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
SMAD7	4092	broad.mit.edu	37	18	46448082	46448082	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:46448082C>T	ENST00000262158.2	-	4	1227	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313Q|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99Q	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GATTTTGCTCCGCACCTTCTG	0.557000													21	60					0	0	0.608945	0	0
JAG1	182	broad.mit.edu	37	20	10621565	10621565	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:10621565C>A	ENST00000254958.5	-	25	3580	c.3065G>T	c.(3064-3066)cGg>cTg	p.R1022L	JAG1_ENST00000423891.2_Missense_Mutation_p.R863L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1022					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCATCATCCCGTATATCTTC	0.423000									Alagille Syndrome				7	56					0.0381472	0.0399274	0.278610	1	0
BLOC1S6	26258	broad.mit.edu	37	15	45898644	45898644	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:45898644G>A	ENST00000220531.3	+	5	772	c.451G>A	c.(451-453)Gag>Aag	p.E151K	BLOC1S6_ENST00000564765.1_Missense_Mutation_p.E25K|BLOC1S6_ENST00000562384.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000565409.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000565216.1_Missense_Mutation_p.E110K|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000568816.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.E156K|BLOC1S6_ENST00000567461.1_Missense_Mutation_p.E54K|BLOC1S6_ENST00000567740.1_3'UTR	NM_012388.2	NP_036520.1			biogenesis of lysosomal organelles complex-1, subunit 6, pallidin																		GTTGGAAAGGGAGCAGCAACG	0.398000													8	57					0	0	0.307466	0	0
KIF1A	547	broad.mit.edu	37	2	241710435	241710435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:241710435G>A	ENST00000498729.2	-	15	1540	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	KIF1A_ENST00000320389.7_Missense_Mutation_p.R423C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	423					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AACAAGATGCGCTCGTGGAGG	0.647000													38	80					0	0	0.819951	0	0
SORCS2	57537	broad.mit.edu	37	4	7725484	7725484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:7725484G>A	ENST00000507866.2	+	19	2594	c.2485G>A	c.(2485-2487)Gtg>Atg	p.V829M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V657M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	829	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCATGTACGTGAACCTTAC	0.607000													19	185					0	0	0.592651	0	0
CD22	933	broad.mit.edu	37	19	35837577	35837577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:35837577G>A	ENST00000085219.5	+	14	2587	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	CD22_ENST00000341773.6_Missense_Mutation_p.D664N|CD22_ENST00000419549.2_Missense_Mutation_p.D669N|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.D656N|CD22_ENST00000594250.1_Missense_Mutation_p.D664N|CD22_ENST00000536635.2_Missense_Mutation_p.D753N	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	841					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGAAAATGTGGACTATGTGAT	0.562000													8	13					0	0	0.307466	0	0
CTHRC1	115908	broad.mit.edu	37	8	104394752	104394752	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394752C>T	ENST00000330295.5	+	4	798	c.656C>T	c.(655-657)tCa>tTa	p.S219L	CTHRC1_ENST00000520880.1_Missense_Mutation_p.S89L|CTHRC1_ENST00000520337.1_Missense_Mutation_p.S205L	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373000													11	118					0	0	0.479597	0	0
PNRC1	10957	broad.mit.edu	37	6	89793784	89793784	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:89793784A>T	ENST00000336032.3	+	2	970	c.853A>T	c.(853-855)Agt>Tgt	p.S285C	PNRC1_ENST00000354922.3_Missense_Mutation_p.S100C|PNRC1_ENST00000369472.1_Missense_Mutation_p.S100C	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		GGCAAAGTTTAGTGATCCACC	0.408000										Multiple Myeloma(7;0.094)			3	57					0	0	0.115264	0	0
ZNFX1	57169	broad.mit.edu	37	20	47863986	47863986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:47863986C>T	ENST00000396105.1	-	14	5821	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D1859N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1859							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCCCACAATCGCCAATCACA	0.517000													52	114					0	0	0.870114	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137298	121137298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:121137298G>A	ENST00000273666.6	+	27	3684	c.3413G>A	c.(3412-3414)cGt>cAt	p.R1138H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R1114H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1138	v-SNARE coiled-coil homology.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGCTGACCCGTGCACGGATT	0.532000													32	32					0	0	0.769981	0	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000													6	82					0	0	0.248553	0	0
ZNF586	54807	broad.mit.edu	37	19	58290574	58290574	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290574G>C	ENST00000391702.3	+	4	857	c.490G>C	c.(490-492)Gaa>Caa	p.E164Q	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.E207Q|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.M164I|ZNF586_ENST00000598183.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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)		AAAGCGTTATGAATGCAATGA	0.428000													7	150					0	0	0.248553	0	0
PBX2	5089	broad.mit.edu	37	6	32154671	32154671	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:32154671G>A	ENST00000375050.4	-	7	1302	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	344							transcription factor binding	p.G344G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TGAAAGAGCCGCCAGAGCCTT	0.527000													3	49					0	0	0.115264	0	0
NOL9	79707	broad.mit.edu	37	1	6585956	6585956	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:6585956C>T	ENST00000377705.5	-	12	2099	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	689					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGGTTTCTCTTTATGTG	0.413000													8	81					0	0	0.335167	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957445	35957445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:35957445T>C	ENST00000274278.3	-	5	1277	c.920A>G	c.(919-921)cAt>cGt	p.H307R	UGT3A1_ENST00000503189.1_Missense_Mutation_p.H307R|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.H273R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGACTGATGGGTGTTCAA	0.488000													5	55					0	0	0.248553	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:185801399G>T	ENST00000302277.6	+	4	1870	c.1276G>T	c.(1276-1278)Gta>Tta	p.V426L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426						intracellular	zinc ion binding	p.V426I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAGCCATTTGTACCTGTCCT	0.373000													16	85					1.5739e-10	1.80366e-10	0.500413	1	0
CKLF	51192	broad.mit.edu	37	16	66592158	66592158	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:66592158C>T	ENST00000264001.4	+	2	293	c.144C>T	c.(142-144)atC>atT	p.I48I	CKLF-CMTM1_ENST00000532838.1_Intron|CKLF_ENST00000351137.4_Intron|CKLF_ENST00000345436.4_Silent_p.I48I|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Silent_p.I48I|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ATATTGTTATCACTGGATTTG	0.353000													10	51					0	0	0.361761	0	0
MUC17	140453	broad.mit.edu	37	7	100679464	100679464	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100679464G>C	ENST00000306151.4	+	3	4831	c.4767G>C	c.(4765-4767)gaG>gaC	p.E1589D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1589	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAACACCC	0.488000													26	383					0	0	0.667858	0	0
COPG1	22820	broad.mit.edu	37	3	128979469	128979469	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:128979469T>C	ENST00000314797.6	+	12	1051	c.947T>C	c.(946-948)aTg>aCg	p.M316T		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	316					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CAGGTTGCCATGAAGCATCCG	0.517000													13	72					0	0	0.479597	0	0
RASA4CP	401331	broad.mit.edu	37	7	44076313	44076313	+	RNA	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:44076313C>T	ENST00000446874.1	-	0	202																											CGGCGTCGTCCGTGTAGATGA	0.607000													57	78					0	0	0.870114	0	0
KLHL40	131377	broad.mit.edu	37	3	42732383	42732383	+	Missense_Mutation	SNP	G	G	A	rs144187563		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:42732383G>A	ENST00000287777.4	+	5	1740	c.1640G>A	c.(1639-1641)cGt>cAt	p.R547H		NM_152393.2	NP_689606.2			kelch-like family member 40																		CCACAGGAGCGTAGCTCACTC	0.617000													8	74					0	0	0.361761	0	0
ANO8	57719	broad.mit.edu	37	19	17435648	17435648	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:17435648C>T	ENST00000159087.4	-	17	3367	c.3209G>A	c.(3208-3210)gGc>gAc	p.G1070D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1070						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGCCTGCCCGCCCGCCCCGTT	0.711000													15	99					0	0	0.479597	0	0
TRIM46	80128	broad.mit.edu	37	1	155154564	155154564	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:155154564G>A	ENST00000368382.1	+	9	1893	c.1756G>A	c.(1756-1758)Gtc>Atc	p.V586I	TRIM46_ENST00000545012.1_Missense_Mutation_p.V483I|TRIM46_ENST00000368383.3_Missense_Mutation_p.V609I|TRIM46_ENST00000334634.4_Missense_Mutation_p.V609I|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	609	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGTGGGCGTCGGGCTGGA	0.647000													14	37					0	0	0.457914	0	0
CHAC1	79094	broad.mit.edu	37	15	41247690	41247690	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:41247690T>C	ENST00000446533.3	+	3	822	c.513T>C	c.(511-513)taT>taC	p.Y171Y	CHAC1_ENST00000444189.2_Intron|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	171					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCACCTTCTATCCCCAAGATG	0.572000													27	215					0	0	0.706142	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38347663	38347663	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:38347663C>T	ENST00000436615.3	+	9	1303	c.813C>T	c.(811-813)caC>caT	p.H271H	RAPGEFL1_ENST00000456989.2_Silent_p.H326H|RAPGEFL1_ENST00000264644.6_Silent_p.H271H|RAPGEFL1_ENST00000544503.1_Silent_p.H320H	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	477					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGTCACGCACTGGGTGGCCA	0.682000													12	22					0	0	0.457914	0	0
REV3L	5980	broad.mit.edu	37	6	111688580	111688580	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:111688580T>C	ENST00000435970.1	-	16	6993	c.6177A>G	c.(6175-6177)aaA>aaG	p.K2059K	REV3L_ENST00000368802.3_Silent_p.K2137K|REV3L_ENST00000358835.3_Silent_p.K2137K|REV3L_ENST00000368805.1_Silent_p.K2137K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2137					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATTTAATGCTTTGGAATCTG	0.378000								DNA polymerases (catalytic subunits)					14	109					0	0	0.500413	0	0
DTNA	1837	broad.mit.edu	37	18	32418763	32418763	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:32418763C>T	ENST00000444659.1	+	12	1228	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	DTNA_ENST00000399113.3_Silent_p.I409I|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000269191.6_Silent_p.I409I|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000348997.5_Silent_p.I406I|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269190.7_Silent_p.I410I|DTNA_ENST00000269192.7_Silent_p.I118I|DTNA_ENST00000399121.5_Intron	NM_001390.4	NP_001381.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	409	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.I409I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGTTCTCATCGGGTTGTATG	0.502000													6	83					0	0	0.217242	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713516	222713516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:222713516C>T	ENST00000343410.6	-	4	1344	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	429					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATGGGGTCCCCTCGGTCCAC	0.577000													7	94					0	0	0.248553	0	0
PLXNC1	10154	broad.mit.edu	37	12	94648979	94648979	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:94648979G>A	ENST00000258526.4	+	17	3243	c.2994G>A	c.(2992-2994)gaG>gaA	p.E998E	PLXNC1_ENST00000547057.1_Silent_p.E45E	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	998					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTTTGCTGAGCTGCAGATGG	0.393000													8	30					0	0	0.335167	0	0
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:116840418C>T	ENST00000265132.3	-	1	334	c.72G>A	c.(70-72)acG>acA	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617000													9	88					0	0	0.335167	0	0
RNF40	9810	broad.mit.edu	37	16	30774850	30774850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30774850C>G	ENST00000324685.6	+	4	847	c.412C>G	c.(412-414)Ctc>Gtc	p.L138V	RNF40_ENST00000357890.5_Missense_Mutation_p.L138V|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.L138V	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	138					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGACTCCTCTCCCAGAGCC	0.617000													19	46					0	0	0.539581	0	0
FNDC1	84624	broad.mit.edu	37	6	159654483	159654483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:159654483G>A	ENST00000297267.9	+	11	3139	c.2939G>A	c.(2938-2940)cGt>cAt	p.R980H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCCTGCTCGTCCGCCCGCA	0.662000													5	15					0	0	0.335167	0	0
ZNF471	57573	broad.mit.edu	37	19	57035702	57035702	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:57035702C>T	ENST00000308031.5	+	5	399	c.266C>T	c.(265-267)tCt>tTt	p.S89F	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GATTGGGAATCTATATATGTG	0.333000													13	72					0	0	0.479597	0	0
CNTN5	53942	broad.mit.edu	37	11	100211904	100211904	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:100211904A>G	ENST00000524871.1	+	23	3287	c.2997A>G	c.(2995-2997)ccA>ccG	p.P999P	CNTN5_ENST00000418526.2_Silent_p.P925P|CNTN5_ENST00000528682.1_Silent_p.P999P|CNTN5_ENST00000279463.3_Silent_p.P999P|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	999	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCGTCATACCATTAGCCAACG	0.433000													25	94					0	0	0.681144	0	0
GPR65	8477	broad.mit.edu	37	14	88477734	88477734	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:88477734C>G	ENST00000267549.3	+	2	1101	c.543C>G	c.(541-543)atC>atG	p.I181M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	181					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AATGGCAAATCAACCTCAACT	0.413000													5	92					0	0	0.217242	0	0
GPC5	2262	broad.mit.edu	37	13	92345539	92345539	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:92345539C>A	ENST00000377067.3	+	3	796	c.424C>A	c.(424-426)Cag>Aag	p.Q142K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	142						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCTTCGGTTCAGGAGTTCTT	0.408000													11	80					2.27111e-07	2.51102e-07	0.411799	1	0
TTN	7273	broad.mit.edu	37	2	179591911	179591911	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179591911C>T	ENST00000589042.1	-	69	20405	c.20181G>A	c.(20179-20181)atG>atA	p.M6727I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M6410I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5483I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6410	Ig-like 49.						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)			TGAGATTGTTCATCTGTATGA	0.453000													5	78					0	0	0.184627	0	0
CSMD3	114788	broad.mit.edu	37	8	113267582	113267582	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:113267582C>A	ENST00000297405.5	-	62	10181	c.9937G>T	c.(9937-9939)Gtt>Ttt	p.V3313F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3313	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAATGAAACCTCTGACTGG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	33					0.0477658	0.0496637	0.307466	1	0
ZNF704	619279	broad.mit.edu	37	8	81582753	81582753	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:81582753C>T	ENST00000327835.3	-	5	875	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	215						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATGGATGGTTCGGATGTGTTT	0.527000													10	114					0	0	0.435327	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625614	65625614	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:65625614C>T	ENST00000327987.4	-	6	1214	c.963G>A	c.(961-963)caG>caA	p.Q321Q	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	321	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCCGGCCCTGTGCCGTTC	0.642000													8	84					0	0	0.307466	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600794	147600794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:147600794G>A	ENST00000361727.3	+	14	2752	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTAACTGCGACGCGGACTA	0.547000										HNSCC(39;0.1)			8	30					0	0	0.307466	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185155	130185155	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:130185155C>T	ENST00000422113.2	-	2	494	c.168G>A	c.(166-168)gcG>gcA	p.A56A		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAGACGTCCGCGTTGTTGA	0.562000													10	36					0	0	0.335167	0	0
ZFP82	284406	broad.mit.edu	37	19	36896541	36896541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:36896541G>A	ENST00000392161.3	-	4	412	c.170C>T	c.(169-171)tCa>tTa	p.S57L	ZFP82_ENST00000392171.1_Intron	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGCTCCAATGAGGAAATCAC	0.383000													62	101					0	0	0.870114	0	0
SRCAP	10847	broad.mit.edu	37	16	30718977	30718977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30718977C>T	ENST00000262518.4	+	6	962	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.R193*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.R193*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	193	HSA.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAAGCTGCGTCGAATTGCTTC	0.572000													15	57					0	0	0.500413	0	0
RHBDF1	64285	broad.mit.edu	37	16	113739	113739	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:113739C>T	ENST00000262316.6	-	4	450	c.308G>A	c.(307-309)cGc>cAc	p.R103H	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R103H	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	103					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GATGCTCTTGCGCTGCCATTT	0.657000													7	51					0	0	0.307466	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473933	6473933	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:6473933C>T	ENST00000382599.4	-	1	240	c.24G>A	c.(22-24)cgG>cgA	p.R8R	PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	8					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GGTTAATTTTCCGCGTGTCCG	0.667000													31	237					0	0	0.779181	0	0
PRR5	55615	broad.mit.edu	37	22	45130923	45130923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr22:45130923G>A	ENST00000403581.1	+	9	1250	c.641G>A	c.(640-642)aGg>aAg	p.R214K	PRR5_ENST00000336985.6_Missense_Mutation_p.R191K|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.R191K|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_Missense_Mutation_p.R182K|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R191K|ARHGAP8_ENST00000389773.5_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CATGAGTCCAGGGGCGTGACT	0.652000													7	59					0	0	0.248553	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141426	11141426	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:11141426C>T	ENST00000358026.2	+	25	3687	c.3403C>T	c.(3403-3405)Cgg>Tgg	p.R1135W	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1135W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1135W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1135W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1135W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1135W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1135W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1135W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1135W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1135	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1135W(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCGGAGGACCGGGGCATGCT	0.632000			"""F, N, Mis"""		NSCLC								4	27					0	0	0.184627	0	0
NCOR2	9612	broad.mit.edu	37	12	124824693	124824693	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:124824693G>A	ENST00000356219.3	-	38	5722	c.5567C>T	c.(5566-5568)gCc>gTc	p.A1856V	NCOR2_ENST00000405201.1_Missense_Mutation_p.A1849V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A1840V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1410V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A1839V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A1839V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1860					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGTGGGAGGCGGGgcggct	0.677000													25	45					0	0	0.639603	0	0
CRHR2	1395	broad.mit.edu	37	7	30704745	30704745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:30704745G>A	ENST00000471646.1	-	5	901	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CRHR2_ENST00000506074.2_Nonsense_Mutation_p.R162*|CRHR2_ENST00000341843.4_Nonsense_Mutation_p.R148*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.R189*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	162					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGACATTTCGCAGGATAAAG	0.572000													6	81					0	0	0.248553	0	0
ACOT11	26027	broad.mit.edu	37	1	55060253	55060253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:55060253C>T	ENST00000371316.3	+	6	578	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	ACOT11_ENST00000343744.2_Missense_Mutation_p.R166W|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	166					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GATCACGCCGCGGACAGAAGA	0.627000													4	44					0	0	0.184627	0	0
VPS9D1	9605	broad.mit.edu	37	16	89774351	89774351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:89774351C>T	ENST00000561976.1	-	14	1981	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	VPS9D1_ENST00000389386.3_Missense_Mutation_p.G605E					VPS9 domain containing 1																		GCCCTCCTCTCCGATCAGGTA	0.622000													11	77					0	0	0.479597	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607000													6	265					0	0	0.278610	0	0
FBXO41	150726	broad.mit.edu	37	2	73492583	73492583	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:73492583C>T	ENST00000521871.1	-	5	1806	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	FBXO41_ENST00000295133.5_Missense_Mutation_p.R525H|FBXO41_ENST00000520530.2_Missense_Mutation_p.R464H			Q8TF61	FBX41_HUMAN	F-box protein 41	464						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GATGGCCTGGCGCCGCAGGCC	0.701000													3	29					0	0	0.115264	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863399	21863399	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:21863399C>T	ENST00000365779.2	+	3	416	c.335C>T	c.(334-336)tCt>tTt	p.S112F	MBTPS2_ENST00000379484.5_Missense_Mutation_p.S112F|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	112	Poly-Ser.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						tctccctcttcttattcttcc	0.438000													8	60					0	0	0.335167	0	0
DOK6	220164	broad.mit.edu	37	18	67365704	67365704	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:67365704G>A	ENST00000382713.5	+	5	664	c.474G>A	c.(472-474)caG>caA	p.Q158Q	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	158	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCACAATGCAGATCACTCATG	0.438000													17	46					0	0	0.539581	0	0
DOCK1	1793	broad.mit.edu	37	10	128798484	128798484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:128798484C>G	ENST00000280333.6	+	10	1007	c.898C>G	c.(898-900)Cag>Gag	p.Q300E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	300					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTTGTCTGTCAGATTGTTCG	0.448000													4	39					0	0	0.184627	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916174	9916174	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:9916174C>G	ENST00000396573.2	-	11	2424	c.2115G>C	c.(2113-2115)atG>atC	p.M705I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M705I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M705I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M548I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M705I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M705I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	705					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAAATTTGGTCATGTACTGAT	0.468000													9	74					0	0	0.335167	0	0
ASXL1	171023	broad.mit.edu	37	20	31021631	31021631	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:31021631G>A	ENST00000375687.4	+	12	2054	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D539N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	544					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCGGCTTGAAGATCGTCAGTC	0.532000			"""F, N, Mis"""		"""MDS, CMML"""								13	209					0	0	0.411799	0	0
RHOA	387	broad.mit.edu	37	3	49412958	49412958	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:49412958A>G	ENST00000418115.1	-	2	449	c.65T>C	c.(64-66)cTc>cCc	p.L22P	RHOA_ENST00000454011.2_Missense_Mutation_p.L22P|RHOA_ENST00000422781.1_Missense_Mutation_p.L22P	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GAAGACTATGAGCAAGCATGT	0.473000													42	82					0	0	0.834066	0	0
LRRC49	54839	broad.mit.edu	37	15	71302263	71302263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:71302263A>G	ENST00000260382.5	+	13	1785	c.1525A>G	c.(1525-1527)Aca>Gca	p.T509A	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.T514A|LRRC49_ENST00000560691.1_Missense_Mutation_p.T215A|LRRC49_ENST00000560158.2_Missense_Mutation_p.T197A|LRRC49_ENST00000544974.2_Missense_Mutation_p.T499A|LRRC49_ENST00000443425.2_Missense_Mutation_p.T465A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	509						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGTCAATTTTACACTCTGGAA	0.363000													6	35					0	0	0.248553	0	0
DIP2B	57609	broad.mit.edu	37	12	51034594	51034594	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:51034594G>A	ENST00000301180.5	+	3	294	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	87						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGTACCACCGAACTCGATCT	0.468000													15	28					0	0	0.500413	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031779	132031779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:132031779T>C	ENST00000314099.8	-	1	427	c.379A>G	c.(379-381)Agt>Ggt	p.S127G	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	127						integral to membrane				endometrium(1)|lung(1)	2						GCCTCCAAACTTCGTGCTTCT	0.403000													18	107					0	0	0.624587	0	0
BTN2A2	10385	broad.mit.edu	37	6	26384093	26384093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:26384093T>C	ENST00000356709.4	+	2	155	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A2_ENST00000482536.1_Missense_Mutation_p.L15P|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L15P|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L15P|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L15P|BTN2A2_ENST00000432533.2_Missense_Mutation_p.L15P	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	15					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCAGCCTCcctcctcctcctc	0.582000													3	101					0	0	0.217242	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176749	114176749	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:114176749G>A	ENST00000259335.4	-	20	2480	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	KIAA0368_ENST00000338205.5_Silent_p.I649I	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGCCAATGTAGATCTGGACAG	0.473000													15	71					0	0	0.520397	0	0
FAT3	120114	broad.mit.edu	37	11	92532073	92532073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92532073C>T	ENST00000298047.6	+	9	5911	c.5894C>T	c.(5893-5895)aCc>aTc	p.T1965I	FAT3_ENST00000409404.2_Missense_Mutation_p.T1965I|FAT3_ENST00000525166.1_Missense_Mutation_p.T1815I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1965	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCTACAGTACCTCCATGGTC	0.418000										TCGA Ovarian(4;0.039)			35	56					0	0	0.769981	0	0
ADARB2	105	broad.mit.edu	37	10	1230959	1230959	+	Missense_Mutation	SNP	G	G	A	rs141253548	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:1230959G>A	ENST00000381312.1	-	9	2210	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ADARB2_ENST00000381305.1_Missense_Mutation_p.R31C|ADARB2_ENST00000381310.3_Missense_Mutation_p.R138C	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	629	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCCGGCTGGCGCGCCTCGGCG	0.672000													10	80					0	0	0.361761	0	0
CNOT10	25904	broad.mit.edu	37	3	32811403	32811403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:32811403G>A	ENST00000328834.5	+	18	2345	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CNOT10_ENST00000331889.6_Missense_Mutation_p.E650K|CNOT10_ENST00000454516.2_Missense_Mutation_p.E737K	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	677					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CCATCCTAAAGAGGTGCCCCC	0.453000													10	91					0	0	0.411799	0	0
NCAM2	4685	broad.mit.edu	37	21	22696785	22696785	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr21:22696785C>A	ENST00000400546.1	+	6	951	c.702C>A	c.(700-702)gcC>gcA	p.A234A	NCAM2_ENST00000284894.7_Silent_p.A92A|NCAM2_ENST00000535285.1_Silent_p.A259A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	234	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCTGCAGGGCCTCAGGCTCTC	0.507000													7	107					5.18039e-06	5.68756e-06	0.278610	1	0
TUBGCP3	10426	broad.mit.edu	37	13	113181716	113181716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:113181716G>A	ENST00000261965.3	-	12	1604	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.S473L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	473					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGTCATAAACGAAGGAATCAT	0.368000													6	78					0	0	0.217242	0	0
LILRB1	10859	broad.mit.edu	37	19	55146728	55146728	+	Missense_Mutation	SNP	T	T	C	rs139400692	by1000genomes	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:55146728T>C	ENST00000448689.1	+	10	1502	c.1502T>C	c.(1501-1503)aTg>aCg	p.M501T	LILRB1_ENST00000418536.2_Silent_p.D510D|LILRB1_ENST00000396321.2_Silent_p.D526D|LILRB1_ENST00000396315.1_Silent_p.D527D|LILRB1_ENST00000434867.2_Silent_p.D526D|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.D526D|LILRB1_ENST00000324602.7_Silent_p.D527D|LILRB1_ENST00000396327.3_Silent_p.D527D|LILRB1_ENST00000396331.1_Silent_p.D526D|LILRB1_ENST00000396317.1_Silent_p.D510D|LILRB1_ENST00000427581.2_Silent_p.D576D			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	0					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.D526D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGCTGCCGATGCCCAGGAAG	0.612000										HNSCC(37;0.09)			6	399					0	0	0.335167	0	0
VPRBP	9730	broad.mit.edu	37	3	51457623	51457623	+	Missense_Mutation	SNP	C	C	T	rs114108730	by1000genomes	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:51457623C>T	ENST00000335891.5	-	7	1463	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	934					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGGGGGGGCCGTGGCTGAGG	0.597000													15	47					0	0	0.479597	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917928	94917928	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:94917928T>C	ENST00000289495.5	+	17	3792	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	PPP1R9A_ENST00000433881.1_Silent_p.S994S|PPP1R9A_ENST00000433360.1_Silent_p.S1270S|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000340694.4_Silent_p.S994S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	994						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCAGGTTTCTCACTGGTTAA	0.448000										HNSCC(28;0.073)			12	100					0	0	0.411799	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102502895	102502895	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:102502895G>A	ENST00000321521.9	+	18	2506	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G645R|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G645R			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	645					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACTCCATCTGGAAGCATTTC	0.294000													6	38					0	0	0.248553	0	0
JADE2	23338	broad.mit.edu	37	5	133914401	133914401	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:133914401C>T	ENST00000395003.1	+	11	1946	c.1767C>T	c.(1765-1767)gaC>gaT	p.D589D	PHF15_ENST00000282605.4_Silent_p.D633D|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.D590D	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		589					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCTGGTGACCCTGCTAGGA	0.662000													6	32					0	0	0.248553	0	0
FNDC3A	22862	broad.mit.edu	37	13	49777357	49777357	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:49777357G>T	ENST00000492622.2	+	25	3524	c.3219G>T	c.(3217-3219)atG>atT	p.M1073I	FNDC3A_ENST00000398316.3_Missense_Mutation_p.M1017I|FNDC3A_ENST00000541916.1_Missense_Mutation_p.M1073I	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1073	Fibronectin type-III 9.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAGCCAATGAAAGGTGATC	0.328000													15	27					9.16793e-09	1.02812e-08	0.520397	1	0
ZNF529	57711	broad.mit.edu	37	19	37037947	37037947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:37037947G>A	ENST00000334116.7	-	6	1808	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	ZNF529_ENST00000591340.1_Missense_Mutation_p.P505S	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CATTCATAGGGTTTTTCTCCA	0.403000													4	19					0	0	0.150653	0	0
SLC2A14	144195	broad.mit.edu	37	12	7970478	7970478	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:7970478G>A	ENST00000543909.1	-	15	2052	c.1293C>T	c.(1291-1293)tgC>tgT	p.C431C	SLC2A14_ENST00000539924.1_Silent_p.C446C|SLC2A14_ENST00000431042.2_Silent_p.C408C|SLC2A14_ENST00000396589.2_Silent_p.C431C|SLC2A14_ENST00000535295.1_Silent_p.C322C|SLC2A14_ENST00000542546.1_Silent_p.C322C|SLC2A14_ENST00000340749.5_Silent_p.C408C|SLC2A14_ENST00000542505.1_Silent_p.C72C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	431					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCCAGTTGGAGCAGCCGGCCA	0.522000													14	146					0	0	0.520397	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622000													15	148					0	0	0.479597	0	0
ZNF142	7701	broad.mit.edu	37	2	219514052	219514052	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:219514052G>A	ENST00000411696.2	-	5	1358	c.579C>T	c.(577-579)tgC>tgT	p.C193C	ZNF142_ENST00000449707.1_Silent_p.C193C			P52746	ZN142_HUMAN	zinc finger protein 142	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGTTAGGGCACTGGAGGC	0.557000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	37					0	0	0.457914	0	0
NOS3	4846	broad.mit.edu	37	7	150696071	150696071	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:150696071G>A	ENST00000297494.3	+	8	1211	c.854G>A	c.(853-855)cGc>cAc	p.R285H	NOS3_ENST00000484524.1_Missense_Mutation_p.R285H|NOS3_ENST00000461406.1_Missense_Mutation_p.R79H|NOS3_ENST00000467517.1_Missense_Mutation_p.R285H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	285	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAAACGGTCGCTTCGACGTG	0.672000													36	133					0	0	0.788014	0	0
PROKR1	10887	broad.mit.edu	37	2	68882436	68882436	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:68882436A>C	ENST00000303786.3	+	3	1330	c.910A>C	c.(910-912)Acc>Ccc	p.T304P	PROKR1_ENST00000394342.2_Missense_Mutation_p.T304P			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	304						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTACGGCTTCACCATCGTGCG	0.587000													11	93					0	0	0.387290	0	0
RYR2	6262	broad.mit.edu	37	1	237787085	237787085	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:237787085T>G	ENST00000366574.2	+	39	6254	c.5937T>G	c.(5935-5937)ttT>ttG	p.F1979L	RYR2_ENST00000360064.6_Missense_Mutation_p.F1977L|RYR2_ENST00000542537.1_Missense_Mutation_p.F1963L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1979	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTCAATTTTAAGGATGACA	0.383000													3	26					0	0	0.115264	0	0
PRRC2C	23215	broad.mit.edu	37	1	171484973	171484973	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:171484973A>G	ENST00000367742.3	+	5	743	c.501A>G	c.(499-501)ggA>ggG	p.G167G	PRRC2C_ENST00000392078.3_Silent_p.G167G|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Silent_p.G165G|PRRC2C_ENST00000338920.4_Silent_p.G165G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	165							protein C-terminus binding										ACAACTATGGACCTGGACCCA	0.398000													8	42					0	0	0.335167	0	0
UBE3B	89910	broad.mit.edu	37	12	109948159	109948159	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:109948159G>T	ENST00000342494.3	+	17	2347	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N	UBE3B_ENST00000280774.5_Missense_Mutation_p.K584N|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.K584N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	584					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGAACGCCAAGGGTGAGACCT	0.592000													3	27					0.115264	0.119056	0.115264	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52002805	52002805	+	Missense_Mutation	SNP	G	G	A	rs149053840		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:52002805G>A	ENST00000291707.3	-	3	1029	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S207L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	325	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGAGCATCGAGGAGCGAGT	0.667000													12	89					0	0	0.387290	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	33					0	0	0.278610	0	0
CLIC1	1192	broad.mit.edu	37	6	31702009	31702009	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:31702009C>A	ENST00000375780.2	-	3	643	c.71G>T	c.(70-72)tGc>tTc	p.C24F	CLIC1_ENST00000395892.1_Missense_Mutation_p.C24F|CLIC1_ENST00000375784.3_Missense_Mutation_p.C24F|CLIC1_ENST00000375779.2_Missense_Mutation_p.C24F			O00299	CLIC1_HUMAN	chloride intracellular channel 1	24	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GGAGAATGGGCAGTTCCCAAT	0.532000													7	46					0.0381472	0.0399274	0.278610	1	0
PVRL1	5818	broad.mit.edu	37	11	119547811	119547811	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:119547811C>T	ENST00000264025.3	-	4	1382		c.e4+1		PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Splice_Site|PVRL1_ENST00000341398.2_Splice_Site	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCAGCACTTACGTGGTCCAGT	0.577000													13	63					0	0	0.457914	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274427	39274427	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:39274427G>A	ENST00000391413.2	-	1	179	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	47	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCAGCAGCTGGACACACAGC	0.677000													14	194					0	0	0.520397	0	0
SENP7	57337	broad.mit.edu	37	3	101212807	101212807	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:101212807T>C	ENST00000394095.2	-	3	149	c.96A>G	c.(94-96)agA>agG	p.R32R	SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000394094.2_Silent_p.R32R|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000314261.7_Silent_p.R32R	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	32					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTAACATCTTTCTTATCTGAA	0.358000													14	28					0	0	0.520397	0	0
MXD4	10608	broad.mit.edu	37	4	2254190	2254190	+	Missense_Mutation	SNP	T	T	C	rs141784187	by1000genomes	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:2254190T>C	ENST00000337190.2	-	4	567	c.254A>G	c.(253-255)gAc>gGc	p.D85G		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	85	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GCGGGTGCTGTCGGGGCCCAG	0.637000													13	50					0	0	0.411799	0	0
OR2A12	346525	broad.mit.edu	37	7	143792375	143792375	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:143792375T>C	ENST00000408949.2	+	1	235	c.175T>C	c.(175-177)Tat>Cat	p.Y59H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CACACCCATGTATGTCTTCCT	0.463000													5	109					0	0	0.217242	0	0
SRCAP	10847	broad.mit.edu	37	16	30720939	30720939	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30720939C>T	ENST00000262518.4	+	7	1124	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	SRCAP_ENST00000395059.2_Silent_p.L247L|SRCAP_ENST00000344771.4_Silent_p.L247L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	247					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGGACCTTCTGTCTCAGAG	0.547000													32	92					0	0	0.760397	0	0
TTN	7273	broad.mit.edu	37	2	179408943	179408943	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179408943G>T	ENST00000589042.1	-	345	96237	c.96013C>A	c.(96013-96015)Ccc>Acc	p.P32005T	TTN_ENST00000359218.5_Missense_Mutation_p.P23065T|TTN_ENST00000460472.2_Missense_Mutation_p.P22940T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23132T|TTN_ENST00000591111.1_Missense_Mutation_p.P30364T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29437T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30364	Ig-like 142.						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)			CTTTCCACGGGCTCAATTTCA	0.388000													7	54					0.00307968	0.00333455	0.278610	1	0
CCR5	1234	broad.mit.edu	37	3	46415257	46415257	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:46415257G>A	ENST00000343801.4	+	3	1221	c.864G>A	c.(862-864)acG>acA	p.T288T	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.T288T|CCR5_ENST00000445772.1_Silent_p.T288T	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	288			T -> M (in INCCR5-72A).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTGGGATGACGCACTGCTGCA	0.473000													24	376					0	0	0.667858	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			54	34					0	0	0.870114	0	0
CTHRC1	115908	broad.mit.edu	37	8	104394804	104394804	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394804C>T	ENST00000330295.5	+	4	850	c.708C>T	c.(706-708)atC>atT	p.I236I	CTHRC1_ENST00000520880.1_Silent_p.I106I|CTHRC1_ENST00000520337.1_Silent_p.I222I	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	236						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTTCTCGCATCATTATTGAAG	0.343000													9	92					0	0	0.361761	0	0
WBP1	23559	broad.mit.edu	37	2	74687437	74687437	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:74687437C>T	ENST00000393972.3	+	5	744	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Missense_Mutation_p.R147C|WBP1_ENST00000409737.1_Missense_Mutation_p.R144C			Q96G27	WBP1_HUMAN	WW domain binding protein 1	147							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GGCCCCAGGCCGCCCCTTGAC	0.602000													51	247					0	0	0.870114	0	0
CXXC1	30827	broad.mit.edu	37	18	47812525	47812525	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:47812525C>T	ENST00000285106.6	-	4	1040	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CXXC1_ENST00000589940.1_Missense_Mutation_p.R109H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R109H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	109					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGCCTCTTGCGCCCTCCACC	0.642000													56	126					0	0	0.870114	0	0
PCSK5	5125	broad.mit.edu	37	9	78938142	78938142	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:78938142G>A	ENST00000545128.1	+	31	4734	c.4196G>A	c.(4195-4197)gGa>gAa	p.G1399E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	658					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCTATGATGGACTGTGCTTG	0.527000													7	39					0	0	0.307466	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927213	53927213	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:53927213C>A	ENST00000371445.3	+	2	700	c.645C>A	c.(643-645)caC>caA	p.H215Q	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	215	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCAGCATGCACCCCTACTGCC	0.647000													16	146					1.15088e-07	1.28147e-07	0.500413	1	0
ZNF586	54807	broad.mit.edu	37	19	58290633	58290633	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290633G>C	ENST00000391702.3	+	4	916	c.549G>C	c.(547-549)agG>agC	p.R183S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.R226S|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.G184A|ZNF586_ENST00000598183.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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)		AACACAGGAGGATTCACACTG	0.418000													10	157					0	0	0.387290	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820755	162820755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:162820755G>A	ENST00000375514.5	+	22	3203	c.2916G>A	c.(2914-2916)atG>atA	p.M972I	SLC4A10_ENST00000415876.2_Missense_Mutation_p.M961I|SLC4A10_ENST00000446997.1_Missense_Mutation_p.M991I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M961I|SLC4A10_ENST00000421911.1_Missense_Mutation_p.M991I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	991					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTATTCAGATGAGTTGCCTTG	0.393000													3	23					0	0	0.150653	0	0
SBDS	51119	broad.mit.edu	37	7	66459244	66459244	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:66459244G>A	ENST00000246868.2	-	2	396	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	71					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ACGCACTGATGAGATCTTCCT	0.428000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				9	119					0	0	0.411799	0	0
NR1I3	9970	broad.mit.edu	37	1	161200969	161200969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:161200969C>T	ENST00000367983.4	-	7	1043	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	NR1I3_ENST00000511676.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.R254Q|NR1I3_ENST00000437437.2_Missense_Mutation_p.R221Q|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000412844.2_Missense_Mutation_p.R225Q|NR1I3_ENST00000428574.2_Missense_Mutation_p.R250Q|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000367981.3_Missense_Mutation_p.R221Q|NR1I3_ENST00000367979.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000515621.1_Missense_Mutation_p.R175Q|NR1I3_ENST00000506209.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000367980.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000515452.1_3'UTR|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000508740.1_Missense_Mutation_p.R221Q			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	254					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCAGTTTTCGTAGTGTTCC	0.532000													17	29					0	0	0.539581	0	0
FAM71A	149647	broad.mit.edu	37	1	212798487	212798487	+	Nonsense_Mutation	SNP	C	C	T	rs141642686	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:212798487C>T	ENST00000294829.3	+	1	699	c.268C>T	c.(268-270)Cga>Tga	p.R90*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	90										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCTACTGGCACGACCGGCCAC	0.567000													8	72					0	0	0.278610	0	0
KCNH1	3756	broad.mit.edu	37	1	210856624	210856624	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:210856624C>T	ENST00000367007.4	-	11	3057	c.2888G>A	c.(2887-2889)tGa>tAa	p.*963*	KCNH1_ENST00000271751.4_Silent_p.*990*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	0	CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATAGACCTCTCAGCTGGCTCC	0.443000													10	177					0	0	0.387290	0	0
MEOX2	4223	broad.mit.edu	37	7	15652118	15652118	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:15652118G>C	ENST00000262041.5	-	3	1218	c.809C>G	c.(808-810)tCa>tGa	p.S270*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	270					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGACAGCTCTGATGGGAGAAG	0.537000													10	176					0	0	0.335167	0	0
FGFR4	2264	broad.mit.edu	37	5	176520735	176520735	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:176520735G>A	ENST00000292408.4	+	11	1723	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	FGFR4_ENST00000393648.2_Missense_Mutation_p.R425Q|FGFR4_ENST00000292410.3_Missense_Mutation_p.R453Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.R453Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.R493Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	493	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACCCTGCCCGGCCTGACCAA	0.612000										TSP Lung(9;0.080)			5	42					0	0	0.184627	0	0
FAT3	120114	broad.mit.edu	37	11	92495148	92495148	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92495148C>T	ENST00000298047.6	+	4	3813	c.3796C>T	c.(3796-3798)Cgt>Tgt	p.R1266C	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.R1266C|FAT3_ENST00000525166.1_Missense_Mutation_p.R1116C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1266	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCAGAACGTGACCGAAA	0.473000										TCGA Ovarian(4;0.039)			12	117					0	0	0.435327	0	0
CCDC136	64753	broad.mit.edu	37	7	128452358	128452358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:128452358G>C	ENST00000297788.4	+	13	2900	c.2533G>C	c.(2533-2535)Gac>Cac	p.D845H	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	845						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGCCTGAAGACATGGAGGT	0.522000													3	15					0	0	0.115264	0	0
TMED6	146456	broad.mit.edu	37	16	69385672	69385672	+	Translation_Start_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:69385672C>A	ENST00000288025.3	-	0	40				RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6						transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TTTCTGGAGCCTCCTCTGCAG	0.537000													8	32					0.00448238	0.0047873	0.307466	1	0
KIF16B	55614	broad.mit.edu	37	20	16359928	16359928	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:16359928G>A	ENST00000354981.2	-	19	2876	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	KIF16B_ENST00000408042.1_Missense_Mutation_p.R907C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R907C|KIF16B_ENST00000378003.2_Missense_Mutation_p.R133C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	907	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTAGCTGGCGTTCTTTATAT	0.438000													4	63					0	0	0.217242	0	0
TBKBP1	9755	broad.mit.edu	37	17	45787879	45787879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:45787879G>A	ENST00000361722.3	+	9	2584	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	579					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GATGGAGACGGTGGGCTCCGA	0.617000													9	65					0	0	0.361761	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591960	125591960	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:125591960T>C	ENST00000504087.1	-	4	3509	c.2472A>G	c.(2470-2472)caA>caG	p.Q824Q	ANKRD50_ENST00000515641.1_Silent_p.Q645Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	824										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAACATTTCCTTGTGCTGAAG	0.438000													8	86					0	0	0.278610	0	0
HYAL4	23553	broad.mit.edu	37	7	123516944	123516944	+	Missense_Mutation	SNP	C	C	T	rs150077532	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:123516944C>T	ENST00000223026.4	+	5	1819	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A394V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGTGGAACGCGCCCAGTTAC	0.507000													21	72					0	0	0.608945	0	0
OTUD7B	56957	broad.mit.edu	37	1	149943009	149943009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:149943009G>A	ENST00000369135.4	-	3	550	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ATGTCATCCTGCCGCTGGAGG	0.532000													8	117					0	0	0.361761	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64508801	64508801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:64508801G>A	ENST00000303052.7	-	5	827	c.404C>T	c.(403-405)aCa>aTa	p.T135I	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.T135I|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.T108I|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.T135I	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	135	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CAAAGTAAATGTTCGGTCACA	0.468000													21	25					0	0	0.654019	0	0
ACE2	59272	broad.mit.edu	37	X	15605982	15605982	+	Splice_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:15605982C>A	ENST00000427411.1	-	7	913		c.e7-1		ACE2_ENST00000252519.3_Splice_Site	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATGGTTTAATCTGAAAAGCCC	0.368000													14	16					2.32078e-09	2.62132e-09	0.479597	1	0
BAAT	570	broad.mit.edu	37	9	104124824	104124824	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:104124824C>T	ENST00000259407.2	-	4	1251	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	BAAT_ENST00000395051.3_Silent_p.R381R	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	381					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCAGTGTAACCTCAAATCGT	0.537000													6	47					0	0	0.217242	0	0
KALRN	8997	broad.mit.edu	37	3	124132333	124132333	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:124132333A>G	ENST00000360013.3	+	14	2484	c.2357A>G	c.(2356-2358)gAc>gGc	p.D786G	KALRN_ENST00000460856.1_Missense_Mutation_p.D786G|KALRN_ENST00000240874.3_Missense_Mutation_p.D786G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	786					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGAGCTAGACGCCTGGAAT	0.527000													5	40					0	0	0.184627	0	0
VDAC3	7419	broad.mit.edu	37	8	42260958	42260958	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:42260958G>A	ENST00000392935.3	+	8	827	c.684G>A	c.(682-684)ctG>ctA	p.L228L	VDAC3_ENST00000521158.1_Silent_p.L228L|VDAC3_ENST00000022615.4_Silent_p.L227L|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	227					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGTACATGCTGGATTGTAGAA	0.413000													4	113					0	0	0.150653	0	0
NSA2	10412	broad.mit.edu	37	5	74069827	74069827	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:74069827C>T	ENST00000296802.5	+	5	1026	c.657C>T	c.(655-657)gtC>gtT	p.V219V		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	219					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						AAGGTACTGTCATTGAAGTAA	0.423000													7	79					0	0	0.278610	0	0
INSM2	84684	broad.mit.edu	37	14	36004658	36004658	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:36004658C>A	ENST00000307169.3	+	1	1411	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCTCAGGGCCCCTACACGG	0.682000													7	70					1.6384e-10	1.86398e-10	0.248553	1	0
SNX29	92017	broad.mit.edu	37	16	12223537	12223537	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:12223537G>A	ENST00000566228.1	+	13	1586	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	SNX29_ENST00000306030.3_Missense_Mutation_p.R121Q|SNX29_ENST00000323433.4_Missense_Mutation_p.R121Q	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	121					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGCGCTCCGGCAAGAGGTG	0.607000													7	20					0	0	0.278610	0	0
HMCN1	83872	broad.mit.edu	37	1	185953314	185953314	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:185953314C>T	ENST00000271588.4	+	19	3033	c.2804C>T	c.(2803-2805)cCt>cTt	p.P935L	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.P935L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	935	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCCAAAATCCTTACATCACT	0.383000													10	49					0	0	0.335167	0	0
AKAP6	9472	broad.mit.edu	37	14	33015022	33015022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:33015022C>T	ENST00000280979.4	+	4	1333	c.1163C>T	c.(1162-1164)aCa>aTa	p.T388I	AKAP6_ENST00000557354.1_Missense_Mutation_p.T388I|AKAP6_ENST00000557272.1_Missense_Mutation_p.T388I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	388					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACGCAGCCTACATTGCCAAAA	0.418000													9	47					0	0	0.307466	0	0
SAA2	6289	broad.mit.edu	37	11	18267001	18267001	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:18267001G>C	ENST00000526900.1	-	4	475	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000256733.4_Missense_Mutation_p.Q98E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.Q98E|SAA2_ENST00000530400.1_Intron					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						TTGGCAGCCTGATCGGCCAGC	0.552000													9	111					0	0	0.335167	0	0
ADCY6	112	broad.mit.edu	37	12	49176704	49176704	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:49176704C>T	ENST00000307885.4	-	1	1208	c.514G>A	c.(514-516)Gca>Aca	p.A172T	ADCY6_ENST00000357869.3_Missense_Mutation_p.A172T|ADCY6_ENST00000550422.1_Missense_Mutation_p.A172T	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	172					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CGGGCGGGTGCGGCGTGGAAA	0.647000													7	100					0	0	0.278610	0	0
ARID1A	8289	broad.mit.edu	37	1	27057789	27057790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:27057789_27057790insT	ENST00000324856.7	+	3	1868_1869	c.1497_1498insT	c.(1498-1500)tatfs	p.Y500fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.Y117fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.Y500fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	500					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAACCTTCGTATCAGCAGCA	0.604			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								240	357	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													7	64	---	---	---	---					
PLEKHG4B	153478	broad.mit.edu	37	5	162962	162962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:162962delG	ENST00000283426.6	+	11	1757	c.1707delG	c.(1705-1707)gtgfs	p.V569fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	569					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCAGGTGTGGCAGTGCTGA	0.647													2	4	---	---	---	---					
E2F3	1871	broad.mit.edu	37	6	20402595	20402597	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:20402595_20402597delCGC	ENST00000346618.3	+	1	198_200	c.132_134delCGC	c.(130-135)ttcgcc>ttc	p.A53del		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	53	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCCCCGGCTTcgccgccgccgcc	0.724													19	692	---	---	---	---					
VGF	7425	broad.mit.edu	37	7	100807026	100807028	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100807026_100807028delCCT	ENST00000249330.2	-	2	1336_1338	c.1097_1099delAGG	c.(1096-1101)gaggcg>gcg	p.E366del	VGF_ENST00000445482.2_In_Frame_Del_p.E366del	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	366	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					tcctgctccgcctcctcctcctc	0.744													2	4	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													7	187	---	---	---	---					
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	RNA	INS	-	-	T	rs57593482		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													4	3	---	---	---	---					
LOC100506125	100506125	broad.mit.edu	37	12	49183367	49183367	+	RNA	DEL	G	G	-	rs10711161		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:49183367delG	ENST00000549864.1	+	0	9																											ccctgccccagccccagcccc	0.657													5	4	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061857	38061858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:38061857_38061858insA	ENST00000250448.2	-	2	192_193	c.131_132insT	c.(130-132)atgfs	p.M44fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.M11fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	44					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGTAGGTGTTCATGGAGTTCAT	0.614													18	96	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223344	71223346	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:71223344_71223346delCTT	ENST00000405159.3	-	2	343_345	c.279_281delAAG	c.(277-282)agaagt>agt	p.R93del	FAM104A_ENST00000403627.3_In_Frame_Del_p.R93del|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	93										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTGCTACTTCTTTTGGTCT	0.409													7	66	---	---	---	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													7	90	---	---	---	---					
IRF2BP1	26145	broad.mit.edu	37	19	46388156	46388157	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:46388156_46388157insCA	ENST00000302165.3	-	1	1219_1220	c.876_877insTG	c.(874-879)gtggctfs	p.A293fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ATCTGGCGAGCCACTGCCAGGA	0.594													9	126	---	---	---	---					
ZNF341	84905	broad.mit.edu	37	20	32371588	32371589	+	Frame_Shift_Ins	INS	-	-	G	rs139829835		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:32371588_32371589insG	ENST00000375200.1	+	12	2135_2136	c.1770_1771insG	c.(1771-1773)gggfs	p.G591fs	ZNF341_ENST00000342427.2_Frame_Shift_Ins_p.G584fs	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCACGGCAGCGGGGGCAGGTT	0.614													11	163	---	---	---	---					
LOC63930	63930	broad.mit.edu	37	20	61659432	61659433	+	RNA	INS	-	-	G	rs140131983	by1000genomes	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:61659432_61659433insG	ENST00000607802.1	+	0	91					NR_033370.1																						accggtggggaggggccggtgg	0.723													5	6	---	---	---	---					
LOC284930	284930	broad.mit.edu	37	22	48249360	48249365	+	RNA	DEL	AGAGGA	AGAGGA	-	rs67171416		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr22:48249360_48249365delAGAGGA	ENST00000423737.1	+	0	1125																											gagaaggaggagaggaagaggaagag	0.417													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44833924	44833924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:44833924delC	ENST00000377967.4	+	4	389	c.348delC	c.(346-348)tacfs	p.Y116fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Y116fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Y116fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Y116fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	116					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATCTGCATACCAGAGGTACT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								23	21	---	---	---	---