											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	45					0	0	0.003610	0	0
MOAP1	64112	broad.mit.edu	37	14	93649974	93649974	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:93649974C>A	ENST00000556883.1	-	2	1098	c.614G>T	c.(613-615)cGa>cTa	p.R205L	MOAP1_ENST00000298894.4_Missense_Mutation_p.R205L			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	205	RASSF1-binding.				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	p.R205Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctctagcaatcgccttctctt	0.463000													25	72					3.6726e-16	4.42596e-16	0.003954	1	0
MMS22L	253714	broad.mit.edu	37	6	97694537	97694537	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:97694537T>C	ENST00000275053.4	-	11	1414	c.1149A>G	c.(1147-1149)gtA>gtG	p.V383V	MMS22L_ENST00000369251.2_Silent_p.V383V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	383					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTTCTTCTACAAAGTTCC	0.289000													18	15					0	0	0.008871	0	0
TRPM1	4308	broad.mit.edu	37	15	31354781	31354781	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:31354781C>G	ENST00000542188.1	-	8	1454		c.e8+1		TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAGACACTTACGAGTTCTTTC	0.348000													4	94					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:7578403C>G	ENST00000420246.2	-	5	659	c.527G>C	c.(526-528)tGc>tCc	p.C176S	TP53_ENST00000269305.4_Missense_Mutation_p.C176S|TP53_ENST00000413465.2_Missense_Mutation_p.C176S|TP53_ENST00000455263.2_Missense_Mutation_p.C176S|TP53_ENST00000445888.2_Missense_Mutation_p.C176S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	8					0	0	0.007291	0	0
SRC	6714	broad.mit.edu	37	20	36012655	36012655	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:36012655C>T	ENST00000373578.2	+	4	448	c.99C>T	c.(97-99)ccC>ccT	p.P33P	SRC_ENST00000373567.2_Silent_p.P33P|SRC_ENST00000360723.4_Silent_p.P33P|SRC_ENST00000445403.1_Silent_p.P33P|SRC_ENST00000358208.4_Silent_p.P33P|SRC_ENST00000373558.2_Silent_p.P33P	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	33					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCGCTTTCCCCGCCTCGCAGA	0.751000													11	6					0	0	0.001855	0	0
SNHG10	283596	broad.mit.edu	37	14	95999779	95999779	+	RNA	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:95999779T>C	ENST00000500370.2	-	0	766				SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000553559.1_RNA																							TGTTGGCGGATAGATAATGAC	0.428000													77	101					0	0	0.003610	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891603	54891603	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:54891603T>G	ENST00000356805.4	+	33	6715	c.6434T>G	c.(6433-6435)gTg>gGg	p.V2145G		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2145					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGAAACGGTGGACACAAGC	0.562000													42	219					0	0	0.002522	0	0
PTH2R	5746	broad.mit.edu	37	2	209308082	209308082	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:209308082T>C	ENST00000272847.2	+	6	732	c.519T>C	c.(517-519)caT>caC	p.H173H	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	173						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GACGATTGCATTGCACTAGGA	0.423000													19	6					0	0	0.001523	0	0
ACSS3	79611	broad.mit.edu	37	12	81532986	81532986	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:81532986C>T	ENST00000548058.1	+	4	1632	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ACSS3_ENST00000261206.3_Missense_Mutation_p.A240V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGAAGAAGCGCTAAAAATA	0.353000													24	13					0	0	0.002299	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375690	16375690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:16375690C>T	ENST00000375679.4	+	8	842	c.731C>T	c.(730-732)aCc>aTc	p.T244I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.T75I	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCGGCCACCTGCGGGGCC	0.657000													60	16					0	0	0.003610	0	0
PVRL4	81607	broad.mit.edu	37	1	161049448	161049448	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:161049448T>C	ENST00000368012.3	-	2	673	c.371A>G	c.(370-372)gAg>gGg	p.E124G		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	124	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCACTCGTACTCGCCCTCATC	0.716000													6	13					0	0	0.001984	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13475012	13475012	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:13475012G>T	ENST00000376126.2	-	3	1116	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	373										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGGCTCAGGGCAGGCAGG	0.572000													6	179					0.00307968	0.00347945	0.003080	1	0
FAM187B	148109	broad.mit.edu	37	19	35719283	35719283	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:35719283G>T	ENST00000324675.3	-	1	349	c.301C>A	c.(301-303)Cgc>Agc	p.R101S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	101						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACCACTTGGCGGCCATTCTTG	0.512000													43	64					3.54561e-26	4.47966e-26	0.002222	1	0
GPR6	2830	broad.mit.edu	37	6	110301053	110301053	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:110301053G>A	ENST00000414000.2	+	3	1022	c.783G>A	c.(781-783)gtG>gtA	p.V261V	GPR6_ENST00000275169.3_Silent_p.V246V			P46095	GPR6_HUMAN	G protein-coupled receptor 6	246						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCTGTACGTGCGCATCTGCC	0.687000													17	12					0	0	0.004007	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264051	140264051	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140264051C>T	ENST00000289272.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.A733V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCGCGCCGGGCAAG	0.672000													57	9					0	0	0.003610	0	0
POLD1	5424	broad.mit.edu	37	19	50906794	50906794	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:50906794C>G	ENST00000440232.2	+	10	1235	c.1182C>G	c.(1180-1182)acC>acG	p.T394T	POLD1_ENST00000595904.1_Silent_p.T394T|POLD1_ENST00000599857.1_Silent_p.T394T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	394					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGTGATCACCGGTTACAACA	0.617000								DNA polymerases (catalytic subunits)					55	82					0	0	0.003610	0	0
PTENP1	11191	broad.mit.edu	37	9	33676672	33676672	+	RNA	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:33676672A>G	ENST00000532280.1	-	0	825					NR_023917.1																						GTGGCTGAAGAAAAAGGAGGA	0.537000													54	8					0	0	0.003610	0	0
OR2B6	26212	broad.mit.edu	37	6	27925114	27925114	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:27925114G>C	ENST00000244623.1	+	1	96	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGTCTTCTTGATTTCTTACA	0.418000													9	88					0	0	0.006214	0	0
EME1	146956	broad.mit.edu	37	17	48453432	48453432	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:48453432T>G	ENST00000393271.2	+	3	863	c.781T>G	c.(781-783)Tta>Gta	p.L261V	EME1_ENST00000511648.2_Missense_Mutation_p.L261V|EME1_ENST00000338165.4_Missense_Mutation_p.L261V	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	261					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)			TGCAGTGCTCTTACAGATGGA	0.567000								Direct reversal of damage;Homologous recombination					5	73					0	0	0.000602	0	0
U2SURP	23350	broad.mit.edu	37	3	142740399	142740399	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:142740399T>C	ENST00000397933.2	+	10	951		c.e10+2		U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000473835.2_Splice_Site			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AATCCACAGGTAATATTAAGT	0.343000													8	37					0	0	0.004482	0	0
LCE1E	353135	broad.mit.edu	37	1	152759999	152759999	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:152759999G>C	ENST00000368770.3	+	2	277	c.224G>C	c.(223-225)tGc>tCc	p.C75S	LCE1E_ENST00000368771.1_Missense_Mutation_p.C75S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	75	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGTGGCTGCTGCCTGAGC	0.687000													4	117					0	0	0.000248	0	0
USP28	57646	broad.mit.edu	37	11	113712437	113712437	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:113712437A>G	ENST00000003302.4	-	4	390	c.322T>C	c.(322-324)Ttg>Ctg	p.L108L	USP28_ENST00000537706.1_Silent_p.L108L|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000260188.5_Silent_p.L108L|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	108					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGTAGACTCAAAGCAATGGCA	0.348000													55	48					0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:65175550C>T	ENST00000381210.3	-	6	761	c.651G>A	c.(649-651)ttG>ttA	p.L217L	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.L217L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	217					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCACCATTATCAAATTTTTCA	0.338000													18	56					0	0	0.008871	0	0
FAM184A	79632	broad.mit.edu	37	6	119295637	119295637	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:119295637C>A	ENST00000338891.7	-	14	3314	c.2871G>T	c.(2869-2871)aaG>aaT	p.K957N	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	957										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTCGTTAGTCTTATTAAAAT	0.348000													47	132					1.07234e-20	1.33334e-20	0.003610	1	0
ZNF229	7772	broad.mit.edu	37	19	44933285	44933285	+	Silent	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:44933285G>T	ENST00000291187.4	-	6	1975	c.1653C>A	c.(1651-1653)tcC>tcA	p.S551S	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.S557S|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542000													45	28					2.13384e-23	2.6673e-23	0.003610	1	0
SCN3A	6328	broad.mit.edu	37	2	166020350	166020350	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:166020350C>G	ENST00000360093.3	-	7	1147	c.656G>C	c.(655-657)aGa>aCa	p.R219T	SCN3A_ENST00000409101.3_Missense_Mutation_p.R219T|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	219						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTCAAGACTCTGAAAGTTCG	0.373000													11	34					0	0	0.001368	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694193	99694193	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:99694193A>C	ENST00000354649.3	+	2	921	c.206A>C	c.(205-207)gAt>gCt	p.D69A	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.D69A	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GCAGGACAGGATGGCCGCGGC	0.647000													12	16					0	0	0.007413	0	0
DMXL2	23312	broad.mit.edu	37	15	51809333	51809333	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:51809333C>T	ENST00000251076.5	-	14	2755	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	DMXL2_ENST00000449909.3_Missense_Mutation_p.S823N|DMXL2_ENST00000543779.2_Missense_Mutation_p.S823N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	823						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGACTGTTGGCTCACAATATT	0.333000													5	135					0	0	0.000602	0	0
RANBP17	64901	broad.mit.edu	37	5	170395247	170395247	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:170395247G>A	ENST00000523189.1	+	14	1740	c.1574_splice	c.e14-1	p.V526_splice		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	526					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCATGAAGAGTTTTTCAGCT	0.308000			T	TRD@	ALL								24	9					0	0	0.003954	0	0
CDH10	1008	broad.mit.edu	37	5	24488021	24488021	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:24488021A>T	ENST00000264463.4	-	12	2625	c.2118T>A	c.(2116-2118)gaT>gaA	p.D706E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGTCCGTGTTATCTGGAGCTG	0.488000										HNSCC(23;0.051)			49	46					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28413737	28413737	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:28413737C>G	ENST00000261609.7	-	67	10338		c.e67-1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACAGCATCTCTGTCAGGACA	0.647000													12	14					0	0	0.000978	0	0
EML5	161436	broad.mit.edu	37	14	89082514	89082514	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:89082514C>T	ENST00000554922.1	-	43	6117	c.5869G>A	c.(5869-5871)Gtt>Att	p.V1957I	EML5_ENST00000380664.5_Missense_Mutation_p.V1949I|EML5_ENST00000352093.5_Missense_Mutation_p.V1911I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1949						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCACTAACAACATGTCGATCA	0.418000													53	81					0	0	0.003610	0	0
ZNF212	7988	broad.mit.edu	37	7	148947393	148947393	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:148947393G>A	ENST00000335870.2	+	2	296	c.168G>A	c.(166-168)gaG>gaA	p.E56E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGAAGATGGAGTCCCAGGCTG	0.582000													6	80					0	0	0.001984	0	0
RPN2	6185	broad.mit.edu	37	20	35852326	35852326	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:35852326C>T	ENST00000237530.6	+	10	1449	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	RPN2_ENST00000373622.5_Missense_Mutation_p.L348F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	380					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AAATGTTGATCTTTCCACCGT	0.488000													3	66					0	0	0.004672	0	0
GSR	2936	broad.mit.edu	37	8	30557645	30557645	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:30557645G>A	ENST00000221130.5	-	6	738	c.648C>T	c.(646-648)agC>agT	p.S216S	GSR_ENST00000414019.1_Silent_p.S173S|GSR_ENST00000546342.1_Silent_p.S216S|GSR_ENST00000541648.1_Silent_p.S216S|GSR_ENST00000537535.1_Silent_p.S216S	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	216					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTATTCCTAAGCTGGCACCTA	0.433000													41	12					0	0	0.008740	0	0
KIF21B	23046	broad.mit.edu	37	1	200956237	200956237	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:200956237G>A	ENST00000332129.2	-	25	3817	c.3501C>T	c.(3499-3501)tcC>tcT	p.S1167S	KIF21B_ENST00000461742.2_Silent_p.S1167S|KIF21B_ENST00000360529.5_Silent_p.S1167S|KIF21B_ENST00000422435.2_Silent_p.S1167S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1167					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1167S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGAGGCCAGGGACTTGGTGA	0.592000													9	178					0	0	0.006214	0	0
TDRD6	221400	broad.mit.edu	37	6	46658979	46658979	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:46658979C>T	ENST00000544460.1	+	1	3368	c.3114C>T	c.(3112-3114)acC>acT	p.T1038T	TDRD6_ENST00000316081.6_Silent_p.T1038T	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1038	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACCCTGGAACCTTGTGCCTTG	0.348000													5	63					0	0	0.000602	0	0
C5orf38	153571	broad.mit.edu	37	5	2752514	2752514	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:2752514C>T	ENST00000515640.1	+	1	155	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	C5orf38_ENST00000397835.4_Missense_Mutation_p.H46Y|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.H46Y|C5orf38_ENST00000457752.2_Missense_Mutation_p.H46Y|C5orf38_ENST00000334000.3_Missense_Mutation_p.H46Y			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	46						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CCTCGCGGTCCACTCCGCCCA	0.701000													9	4					0	0	0.006214	0	0
LNP1	348801	broad.mit.edu	37	3	100170729	100170729	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100170729T>C	ENST00000383693.3	+	3	1603	c.323T>C	c.(322-324)aTt>aCt	p.I108T	LNP1_ENST00000489752.1_Missense_Mutation_p.I121T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	108										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CATTCCAAAATTGAGAAATTT	0.428000													82	39					0	0	0.003610	0	0
ABCG4	64137	broad.mit.edu	37	11	119027587	119027587	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:119027587G>C	ENST00000307417.3	+	9	1295	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	ABCG4_ENST00000449422.2_Missense_Mutation_p.E311Q|ABCG4_ENST00000531739.1_Missense_Mutation_p.E311Q	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	311					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAGTCATCGAGGTGGCCTC	0.577000													21	101					0	0	0.001882	0	0
MYOG	4656	broad.mit.edu	37	1	203054717	203054717	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:203054717C>T	ENST00000241651.4	-	1	447	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	125	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TACTGGATGGCACTGCGCAGG	0.672000													10	55					0	0	0.000978	0	0
UNC13C	440279	broad.mit.edu	37	15	54305278	54305278	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:54305278A>T	ENST00000545554.1	+	1	178	c.178A>T	c.(178-180)Aaa>Taa	p.K60*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.K60*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.K60*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	60					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTACACTTTTAAAAGCACTGT	0.418000													37	51					0	0	0.004878	0	0
PXDNL	137902	broad.mit.edu	37	8	52320696	52320696	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52320696G>A	ENST00000356297.4	-	17	3588	c.3488C>T	c.(3487-3489)aCt>aTt	p.T1163I	PXDNL_ENST00000543296.1_Missense_Mutation_p.T1163I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1163					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTAACTGAAGTCAAATTACA	0.403000													4	82					0	0	0.000248	0	0
HRG	3273	broad.mit.edu	37	3	186386805	186386805	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:186386805T>C	ENST00000232003.4	+	2	345	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	89	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTGGAATGACTGTGAGCCACC	0.413000													4	137					0	0	0.000602	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815640	106815640	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:106815640T>C	ENST00000407775.2	+	8	3580	c.3330T>C	c.(3328-3330)ggT>ggC	p.G1110G	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.G978G|ZFPM2_ENST00000378472.4_Silent_p.G841G|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.G978G|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1110					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGTGAATGGTTCCAGCCAGG	0.438000													21	22					0	0	0.002780	0	0
SGK223	157285	broad.mit.edu	37	8	8185978	8185978	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:8185978C>G	ENST00000520004.1	-	5	2579		c.e5-1		SGK223_ENST00000330777.4_Splice_Site			Q86YV5	SG223_HUMAN									ATP binding|non-membrane spanning protein tyrosine kinase activity										GACGAGGGACCTGAAGAGGAG	0.522000													8	6					0	0	0.003080	0	0
ASB15	142685	broad.mit.edu	37	7	123269291	123269291	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123269291G>C	ENST00000451558.1	+	12	1764	c.1243G>C	c.(1243-1245)Gac>Cac	p.D415H	ASB15_ENST00000275699.3_Missense_Mutation_p.D415H|ASB15_ENST00000451215.1_Missense_Mutation_p.D415H|ASB15_ENST00000540573.1_Missense_Mutation_p.D415H|ASB15_ENST00000434204.1_Missense_Mutation_p.D415H			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	415					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCATGTGAATGACACTCGTTT	0.418000													25	83					0	0	0.003330	0	0
BIRC5	332	broad.mit.edu	37	17	76212844	76212844	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76212844A>G	ENST00000301633.4	+	4	521	c.390A>G	c.(388-390)gaA>gaG	p.E130E	BIRC5_ENST00000589892.1_3'UTR|AC087645.1_ENST00000600484.1_Silent_p.L251L|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Silent_p.E107E	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	107					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TGGACAGAGAAAGAGCCAAGA	0.403000													30	53					0	0	0.001786	0	0
ERBB2	2064	broad.mit.edu	37	17	37871770	37871770	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:37871770C>T	ENST00000406381.2	+	13	1714	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	ERBB2_ENST00000540042.1_Missense_Mutation_p.R402W|ERBB2_ENST00000445658.2_Missense_Mutation_p.R156W|ERBB2_ENST00000269571.5_Missense_Mutation_p.R432W|ERBB2_ENST00000578199.1_Missense_Mutation_p.R402W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R417W|ERBB2_ENST00000540147.1_Missense_Mutation_p.R402W|ERBB2_ENST00000584450.1_Missense_Mutation_p.R432W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R402W	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	432					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)	GCAAGTAATCCGGGGACGAAT	0.572000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			9	1088					0	0	0.003080	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968471	72968471	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:72968471T>A	ENST00000311755.3	-	3	768	c.245A>T	c.(244-246)cAg>cTg	p.Q82L						HIG1 hypoxia inducible domain family, member 2B																		GGCGGCGATCTGGGTGTGCAT	0.587000													7	6					0	0	0.001984	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833300	34833300	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:34833300C>T	ENST00000299505.6	+	10	3334	c.2461C>T	c.(2461-2463)Cgt>Tgt	p.R821C		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	821										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTGGCCCAACCGTGACCAAAG	0.522000													62	84					0	0	0.003610	0	0
ELMO2	63916	broad.mit.edu	37	20	45003021	45003021	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:45003021G>A	ENST00000372176.1	-	15	1433	c.965C>T	c.(964-966)gCc>gTc	p.A322V	ELMO2_ENST00000290246.6_Missense_Mutation_p.A410V|ELMO2_ENST00000352077.2_Missense_Mutation_p.A408V|ELMO2_ENST00000439931.2_Missense_Mutation_p.A422V|ELMO2_ENST00000445496.2_Missense_Mutation_p.A227V|ELMO2_ENST00000454865.2_Missense_Mutation_p.A142V|ELMO2_ENST00000396391.1_Missense_Mutation_p.A410V			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	410	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GAGCTCAATGGCACTGCGGCC	0.512000													36	45					0	0	0.006999	0	0
BCAS3	54828	broad.mit.edu	37	17	58967054	58967054	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:58967054A>G	ENST00000589222.1	+	10	729		c.e10-1		BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398000													3	118					0	0	0.000602	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226607	152226607	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:152226607A>T	ENST00000243347.3	+	4	543	c.468A>T	c.(466-468)gaA>gaT	p.E156D		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATGAGTACGAAGATAACCAAA	0.398000													64	69					0	0	0.003610	0	0
KMT2D	8085	broad.mit.edu	37	12	49448535	49448535	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:49448535C>T	ENST00000301067.7	-	3	176		c.e3-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGGACCCCCACTGTGGACACA	0.587000													29	18					0	0	0.005443	0	0
NLGN1	22871	broad.mit.edu	37	3	173322668	173322668	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:173322668C>G	ENST00000457714.1	+	3	709	c.280C>G	c.(280-282)Cgt>Ggt	p.R94G	NLGN1_ENST00000545397.1_Missense_Mutation_p.R94G|NLGN1_ENST00000361589.4_Missense_Mutation_p.R94G|NLGN1_ENST00000401917.3_Missense_Mutation_p.R94G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	94					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGGGAACGTCGTTTTCAGCC	0.453000													5	251					0	0	0.000602	0	0
RMND5B	64777	broad.mit.edu	37	5	177574774	177574774	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:177574774C>T	ENST00000515098.1	+	11	1359	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RMND5B_ENST00000313386.4_Silent_p.F336F|RMND5B_ENST00000542098.1_Silent_p.F323F			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	336										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCGTGTTCGCTTGCCCCA	0.542000													75	17					0	0	0.003610	0	0
GPR21	2844	broad.mit.edu	37	9	125797792	125797792	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:125797792A>G	ENST00000373642.1	+	1	987	c.947A>G	c.(946-948)aAg>aGg	p.K316R	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	316						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AGAGGACTAAAGCGCCTCTCA	0.453000													51	41					0	0	0.003610	0	0
MMS22L	253714	broad.mit.edu	37	6	97676903	97676903	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:97676903C>G	ENST00000275053.4	-	14	2171	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	MMS22L_ENST00000369251.2_Missense_Mutation_p.E596Q	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	636					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TAGCTGGTCTCAAACACTTCT	0.398000													34	36					0	0	0.003755	0	0
RFX7	64864	broad.mit.edu	37	15	56386608	56386608	+	Silent	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:56386608A>C	ENST00000423270.1	-	9	3317	c.3318T>G	c.(3316-3318)tcT>tcG	p.S1106S	RFX7_ENST00000317318.6_Silent_p.S1106S|RFX7_ENST00000422057.1_Silent_p.S1009S|RFX7_ENST00000559447.2_Silent_p.S1009S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1009					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGACTGATAAGACTGTCCAG	0.448000													35	88					0	0	0.003755	0	0
STXBP4	252983	broad.mit.edu	37	17	53111543	53111543	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:53111543G>A	ENST00000376352.2	+	10	985	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	STXBP4_ENST00000405898.1_Missense_Mutation_p.A260T|STXBP4_ENST00000398391.2_Missense_Mutation_p.A185T|STXBP4_ENST00000434978.2_Missense_Mutation_p.A260T|STXBP4_ENST00000299341.4_Missense_Mutation_p.A185T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	260						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGTCCAGGTTGCCAGAAACTT	0.338000													38	52					0	0	0.007835	0	0
C1QL2	165257	broad.mit.edu	37	2	119915824	119915824	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:119915824C>T	ENST00000272520.3	-	1	641	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	8						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						AGCGGCACGGCGATGAGCAGC	0.741000										HNSCC(49;0.14)			3	10					0	0	0.000602	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858530	42858530	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:42858530C>G	ENST00000455697.1	-	7	1591	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.D436H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.D436H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.D436H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.D436H|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	436					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTCGAATATCCATCTCATTG	0.423000													25	52					0	0	0.003954	0	0
UBC	7316	broad.mit.edu	37	12	125397972	125397972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:125397972G>A	ENST00000536769.1	-	1	1922	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Nonsense_Mutation_p.Q116*|UBC_ENST00000339647.5_Nonsense_Mutation_p.Q116*			P0CG48	UBC_HUMAN	ubiquitin C	116	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AACCTCTGCTGGTCAGGAGGA	0.547000													41	129					0	0	0.003214	0	0
CNOT3	4849	broad.mit.edu	37	19	54656721	54656721	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:54656721C>G	ENST00000406403.1	+	15	3625	c.2022C>G	c.(2020-2022)atC>atG	p.I674M	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.I674M|CNOT3_ENST00000358389.3_Missense_Mutation_p.I493M			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	674					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTCATCTTCTACTATC	0.682000													42	129					0	0	0.003610	0	0
RFC1	5981	broad.mit.edu	37	4	39290414	39290414	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:39290414G>A	ENST00000381897.1	-	25	3547	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	RFC1_ENST00000349703.2_Silent_p.P1137P	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1138					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCCTTTTCTGGGCTCCTTAT	0.378000													26	12					0	0	0.007291	0	0
RNF182	221687	broad.mit.edu	37	6	13977531	13977531	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:13977531G>T	ENST00000488300.1	+	3	704	c.181G>T	c.(181-183)Gtc>Ttc	p.V61F	RNF182_ENST00000537388.1_Missense_Mutation_p.V61F|RNF182_ENST00000537663.1_Missense_Mutation_p.V61F|RNF182_ENST00000544682.1_Missense_Mutation_p.V61F	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	61						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CCCACAAGGTGTCATTGTCTG	0.473000													8	116					0.00621372	0.00698671	0.006214	1	0
MGAM	8972	broad.mit.edu	37	7	141722076	141722076	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:141722076C>T	ENST00000475668.2	+	7	773	c.719C>T	c.(718-720)tCg>tTg	p.S240L	MGAM_ENST00000549489.2_Missense_Mutation_p.S240L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	240	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGTTTGACTCGAGCATTGGG	0.522000													30	52					0	0	0.003271	0	0
KRT33A	3883	broad.mit.edu	37	17	39504890	39504890	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:39504890A>G	ENST00000007735.3	-	3	477	c.431_splice	c.e3-1	p.Y145_splice		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	145	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCGGTCTCATATCTGTGATCA	0.572000													158	42					0	0	0.003610	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559072	1559072	+	Silent	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:1559072G>C	ENST00000381605.4	-	2	409	c.345C>G	c.(343-345)gcC>gcG	p.A115A	RP4-576H24.4_ENST00000564763.1_Silent_p.A115A|SIRPB1_ENST00000381603.3_Silent_p.A115A|SIRPB1_ENST00000262929.5_Silent_p.A114A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	115	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGGTGCCGGCGTCTGCTG	0.532000													42	196					0	0	0.002852	0	0
POLR2B	5431	broad.mit.edu	37	4	57852522	57852522	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:57852522A>G	ENST00000381227.1	+	3	435	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	POLR2B_ENST00000441246.2_Start_Codon_SNP_p.M1V|POLR2B_ENST00000431623.2_5'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.M8V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	8					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTACAGATATGCAATATGA	0.358000													38	23					0	0	0.004878	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147038	161147038	+	RNA	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:161147038G>C	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CAATGTCATAGAGCTTCTTCA	0.448000													3	170					0	0	0.000248	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653241	130653241	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653241C>G	ENST00000373146.1	-	5	558	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.E93Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.E127Q|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.E127Q|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.E93Q|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	127					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCCCGCTCGATCTCAGGG	0.592000													15	28					0	0	0.004007	0	0
SEH1L	81929	broad.mit.edu	37	18	12986890	12986890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:12986890G>A	ENST00000399892.2	+	9	1201	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GATTCCCCACGGGCTGGATCG	0.463000													16	19					0	0	0.003163	0	0
MFSD1	64747	broad.mit.edu	37	3	158539427	158539427	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:158539427C>A	ENST00000415822.2	+	10	1193	c.1052C>A	c.(1051-1053)gCa>gAa	p.A351E	MFSD1_ENST00000392813.4_Missense_Mutation_p.A312E|MFSD1_ENST00000264266.8_Missense_Mutation_p.A302E	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	302					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCCAGGCAGCAAGTGCAATT	0.294000													12	129					1.5739e-10	1.87749e-10	0.004007	1	0
ARHGAP17	55114	broad.mit.edu	37	16	24990293	24990293	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:24990293T>C	ENST00000289968.6	-	2	156	c.87A>G	c.(85-87)ctA>ctG	p.L29L	ARHGAP17_ENST00000441763.2_Silent_p.L29L|ARHGAP17_ENST00000303665.5_Silent_p.L29L|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	29	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTACCTGTAATAGATCTTCAC	0.303000													12	19					0	0	0.004990	0	0
HIPK2	28996	broad.mit.edu	37	7	139258060	139258060	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:139258060C>T	ENST00000406875.3	-	15	3304	c.3210G>A	c.(3208-3210)ccG>ccA	p.P1070P	HIPK2_ENST00000428878.2_Silent_p.P1043P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1070	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGGAGTACGGAGCCTGGG	0.682000													47	77					0	0	0.003610	0	0
ADCK3	56997	broad.mit.edu	37	1	227174248	227174250	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:227174248_227174250delAGA	ENST00000366779.1	+	20	4525_4527	c.1754_1756delAGA	c.(1753-1758)gag>g	p.EK585del	ADCK3_ENST00000458507.2_In_Frame_Del_p.EK306del|ADCK3_ENST00000433743.2_In_Frame_Del_p.EK259del|ADCK3_ENST00000366777.3_In_Frame_Del_p.EK585del|ADCK3_ENST00000366778.1_In_Frame_Del_p.EK533del|ADCK3_ENST00000366775.1_In_Frame_Del_p.EK430del|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366776.1_In_Frame_Del_p.EK510del			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	585					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGCACCACCGAGAAGATCCACAA	0.591													18	98	---	---	---	---					
RRM2	6241	broad.mit.edu	37	2	10267005	10267006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10267005_10267006insT	ENST00000360566.2	+	6	1044_1045	c.753_754insT	c.(751-756)gattctfs	p.S252fs	RRM2_ENST00000304567.5_Frame_Shift_Ins_p.S192fs	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	192					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTACTAGGGAATTTCTCTTCAA	0.465													16	229	---	---	---	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10908907	10908908	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10908907_10908908delAA	ENST00000381661.3	+	6	550_551	c.441_442delAA	c.(439-444)acacfs	p.TN147fs	ATP6V1C2_ENST00000272238.4_Frame_Shift_Del_p.TN147fs|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	147					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCTGAAGACAAACCTGGAGAA	0.569													35	37	---	---	---	---					
ACMSD	130013	broad.mit.edu	37	2	135596266	135596266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:135596266delT	ENST00000356140.5	+	1	150	c.14delT	c.(13-15)acfs	p.I5fs	ACMSD_ENST00000283054.4_5'UTR|ACMSD_ENST00000392928.1_5'UTR|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	5					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AAAATTGACATCCATAGTCAT	0.343													25	39	---	---	---	---					
HSD17B8	7923	broad.mit.edu	37	6	33173441	33173442	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:33173441_33173442delTA	ENST00000374662.3	+	5	532_533	c.505_506delTA	c.(505-507)tfs	p.Y169fs	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	169					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	GCAGACAAACTATGCAGCATCC	0.589													12	41	---	---	---	---					
SLC35B2	347734	broad.mit.edu	37	6	44222449	44222451	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:44222449_44222451delCTT	ENST00000393812.3	-	4	1434_1436	c.1291_1293delAAG	c.(1291-1293)del	p.K431del	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_In_Frame_Del_p.K338del|SLC35B2_ENST00000537814.1_In_Frame_Del_p.K298del|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	431					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCTCAAACCTTCTGCACAGGA	0.576													77	64	---	---	---	---					
AK9	221264	broad.mit.edu	37	6	109867278	109867279	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:109867278_109867279delAT	ENST00000424296.2	-	26	3092_3093	c.3016_3017delAT	c.(3016-3018)gfs	p.M1006fs	AK9_ENST00000341338.6_Frame_Shift_Del_p.M85fs|AK9_ENST00000355283.1_Frame_Shift_Del_p.M85fs	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TCTTCCACACATAGTTTTGCCA	0.450													37	108	---	---	---	---					
DAGLB	221955	broad.mit.edu	37	7	6452649	6452649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:6452649delA	ENST00000297056.6	-	12	1613	c.1444delT	c.(1444-1446)atfs	p.Y482fs	DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000428902.2_Frame_Shift_Del_p.I341fs|DAGLB_ENST00000436575.1_Frame_Shift_Del_p.Y441fs|DAGLB_ENST00000425398.2_Frame_Shift_Del_p.Y353fs	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	482					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTCTGAGAATATTCCTGCAGA	0.517													23	21	---	---	---	---					
EIF4H	7458	broad.mit.edu	37	7	73604163	73604171	+	In_Frame_Del	DEL	TCGGTCACT	TCGGTCACT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:73604163_73604171delTCGGTCACT	ENST00000265753.8	+	4	463_471	c.324_332delTCGGTCACT	c.(322-333)gat>ga	p.DRSL108del	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_In_Frame_Del_p.DRSL108del	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	108	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TGTTGGGCGATCGGTCACTTCGTGTGGAC	0.426													28	60	---	---	---	---					
STEAP4	79689	broad.mit.edu	37	7	87908901	87908907	+	Frame_Shift_Del	DEL	TGTGGGC	TGTGGGC	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:87908901_87908907delTGTGGGC	ENST00000380079.4	-	5	1287_1293	c.1186_1192delGCCCACA	c.(1186-1194)ccfs	p.AHT396fs	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.AHT220fs	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	396					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.A396A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACACCAGGGTGTGGGCTGTACACAAG	0.411													9	44	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49425072	49425073	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:49425072_49425073delCA	ENST00000301067.7	-	39	13414_13415	c.13415_13416delTG	c.(13414-13416)gfs	p.V4472fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGCTGAGTTGCACATTCTTTGC	0.614													31	68	---	---	---	---					
OR6C2	341416	broad.mit.edu	37	12	55846799	55846802	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:55846799_55846802delATAA	ENST00000322678.1	+	1	802_805	c.802_805delATAA	c.(802-807)atfs	p.IN268fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGAGGTGGCCATAAATAAAGGAGT	0.436													33	35	---	---	---	---					
DECR2	26063	broad.mit.edu	37	16	457468	457471	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs145497745		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:457468_457471delCTCT	ENST00000219481.5	+	4	383_386	c.245_248delCTCT	c.(244-249)ccfs	p.PL82fs	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Frame_Shift_Del_p.PL70fs|DECR2_ENST00000397710.1_Frame_Shift_Del_p.PL133fs	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	82						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CGCTGCCTCCCTCTCTCTATGGAC	0.632													13	39	---	---	---	---					
TBKBP1	9755	broad.mit.edu	37	17	45774515	45774516	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:45774515_45774516delCT	ENST00000361722.3	+	3	1258_1259	c.409_410delCT	c.(409-411)cfs	p.L137fs		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	137					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CTACGAGAAACTCTGCGTGGAG	0.569													13	13	---	---	---	---					
DNAH17	8632	broad.mit.edu	37	17	76424609	76424611	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76424609_76424611delCTC	ENST00000389840.5	-	77	12689_12691	c.12565_12567delGAG	c.(12565-12567)del	p.E4189del	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_In_Frame_Del_p.E4190del					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGCCTTCTCCTCGCGGGAC	0.596													5	8	---	---	---	---					
RAB12	201475	broad.mit.edu	37	18	8633275	8633277	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:8633275_8633277delAAG	ENST00000329286.6	+	3	659_661	c.376_378delAAG	c.(376-378)del	p.K127del		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	127					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGATATCACTAAGAAGGAGACAT	0.384													27	135	---	---	---	---					
DEDD2	162989	broad.mit.edu	37	19	42719365	42719374	+	Frame_Shift_Del	DEL	GAAGAGCTGG	GAAGAGCTGG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:42719365_42719374delGAAGAGCTGG	ENST00000595337.1	-	3	446_455	c.359_368delCCAGCTCTTC	c.(358-369)tafs	p.SSSS120fs	DEDD2_ENST00000596251.1_Frame_Shift_Del_p.SSSS120fs|DEDD2_ENST00000598727.1_Frame_Shift_Del_p.SSSS120fs|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.SSSS120fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	120					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				TGTCCTCTTTGAAGAGCTGGAGGTGCCATA	0.567													10	98	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35208857	35208859	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr21:35208857_35208859delAGG	ENST00000381318.3	+	29	3870_3872	c.3582_3584delAGG	c.(3580-3585)aaa>aa	p.KG1194del	ITSN1_ENST00000399349.1_In_Frame_Del_p.KG1118del|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_In_Frame_Del_p.KG1189del|ITSN1_ENST00000399355.2_In_Frame_Del_p.KG1123del|ITSN1_ENST00000399352.1_In_Frame_Del_p.KG1189del|ITSN1_ENST00000399353.1_In_Frame_Del_p.KG1152del|ITSN1_ENST00000381291.4_In_Frame_Del_p.KG1194del|ITSN1_ENST00000381285.4_In_Frame_Del_p.KG1194del|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_In_Frame_Del_p.KG1189del|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1194	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.G1195A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACTGGTGGAAAGGAGAAGTCAAT	0.532													28	17	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													3	4	---	---	---	---