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
TRRAP	8295	broad.mit.edu	37	7	98592453	98592453	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:98592453A>G	ENST00000359863.4	+	66	10458	c.10249A>G	c.(10249-10251)Aaa>Gaa	p.K3417E	TRRAP_ENST00000446306.3_Missense_Mutation_p.K3406E|TRRAP_ENST00000355540.3_Missense_Mutation_p.K3388E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3417					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGAAGCTGAAAGGCCAGTT	0.552000													80	19					0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521714	6521714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:6521714C>T	ENST00000377782.3	-	10	1128	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R300Q|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.R162Q|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R308Q|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.R345Q	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	345	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCCAGCGCCGCGCTGGGAC	0.692000													3	12					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6219573	6219573	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:6219573C>T	ENST00000262450.3	-	3	309	c.210G>A	c.(208-210)ggG>ggA	p.G70G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	70	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATCATTGCTCCCCTGGAAAA	0.542000													6	7					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11660528	11660528	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:11660528A>C	ENST00000592923.1	+	8	1239	c.662A>C	c.(661-663)aAg>aCg	p.K221T	CNN1_ENST00000535659.2_Missense_Mutation_p.K221T|CNN1_ENST00000252456.2_Missense_Mutation_p.K271T|CNN1_ENST00000544952.1_Missense_Mutation_p.K251T			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	271					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TACGACCCCAAGTACTGTCTG	0.622000													13	73					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3823885	3823885	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:3823885C>T	ENST00000497571.1	-	2	884	c.624G>A	c.(622-624)agG>agA	p.R208R	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Silent_p.R208R|KLF6_ENST00000469435.1_Silent_p.R208R	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	208					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGTAAACTTTCCTGCAGCCGT	0.657000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52662482	52662482	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:52662482G>A	ENST00000399231.3	-	22	3193	c.2950C>T	c.(2950-2952)Cgg>Tgg	p.R984W	MYO5A_ENST00000358212.6_Missense_Mutation_p.R984W|MYO5A_ENST00000356338.6_Missense_Mutation_p.R984W|MYO5A_ENST00000553916.1_Missense_Mutation_p.R984W|MYO5A_ENST00000399233.2_Missense_Mutation_p.R984W	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	984					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTAAGGACCCGCCCAGTGGCA	0.448000													41	7					0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82403797	82403797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:82403797G>A	ENST00000339284.2	+	7	1464	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	SH2D4B_ENST00000470604.2_Missense_Mutation_p.G418R|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R297Q|SH2D4B_ENST00000372150.3_3'UTR	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	0	SH2.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAACCCTGCGGACAGAGGGA	0.373000													14	59					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958327	57958327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:57958327G>A	ENST00000311591.3	+	1	422	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCCTATGACCGCTACACGGCC	0.567000													45	88					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930266	46930266	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:46930266C>T	ENST00000264318.3	-	9	2623	c.1641G>A	c.(1639-1641)atG>atA	p.M547I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	547					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATTTCTCCATAGTGTCCT	0.303000													3	119					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463696	104463696	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:104463696C>A	ENST00000413579.1	-	5	1291	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_3'UTR|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	394						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AAGCAAGTATCCCTCCGTGAA	0.488000													121	19					3.6533e-62	4.33443e-62	1	1	0
KDM4C	23081	broad.mit.edu	37	9	7103807	7103807	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:7103807G>A	ENST00000381309.3	+	18	3112	c.2547G>A	c.(2545-2547)gaG>gaA	p.E849E	KDM4C_ENST00000442236.2_Silent_p.E594E|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000381306.3_Silent_p.E849E|KDM4C_ENST00000428870.2_Silent_p.E536E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	849					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TACTGATGGAGCCTGATGACT	0.552000													28	59					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	51					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131130435	131130435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:131130435G>A	ENST00000357668.1	-	19	1879	c.1852C>T	c.(1852-1854)Cat>Tat	p.H618Y	ASAP1_ENST00000518721.1_Missense_Mutation_p.H618Y			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	618					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.H618Y(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCAACCAAATGGAGAGATGTC	0.393000													3	81					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3824277	3824277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:3824277C>A	ENST00000497571.1	-	2	492	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	KLF6_ENST00000542957.1_Nonsense_Mutation_p.E78*|KLF6_ENST00000469435.1_Nonsense_Mutation_p.E78*	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	78					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		ATCTTCAGTTCGGATTCCTCC	0.483000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	159					0.00278032	0.0028833	1	1	0
HRNR	388697	broad.mit.edu	37	1	152188034	152188034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152188034C>G	ENST00000368801.2	-	3	6146	c.6071G>C	c.(6070-6072)gGa>gCa	p.G2024A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2024					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGATGACTGTCCTGATGCAGA	0.562000													84	269					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482387	140482387	+	Missense_Mutation	SNP	G	G	T	rs113521664		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:140482387G>T	ENST00000231130.2	+	1	2154	c.2154G>T	c.(2152-2154)agG>agT	p.R718S		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		718					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAGCAGGGCGGCCTCGG	0.667000													90	82					1.54771e-57	1.82084e-57	1	1	0
ZNF652	22834	broad.mit.edu	37	17	47388796	47388796	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:47388796T>C	ENST00000362063.2	-	5	1505	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ZNF652_ENST00000430262.2_Missense_Mutation_p.Y396C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTACTTGTACTGAAACCT	0.458000													106	160					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604519	140604519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:140604519G>A	ENST00000239449.4	+	1	1442	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	PCDHB14_ENST00000515856.2_Missense_Mutation_p.G328D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		481	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACTCAGGCACCAACGCC	0.647000													70	124					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62393905	62393905	+	Silent	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:62393905T>A	ENST00000346178.4	-	23	2607	c.2592A>T	c.(2590-2592)ggA>ggT	p.G864G	GANAB_ENST00000534779.1_Silent_p.G750G|GANAB_ENST00000540933.1_Silent_p.G745G|GANAB_ENST00000356638.3_Silent_p.G842G	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	842					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAAAGAGCTCTCCTTGAGCTG	0.552000													29	79					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:124857495A>C	ENST00000529051.1	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													3	73					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	86					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:22155320C>T	ENST00000397126.4	-	4	2664	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373000													17	67					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232186	33232186	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:33232186G>C	ENST00000445902.2	-	14	1707	c.1489C>G	c.(1489-1491)Cag>Gag	p.Q497E	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.Q372E	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	497					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCTAGGCGCTGGGGGTCAGTG	0.557000													43	51					0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16735637	16735637	+	RNA	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:16735637G>A	ENST00000579062.1	-	0	251																											CTTCCAGGTCGGCGTTGGCCT	0.597000													5	269					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728756	122728756	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:122728756G>A	ENST00000512454.1	+	5	752	c.536G>A	c.(535-537)aGt>aAt	p.S179N	EXOSC9_ENST00000379663.3_Missense_Mutation_p.S195N|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.S195N			Q06265	EXOS9_HUMAN	exosome component 9	195	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ATTTGTGTCAGTTTTGCCTTT	0.368000													10	77					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:1313343C>A	ENST00000296839.2	+	1	669	c.404C>A	c.(403-405)tCg>tAg	p.S135*		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687000													31	25					1.04594e-18	1.20026e-18	1	1	0
RBL1	5933	broad.mit.edu	37	20	35724278	35724278	+	Silent	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:35724278C>A	ENST00000373664.3	-	1	120	c.54G>T	c.(52-54)ggG>ggT	p.G18G	RBL1_ENST00000598590.1_Silent_p.S30S|RBL1_ENST00000344359.3_Silent_p.G18G	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	18					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTAGCGCCTCCCCGGCTGCGG	0.697000													5	4					3.09899e-07	3.33737e-07	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50669504	50669504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:50669504C>T	ENST00000355832.5	-	19	3955	c.3877G>A	c.(3877-3879)Gcc>Acc	p.A1293T	ERCC6_ENST00000542458.1_Missense_Mutation_p.A663T|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1293					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTTTCAGGGCATCCTGGGCC	0.592000								Direct reversal of damage;Nucleotide excision repair (NER)					21	28					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124354930	124354930	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:124354930T>C	ENST00000409039.3	+	43	7208	c.7183T>C	c.(7183-7185)Tat>Cat	p.Y2395H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2395					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCAACCTTGTATGACTTTCA	0.388000													20	21					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41008400	41008400	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:41008400A>C	ENST00000308423.2	+	4	2285	c.2125A>C	c.(2125-2127)Aac>Cac	p.N709H	AOC3_ENST00000591562.1_Missense_Mutation_p.N166H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	709					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCGACCCTATAACTTCTTTGA	0.572000													10	76					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17124813	17124813	+	Silent	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:17124813T>C	ENST00000389169.5	-	8	1363	c.909A>G	c.(907-909)ggA>ggG	p.G303G	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000285071.4_Intron	NM_144606.5	NP_653207.1	Q8NFG4	FLCN_HUMAN	folliculin	0					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCACGGCCATCCGGGCCAAG	0.647000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				15	150					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285809	152285809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152285809C>G	ENST00000368799.1	-	3	1588	c.1553G>C	c.(1552-1554)gGa>gCa	p.G518A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	518	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCACGAATGGT	0.597000									Ichthyosis				9	1087					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64390062	64390062	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:64390062G>A	ENST00000262043.3	+	3	746	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PHF3_ENST00000393387.1_Splice_Site_p.E136K|PHF3_ENST00000509330.1_Splice_Site_p.E136K			Q92576	PHF3_HUMAN	PHD finger protein 3	136					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATGGCACAAGGTAATCCTTT	0.368000													77	73					0	0	1	0	0
POLR1D	51082	broad.mit.edu	37	13	28197152	28197152	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:28197152G>C	ENST00000302979.3	+	3	1189	c.167G>C	c.(166-168)cGt>cCt	p.R56P	POLR1D_ENST00000399697.3_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.R56P|POLR1D_ENST00000465887.1_Intron	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	56			R -> C (in TCS2).		termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	p.R56H(1)		endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		AATTCTCTACGTTACATGATC	0.453000													17	52					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730858	100730858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:100730858C>T	ENST00000306085.6	+	3	562	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	89					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTGAAGGCCCGGGCCTGTGG	0.706000													5	61					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877696	28877696	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:28877696C>T	ENST00000337120.5	+	1	3572	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SH2B1_ENST00000359285.5_Missense_Mutation_p.P94L|SH2B1_ENST00000395532.4_Missense_Mutation_p.P94L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.P94L|SH2B1_ENST00000545570.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	94	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ATCCTGGCTCCCCTGAGCCCT	0.652000													15	16					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	78					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7870171	7870171	+	Silent	SNP	G	G	A	rs150755827		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:7870171G>A	ENST00000381042.4	-	6	659	c.489C>T	c.(487-489)gaC>gaT	p.D163D	PNPLA4_ENST00000537427.1_Silent_p.D76D|PNPLA4_ENST00000444736.1_Silent_p.D163D	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	163	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGAGGCCTCCGTCCACCCACT	0.542000													26	4					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	50					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210334177	210334177	+	Silent	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:210334177T>C	ENST00000537238.1	+	9	1735	c.1344T>C	c.(1342-1344)acT>acC	p.T448T	SYT14_ENST00000367015.1_Silent_p.T448T|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Silent_p.T512T|SYT14_ENST00000367019.1_Silent_p.T505T|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000422431.1_Silent_p.T550T|SYT14_ENST00000472886.1_Silent_p.T486T	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	486	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATAAGGAAACTTTTGTCTTTC	0.408000													73	12					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:64033975C>A	ENST00000540288.1	+	29	3468	c.3365C>A	c.(3364-3366)aCg>aAg	p.T1122K	PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055K|PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGAACTGACGGAGATTAAC	0.652000													20	90					6.21321e-17	7.07195e-17	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433184	73433184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:73433184C>T	ENST00000263666.4	-	10	2647	c.2533G>A	c.(2533-2535)Ggg>Agg	p.G845R	PDZRN3_ENST00000462146.2_Missense_Mutation_p.G502R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G567R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G502R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G562R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	845							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCGGCTCCCGTCGCTGGCT	0.667000													14	11					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34810899	34810899	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:34810899T>C	ENST00000299505.6	+	3	1456	c.583T>C	c.(583-585)Tct>Cct	p.S195P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	195										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGTGGCTCACTCTTGCTTTGC	0.532000													3	140					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735003	52735003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr14:52735003C>A	ENST00000306051.2	+	1	573	c.471C>A	c.(469-471)agC>agA	p.S157R	PTGDR_ENST00000553372.1_Missense_Mutation_p.S157R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	157						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.S157S(1)|p.S157R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGTGGTGAGCGCCTTCTCCC	0.637000													3	55					0.00024832	0.000259439	1	1	0
GPX6	257202	broad.mit.edu	37	6	28478665	28478665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:28478665C>G	ENST00000361902.1	-	2	153	c.104G>C	c.(103-105)gGg>gCg	p.G35A	GPX6_ENST00000474923.1_Missense_Mutation_p.G35A|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	35					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GCCTGTTACCCCTTTGTTGCA	0.408000													34	31					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767397	57767397	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:57767397C>T	ENST00000371030.2	+	1	1323	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	441						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGCATCGACCTGCCCACGC	0.677000													5	23					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369743	139369743	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:139369743C>T	ENST00000313050.7	-	1	2398	c.2325G>A	c.(2323-2325)tcG>tcA	p.S775S	SEC16A_ENST00000431893.2_Silent_p.S597S|SEC16A_ENST00000371706.3_Silent_p.S597S|SEC16A_ENST00000290037.6_Silent_p.S597S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	597					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGCCGCCGAGCTTGGGT	0.607000													7	56					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623238	100623238	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:100623238C>T	ENST00000409236.2	-	5	841	c.729G>A	c.(727-729)caG>caA	p.Q243Q	AFF3_ENST00000409579.1_Silent_p.Q268Q|AFF3_ENST00000356421.2_Silent_p.Q268Q|AFF3_ENST00000317233.4_Silent_p.Q243Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CATCAGGGGCCTGATCTTGGC	0.572000													21	8					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705632	101705632	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:101705632C>T	ENST00000305352.6	+	2	1467	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	364					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCCAGAAAGACGAAGGGGACA	0.547000													29	55					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72957746	72957746	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:72957746G>C	ENST00000264839.7	+	12	2157	c.2157G>C	c.(2155-2157)atG>atC	p.M719I	RIMS1_ENST00000401910.3_Missense_Mutation_p.M193I|RIMS1_ENST00000517960.1_Missense_Mutation_p.M719I|RIMS1_ENST00000517827.1_Missense_Mutation_p.M178I|RIMS1_ENST00000521978.1_Missense_Mutation_p.M719I|RIMS1_ENST00000522291.1_Missense_Mutation_p.M719I|RIMS1_ENST00000425662.2_Missense_Mutation_p.M112I|RIMS1_ENST00000523963.1_Missense_Mutation_p.M193I|RIMS1_ENST00000518273.1_Missense_Mutation_p.M719I|RIMS1_ENST00000520567.1_Missense_Mutation_p.M719I|RIMS1_ENST00000348717.5_Missense_Mutation_p.M719I|RIMS1_ENST00000491071.2_Missense_Mutation_p.M719I			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	719					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCAGAAGATGGAAAGGCCTT	0.328000													22	61					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122446797	122446797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:122446797C>T	ENST00000474629.2	+	16	5346	c.5080C>T	c.(5080-5082)Cga>Tga	p.R1694*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1694	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACACGTCAATCGAAATGGCTT	0.507000													28	35					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	103053996	103053996	+	Silent	SNP	A	A	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:103053996A>T	ENST00000376131.4	-	1	128	c.33T>A	c.(31-33)acT>acA	p.T11T	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTGAAATCAGTTCTCCTGA	0.413000													30	3					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114157	147114157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:147114157C>T	ENST00000383075.3	-	3	682	c.170G>A	c.(169-171)cGt>cAt	p.R57H	ZIC4_ENST00000425731.3_Missense_Mutation_p.R95H|ZIC4_ENST00000484399.1_Missense_Mutation_p.R57H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.R107H|ZIC4_ENST00000473123.1_Missense_Mutation_p.R57H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	57						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATTCAAAGGACGGCTGGGGGA	0.726000													12	32					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:78958573G>A	ENST00000370756.3	+	2	382	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_ENST00000370757.3_Missense_Mutation_p.A49T|PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	49					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448000													61	49					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334726	102334726	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:102334726G>A	ENST00000395065.3	-	13	1226	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	NXF3_ENST00000425644.1_Silent_p.S47S	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	375	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAATGCTCAGGGAGAAGCAGG	0.547000													3	70					0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656111	47656111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:47656111G>A	ENST00000328741.5	+	2	570	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	NXPH3_ENST00000513748.1_Missense_Mutation_p.A70T	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	70	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					AGGGCTGCTGGCCCCGCCTGG	0.682000													40	48					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925522	42925522	+	Silent	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:42925522A>G	ENST00000372561.3	+	3	868	c.861A>G	c.(859-861)aaA>aaG	p.K287K	PPCS_ENST00000372562.1_Silent_p.K114K|PPCS_ENST00000455780.1_Silent_p.K114K|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	287					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAATAGAAAAAGGCGTAGAGA	0.388000													3	93					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44129330	44129330	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:44129330G>A	ENST00000222374.2	-	7	876	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	276	Ig-like C2-type 2.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGGCAGCGTGAGCGTCTCTC	0.607000													24	22					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106824210	106824210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:106824210C>A	ENST00000228347.4	+	14	1645	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K	POLR3B_ENST00000539066.1_Missense_Mutation_p.Q417K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	475					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGCCATCTCAGTGGGGAAT	0.493000													4	114					2.7689e-08	3.005e-08	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912689	77912689	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:77912689T>A	ENST00000321110.1	-	2	1524	c.1229A>T	c.(1228-1230)gAt>gTt	p.D410V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	410							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTCGGGTCCATCTCCCTCTGC	0.537000													53	9					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418613	8418613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:8418613C>T	ENST00000337907.3	-	21	4616	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	RERE_ENST00000476556.1_Missense_Mutation_p.E774K|RERE_ENST00000400908.2_Missense_Mutation_p.E1328K|RERE_ENST00000377464.1_Missense_Mutation_p.E1060K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1328					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCTTCACCTCGAAGCCCGGC	0.721000													17	8					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594393	41594393	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:41594393T>G	ENST00000330436.3	+	1	17	c.17T>G	c.(16-18)cTg>cGg	p.L6R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	6					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCCTCAGGGCTGCTTCTGGTG	0.572000													11	32					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740362	2740362	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:2740362C>G	ENST00000312371.4	+	2	645	c.277C>G	c.(277-279)Cgg>Ggg	p.R93G	AMZ1_ENST00000407112.1_Missense_Mutation_p.R93G	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	93							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGCCTGGCTCGGAAGCACAT	0.642000													25	44					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412526	154412526	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:154412526G>A	ENST00000414028.2	+	3	1133	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	OPRM1_ENST00000524163.1_Silent_p.E361E|OPRM1_ENST00000518759.1_Silent_p.E280E|OPRM1_ENST00000419506.2_Silent_p.E361E|OPRM1_ENST00000522236.1_Silent_p.E261E|OPRM1_ENST00000520708.1_Silent_p.E261E|OPRM1_ENST00000435918.2_Silent_p.E361E|OPRM1_ENST00000522555.1_Silent_p.E261E|OPRM1_ENST00000452687.2_Silent_p.E361E|OPRM1_ENST00000229768.5_Silent_p.E361E|OPRM1_ENST00000428397.2_Silent_p.E361E|OPRM1_ENST00000337049.4_Silent_p.E361E|OPRM1_ENST00000434900.2_Silent_p.E454E|OPRM1_ENST00000360422.4_Silent_p.E361E|OPRM1_ENST00000330432.7_Silent_p.E361E	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	361					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CCAACATTGAGCAACAAAACT	0.448000													3	109					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830727	2830727	+	Silent	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:2830727G>T	ENST00000602557.1	-	58	9393	c.8838C>A	c.(8836-8838)tcC>tcA	p.S2946S	CSMD1_ENST00000602723.1_Silent_p.S2888S|CSMD1_ENST00000542608.1_Silent_p.S2887S|CSMD1_ENST00000537824.1_Silent_p.S2945S|CSMD1_ENST00000400186.3_Silent_p.S2888S|CSMD1_ENST00000520002.1_Silent_p.S2946S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2946	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATTTCACAGGAGAAGCGGA	0.552000													5	103					1.23904e-05	1.32416e-05	1	1	0
MROH9	80133	broad.mit.edu	37	1	170961422	170961422	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:170961422G>A	ENST00000367759.4	+	12	1300	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	MROH9_ENST00000367758.3_Silent_p.T382T	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ACACCGTAACGGAAGGGAAAC	0.473000													23	118					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22475219	22475219	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:22475219G>A	ENST00000308511.4	+	16	2250	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	CCAR2_ENST00000520861.1_Silent_p.K342K|CCAR2_ENST00000389279.3_Silent_p.K667K					cell cycle and apoptosis regulator 2	667																	CAGGAGCAAAGCTGGAGGATT	0.532000													6	91					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363883	72363883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:72363883G>A	ENST00000335666.4	+	1	287	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	80						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGCAGTTTCCGCCAGGTGAAT	0.562000													26	28					0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108357060	108357060	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:108357060A>G	ENST00000434945.2	-	2	642	c.340T>C	c.(340-342)Ttt>Ctt	p.F114L	KDELC2_ENST00000323468.5_Missense_Mutation_p.F170L|KDELC2_ENST00000375648.1_Missense_Mutation_p.F114L			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	170						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATGCTGGGAAAGGAAGCAAAA	0.453000													4	63					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24225885	24225885	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:24225885C>A	ENST00000379177.1	+	8	1280	c.853C>A	c.(853-855)Ctt>Att	p.L285I	ZFX_ENST00000540034.1_Missense_Mutation_p.L324I|ZFX_ENST00000338565.3_Missense_Mutation_p.L235I|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Missense_Mutation_p.L285I|ZFX_ENST00000304543.5_Missense_Mutation_p.L285I|ZFX_ENST00000539115.1_Missense_Mutation_p.L56I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGTTGAACTGCTTGATCAGAA	0.403000													11	122					7.03913e-09	7.75967e-09	1	1	0
OCA2	4948	broad.mit.edu	37	15	28231744	28231744	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:28231744A>G	ENST00000354638.3	-	12	1383	c.1228T>C	c.(1228-1230)Tgt>Cgt	p.C410R	OCA2_ENST00000353809.5_Missense_Mutation_p.C386R|OCA2_ENST00000382996.2_Missense_Mutation_p.C410R	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	410					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTACAGCACAATAATCGAAA	0.284000									Oculocutaneous Albinism				63	23					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419212	123419212	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:123419212G>A	ENST00000360772.3	-	19	3481	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	MYLK_ENST00000360304.3_Silent_p.L1035L|MYLK_ENST00000346322.5_Silent_p.L966L|MYLK_ENST00000475616.1_Silent_p.L1035L|MYLK_ENST00000359169.1_Silent_p.L1035L			Q15746	MYLK_HUMAN	myosin light chain kinase	1035	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATTGGCTTCAGGGTCTCAGCA	0.577000													112	124					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224651	55224651	+	RNA	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:55224651G>A	ENST00000413439.1	+	0	1823																											GGCTGTGGCTGGCTTGGTCCT	0.542000													5	38					0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25672949	25672949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:25672949C>T	ENST00000539744.1	-	7	984	c.505G>A	c.(505-507)Gtt>Att	p.V169I	IFLTD1_ENST00000282881.6_Missense_Mutation_p.V266I|IFLTD1_ENST00000413632.2_Missense_Mutation_p.V247I|IFLTD1_ENST00000445693.1_Missense_Mutation_p.V203I|IFLTD1_ENST00000458174.2_Missense_Mutation_p.V287I	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	266						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTAAATTCAACGTCAGCATCT	0.383000													29	34					0	0	1	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959667	61959667	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:61959667C>T	ENST00000306238.3	+	2	264	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	65						extracellular space	binding	p.C65C(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TGAAGAAATGCGTGGATACGA	0.443000													83	65					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59127114	59127114	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:59127114G>T	ENST00000472487.1	-	18	2273	c.2234C>A	c.(2233-2235)aCa>aAa	p.T745K	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	745					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TATCCATCTTGTCTTTTCAAA	0.373000													3	56					0.00909568	0.00929486	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81078139	81078139	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:81078139C>G	ENST00000566488.1	+	3	2531	c.1568C>G	c.(1567-1569)gCa>gGa	p.A523G	ATMIN_ENST00000564241.1_Missense_Mutation_p.A523G|ATMIN_ENST00000299575.4_Missense_Mutation_p.A679G|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	679					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TTCTTACTCGCAGATACCTCT	0.443000													33	141					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			19	3					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:37027200A>C	ENST00000358047.3	+	1	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637000													3	53					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													3	113					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665223	111665223	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:111665223C>A	ENST00000374647.5	-	16	2058		c.e16-1		IKBKAP_ENST00000537196.1_Splice_Site	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein						immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAAGGTGACTCTGCAAGATTC	0.413000													20	48					1.50039e-11	1.69399e-11	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576989	33576989	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:33576989T>A	ENST00000504830.1	-	19	3477	c.3142A>T	c.(3142-3144)Atc>Ttc	p.I1048F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I963F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1048	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGCTGCTGATTGCTGGAGTG	0.557000										HNSCC(64;0.19)			40	52					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277090	152277090	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152277090G>A	ENST00000368799.1	-	3	10307	c.10272C>T	c.(10270-10272)caC>caT	p.H3424H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3424	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACGCTGAGTGCCTGGAGC	0.597000									Ichthyosis				255	351					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99133483	99133483	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:99133483G>A	ENST00000370992.4	-	17	1986	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L	RRP12_ENST00000536831.1_Silent_p.L343L|RRP12_ENST00000414986.1_Silent_p.L564L|RRP12_ENST00000315563.6_Silent_p.L525L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	625						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACCCAGGCAGGAGTGTCCACA	0.622000													34	12					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40660605	40660605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:40660605G>A	ENST00000343619.4	+	19	2251	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V356M|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V667M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	710					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CGAGGACGAAGTGGTAAGATG	0.517000													47	44					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72957747	72957747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:72957747G>T	ENST00000264839.7	+	12	2158	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	RIMS1_ENST00000401910.3_Nonsense_Mutation_p.E194*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E720*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.E179*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.E720*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E720*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.E113*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.E194*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E720*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E720*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E720*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E720*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	720					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCAGAAGATGGAAAGGCCTTC	0.328000													22	61					6.12954e-19	7.09202e-19	1	1	0
DIRAS1	148252	broad.mit.edu	37	19	2717599	2717599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:2717599G>A	ENST00000323469.4	-	2	389	c.206C>T	c.(205-207)cCg>cTg	p.P69L	DIRAS1_ENST00000585334.1_Missense_Mutation_p.P69L	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	69					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCATGGCCGGGAACTGGTG	0.622000													3	38					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151640977	151640977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:151640977C>T	ENST00000368843.3	+	7	1135	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	SNX27_ENST00000458013.2_Missense_Mutation_p.H339Y|SNX27_ENST00000368838.1_Missense_Mutation_p.H246Y|SNX27_ENST00000482791.1_3'UTR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	339	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTTTCCTCACAAACTCTA	0.363000													25	185					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6756060	6756060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:6756060C>A	ENST00000229243.2	-	2	255	c.162G>T	c.(160-162)tgG>tgT	p.W54C	ACRBP_ENST00000414226.2_Missense_Mutation_p.W54C|ACRBP_ENST00000536350.1_Missense_Mutation_p.W54C	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	54						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCTCTGCCTTCCAGGTTGGAG	0.602000													4	78					0.00909568	0.00929486	1	1	0
PTHLH	5744	broad.mit.edu	37	12	28116292	28116292	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:28116292C>T	ENST00000535992.1	-	3	859	c.513G>A	c.(511-513)gaG>gaA	p.E171E	PTHLH_ENST00000539239.1_Silent_p.E171E|PTHLH_ENST00000538310.1_Silent_p.E171E|PTHLH_ENST00000354417.3_Silent_p.E171E|PTHLH_ENST00000545234.1_Silent_p.E171E|PTHLH_ENST00000395868.3_Silent_p.E171E|PTHLH_ENST00000395872.1_Silent_p.E171E|PTHLH_ENST00000201015.4_Silent_p.E171E|RP11-993B23.3_ENST00000538113.1_RNA			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	171					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTGAATCGAGCTCCAGCGACG	0.582000													17	33					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411088	98411088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:98411088G>C	ENST00000339364.5	-	6	1024	c.905C>G	c.(904-906)aCc>aGc	p.T302S	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T124S|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	302	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGGATTCGGTTAGCAGTTT	0.428000													16	36					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416701	105416701	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr14:105416701G>T	ENST00000333244.5	-	7	5206	c.5087C>A	c.(5086-5088)tCc>tAc	p.S1696Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1696						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.612000													7	272					6.72482e-11	7.5318e-11	1	1	0
C17orf74	201243	broad.mit.edu	37	17	7329763	7329763	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7329763C>T	ENST00000333870.3	+	3	527	c.453C>T	c.(451-453)atC>atT	p.I151I	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	151						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACAGACAAATCCCCCATAGCC	0.597000													36	27					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:62148677G>A	ENST00000416284.3	-	3	1819	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.R79*|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502000													25	17					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871044	51871044	+	Missense_Mutation	SNP	C	C	A	rs61758128	byFrequency	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:51871044C>A	ENST00000371497.5	+	2	1934	c.1047C>A	c.(1045-1047)aaC>aaA	p.N349K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.N346K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.N346K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	349					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGAACGCCAACTTGC	0.498000													3	108					1	1	1	1	0
CUX2	23316	broad.mit.edu	37	12	111786052	111786052	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:111786052A>G	ENST00000261726.6	+	22	4538	c.4384A>G	c.(4384-4386)Atg>Gtg	p.M1462V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1462						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCATGAGAAGATGGCCAATCT	0.612000													39	220					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	775562	775562	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:775562G>A	ENST00000293889.6	-	4	391	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	96										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TCCAGTACCCGGCTCTCCAGC	0.662000													30	2					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50691406	50691406	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:50691406G>T	ENST00000355832.5	-	9	2056	c.1978C>A	c.(1978-1980)Ctt>Att	p.L660I	ERCC6_ENST00000542458.1_Missense_Mutation_p.L30I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	660	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGCAAGCAAGGGTGACAGCA	0.383000								Direct reversal of damage;Nucleotide excision repair (NER)					4	131					0.184627	0.187303	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49424741	49424741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:49424741G>A	ENST00000301067.7	-	40	13605	c.13606C>T	c.(13606-13608)Cga>Tga	p.R4536*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R4536*(2)|p.R4266*(2)									AGCTTCTTTCGGGAGCTCACC	0.592000													7	25					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111395670	111395670	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:111395670A>T	ENST00000535254.1	-	24	3136	c.3069T>A	c.(3067-3069)caT>caA	p.H1023Q	BUB1_ENST00000302759.6_Missense_Mutation_p.H1043Q|BUB1_ENST00000409311.1_Missense_Mutation_p.H986Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1043	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGATGGAAGATGATGACAAT	0.333000													4	35					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53254339	53254339	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr18:53254339G>A	ENST00000354452.3	-	2	620	c.9C>T	c.(7-9)caC>caT	p.H3H	TCF4_ENST00000537578.1_Intron|TCF4_ENST00000565018.2_Silent_p.H3H|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000564999.1_Silent_p.H3H|TCF4_ENST00000567880.1_Silent_p.H3H|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000564403.2_Silent_p.H3H|TCF4_ENST00000356073.4_Silent_p.H3H|TCF4_ENST00000566279.1_Silent_p.H3H|TCF4_ENST00000398339.1_Silent_p.H105H	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	3	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTCGCTGTTGGTGATGCATTT	0.423000													37	14					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121551581	121551581	+	Silent	SNP	A	A	C	rs2289306	by1000genomes	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:121551581A>C	ENST00000369081.1	+	3	475	c.357A>C	c.(355-357)gcA>gcC	p.A119A	INPP5F_ENST00000361976.2_Intron|INPP5F_ENST00000369083.3_Intron			Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	0							phosphoric ester hydrolase activity	p.A119A(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGGGTTTGCACTTGGGAAGA	0.502000													4	97					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195282	3195282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:3195282C>T	ENST00000323404.1	-	1	594	c.595G>A	c.(595-597)Gag>Aag	p.E199K	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGCAGCAGCTCATTGAGTTGG	0.522000													5	94					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087417	27087417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:27087417C>G	ENST00000324856.7	+	5	2362	c.1991C>G	c.(1990-1992)tCa>tGa	p.S664*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S664*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S281*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	664					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	p.S664*(1)	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)		GTGAGCACATCAGGGATTTCC	0.517000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								74	86					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434325	49434325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:49434325G>A	ENST00000301067.7	-	31	7227	c.7228C>T	c.(7228-7230)Cga>Tga	p.R2410*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2140*(1)									GCAGGCACTCGGGAGAAAGGG	0.647000													15	13					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657849	143657849	+	Silent	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:143657849C>G	ENST00000392899.1	+	1	823	c.786C>G	c.(784-786)ccC>ccG	p.P262P		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACATCCAGCCCCACTCCAGTC	0.473000													4	63					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655190	159655190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:159655190G>A	ENST00000297267.9	+	11	3846	c.3646G>A	c.(3646-3648)Gat>Aat	p.D1216N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D1153N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1216						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)		CAAAGACGCCGATGGGAGCCT	0.637000													6	7					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061676	9061676	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:9061676C>T	ENST00000397910.4	-	3	25973	c.25770G>A	c.(25768-25770)gtG>gtA	p.V8590V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8592	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTGCAGTCACAGGATGAG	0.507000													26	15					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33359935	33359935	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:33359935G>C	ENST00000404816.2	+	5	1462	c.1109G>C	c.(1108-1110)tGt>tCt	p.C370S	LTBP1_ENST00000418533.2_Missense_Mutation_p.C44S|LTBP1_ENST00000354476.3_Missense_Mutation_p.C370S|LTBP1_ENST00000407925.1_Missense_Mutation_p.C44S|LTBP1_ENST00000390003.4_Missense_Mutation_p.C44S|LTBP1_ENST00000404525.1_Missense_Mutation_p.C44S|LTBP1_ENST00000402934.1_Missense_Mutation_p.C44S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	370					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGCAGCTGTCAGAACAGC	0.547000													16	58					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488285	44488285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:44488285T>G	ENST00000425708.2	-	7	3219	c.2878A>C	c.(2878-2880)Agc>Cgc	p.S960R	ZNF445_ENST00000396077.2_Missense_Mutation_p.S960R			P59923	ZN445_HUMAN	zinc finger protein 445	960					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGCTCTGGCTGCAAGCTTCT	0.478000													20	63					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13522882	13522882	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:13522882A>C	ENST00000295757.3	+	2	322	c.139A>C	c.(139-141)Aat>Cat	p.N47H	HDAC11_ENST00000522202.1_Missense_Mutation_p.N19H|HDAC11_ENST00000402271.1_Missense_Mutation_p.N47H|HDAC11_ENST00000437379.2_Missense_Mutation_p.N19H|HDAC11_ENST00000404548.1_Missense_Mutation_p.N47H|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000404040.1_Missense_Mutation_p.N47H|HDAC11_ENST00000402259.1_Missense_Mutation_p.N47H|HDAC11_ENST00000405025.1_Missense_Mutation_p.N19H|HDAC11_ENST00000433119.1_Missense_Mutation_p.N19H	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	47	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAAAGTGATCAATTTCCTAAA	0.542000													52	149					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2403105	2403105	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:2403105C>T	ENST00000332578.3	+	5	480	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	160	LDL-receptor class A.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCTTTTCCTGCGGGAACA	0.572000													12	8					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860055	96860055	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:96860055C>A	ENST00000375360.3	+	7	1385	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T	PTPDC1_ENST00000288976.3_Missense_Mutation_p.P401T	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	349							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCGCCTAACCCCACTGCAGT	0.468000													4	162					1	1	1	1	0
SLC7A1	6541	broad.mit.edu	37	13	30091860	30091860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:30091860C>T	ENST00000380752.5	-	10	1746	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	454					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCATTTTGGTCTGCTGGATCT	0.493000													24	85					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167835653	167835653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:167835653G>A	ENST00000265293.4	+	7	1364	c.862G>A	c.(862-864)Gga>Aga	p.G288R	WWC1_ENST00000521089.1_Missense_Mutation_p.G288R	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	288					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGACATCTCGGGAAGCGTGAG	0.592000													15	176					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980208	58980208	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:58980208T>C	ENST00000361050.3	-	1	216	c.131A>G	c.(130-132)gAa>gGa	p.E44G		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	44	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGGTAGGACTTCCAGGACAGG	0.522000													5	244					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910615	32910615	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:32910615C>A	ENST00000544455.1	+	11	2350	c.2123C>A	c.(2122-2124)tCt>tAt	p.S708Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.S708Y	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	708	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGCTGATTCTCTGTCATGC	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	32					3.86212e-05	4.09619e-05	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160517637	160517637	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:160517637C>T	ENST00000356956.1	+	45	6970	c.6822C>T	c.(6820-6822)acC>acT	p.T2274T	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2274					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTGGTACACCTCAGCCGTGT	0.522000													12	74					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329786	33329786	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:33329786C>A	ENST00000374796.2	-	12	6844	c.4274G>T	c.(4273-4275)aGt>aTt	p.S1425I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1425I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1425					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGCAATCACTGTCCTGAGG	0.468000													15	96					4.7546e-09	5.28289e-09	1	1	0
NRG3	10718	broad.mit.edu	37	10	84498404	84498404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:84498404C>T	ENST00000372142.2	+	4	636	c.362C>T	c.(361-363)cCa>cTa	p.P121L	NRG3_ENST00000556918.1_Missense_Mutation_p.P172L|NRG3_ENST00000404576.2_Missense_Mutation_p.P146L|NRG3_ENST00000404547.1_Missense_Mutation_p.P342L|NRG3_ENST00000372141.2_Missense_Mutation_p.P342L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	342	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTATCGGATCCAAGTAGGTCA	0.393000													4	44					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283897	152283897	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152283897G>A	ENST00000368799.1	-	3	3500	c.3465C>T	c.(3463-3465)caC>caT	p.H1155H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1155	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACGCTGAGTGCCTGGAGC	0.597000									Ichthyosis				16	664					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													7	214	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													6	1	---	---	---	---					
WRNIP1	56897	broad.mit.edu	37	6	2766344	2766346	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:2766344_2766346delAGG	ENST00000380773.4	+	1	697_699	c.488_490delAGG	c.(487-492)caggag>cag	p.E167del	WRNIP1_ENST00000380771.4_In_Frame_Del_p.E167del|WRNIP1_ENST00000380769.4_5'UTR	NM_020135.2	NP_064520.2	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	167					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				gcggaggcgcaggaggaggagga	0.798													3	4	---	---	---	---					
KRBA1	84626	broad.mit.edu	37	7	149427255	149427255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:149427255delC	ENST00000255992.10	+	15	2225	c.1826delC	c.(1825-1827)tccfs	p.S609fs	KRBA1_ENST00000485033.2_Frame_Shift_Del_p.S549fs|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Del_p.S549fs	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	610	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAAGCCCTCCCCGCTGCAC	0.682													2	4	---	---	---	---					
NUDCD1	84955	broad.mit.edu	37	8	110293311	110293312	+	Frame_Shift_Del	DEL	TG	TG	-	rs143668430		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:110293311_110293312delTG	ENST00000239690.4	-	6	1287_1288	c.913_914delCA	c.(913-915)cagfs	p.Q305fs	NUDCD1_ENST00000427660.2_Frame_Shift_Del_p.Q276fs	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	305	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGGCAAAAACTGTATTTGAATG	0.371													82	10	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													5	2	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													2	4	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	RNA	DEL	TCC	TCC	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:63533335_63533337delTCC	ENST00000433688.1	-	0	597_599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													3	6	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20096042	20096042	+	RNA	DEL	A	A	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:20096042delA	ENST00000535764.1	+	0	212																											ACAAGCTGTTAAAAAAAAAAT	0.303													2	4	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)ctgdel	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783													2	4	---	---	---	---					
RP11-382A20.5	0	broad.mit.edu	37	15	83738041	83738041	+	RNA	DEL	G	G	-	rs67667911		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:83738041delG	ENST00000566841.1	+	0	734				RP11-382A20.6_ENST00000568441.1_RNA																							cggcgggggtggggggggtgg	0.562													2	4	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													9	2	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7788146_7788148delGAG	ENST00000380358.4	+	1	23_25	c.22_24delGAG	c.(22-24)gagdel	p.E14del	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	429					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.700													3	4	---	---	---	---					
CRLF3	51379	broad.mit.edu	37	17	29112973	29112973	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:29112973delG	ENST00000324238.6	-	7	1160	c.1036delC	c.(1036-1038)ctgfs	p.L346fs	CRLF3_ENST00000544695.1_Frame_Shift_Del_p.L230fs|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	346					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCCCGCTGCAGAGAGTCATAT	0.368													31	283	---	---	---	---					
USP25	29761	broad.mit.edu	37	21	17250653	17250653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr21:17250653delG	ENST00000285681.2	+	25	3492	c.3123delG	c.(3121-3123)ttgfs	p.L1041fs	USP25_ENST00000285679.6_Frame_Shift_Del_p.L1009fs|USP25_ENST00000400183.2_Frame_Shift_Del_p.L1079fs|USP25_ENST00000351097.5_Frame_Shift_Del_p.L404fs	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1009					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGATTTTTTGCCAAAACTGC	0.363													57	47	---	---	---	---