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
FUCA1	2517	broad.mit.edu	37	1	24186288	24186288	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr1:24186288C>T	uc001bie.3	-	4	851	c.768_splice	c.e4+1	p.K256_splice	FUCA1_uc009vqt.2_Splice_Site|FUCA1_uc010oed.1_Splice_Site	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	256					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AATCACATACCTTGACAGGGC	0.413000													8	27					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97218544	97218544	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr9:97218544G>A	uc004aur.3	+	9	1320	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	HIATL1_uc011luh.2_Intron	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	351					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCAGGGACCGTGGCTGCCAT	0.562000													29	25					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153649045	153649045	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153649045G>C	uc010nuy.3	+	8	760	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	TAZ_uc004fkx.3_Missense_Mutation_p.E250Q|TAZ_uc004fky.3_Missense_Mutation_p.E236Q|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.E220Q|TAZ_uc004flb.3_Missense_Mutation_p.E206Q|TAZ_uc004flc.4_Missense_Mutation_p.E220Q	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	250					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGTACTCGAGCGGCTCCG	0.647000													20	81					0	0	1	0	0
DNASE1	1773	broad.mit.edu	37	16	3707025	3707025	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:3707025C>T	uc002cvr.3	+	5	2569	c.462C>T	c.(460-462)ccC>ccT	p.P154P		NM_005223	NP_005214	P24855	DNAS1_HUMAN	Homo sapiens deoxyribonuclease I (DNASE1), mRNA.	154			P -> A (in allele DNASE1*3; dbSNP:rs1799891).		DNA catabolic process|apoptosis	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCATTGTTCCCCTGCATGCGG	0.602000													6	33					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738892	38738892	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:38738892A>G	uc003ciq.3	-	26	5819	c.5819T>C	c.(5818-5820)aTa>aCa	p.I1940T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1940					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCATTTTGTATTGAGCTAGA	0.478000													24	64					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351176	50351176	+	Missense_Mutation	SNP	G	G	A	rs149034742		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:50351176G>A	uc004dpe.2	-	5	2992	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	989					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTGGAATGAGCCATTTCCCT	0.408000													10	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478877	179478877	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:179478877A>T	uc021vsy.1	-	210	41768	c.41543T>A	c.(41542-41544)aTc>aAc	p.I13848N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.I7543N|TTN_uc021vta.1_Missense_Mutation_p.I7476N|TTN_uc021vtb.1_Missense_Mutation_p.I7351N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14775							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)			TTTATTGGGGATTAATTTGGT	0.433000													8	8					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93524635	93524635	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:93524635G>T	uc002bsp.3	+	23	3589	c.3014G>T	c.(3013-3015)aGa>aTa	p.R1005I	CHD2_uc002bso.1_Missense_Mutation_p.R1005I	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1005	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTGAAACGAGAGAGAATGAA	0.373000													3	10					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799908	27799908	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:27799908G>A	uc002rkz.4	+	0	520	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	157										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATTTATCACGCCACAGAATC	0.403000													14	63					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580929	140580929	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140580929G>T	uc003liy.3	+	0	1582	c.1582G>T	c.(1582-1584)Gac>Tac	p.D528Y		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	528	Cadherin 5.		D -> E (in dbSNP:rs799834).		calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTCGACTTCCGCGT	0.677000													6	198					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30921881	30921881	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:30921881C>T	uc003tbt.3	+	15	2134	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L	FAM188B_uc010kwe.3_Missense_Mutation_p.P657L|FAM188B_uc011kac.1_Missense_Mutation_p.P32L|FAM188B_uc003tbu.3_Missense_Mutation_p.P206L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	686										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCTGCAGCCGGGGCTCCTG	0.592000													33	40					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:52716212C>T	uc002pyp.3	+	5	951	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S164L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S259L|PPP2R1A_uc002pyq.3_Missense_Mutation_p.S40L	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647000			Mis		clear cell ovarian carcinoma								130	38					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573707	140573707	+	Nonsense_Mutation	SNP	G	G	T	rs17844576		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140573707G>T	uc003lix.3	+	0	1756	c.1582G>T	c.(1582-1584)Gag>Tag	p.E528*		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E528D(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTCGAGTTCCGCGT	0.692000													21	329					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910572	38910572	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38910572G>T	uc021uub.1	-	5	805	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.F197L|RASGRP4_uc021uua.1_Missense_Mutation_p.F197L|RASGRP4_uc021uuc.1_Missense_Mutation_p.F197L|RASGRP4_uc021uud.1_Missense_Mutation_p.F197L|RASGRP4_uc021uue.1_Missense_Mutation_p.F197L|RASGRP4_uc021uuf.1_Missense_Mutation_p.F183L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	197					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAAGTGGTCGAAAAGCAAGG	0.652000													6	131					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126692042	126692042	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr10:126692042C>T	uc009yak.3	-	3	365	c.78G>A	c.(76-78)atG>atA	p.M26I	CTBP2_uc009yal.3_Missense_Mutation_p.M26I|CTBP2_uc001lif.4_Missense_Mutation_p.M26I|CTBP2_uc001lih.4_Missense_Mutation_p.M26I|CTBP2_uc001lid.4_Missense_Mutation_p.M94I|CTBP2_uc001lie.4_Missense_Mutation_p.M566I	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	26					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGGGCCGTTCATGATCTGGG	0.687000													9	15					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	53					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023599	18023599	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:18023599G>A	uc021trm.1	+	0	1704	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	MYO15A_uc021trl.1_Silent_p.V495V	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	495	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGGAGGTGCCCCTGCCAC	0.642000													34	8					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64719785	64719785	+	Silent	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:64719785T>C	uc010nko.3	+	3	1073	c.1006T>C	c.(1006-1008)Tta>Cta	p.L336L		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	325							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGATGATCCATTAGGACGCCA	0.438000													62	87					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686177	36686177	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:36686177C>T	uc003jkj.4	+	9	1911	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	SLC1A3_uc011cox.2_Missense_Mutation_p.R372W|SLC1A3_uc010iuy.3_Missense_Mutation_p.R434W	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	479					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGATCGCCTCCGGACCACCAC	0.552000													30	85					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93524636	93524636	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:93524636A>T	uc002bsp.3	+	23	3590	c.3015A>T	c.(3013-3015)agA>agT	p.R1005S	CHD2_uc002bso.1_Missense_Mutation_p.R1005S	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1005	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGAAACGAGAGAGAATGAAG	0.368000													3	11					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197924	74197924	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:74197924G>C	uc003ubb.3	+	6	701	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	211	Asp/Glu-rich (highly acidic).|SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTCCTTCCTCGAGCCCCTGGA	0.637000													15	55					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153051890	153051890	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153051890G>A	uc004fip.3	-	10	1125	c.939C>T	c.(937-939)acC>acT	p.T313T	IDH3G_uc004fiq.3_Silent_p.T313T|IDH3G_uc004fit.1_Silent_p.T313T|IDH3G_uc004fiu.3_Silent_p.T89T	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	313					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TACTCTTGCCGGTGTTCCTCG	0.612000													6	6					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31817004	31817004	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr14:31817004T>C	uc001wrf.4	-	18	3003	c.2818A>G	c.(2818-2820)Att>Gtt	p.I940V	HEATR5A_uc010ami.3_Missense_Mutation_p.I545V|HEATR5A_uc001wrg.1_Missense_Mutation_p.I529V|HEATR5A_uc010tpk.1_Missense_Mutation_p.I940V	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	934							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGATTCCAATACAAGAATTT	0.428000													10	7					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12531437	12531437	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:12531437C>T	uc003bxc.3	+	1	525	c.138C>T	c.(136-138)aaC>aaT	p.N46N	TSEN2_uc003bwz.3_Silent_p.N46N|TSEN2_uc003bxa.3_Silent_p.N46N|TSEN2_uc011auq.1_Silent_p.N46N|TSEN2_uc003bxb.3_Silent_p.N46N|TSEN2_uc011aur.1_5'UTR	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	46					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AAATGATTAACAACAATGTGA	0.443000													39	52					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34053869	34053869	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr21:34053869G>A	uc002yqh.2	-	10	1407	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	SYNJ1_uc011ads.1_Silent_p.S430S|SYNJ1_uc002yqf.2_Silent_p.S430S|SYNJ1_uc002yqg.2_Silent_p.S430S|SYNJ1_uc002yqi.2_Silent_p.S469S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	430							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.S430S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACCATTCACGGACCACATTG	0.398000													22	60					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014628	114014628	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:114014628G>A	uc003ebg.2	+	1	1053	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	100	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTCGCTGACCGTGAACGATAC	0.567000													42	49					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2274828	2274828	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:2274828T>C	uc003slm.3	-	2	699	c.670A>G	c.(670-672)Agg>Ggg	p.R224G	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Missense_Mutation_p.R70G	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	224					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GACTCTTTCCTGCTGGCTTCA	0.468000													34	63					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716854	153716854	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153716854C>T	uc022cig.1	-	0	426	c.426G>A	c.(424-426)ctG>ctA	p.L142L	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Intron|SLC10A3_uc004flq.3_Silent_p.L142L|SLC10A3_uc004flp.3_Silent_p.L142L	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	142					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGTGGGGCCAGCCCAGCCA	0.612000													43	70					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230644	38230644	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38230644C>T	uc002ohe.3	-	4	816	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ZNF573_uc010efs.2_Silent_p.Q162Q|ZNF573_uc002ohd.3_Silent_p.Q247Q|ZNF573_uc002ohf.3_Silent_p.Q191Q|ZNF573_uc002ohg.3_Silent_p.Q161Q|ZNF573_uc021utv.1_Silent_p.Q161Q	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCCCACACTCCTGACATTCAT	0.428000													37	372					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118544	118544	+	RNA	SNP	A	A	G			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrGL000205.1:118544A>G	uc002kgk.4	+	0		c.1922A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGATAATCTAAGAGAAAAAGA	0.408000													5	50					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284093	130284093	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:130284093C>T	uc010htl.3	+	2	948	c.917C>T	c.(916-918)gCc>gTc	p.A306V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	306	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.A306D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACTGGGAAGGCCTATACTGGA	0.478000													49	69					0	0	1	0	0
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:97617777G>A	uc003upc.3	-	1	145	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	Homo sapiens oncomodulin 2 (OCM2), mRNA.	49	EF-hand 1.						calcium ion binding			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507000													36	62					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr4:153247288C>A	uc003ims.3	-	9	1676	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_uc011cii.2_Missense_Mutation_p.R505L|FBXW7_uc003imt.3_Missense_Mutation_p.R505L|FBXW7_uc011cih.2_Missense_Mutation_p.R329L|FBXW7_uc003imq.3_Missense_Mutation_p.R425L|FBXW7_uc003imr.3_Missense_Mutation_p.R387L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	505			R -> L (in an ovarian cancer cell line).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R505C(50)|p.R505L(13)|p.R505G(9)|p.R505H(9)|p.R505S(2)|p.R505P(2)|p.V504I(2)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R425H(1)|p.R425L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAACACAGCGGACTGCTGC	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	47					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18338512	18338512	+	Silent	SNP	C	C	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:18338512C>A	uc004cyl.2	-	5	583	c.426G>T	c.(424-426)ccG>ccT	p.P142P	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.P142P|SCML2_uc011miz.1_Silent_p.P76P	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	142					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGAGGAACATCGGCCAGGAGG	0.333000													7	15					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:13338336C>T	uc002mwy.3	-	36	5770	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_uc002mwx.3_Missense_Mutation_p.R551H|CACNA1A_uc010dzc.2_Intron|CACNA1A_uc010xnd.2_Missense_Mutation_p.R1848H|CACNA1A_uc021ups.1_Missense_Mutation_p.R1845H|CACNA1A_uc010xne.2_Missense_Mutation_p.R1848H|CACNA1A_uc010dze.2_Intron|CACNA1A_uc021upt.1_Intron|CACNA1A_uc002mwv.3_Intron	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1846					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)	GTAAGGCATGCGGCCCCTGGC	0.493000													4	64					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68200785	68200785	+	Silent	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:68200785T>C	uc002evo.2	+	4	1957	c.1641T>C	c.(1639-1641)gaT>gaC	p.D547D	NFATC3_uc010vkl.2_Silent_p.D68D|NFATC3_uc010vkm.2_Silent_p.D68D|NFATC3_uc010vkn.2_Silent_p.D68D|NFATC3_uc010vko.2_Silent_p.D68D|NFATC3_uc010vkp.2_Silent_p.D68D|NFATC3_uc010vkq.2_Silent_p.D68D|NFATC3_uc002evl.3_Silent_p.D68D|NFATC3_uc002evk.3_Silent_p.D547D|NFATC3_uc002evm.2_Silent_p.D547D|NFATC3_uc002evn.2_Silent_p.D547D|NFATC3_uc010vkr.2_Silent_p.D68D|NFATC3_uc010vks.2_Silent_p.D68D|NFATC3_uc010vkt.2_Silent_p.D68D|NFATC3_uc010vku.2_Silent_p.D68D|NFATC3_uc010vkv.2_Silent_p.D68D|NFATC3_uc010vkw.2_Silent_p.D68D|NFATC3_uc010vkx.2_Silent_p.D68D|NFATC3_uc010vky.2_Silent_p.D68D|NFATC3_uc010vkz.2_Silent_p.D68D|NFATC3_uc010vla.2_Silent_p.D68D|NFATC3_uc010vlb.2_Silent_p.D68D|NFATC3_uc010vlc.2_Silent_p.D68D	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	547	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAATTCAGATATAGAACTTC	0.333000													13	20					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775911	95775911	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:95775911G>A	uc003uog.4	-	13	1603	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	SLC25A13_uc003uof.4_Missense_Mutation_p.A470V|SLC25A13_uc011kik.2_Missense_Mutation_p.A362V	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	470					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GACAGACAGAGCACTGACTCG	0.433000													73	129					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43891378	43891378	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:43891378C>T	uc001zsc.3	+	9	1553	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	CKMT1B_uc010uds.2_Silent_p.I418I|CKMT1B_uc010bdj.3_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	387	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AACTGGTCATCGATGGAGTAA	0.473000													74	67					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589579	67589596	+	In_Frame_Del	DEL	AAATTACATGAATATAAC	AAATTACATGAATATAAC	-	rs17852841		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:67589579_67589596delAAATTACATGAATATAAC	uc003jva.3	+	10	1922_1939	c.1342_1359delAAATTACATGAATATAAC	c.(1342-1359)aaattacatgaatataacdel	p.KLHEYN448del	PIK3R1_uc003jvc.3_In_Frame_Del_p.KLHEYN148del|PIK3R1_uc003jvd.3_In_Frame_Del_p.KLHEYN178del|PIK3R1_uc003jve.3_In_Frame_Del_p.KLHEYN127del|PIK3R1_uc021xzn.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_uc011crb.2_In_Frame_Del_p.KLHEYN118del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	448					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(6)|p.H450_E451del(4)|p.L449fs*3(2)|p.Y452_Q455>SGGSRIK(2)|p.L449S(2)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.E451_Y452delEY(2)|p.K448fs*32(2)|p.K448_L449>I(2)|p.453_454insN(2)|p.D434_Q475del(2)|p.Y152N(1)|p.T454_D464del(1)|p.?(1)|p.T454_Q455>Q(1)|p.Y182N(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGTAGGGAAAAAATTACATGAATATAACACTCAGTTTC	0.266			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			8	25	---	---	---	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													5	5	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	-	AGTAATACACGGCA			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													3	6	---	---	---	---					
IGSF6	10261	broad.mit.edu	37	16	21658474	21658476	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:21658474_21658476delCCT	uc002djg.2	-	1	473_475	c.405_407delAGG	c.(403-408)ggaggg>ggg	p.135_136GG>G	LOC23117_uc021tel.1_Intron|METTL9_uc002dje.3_Intron|METTL9_uc002djf.3_Intron|IGSF6_uc010vbi.2_In_Frame_Del_p.135_136GG>G	NM_005849	NP_005840	O95976	IGSF6_HUMAN	Homo sapiens immunoglobulin superfamily, member 6 (IGSF6), mRNA.	135					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CAGTGTGGTCCCTCCTCCTGTCT	0.468													36	77	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578402	7578403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:7578402_7578403insT	uc002gim.2	-	4	721_722	c.527_528insA	c.(526-528)tgcfs	p.C176fs	TP53_uc002gig.1_Frame_Shift_Ins_p.C176fs|TP53_uc002gih.3_Frame_Shift_Ins_p.C176fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.C44fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.C44fs|TP53_uc002gii.1_Frame_Shift_Ins_p.C44fs|TP53_uc010cni.1_Frame_Shift_Ins_p.C176fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.C176fs|TP53_uc002gij.2_Frame_Shift_Ins_p.C176fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Ins_p.C83fs|TP53_uc002gio.2_Frame_Shift_Ins_p.C44fs|TP53_uc010vug.2_Frame_Shift_Ins_p.C137fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.C176W(22)|p.C176*(20)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.C83*(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.C44*(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(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)		CATGGTGGGGGCAGCGCCTCAC	0.649		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)			23	10	---	---	---	---					
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:36054349_36054351delCTT	uc002oal.1	-	1	120_122	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	31					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601													9	1171	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38882864_38882866delCCT	uc002oim.3	+	2	363_365	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													9	140	---	---	---	---					
ZNF211	10520	broad.mit.edu	37	19	58152473	58152476	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:58152473_58152476delCAAA	uc002qpr.2	+	5	1114_1117	c.811_814delCAAA	c.(811-816)caaacafs	p.Q271fs	ZNF211_uc010yhb.1_Frame_Shift_Del_p.Q211fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.Q220fs|ZNF211_uc002qpq.2_Frame_Shift_Del_p.Q207fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.Q219fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.Q219fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.Q198fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.Q146fs	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	207						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C272F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACGCCACTCAAACAGGGGAGAA	0.471													22	42	---	---	---	---					
