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
AHNAK2	113146	broad.mit.edu	37	14	105419464	105419464	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr14:105419464C>T	uc010axc.1	-	6	2444	c.2324G>A	c.(2323-2325)gGc>gAc	p.G775D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G675D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	775						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGAGGTC	0.632000													93	177					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049642	239049642	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:239049642G>C	uc002vxr.2	+	1	354	c.247G>C	c.(247-249)Gtg>Ctg	p.V83L		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	83	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGCCCGCCGTGGTGGGACA	0.672000													59	136					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr20:470440T>C	uc002wdw.1	-	9	1100	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_uc002wdx.1_Missense_Mutation_p.H236R|CSNK2A1_uc002wdy.1_Missense_Mutation_p.H100R	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	236	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.H236R(4)|p.G235A(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373000													3	43					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10800225	10800225	+	Splice_Site	SNP	G	G	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:10800225G>C	uc001mja.3	+	25	3245	c.3096_splice	c.e25-1	p.G1032_splice		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	1032	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCTTTGCCAGACATCCCAGG	0.448000													13	23					0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43038170	43038170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr6:43038170C>T	uc003otw.1	+	6	1331	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.R320W|KLC4_uc011dvd.1_Missense_Mutation_p.R243W|KLC4_uc003otx.1_Missense_Mutation_p.R320W|KLC4_uc003oty.1_Missense_Mutation_p.R320W|KLC4_uc003otz.1_Missense_Mutation_p.R320W	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	320						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCTGTGCCAGCGGGCACTGGA	0.557000											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462694	5462694	+	Silent	SNP	T	T	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:5462694T>A	uc010qze.2	-	0	90	c.51A>T	c.(49-51)acA>acT	p.T17T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGCCTGTCAGCTGGA	0.522000													26	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069310	9069310	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:9069310A>G	uc002mkp.3	-	2	18340	c.18136T>C	c.(18136-18138)Tct>Cct	p.S6046P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6048	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCATCATAGATCCAGTAACC	0.458000													45	87					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489434	20489434	+	RNA	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:20489434C>T	uc001ytf.1	+	2		c.422C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		CACTGAAGGACCAGATCACCA	0.413000													5	62					0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	144					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:78290635C>T	uc002bcy.4	-	12	2759	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_uc010bla.3_Missense_Mutation_p.D903N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	920						intracellular	Rab GTPase activator activity|protein binding	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													3	18					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8940605	8940605	+	Silent	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:8940605G>A	uc002qzc.2	-	8	1007	c.825C>T	c.(823-825)ggC>ggT	p.G275G	KIDINS220_uc010yiv.1_Silent_p.G41G|KIDINS220_uc002qzd.2_Silent_p.G233G|KIDINS220_uc010yiw.1_Silent_p.G276G	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	275					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTGACAGCGCCAATCAACA	0.373000													5	179					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135487899	135487899	+	Silent	SNP	T	T	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:135487899T>C	uc004ezu.1	+	22	8994	c.8703T>C	c.(8701-8703)taT>taC	p.Y2901Y	GPR112_uc010nsb.1_Silent_p.Y2696Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2901					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCTTATTTTTGCCTCA	0.368000													4	29					0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19519049	19519049	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:19519049T>C	uc002dgh.3	-	3	760	c.596A>G	c.(595-597)aAt>aGt	p.N199S	GDE1_uc002dgi.3_Missense_Mutation_p.N89S	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	199	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GACCACACTATTATTATACAG	0.318000													24	50					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:89402162G>A	uc010upo.1	+	11	6720	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_uc010upp.1_Missense_Mutation_p.A2116T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2116					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562000													19	60					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228347	111228347	+	Silent	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:111228347C>T	uc001plg.4	-	3	534	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	93					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCAGGGTGGCCGGGGTGGGCT	0.627000			T	BCL6	NHL								3	41					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155298502	155298502	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:155298502C>T	uc003inw.2	-	2	329	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	DCHS2_uc003inx.2_Missense_Mutation_p.R716Q	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGGTCGATCCGGAATGCCTG	0.468000													29	59					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000													6	57					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	by1000genomes	TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:23205098G>A	uc001yvg.3	-	1		c.697C>T			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		CTGGAAGAACGTGGTTGCCAC	0.373000													3	14					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067417	46067417	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:46067417C>T	uc003gxb.3	-	3	658	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R169*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTCCAAATTCGAAGCAGACG	0.323000													21	33					0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95217071	95217071	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr7:95217071C>T	uc003uoa.3	-	7	1158	c.838G>A	c.(838-840)Gtt>Att	p.V280I	PDK4_uc003unz.3_Missense_Mutation_p.V68I	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	280	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCAAGACAACAATAACCTCT	0.388000													3	34					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797552	52797552	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:52797552C>T	uc001sai.1	-	1	668	c.553G>A	c.(553-555)Ggg>Agg	p.G185R		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	185	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis	p.G185R(2)|p.S184fs*1(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ACGCGGTCCCCGGACACACAG	0.592000													41	103					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504094	70504094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:70504094C>T	uc001dep.3	+	18	2503	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	LRRC7_uc009wbg.3_Nonsense_Mutation_p.Q109*|LRRC7_uc001deq.3_Nonsense_Mutation_p.Q66*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	825						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAACTCGAGCAGTCTACACA	0.493000													30	45					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27599352	27599352	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:27599352C>T	uc002rkg.1	+	13	1486	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	SNX17_uc010ylj.1_Missense_Mutation_p.P402S|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.P208S|SNX17_uc010yll.1_Missense_Mutation_p.P208S|SNX17_uc010ylm.1_Missense_Mutation_p.P208S|SNX17_uc010yln.1_Missense_Mutation_p.P410S|SNX17_uc010ylo.1_Missense_Mutation_p.P340S|SNX17_uc010ylp.1_Missense_Mutation_p.P397S|SNX17_uc010ylk.1_Missense_Mutation_p.P208S|SNX17_uc010eza.1_Missense_Mutation_p.P208S|SNX17_uc010ylq.1_Missense_Mutation_p.P208S	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	422					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGAGTCACCTGATGCCAC	0.547000													32	99					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:8290795G>A	uc001qtz.1	+	5	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_uc009zga.1_Missense_Mutation_p.R170H|CLEC4A_uc001qub.1_Missense_Mutation_p.R176H|CLEC4A_uc001quc.1_Missense_Mutation_p.R137H|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	209	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433000													9	70					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767311	73767311	+	Silent	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr10:73767311C>T	uc001jsn.3	+	2	962	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	174					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CAGTGTCCTTCGAGCCGGGGG	0.647000													6	17					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615227	36615227	+	Silent	SNP	A	A	G			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:36615227A>G	uc021qge.1	-	0	492	c.492T>C	c.(490-492)tcT>tcC	p.S164S	RAG2_uc021qgc.1_Silent_p.S164S|RAG2_uc021qgd.1_Silent_p.S164S|RAG2_uc001mwv.4_Silent_p.S164S|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	164					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCTGTGGGTAGAAGGCATGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis				40	63					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18856727	18856727	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:18856727C>T	uc010ebv.3	+	3	474	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRTC1_uc002nkb.4_Missense_Mutation_p.S113F|CRTC1_uc010ebw.3_5'Flank	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	113					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CGGCTCGGCTCCCCACACCGC	0.692000													35	62					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190360	58190360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:58190360G>T	uc010rkg.2	-	0	427	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C125C(2)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGGGTTTGCACACTGCTG	0.507000													28	49					0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048479	41048479	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:41048479T>C	uc003jmj.4	-	15	2121	c.1631A>G	c.(1630-1632)aAa>aGa	p.K544R	HEATR7B2_uc003jmi.4_Missense_Mutation_p.K99R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	544							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTCTACCAATTTTGGGTGAAT	0.478000													5	76					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:77766907G>A	uc003yau.2	+	9	8137	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2539N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2539						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E2584K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507000										HNSCC(33;0.089)			4	48					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40744	40744	+	Silent	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrGL000218.1:40744G>A	uc011mfn.2	-	2	275	c.186C>T	c.(184-186)tcC>tcT	p.S62S	LOC100233156_uc003jah.2_Silent_p.S62S					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CCAGGTCCTCGGAGGTGTCGC	0.647000													8	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584367	179584367	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179584367G>T	uc021vsy.1	-	78	20345	c.20120C>A	c.(20119-20121)gCc>gAc	p.A6707D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3368D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7634	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6707R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCATTTCGGCACAGGGGAT	0.408000													5	117					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135390426	135390426	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:135390426C>T	uc003lbf.4	+	9	1447	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	TGFBI_uc003lbg.4_Missense_Mutation_p.A162V|TGFBI_uc003lbh.4_Missense_Mutation_p.A255V|TGFBI_uc011cyb.2_Missense_Mutation_p.A255V	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	429	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAATTGATGCCCATACAAGG	0.453000													5	333					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105198937	105198937	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:105198937C>G	uc001tla.3	-	9	1882	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	572						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						TTATTAGTCTCCAACATCTCC	0.393000													5	264					0	0	1	0	0
RFXANK	8625	broad.mit.edu	37	19	19309477	19309477	+	Silent	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:19309477G>A	uc002nls.3	+	7	1081	c.576G>A	c.(574-576)acG>acA	p.T192T	RFXANK_uc002nlt.3_Silent_p.T169T|RFXANK_uc002nlu.3_Silent_p.T170T|RFXANK_uc002nlv.3_Silent_p.T192T|RFXANK_uc021uqt.1_Silent_p.T191T	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ATGGAGGGACGCCACTGCTGT	0.592000													34	61					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148069054	148069054	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:148069054G>T	uc004fcp.3	+	19	4260	c.3781G>T	c.(3781-3783)Gat>Tat	p.D1261Y	AFF2_uc004fcq.3_Missense_Mutation_p.D1251Y|AFF2_uc004fcr.3_Missense_Mutation_p.D1222Y|AFF2_uc011mxb.2_Missense_Mutation_p.D1226Y|AFF2_uc004fcs.3_Missense_Mutation_p.D1226Y|AFF2_uc011mxc.2_Missense_Mutation_p.D902Y	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1261					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.W1260*(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACACTGGGATATGGCCGA	0.478000													46	23					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328501	48328501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:48328501A>T	uc010rhu.2	+	0	727	c.727A>T	c.(727-729)Atc>Ttc	p.I243F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTCACACGTAATCACTGTCCT	0.453000													41	93					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880765	152880765	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr3:152880765C>A	uc003ezr.3	+	0	737	c.283C>A	c.(283-285)Ccc>Acc	p.P95T		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	95					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGACATCAAGCCCATGCGGGA	0.612000													4	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179623770	179623770	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179623770G>A	uc021vsy.1	-	43	10469	c.10244C>T	c.(10243-10245)aCg>aTg	p.T3415M	TTN_uc021vsz.1_Missense_Mutation_p.T3369M|TTN_uc021vta.1_Missense_Mutation_p.T3369M|TTN_uc021vtb.1_Missense_Mutation_p.T3369M|TTN_uc002umz.1_Missense_Mutation_p.T76M|TTN_uc002unb.2_Missense_Mutation_p.T3415M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4359	Ig-like 20.						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)			AGCAACAAACGTGTAAGTTCC	0.383000													19	52					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048354	90048354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:90048354C>T	uc001dni.3	+	6	652	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	LRRC8B_uc001dnh.3_Nonsense_Mutation_p.Q49*|LRRC8B_uc001dnj.3_Nonsense_Mutation_p.Q49*	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	49						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CCAGCTGACGCAGAGCAGGGT	0.507000													5	87					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464996	110464996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:110464996delG	uc003yne.3	+	42	6661	c.6557delG	c.(6556-6558)tggfs	p.W2186fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2186	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTTCTCATGGGGGGGAAAA	0.388										HNSCC(38;0.096)			2	4	---	---	---	---					
ZFPM1	161882	broad.mit.edu	37	16	88593283	88593283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:88593283delC	uc002fkv.3	+	4	497	c.464delC	c.(463-465)gccfs	p.A155fs		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	155					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTGCCCCAGGCCCTGACTGAG	0.677													2	4	---	---	---	---					
