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
OR13F1	138805	broad.mit.edu	37	9	107267461	107267461	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:107267461T>G	uc011lvm.2	+	0	918	c.918T>G	c.(916-918)atT>atG	p.I306M		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATTGCTGATTAGAAATCATT	0.353000													14	20					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40330915	40330915	+	Silent	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:40330915G>A	uc002omn.3	-	3	450	c.336C>T	c.(334-336)gtC>gtT	p.V112V	FBL_uc002omm.1_Silent_p.V26V|FBL_uc002omo.2_Silent_p.V111V|FBL_uc010egr.3_Silent_p.V112V	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	112					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ATTCCCCAGGGACCAGGTTCT	0.577000													23	52					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16010773	16010773	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:16010773C>A	uc001mme.3	-	13	1808	c.1775G>T	c.(1774-1776)aGt>aTt	p.S592I	SOX6_uc001mmd.3_Missense_Mutation_p.S555I|SOX6_uc001mmf.3_Missense_Mutation_p.S552I|SOX6_uc001mmg.3_Intron	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	579					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R592C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CATTGCTTTACTTCCTGTAAT	0.507000											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	67					1.38909e-20	1.55178e-20	1	1	0
MYH7	4625	broad.mit.edu	37	14	23886422	23886422	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:23886422C>T	uc001wjx.3	-	31	4565	c.4459G>A	c.(4459-4461)Gcc>Acc	p.A1487T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCATAGGCGTTCTTGAGT	0.597000													27	38					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62859303	62859303	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:62859303A>T	uc002yii.3	+	17	3018	c.2654A>T	c.(2653-2655)aAg>aTg	p.K885M	MYT1_uc002yih.3_Missense_Mutation_p.K564M|MYT1_uc002yij.3_Missense_Mutation_p.K544M	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	885					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGACGACAAGGAGGACCCC	0.483000													55	88					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151775087	151775087	+	Silent	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:151775087G>A	uc003luv.2	-	2	1036	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	290					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAAAGCTGAAGAAGAGTCGGT	0.483000													7	346					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59344604	59344604	+	Missense_Mutation	SNP	G	G	T	rs137923008	byFrequency	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:59344604G>T	uc002afv.3	+	2	1260	c.981G>T	c.(979-981)gaG>gaT	p.E327D	RNF111_uc002afs.3_Missense_Mutation_p.E327D|RNF111_uc002aft.3_Missense_Mutation_p.E327D|RNF111_uc002afu.3_Missense_Mutation_p.E327D|RNF111_uc002afw.3_Missense_Mutation_p.E327D	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	327	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAAGTGGAGATTGTAACAG	0.333000													18	31					1.50039e-11	1.60387e-11	1	1	0
FAM182A	284800	broad.mit.edu	37	20	26061817	26061817	+	RNA	SNP	T	T	C	rs139582789	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:26061817T>C	uc010gdq.3	+	3		c.878T>C								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.									p.C57R(2)		breast(1)|endometrium(2)|kidney(1)	4						TGATTTCTCCTGCTTAGAAAT	0.468000													3	52					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044855	119044855	+	Silent	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr10:119044855G>A	uc001lde.1	-	4	1588	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	463					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCCAACTGGCCAAAGTTAT	0.473000													3	81					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49436945	49436945	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr12:49436945G>A	uc001rta.4	-	24	5558	c.5558C>T	c.(5557-5559)gCa>gTa	p.A1853V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1853					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACTGGGGATGCCTTCACGCC	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			7	81					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81517938	81517938	+	Silent	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:81517938A>G	uc021ssh.1	+	0	299	c.198A>G	c.(196-198)acA>acG	p.T66T	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.T66T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.T108T|IL16_uc021ssg.1_Silent_p.T66T|IL16_uc002bgg.3_Silent_p.T66T	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	66					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCAGACACATCGGAGGCTG	0.552000													25	71					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092950	1092950	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:1092950C>T	uc001lsx.1	+	30	4796	c.4769C>T	c.(4768-4770)aCt>aTt	p.T1590I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1595	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1590I(3)|p.T1590T(2)|p.T1590N(2)|p.T1591I(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccaccactacggtgacc	0.632000													3	99					0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724631	217724631	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:217724631G>A	uc002vgk.3	-	0	152	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W		NM_003284	NP_003275	P09430	STP1_HUMAN	Homo sapiens transition protein 1 (during histone to protamine replacement) (TNP1), mRNA.	43					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGCCCCGTTTCCTACTT	0.552000													58	58					0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370968	101370968	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr10:101370968T>A	uc001kpx.2	-	3	862	c.733A>T	c.(733-735)Acc>Tcc	p.T245S	SLC25A28_uc021pwy.1_Missense_Mutation_p.T57S|SLC25A28_uc021pwz.1_Missense_Mutation_p.T90S|SLC25A28_uc001kpy.2_Missense_Mutation_p.T58S	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	245					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AATTCATAGGTCATGAAGTGA	0.567000													31	81					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90127007	90127007	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:90127007A>T	uc010cje.3	-	8	995	c.975T>A	c.(973-975)gaT>gaA	p.D325E	PRDM7_uc002fqo.3_Intron|PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.D119E	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	325	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTGCTCTTCATCATCCCGGG	0.547000													91	59					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140710514	140710514	+	Splice_Site	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:140710514G>A	uc011mfc.2	+	23	3411	c.3374_splice	c.e23+1	p.R1125_splice	EHMT1_uc004coe.3_Splice_Site_p.R30_splice	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1125	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AATGGTCTCAGGTGAGAGGCA	0.552000													24	25					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151775088	151775088	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:151775088A>T	uc003luv.2	-	2	1035	c.869T>A	c.(868-870)tTc>tAc	p.F290Y		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	290					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AAAGCTGAAGAAGAGTCGGTC	0.483000													7	346					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869192	22869192	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr22:22869192T>C	uc002zwe.3	-	1	1016	c.763A>G	c.(763-765)Att>Gtt	p.I255V	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.I255V	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGACTTGAAATGTCTGTCATT	0.413000													78	16					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24836059	24836059	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr6:24836059C>T	uc003neo.1	-	15	2319	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	FAM65B_uc011djs.1_Missense_Mutation_p.E694K	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	715					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTGAGCGCTTCACTGAGATGC	0.527000													54	139					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976896	16976896	+	RNA	SNP	A	A	G	rs149376405	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:16976896A>G	uc010och.2	+	13		c.2617A>G			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		aaacagtaataaagaagagaa	0.328000													3	14					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407702	1407702	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:1407702G>T	uc010nct.2	+	6	716	c.394G>T	c.(394-396)Gat>Tat	p.D132Y	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.D132Y|CSF2RA_uc004cpq.2_Missense_Mutation_p.D132Y|CSF2RA_uc004cpn.2_Missense_Mutation_p.D132Y|CSF2RA_uc004cpo.2_Missense_Mutation_p.D132Y|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.D132Y|CSF2RA_uc010ncv.2_Missense_Mutation_p.D132Y|CSF2RA_uc004cpr.2_Missense_Mutation_p.D132Y	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	132						extracellular region|integral to plasma membrane	cytokine receptor activity	p.A131A(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTACAATGCGGATTTAATGAA	0.468000													98	189					2.91849e-64	3.35086e-64	1	1	0
GPR87	53836	broad.mit.edu	37	3	151012432	151012432	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:151012432A>T	uc003eyt.2	-	2	963	c.602T>A	c.(601-603)gTc>gAc	p.V201D	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	201						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCCATTTGACCCCCAAAGG	0.453000													32	107					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4873373	4873373	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:4873373G>A	uc010cku.2	-	17	3494	c.3082C>T	c.(3082-3084)Ccc>Tcc	p.P1028S	SPAG7_uc002gae.3_5'Flank|SPAG7_uc002gaf.3_5'Flank|CAMTA2_uc002gag.2_Missense_Mutation_p.P1004S|CAMTA2_uc002gah.2_Missense_Mutation_p.P1005S|CAMTA2_uc002gai.2_Missense_Mutation_p.P1007S	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	1005					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CGCTCAAAGGGCAGTTCGCTG	0.557000													24	67					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153198018	153198018	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:153198018C>T	uc004fjm.1	-	3	310	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	NAA10_uc004fjn.1_Missense_Mutation_p.V67M|NAA10_uc011mzg.1_Missense_Mutation_p.V67M	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	67	N-acetyltransferase.				DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCATGGGGCACATCATCTGGG	0.587000													26	43					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													5	60					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531290	140531290	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:140531290C>T	uc003lir.3	+	0	1452	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCCCAGGTCACCTACTCGC	0.647000													5	178					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260393	123260393	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:123260393T>A	uc003ieh.3	+	69	12227	c.12182T>A	c.(12181-12183)gTa>gAa	p.V4061E	KIAA1109_uc003iem.3_Missense_Mutation_p.V417E|KIAA1109_uc003ien.3_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4061					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTTTACCAGTATCAAGAGTA	0.368000													43	39					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541888	15541888	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:15541888A>C	uc001avw.4	+	2	824	c.305A>C	c.(304-306)cAc>cCc	p.H102P	TMEM51_uc010obk.2_Missense_Mutation_p.H102P|TMEM51_uc001avz.3_Missense_Mutation_p.H102P|TMEM51_uc001avy.3_Missense_Mutation_p.H102P|TMEM51_uc001avx.3_Missense_Mutation_p.H102P	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	102						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTCCAGCACCCGACAGGC	0.657000													4	22					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182898789	182898789	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:182898789G>T	uc001gpu.3	-	5	1460	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	SHCBP1L_uc001gpv.3_Missense_Mutation_p.T273N|SHCBP1L_uc010pnz.2_Missense_Mutation_p.T250N|SHCBP1L_uc001gpw.3_Missense_Mutation_p.T112N	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	464										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TACCATTTCAGTAGTCATCAT	0.343000													11	16					6.72482e-11	7.06676e-11	1	1	0
PKD1	5310	broad.mit.edu	37	16	2153522	2153522	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:2153522T>C	uc002cos.1	-	22	8745	c.8536A>G	c.(8536-8538)Acc>Gcc	p.T2846A	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.T2846A|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2846					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCACCTTGGTGGAGACGGTG	0.612000													60	18					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17417493	17417493	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:17417493C>T	uc002wpm.3	+	7	1204	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	PCSK2_uc002wpl.3_Missense_Mutation_p.L265F|PCSK2_uc010zrm.2_Missense_Mutation_p.L249F	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	284	Catalytic.			EL -> DV (in Ref. 1; AAA60032).	enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCCCGGGAGCTCACGCTGCA	0.642000													49	92					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77521385	77521385	+	Missense_Mutation	SNP	A	A	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:77521385A>C	uc003kfj.3	-	5	709	c.584T>G	c.(583-585)cTt>cGt	p.L195R		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	195					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATCTTTCAGAAGTTTTTCAAT	0.239000									Hermansky-Pudlak syndrome				31	19					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691260	10691260	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr18:10691260T>A	uc002kos.2	-	43	7147	c.6973A>T	c.(6973-6975)Aag>Tag	p.K2325*	PIEZO2_uc002koq.3_Nonsense_Mutation_p.K180*	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2325						integral to membrane	ion channel activity										TTGTAGCTCTTGGTGAGGAAG	0.493000													51	145					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68434644	68434644	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:68434644A>G	uc002aqz.3	+	3	664	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	PIAS1_uc010ujx.2_Missense_Mutation_p.K191E	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	191	PINIT.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TTCTGGGACCAAATGTGACTT	0.353000													40	69					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16344625	16344625	+	Missense_Mutation	SNP	C	C	G	rs945417	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:16344625C>G	uc001axr.2	-	0	661	c.98G>C	c.(97-99)aGa>aCa	p.R33T	HSPB7_uc001axo.2_5'UTR|HSPB7_uc001axp.2_Missense_Mutation_p.R33T|HSPB7_uc001axq.2_Missense_Mutation_p.R33T|HSPB7_uc001axs.2_Intron|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	0	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAGGCCTCTCCATGGCCC	0.647000													4	115					0	0	1	0	0
BC028204	0	broad.mit.edu	37	5	17926935	17926935	+	RNA	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:17926935G>T	uc003jgb.3	+	5		c.543G>T								Homo sapiens cDNA clone IMAGE:5201079.																		TTTTCCAGAAGTCTTGAGAGG	0.433000													15	33					3.5997e-14	3.91546e-14	1	1	0
SMC6	79677	broad.mit.edu	37	2	17847696	17847696	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:17847696T>G	uc002rco.3	-	26	3448	c.3152A>C	c.(3151-3153)cAa>cCa	p.Q1051P	SMC6_uc010exo.3_Missense_Mutation_p.Q1051P|SMC6_uc002rcn.3_Missense_Mutation_p.Q1051P	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	1051					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCATGCTTTGAGGTGTGAG	0.308000													19	20					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12949941	12949941	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:12949941A>T	uc003bxt.2	-	11	2714	c.2705T>A	c.(2704-2706)cTg>cAg	p.L902Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.L780Q|IQSEC1_uc011auw.1_Missense_Mutation_p.L888Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	902					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCCGGCTCAGTGTTCCGTT	0.647000													3	82					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506352	11506352	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr12:11506352G>T	uc001qzw.1	-	3	719	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	290	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGGGGCTGGTTGCCTCCT	0.602000													5	89					0.0293803	0.0293803	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12708337	12708337	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:12708337G>T	uc004cuz.2	+	7	1211	c.705G>T	c.(703-705)gaG>gaT	p.E235D	FRMPD4_uc011mij.2_Missense_Mutation_p.E227D	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	235	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCTTCAAGAGAAGCTCTCCA	0.468000													78	12					1.11079e-38	1.25217e-38	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29220519	29220519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:29220519A>T	uc002hfs.1	+	20	4991	c.4648A>T	c.(4648-4650)Aaa>Taa	p.K1550*		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1550					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTTGCTAGGAAACACTCTGA	0.358000													43	27					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691828	31691828	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr21:31691828G>C	uc002ynw.3	-	0	780	c.526C>G	c.(526-528)Ctt>Gtt	p.L176V		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	176						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						ACAACGTGAAGACTTTGAGGA	0.557000													58	169					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153700940	153700940	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrX:153700940C>T	uc004flm.3	+	32	5701	c.5528C>T	c.(5527-5529)aCg>aTg	p.T1843M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1843					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGATTCTCACGGCTCTGGAC	0.607000													146	25					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140037217	140037217	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:140037217C>T	uc003lgq.3	+	9	990	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	IK_uc011czk.1_Missense_Mutation_p.R294C|IK_uc021yen.1_Missense_Mutation_p.R235C	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	294					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGGAACCCGTAACAAGAA	0.473000													43	155					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887415	131887415	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr7:131887415C>T	uc003vra.4	-	11	2805	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	859	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCTGTGATGCGGGGGTTTGT	0.662000													8	29					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000													7	46					0	0	1	0	0
CD24	100133941	broad.mit.edu	37	Y	21154569	21154569	+	Silent	SNP	A	A	G	rs17855271		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrY:21154569A>G	uc004ftz.1	-	0	137	c.27T>C	c.(25-27)ctT>ctC	p.L9L	TTTY14_uc004fty.3_Intron	NM_013230	NP_037362	P25063	CD24_HUMAN	Homo sapiens CD24 molecule (CD24), mRNA.	9					B cell receptor transport into membrane raft|T cell costimulation|Wnt receptor signaling pathway|axon guidance|cell activation|cell migration|cell-cell adhesion|chemokine receptor transport out of membrane raft|cholesterol homeostasis|elevation of cytosolic calcium ion concentration|induction of apoptosis by intracellular signals|negative regulation of transforming growth factor-beta3 production|positive regulation of MAP kinase activity|positive regulation of activated T cell proliferation|regulation of MAPKKK cascade|regulation of cytokine-mediated signaling pathway|regulation of epithelial cell differentiation|respiratory burst|response to estrogen stimulus|response to hypoxia|response to molecule of bacterial origin	anchored to membrane|cell surface|membrane raft|plasma membrane	protein kinase binding|protein tyrosine kinase activator activity|signal transducer activity										GCCCCAGCCCAAGCCTGGCCA	0.612000													23	98					0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50649114	50649114	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr22:50649114C>T	uc021wry.1	+	4	1183	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	SELO_uc010hap.3_Silent_p.Y186Y|SELO_uc003bjy.3_Silent_p.Y55Y	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	375													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCTACGCGTACAGCAAGCAGC	0.682000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	87	38					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913801	40913801	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:40913801A>T	uc010bbs.1	+	10	1578	c.1417A>T	c.(1417-1419)Aga>Tga	p.R473*	CASC5_uc010ucq.1_Nonsense_Mutation_p.R297*|CASC5_uc001zme.3_Nonsense_Mutation_p.R447*|CASC5_uc010bbt.1_Nonsense_Mutation_p.R447*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	473	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCAAATATGAGAGAGGAGAA	0.328000													41	67					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2798240	2798240	+	Silent	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:2798240C>G	uc001lwn.3	+	13	1818	c.1710C>G	c.(1708-1710)ccC>ccG	p.P570P	KCNQ1_uc009ydp.1_Silent_p.P354P|KCNQ1_uc001lwo.3_Silent_p.P443P	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	570					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTGGGAAGCCCTCACTGTTCA	0.602000													38	106					0	0	1	0	0
RASSF10	644943	broad.mit.edu	37	11	13031528	13031528	+	Silent	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:13031528G>T	uc021qdz.1	+	0	559	c.405G>T	c.(403-405)ctG>ctT	p.L135L		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	135					signal transduction										Epithelial(150;0.00399)		AGGCATCGCTGCCTAACGCCG	0.721000													7	59					5.68852e-11	6.02886e-11	1	1	0
AGFG1	3267	broad.mit.edu	37	2	228399580	228399580	+	Silent	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:228399580C>G	uc002vpc.2	+	7	1294	c.1044C>G	c.(1042-1044)ggC>ggG	p.G348G	AGFG1_uc002vpd.2_Silent_p.G372G|AGFG1_uc002vpe.2_Silent_p.G348G|AGFG1_uc002vpf.2_Silent_p.G308G	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	348					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGGGAAGTGGCTTTGGGACCA	0.433000													100	65					0	0	1	0	0
HHLA1	10086	broad.mit.edu	37	8	133092138	133092138	+	Missense_Mutation	SNP	G	G	A	rs2403730	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr8:133092138G>A	uc011liy.1	-	9	752	c.752C>T	c.(751-753)cCc>cTc	p.P251L	HHLA1_uc003yth.2_Missense_Mutation_p.P108L	NM_001145095	NP_001138567	C9JL84	HHLA1_HUMAN	Homo sapiens HERV-H LTR-associating 1 (HHLA1), mRNA.	251						extracellular region		p.P251L(2)		endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						CCAGTGTCCGGGGCTTGTACT	0.552000													4	113					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31892698	31892698	+	Splice_Site	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr20:31892698G>A	uc002wyw.1	+	13	1415	c.1254_splice	c.e13+1	p.Q418_splice	BPIFB1_uc002wyx.1_Splice_Site	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	418						extracellular space	lipid binding										CTGGTTCCAAGTAAGTGTTAA	0.532000													52	92					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248111	75248111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:75248111G>A	uc001xqj.4	+	3	1489	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCAAGAATGGGAGCGAGAGT	0.423000													84	28					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92195753	92195753	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:92195753T>C	uc001xzs.1	-	1	211	c.71A>G	c.(70-72)tAt>tGt	p.Y24C		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	24					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACCTTTATTATATACTATTCC	0.279000													42	55					0	0	1	0	0
FAHD1	81889	broad.mit.edu	37	16	1877593	1877593	+	Silent	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:1877593G>T	uc002cnc.1	+	0	369	c.363G>T	c.(361-363)ctG>ctT	p.L121L	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Silent_p.L121L|FAHD1_uc010brz.3_Silent_p.L121L	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	121						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						CCTGGACTCTGGCGAAGAGCT	0.642000													37	197					3.62531e-18	3.97821e-18	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112357074	112357074	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:112357074T>C	uc003dzf.3	-	1	1897	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	CCDC80_uc011bhv.2_Missense_Mutation_p.D560G|CCDC80_uc003dzg.3_Missense_Mutation_p.D560G|CCDC80_uc003dzh.1_Missense_Mutation_p.D560G	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	560	Lys-rich.							p.A559S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						aagtaacttgtctgcgttctc	0.368000													3	56					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44104780	44104780	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:44104780T>C	uc002rtq.3	+	11	1927	c.1837T>C	c.(1837-1839)Tat>Cat	p.Y613H	ABCG8_uc010yoa.2_Missense_Mutation_p.Y612H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	613	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGAAGAACTTATAAAATGCC	0.522000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15127164	15127164	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:15127164C>T	uc002dda.4	+	18	1944	c.1720C>T	c.(1720-1722)Ctt>Ttt	p.L574F	PDXDC1_uc010uzl.2_Missense_Mutation_p.L559F|PDXDC1_uc010uzm.2_Missense_Mutation_p.L483F|PDXDC1_uc002ddb.4_Missense_Mutation_p.L547F|PDXDC1_uc010uzn.2_Missense_Mutation_p.L546F|PDXDC1_uc002ddc.3_Intron	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	574					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAAGAGCTGCCTTTATGTCGG	0.552000													113	52					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059858	34059858	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr6:34059858C>T	uc003oir.4	-	1	901	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	GRM4_uc011dsn.2_Missense_Mutation_p.A180T|GRM4_uc010jvh.3_Missense_Mutation_p.A180T|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.A99T|GRM4_uc011dsl.2_Missense_Mutation_p.A40T|GRM4_uc003oiq.3_Missense_Mutation_p.A47T|GRM4_uc011dsm.2_Missense_Mutation_p.A11T	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	180					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGTGGAGGCGTAGCTGATC	0.647000													69	68					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032894	30032894	+	Silent	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:30032894T>C	uc021qfi.1	-	0	1332	c.1332A>G	c.(1330-1332)agA>agG	p.R444R	KCNA4_uc001msk.3_Silent_p.R444R	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	444						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACGAATGATTCTGAGGATGG	0.572000													24	59					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													4	74					0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	C	T	rs150449871	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000													5	217					0	0	1	0	0
ABHD12B	145447	broad.mit.edu	37	14	51368558	51368558	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:51368558C>T	uc001wys.3	+	9	807	c.792C>T	c.(790-792)aaC>aaT	p.N264N	ABHD12B_uc001wyr.3_Silent_p.N187N|ABHD12B_uc001wyq.3_Silent_p.N157N|ABHD12B_uc010any.3_Non-coding_Transcript	NM_001206673	NP_001193602	Q7Z5M8	AB12B_HUMAN	Homo sapiens abhydrolase domain containing 12B (ABHD12B), transcript variant 1, mRNA.	264							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTTACCGGAACATTCCAGGAT	0.308000													40	19					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74464271	74464271	+	Silent	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr8:74464271A>G	uc003xzm.3	-	12	1847	c.1506T>C	c.(1504-1506)taT>taC	p.Y502Y	STAU2_uc011lfh.2_Silent_p.Y398Y|STAU2_uc003xzn.3_Silent_p.Y470Y|STAU2_uc011lfg.2_Silent_p.Y330Y|STAU2_uc003xzo.3_Silent_p.Y502Y|STAU2_uc003xzq.3_Silent_p.Y282Y|STAU2_uc003xzp.3_Silent_p.Y470Y|STAU2_uc011lfi.2_Silent_p.Y464Y|STAU2_uc010lzk.3_Silent_p.Y470Y|STAU2_uc010lzl.1_Silent_p.Y330Y	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	502	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCCTTGCTAAATATTCCAGTT	0.363000													49	62					0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713663	183713663	+	Silent	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:183713663C>T	uc003ivd.1	+	24	5913	c.5838C>T	c.(5836-5838)gtC>gtT	p.V1946V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1946					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTCGGAGGGTCTTATTCAAAT	0.448000													56	109					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145939879	145939879	+	Splice_Site	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:145939879C>A	uc010huy.3	-	2	309	c.-20_splice	c.e2-1		PLSCR4_uc010huz.3_Splice_Site|PLSCR4_uc003evt.4_Splice_Site|PLSCR4_uc010hva.3_Splice_Site|PLSCR4_uc003evu.4_Intron	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.						blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCCAATTAATCCTGAAAAATA	0.254000													15	45					1.64113e-05	1.71009e-05	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13602646	13602646	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:13602646T>G	uc003gmz.1	-	9	5995	c.5878A>C	c.(5878-5880)Agt>Cgt	p.S1960R	BOD1L1_uc010idr.1_Missense_Mutation_p.S1297R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1960							DNA binding										GAGACTGCACTGGTCACACTG	0.448000													12	116					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419222	46419222	+	Silent	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:46419222G>A	uc001ncv.2	-	19	3998	c.3684C>T	c.(3682-3684)ggC>ggT	p.G1228G	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Silent_p.G1196G|AMBRA1_uc001ncu.1_Silent_p.G1135G|AMBRA1_uc010rgu.1_Silent_p.G1225G|AMBRA1_uc001ncw.2_Silent_p.G1106G|AMBRA1_uc001ncx.2_Silent_p.G1165G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1225					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGGGCTTAGGCCTCGCTCTG	0.682000													44	44					0	0	1	0	0
TP53I13	90313	broad.mit.edu	37	17	27899239	27899239	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:27899239C>G	uc002hee.3	+	5	631	c.593C>G	c.(592-594)tCt>tGt	p.S198C		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	198						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AGGCAGCCCTCTTCTAGTGGT	0.657000													14	21					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379924	131379924	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:131379924A>G	uc004bvl.4	+	40	5490	c.5348A>G	c.(5347-5349)aAg>aGg	p.K1783R	SPTAN1_uc004bvm.4_Missense_Mutation_p.K1788R|SPTAN1_uc004bvn.4_Missense_Mutation_p.K1763R	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1783					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTCAGGGAGAAGAAGCTGCTG	0.567000													36	65					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235943690	235943690	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:235943690C>T	uc002vvp.3	+	2	437	c.44C>T	c.(43-45)cCt>cTt	p.P15L	SH3BP4_uc010fym.3_Missense_Mutation_p.P15L|SH3BP4_uc002vvq.3_Missense_Mutation_p.P15L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	15					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AATGGCCTCCCTCGCTGCAAG	0.547000													25	35					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89856164	89856164	+	Silent	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:89856164A>T	uc010bnp.1	+	34	3771	c.3681A>T	c.(3679-3681)ggA>ggT	p.G1227G	FANCI_uc002bnm.1_Silent_p.G1167G|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Silent_p.G987G|FANCI_uc002bnq.1_Silent_p.G640G	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1227					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACTATACGGGAGAGAAAAAGG	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547441	179547441	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:179547441T>G	uc021vsy.1	-	131	29570	c.29345A>C	c.(29344-29346)cAt>cCt	p.H9782P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H6443P|TTN_uc010fre.1_Missense_Mutation_p.H629P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10709	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTCTTCATGCTCTTCATA	0.338000													43	37					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20606136	20606136	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr18:20606136C>G	uc002kua.3	+	18	2765	c.2642C>G	c.(2641-2643)cCt>cGt	p.P881R	RBBP8_uc002ktw.3_Missense_Mutation_p.P876R|RBBP8_uc002kty.3_Missense_Mutation_p.P876R|RBBP8_uc002ktz.3_Missense_Mutation_p.L844V|RBBP8_uc010xap.2_Missense_Mutation_p.P214R	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	876					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.P876L(1)|p.R881C(1)|p.L844F(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GATCCTTGTCCTCGTCCAAAA	0.368000								Homologous recombination					58	163					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050896	103050896	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr7:103050896G>C	uc003vbz.3	-	6	933	c.671C>G	c.(670-672)tCc>tGc	p.S224C	SLC26A5_uc003vbt.2_Missense_Mutation_p.S224C|SLC26A5_uc003vbu.2_Missense_Mutation_p.S224C|SLC26A5_uc003vbv.2_Missense_Mutation_p.S224C|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.S224C	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	224					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTTTAACATGGAGGTGAAGAC	0.443000													18	38					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118358	118358	+	RNA	SNP	A	A	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chrGL000205.1:118358A>G	uc002kgk.4	+	0		c.1736A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCCAGGGAAGACATCATCCCT	0.557000													5	39					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1481811	1481811	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:1481811G>A	uc002ltb.1	-	14	2277	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.3_5'Flank|C19orf25_uc010xgo.2_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.R226C|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	739					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GCCCTGGCACGGGAGAGCCAG	0.672000													9	67					0	0	1	0	0
CMTM4	146223	broad.mit.edu	37	16	66670440	66670440	+	Silent	SNP	T	T	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr16:66670440T>A	uc002epz.3	-	1	413	c.231A>T	c.(229-231)gcA>gcT	p.A77A	CMTM4_uc002eqa.3_Silent_p.A77A	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 4 (CMTM4), transcript variant 1, mRNA.	77	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGGGAGCATGCCATGATGG	0.443000													3	72					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056096	26056096	+	Silent	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr6:26056096T>C	uc003nfw.3	-	0	604	c.561A>G	c.(559-561)aaA>aaG	p.K187K		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	187					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TAGCAGCACTTTTGGCAGCTT	0.547000													9	91					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:39274415C>T	uc002hvz.3	-	0	192	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(12)|p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													4	77					0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67787027	67787027	+	Silent	SNP	T	T	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:67787027T>C	uc001xjc.3	+	11	1916	c.1450T>C	c.(1450-1452)Ttg>Ctg	p.L484L	MPP5_uc001xjd.3_Silent_p.L450L	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	Homo sapiens membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) (MPP5), mRNA.	484	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACCTATCATCTTGATTGGTCC	0.408000													21	8					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62155703	62155703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr15:62155703C>A	uc002agz.3	-	81	10979	c.10888G>T	c.(10888-10890)Gag>Tag	p.E3630*	VPS13C_uc002aha.3_Nonsense_Mutation_p.E3587*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3630					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CGGTAAGTCTCTCCTTCCAAC	0.353000													28	54					5.43694e-19	6.01947e-19	1	1	0
CD1C	911	broad.mit.edu	37	1	158261919	158261919	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:158261919G>A	uc001fru.3	+	2	666	c.374G>A	c.(373-375)gGa>gAa	p.G125E	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	125					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTGCATTCTGGAAAGAGCCCA	0.448000													70	79					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671593	186671593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:186671593C>T	uc002upl.3	+	16	17827	c.17827C>T	c.(17827-17829)Cag>Tag	p.Q5943*	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAGGGAAATCAGTTCCCTGG	0.408000													18	56					0	0	1	0	0
C12orf39	80763	broad.mit.edu	37	12	21680692	21680692	+	Silent	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr12:21680692G>C	uc001rfa.1	+	3	328	c.177G>C	c.(175-177)cgG>cgC	p.R59R	C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_5'Flank	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	59						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACCAGAGCCGGAGAAAGGACC	0.647000													116	38					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362441	228362441	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:228362441C>A	uc001hsl.4	+	1	479	c.390C>A	c.(388-390)agC>agA	p.S130R	IBA57_uc010pvw.2_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	130					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.S130R(4)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGTGTGACAGCTCGGTGCAGG	0.662000													11	91					0.000978159	0.00100241	1	1	0
SHPK	23729	broad.mit.edu	37	17	3514081	3514081	+	Silent	SNP	G	G	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:3514081G>T	uc002fvz.1	-	6	1313	c.1210C>A	c.(1210-1212)Cga>Aga	p.R404R	TRPV1_uc010vru.2_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	404					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	p.C403*(1)|p.R404Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		ACAATGCCTCGGCACAGAGCC	0.642000													80	62					1.80868e-48	2.05758e-48	1	1	0
DEPDC1B	55789	broad.mit.edu	37	5	59893587	59893587	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:59893587C>T	uc003jsh.3	-	10	1656	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	DEPDC1B_uc011cqm.2_Missense_Mutation_p.R466Q|DEPDC1B_uc011cqn.2_Missense_Mutation_p.R439Q	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	528					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTATTACATTCGAAAACTTCT	0.418000													12	42					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643036	1643036	+	Silent	SNP	A	A	C	rs58877168		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:1643036A>C	uc009ycy.1	-	1	270	c.183T>G	c.(181-183)ggT>ggG	p.G61G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	156	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.682000													4	33					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871853	35871853	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr14:35871853C>T	uc001wtf.4	-	4	763	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	218					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AAGGGCAGTCCGGCCATTACA	0.507000													3	80					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751665	140751665	+	Silent	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:140751665G>A	uc003ljw.2	+	0	1704	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.G568G|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	570					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCTGGGGCCCGAAGGCT	0.657000													52	168					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51451945	51451945	+	Missense_Mutation	SNP	T	T	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:51451945T>G	uc002pue.3	-	5	895	c.677A>C	c.(676-678)gAt>gCt	p.D226A	KLK5_uc002puf.3_Missense_Mutation_p.D226A|KLK5_uc002pug.3_Missense_Mutation_p.D226A	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	226	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CATGGTGTCATCTATCTGTCT	0.507000													41	51					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17169853	17169853	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr10:17169853C>A	uc001ioo.3	-	2	375	c.323G>T	c.(322-324)aGt>aTt	p.S108I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	108					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAGATTTGACTAGATATATT	0.338000													13	15					0.00074312	0.000767891	1	1	0
KLHL17	339451	broad.mit.edu	37	1	898748	898748	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:898748G>A	uc001aca.2	+	7	1326	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_3'UTR	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	407	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCTACCGTGGAGTCCTACGA	0.622000													90	40					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1033498	1033498	+	Missense_Mutation	SNP	G	G	A	rs144426465		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr5:1033498G>A	uc003jbt.1	+	4	219	c.214G>A	c.(214-216)Gct>Act	p.A72T	NKD2_uc010itf.1_Missense_Mutation_p.A72T	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	72	Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGCACTCCCCGCTGAGAAAGC	0.692000													39	127					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3808622	3808622	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:3808622G>C	uc002fww.3	-	1	618	c.177C>G	c.(175-177)agC>agG	p.S59R	P2RX1_uc010ckm.1_Missense_Mutation_p.A204G	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	59					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TGATGAGGCCGCTCGAGGTCT	0.627000													24	71					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53926630	53926630	+	RNA	SNP	C	C	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:53926630C>T	uc002qbn.3	+	3		c.581C>T						Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGGGCTCATGCTCTGGGGCAG	0.602000													4	5					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111440473	111440473	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr1:111440473C>A	uc001dzw.3	+	7	718	c.547C>A	c.(547-549)Ctg>Atg	p.L183M	CD53_uc001dzx.3_Missense_Mutation_p.L183M|CD53_uc010owa.2_Missense_Mutation_p.L124M	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	183					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TTCCAATTTCCTGTATATCGG	0.378000													3	58					0.00909568	0.00916963	1	1	0
TBCB	1155	broad.mit.edu	37	19	36606539	36606539	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr19:36606539A>T	uc002odg.1	+	0	652	c.77A>T	c.(76-78)aAg>aTg	p.K26M	POLR2I_uc002ode.3_5'Flank|POLR2I_uc002odf.3_5'Flank	NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	26					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCTCCGAGAAGCGATACAGC	0.662000													49	60					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182765617	182765618	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr2:182765617_182765618insT	uc002uoi.3	+	6	1020_1021	c.698_699insT	c.(697-699)aatfs	p.N233fs	SSFA2_uc002uoh.3_Frame_Shift_Ins_p.N233fs|SSFA2_uc002uoj.3_Frame_Shift_Ins_p.N233fs|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Frame_Shift_Ins_p.N80fs|SSFA2_uc002uol.3_Frame_Shift_Ins_p.N80fs	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	233						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GAAAACCCAAATTATGCTTTAA	0.302													19	66	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47098859	47098859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:47098859delG	uc003cqv.3	-	15	6702	c.6616delC	c.(6616-6618)caafs	p.Q2206fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.Q2139fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2139	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCATCTGTTGCTGTTGTTTC	0.478			"""N, F, S, Mis"""		clear cell renal carcinoma								83	29	---	---	---	---					
ARMC8	25852	broad.mit.edu	37	3	137964017	137964040	+	Splice_Site	DEL	CGGAAGAAGGTGAGTCTGGGAGAG	CGGAAGAAGGTGAGTCTGGGAGAG	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:137964017_137964040delCGGAAGAAGGTGAGTCTGGGAGAG	uc003esa.1	+	13	1459	c.1092_splice	c.e13+1	p.K364_splice	ARMC8_uc003erw.3_In_Frame_Del_p.RKKVSLGE362del|ARMC8_uc003erx.3_In_Frame_Del_p.RKKVSLGE362del|ARMC8_uc003ery.3_In_Frame_Del_p.RKKVSLGE334del|ARMC8_uc011bmf.1_Splice_Site_p.K347_splice|ARMC8_uc011bmg.1_Splice_Site_p.K311_splice|ARMC8_uc011bmh.1_Splice_Site_p.K305_splice|ARMC8_uc003esb.1_Splice_Site_p.K336_splice|ARMC8_uc003esc.1_Splice_Site_p.K136_splice	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	378							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGAAGACATCCGGAAGAAGGTGAGTCTGGGAGAGGGGCGTCCCC	0.491													22	117	---	---	---	---					
SENP5	205564	broad.mit.edu	37	3	196612951	196612952	+	Frame_Shift_Ins	INS	-	-	T	rs148425489		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr3:196612951_196612952insT	uc003fwz.4	+	1	1148_1149	c.899_900insT	c.(898-900)tctfs	p.S300fs	SENP5_uc011bty.2_Frame_Shift_Ins_p.S300fs	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	300					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAAGACCCTTCTTGTCGGCATC	0.530													46	49	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389117	1389118	+	Frame_Shift_Ins	INS	-	-	AT	rs71299249	byFrequency	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:1389117_1389118insAT	uc003gdf.2	+	0	3778_3779	c.818_819insAT	c.(817-819)acgfs	p.T273fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	273					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.T273T(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGCCTGCTCACGTGCCGATGTG	0.683													10	96	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:4228274_4228282delCCACAGCAG	uc003ghp.1	-	0	340_348	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													12	39	---	---	---	---					
PDS5A	23244	broad.mit.edu	37	4	39851206	39851213	+	Frame_Shift_Del	DEL	CTTCATAA	CTTCATAA	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr4:39851206_39851213delCTTCATAA	uc003guv.4	-	26	3686_3693	c.3146_3153delTTATGAAG	c.(3145-3153)tttatgaagfs	p.F1049fs		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1049					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGCCATCTTCTTCATAAAGGCATGGCT	0.380													23	59	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr6:42897358_42897360delTGC	uc003ota.4	+	0	499_501	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_uc003osy.2_Non-coding_Transcript|CNPY3_uc003otb.4_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	17					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													7	103	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15468982	15468982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr9:15468982delG	uc003zlv.4	-	12	1509	c.1179delC	c.(1177-1179)cacfs	p.H393fs	PSIP1_uc003zlw.4_Frame_Shift_Del_p.H393fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	393					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCATCTCTGTGTGTTTCTGAG	0.328													28	23	---	---	---	---					
TRIM44	54765	broad.mit.edu	37	11	35684955	35684956	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr11:35684955_35684956insT	uc001mwi.2	+	0	603_604	c.296_297insT	c.(295-297)agtfs	p.S99fs		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	99	Glu-rich.					intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				ggggaagagagtgagtcggagg	0.589													66	186	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671097	25671098	+	Frame_Shift_Ins	INS	-	-	T	rs140090397	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr13:25671097_25671098insT	uc001upy.3	+	0	822_823	c.761_762insT	c.(760-762)aagfs	p.K254fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	254	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGAATGGAAAGGAGCTCAATG	0.401													11	155	---	---	---	---					
FLJ36000	284124	broad.mit.edu	37	17	21911266	21911267	+	RNA	INS	-	-	TGTGTG	rs66463211	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:21911266_21911267insTGTGTG	uc002gza.2	+	1		c.1994_1995insTGTGTG								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gtttttgtttctgtgtgtgtgt	0.505													3	5	---	---	---	---					
C17orf64	124773	broad.mit.edu	37	17	58499974	58499975	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr17:58499974_58499975insG	uc002iyq.3	+	0	110_111	c.21_22insG	c.(19-24)caagggfs	p.Q7fs		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	7										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CAGATGGGCAAGGGGGTGAAGG	0.614													7	193	---	---	---	---					
PLAC4	191585	broad.mit.edu	37	21	42551433	42551433	+	Frame_Shift_Del	DEL	G	G	-	rs5844069		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr21:42551433delG	uc002yyz.3	-	0	5734	c.123delC	c.(121-123)cccfs	p.P41fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	41				P -> H (in Ref. 1; AAG23170).									Prostate(19;2.29e-06)				GACGGTGTCTGGGGTGAGTGA	0.607													27	253	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													10	38	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs66577617	by1000genomes	TCGA-A4-A5Y1-01A-11D-A28G-10	TCGA-A4-A5Y1-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39eb3bc2-c190-47cb-b9c7-20278d7e1692	2eeacc32-d82b-4e45-908f-19cb21710b93	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	uc002zto.3	+	7	754	c.651_splice	c.e7+1	p.E217_splice	LZTR1_uc002ztn.3_Splice_Site_p.E176_splice|LZTR1_uc011ahy.2_Splice_Site_p.E198_splice|LZTR1_uc010gsr.1_Splice_Site_p.E88_splice	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	217					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662													11	30	---	---	---	---					
