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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FLG	2312	broad.mit.edu	37	1	152276908	152276908	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr1:152276908G>A	uc001ezu.1	-	2	10490	c.10454C>T	c.(10453-10455)gCc>gTc	p.A3485V		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3485	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGCTGGCACTTCTGGA	0.557000									Ichthyosis					238			127		0	0	0.000781405	0	0
RALBP1	10928	broad.mit.edu	37	18	9535719	9535719	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr18:9535719C>G	uc002kob.3	+	9	1975	c.1752C>G	c.(1750-1752)atC>atG	p.I584M	RALBP1_uc002koc.3_Missense_Mutation_p.I584M	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	584					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCGAGGCCATCATCGAGCTGC	0.582000														7			8		0	0	0.000442599	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513331	70513331	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr4:70513331T>C	uc011caq.2	-	1	148	c.32A>G	c.(31-33)cAg>cGg	p.Q11R	UGT2A1_uc010ihu.3_Missense_Mutation_p.Q11R|UGT2A1_uc003hem.4_Missense_Mutation_p.Q11R|UGT2A1_uc010iht.3_Missense_Mutation_p.Q11R	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	11					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGACTTATCTGAAGGGAGAA	0.363000														22			11		0	0	0.00136819	0	0
OTOGL	283310	broad.mit.edu	37	12	80626779	80626779	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:80626779G>A	uc001szd.3	+	7	698	c.692G>A	c.(691-693)gGg>gAg	p.G231E		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGGATATCTGGGATCTACCTC	0.413000														37			31		0	0	0.00178596	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798706	140798706	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr5:140798706G>A	uc003lkn.2	+	0	1447	c.1280G>A	c.(1279-1281)aGg>aAg	p.R427K	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.R427K|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	429	Cadherin 4.				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)			GCCACAGACAGGGGCAAGCCT	0.512000														41			6		0	0	0.00116845	0	0
PRRG1	5638	broad.mit.edu	37	X	37312814	37312814	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chrX:37312814A>G	uc004ddn.3	+	4	850	c.597A>G	c.(595-597)atA>atG	p.I199M	PRRG1_uc004ddo.3_Missense_Mutation_p.I199M|PRRG1_uc022buu.1_Missense_Mutation_p.I199M|PRRG1_uc022buv.1_Missense_Mutation_p.I199M	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	199						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGAGGACATAGTCAACTCCA	0.473000														62			3		0	0	6.4e-05	0	0
DUSP13	51207	broad.mit.edu	37	10	76868897	76868897	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr10:76868897G>A	uc001jww.3	-	0	74	c.19C>T	c.(19-21)Cca>Tca	p.P7S	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.P7S|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	7						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCAGCTCTGGGAGAGAGGTC	0.627000														30			22		0	0	0.000295444	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661946	8661946	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:8661946A>C	uc002mkj.1	-	7	1239	c.965T>G	c.(964-966)gTg>gGg	p.V322G	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCTGTGGTTCACGATGGATTT	0.572000														50			36		0	0	0.00058488	0	0
COL7A1	1294	broad.mit.edu	37	3	48602253	48602253	+	Silent	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr3:48602253G>A	uc003ctz.2	-	116	8782	c.8781C>T	c.(8779-8781)cgC>cgT	p.R2927R	UCN2_uc003cty.1_5'Flank|UCN2_uc021wxo.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2927	BPTI/Kunitz inhibitor.|Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.E2926K(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGGCAGCGGCGCTCGCAGG	0.662000														25			23		0	0	0.000295444	0	0
CAP1	10487	broad.mit.edu	37	1	40535481	40535481	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr1:40535481T>C	uc009vvz.3	+	8	1142	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	CAP1_uc010oje.2_Missense_Mutation_p.S227P|CAP1_uc001cfa.4_Missense_Mutation_p.S310P|CAP1_uc001cey.4_Missense_Mutation_p.S310P|CAP1_uc001cez.4_Missense_Mutation_p.S310P	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	310					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCAGCCCATCCCCCAAACG	0.522000														45			5		0	0	0.000878237	0	0
HERC1	8925	broad.mit.edu	37	15	63978661	63978661	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr15:63978661T>C	uc002amp.3	-	33	6270	c.6122A>G	c.(6121-6123)cAg>cGg	p.Q2041R		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2041	B30.2/SPRY.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGGCAACACTGAGCTTTCTC	0.473000														147			109		0	0	0.000781405	0	0
DPP3	10072	broad.mit.edu	37	11	66272197	66272197	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr11:66272197C>T	uc001oig.1	+	16	2055	c.1993C>T	c.(1993-1995)Cgt>Tgt	p.R665C	DPP3_uc001oif.1_Missense_Mutation_p.R665C|DPP3_uc010rpe.1_Missense_Mutation_p.R654C|BBS1_uc001oih.1_Silent_p.C32C	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	665					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGTGCTGCTGCGTAAGGAATC	0.592000														140			10		0	0	0.00185496	0	0
RANBP10	57610	broad.mit.edu	37	16	67840265	67840265	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr16:67840265G>A	uc002eud.3	-	0	291	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Missense_Mutation_p.P59S|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Missense_Mutation_p.P59S|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	59	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TTGTCCTTGGGGCTCCAGGAG	0.642000														16			6		0	0	0.00116845	0	0
RBM15B	29890	broad.mit.edu	37	3	51431021	51431021	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr3:51431021A>T	uc003dbd.3	+	0	2323	c.2191A>T	c.(2191-2193)Agc>Tgc	p.S731C		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	731	Interaction with Epstein-Barr virus BMLF1.|SPOC.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGAAAAACAGCTGCTTCCC	0.512000														77			10		0	0	0.000442599	0	0
RSF1	51773	broad.mit.edu	37	11	77412531	77412531	+	Silent	SNP	G	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr11:77412531G>T	uc001oyn.3	-	5	1863	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	RSF1_uc001oym.3_Silent_p.I329I	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	581					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACATTCTAGGATTGGTGGGC	0.403000														140			88		3.05217e-42	4.79801e-41	0.000781405	1	0
TCL1B	9623	broad.mit.edu	37	14	96152848	96152848	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr14:96152848G>A	uc001yfa.3	+	0	95	c.44G>A	c.(43-45)cGt>cAt	p.R15H	TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Missense_Mutation_p.R15H	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	15										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCCCCTGGCCGTCTGTGGATC	0.627000														58			50		0	0	0.000781405	0	0
ZNF578	147660	broad.mit.edu	37	19	53014896	53014896	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:53014896A>C	uc002pzp.4	+	5	1506	c.1262A>C	c.(1261-1263)cAt>cCt	p.H421P		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CATAGACTTCATACTGGAGAG	0.383000														120			8		0	0	0.000157383	0	0
TNPO3	23534	broad.mit.edu	37	7	128641219	128641219	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr7:128641219T>C	uc010lly.2	-	5	1169	c.766A>G	c.(766-768)Att>Gtt	p.I256V	TNPO3_uc003vol.2_Missense_Mutation_p.I256V|TNPO3_uc010llz.2_Missense_Mutation_p.I256V|TNPO3_uc003vom.2_Missense_Mutation_p.I190V	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	256					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACATTCTCAATGGCATAGAGA	0.483000														169			93		0	0	0.000781405	0	0
DHX36	170506	broad.mit.edu	37	3	154006708	154006708	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr3:154006708C>T	uc003ezy.4	-	16	2059	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	DHX36_uc010hvq.3_Missense_Mutation_p.D646N|DHX36_uc003ezz.4_Missense_Mutation_p.D660N	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	660						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATGGTGGGTCCATTAATCTA	0.313000														26			11		0	0	0.00185496	0	0
DDX4	54514	broad.mit.edu	37	5	55088515	55088515	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr5:55088515G>T	uc003jqg.4	+	16	1448	c.1349G>T	c.(1348-1350)cGc>cTc	p.R450L	DDX4_uc010ivz.3_Missense_Mutation_p.R430L|DDX4_uc003jqh.4_Missense_Mutation_p.R416L|DDX4_uc003jqj.3_Missense_Mutation_p.R301L	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	450	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAGCTGATCGCATGTTGGAT	0.353000														30			21		3.62473e-10	5.58635e-09	0.00188189	1	0
ATM	472	broad.mit.edu	37	11	108206609	108206609	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr11:108206609A>C	uc001pkb.1	+	55	8574	c.8189A>C	c.(8188-8190)cAg>cCg	p.Q2730P	ATM_uc009yxr.1_Missense_Mutation_p.Q2730P|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.Q1382P	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2730	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTCATGCAACAGGTCTTCCAG	0.348000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				31			15		0	0	0.000422831	0	0
LRP6	4040	broad.mit.edu	37	12	12311914	12311914	+	Silent	SNP	G	A	A	rs151241193	byFrequency	TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:12311914G>A	uc001rah.4	-	11	2782	c.2640C>T	c.(2638-2640)ctC>ctT	p.L880L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.L880L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	880	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGTGAAAGACGAGGATGTCCA	0.537000														41			23		0	0	0.000878237	0	0
AKAP17A	8227	broad.mit.edu	37	X	1720241	1720241	+	Silent	SNP	C	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chrX:1720241C>T	uc004cqa.3	+	4	2038	c.1842C>T	c.(1840-1842)gaC>gaT	p.D614D	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	614	Arg-rich.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCAGGGAGGACGGGAGGCCAC	0.751000														11			7		0	0	8.12818e-05	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														58			3		0	0	6.4e-05	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35529913	35529913	+	RNA	SNP	C	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr15:35529913C>G	uc001ziy.3	+	0		c.387C>G								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		CCAACCTGAACGACTACCGAG	0.473000														65			29		0	0	0.00058488	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012450	134012450	+	Silent	SNP	C	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr10:134012450C>T	uc009ybb.3	+	7	940	c.786C>T	c.(784-786)gaC>gaT	p.D262D		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	262					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGCGGCCGACGCCATCGCTC	0.677000														51			7		0	0	0.000157383	0	0
MPPE1	65258	broad.mit.edu	37	18	11887001	11887001	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr18:11887001G>A	uc002kqf.3	-	6	1389	c.593C>T	c.(592-594)gCg>gTg	p.A198V	MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Missense_Mutation_p.A198V|MPPE1_uc002kqm.3_Missense_Mutation_p.A198V|MPPE1_uc010dla.2_Missense_Mutation_p.A198V	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	198					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity	p.A198P(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCCGTTCAGCGCCACGCTGTT	0.532000														31			27		0	0	0.00106085	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														71			3		0	0	6.4e-05	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287196	53287196	+	Silent	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr1:53287196T>C	uc001cuj.3	+	13	2325	c.2130T>C	c.(2128-2130)caT>caC	p.H710H	ZYG11B_uc010onj.2_Silent_p.H631H|ZYG11B_uc009vzh.3_Silent_p.H132H	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	710							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGATCCCCATGTCCAACAGA	0.433000														36			30		0	0	0.001512	0	0
PION	54103	broad.mit.edu	37	7	77006706	77006706	+	Splice_Site	SNP	A	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr7:77006706A>C	uc003ugf.3	-	9	656	c.577_splice	c.e9-1	p.V193_splice	PION_uc003ugg.1_Splice_Site	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	193					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATTTTTAATCACCTAAAAATG	0.308000														85			10		0	0	0.00121646	0	0
MANSC1	54682	broad.mit.edu	37	12	12483324	12483324	+	Silent	SNP	C	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:12483324C>A	uc001rai.1	-	3	1191	c.933G>T	c.(931-933)acG>acT	p.T311T	MANSC1_uc010shm.1_Silent_p.T245T|MANSC1_uc001raj.1_Silent_p.T277T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	311	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTTTCGAGTCCGTAGGTGCCT	0.468000														99			7		0.000274275	0.00406755	0.000274275	1	0
TMEM120A	83862	broad.mit.edu	37	7	75616533	75616533	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr7:75616533T>C	uc003ued.3	-	12	1090	c.986A>G	c.(985-987)cAc>cGc	p.H329R	TMEM120A_uc003ueb.1_3'UTR|TMEM120A_uc003uec.2_Silent_p.A213A	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	330						integral to membrane											AAACTTGTGGTGCACAACCCT	0.597000														8			6		0	0	0.000157383	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000														68			3		0	0	0.000602214	0	0
ZNF404	342908	broad.mit.edu	37	19	44377748	44377748	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr19:44377748C>G	uc002oxs.4	-	1	609	c.609G>C	c.(607-609)caG>caC	p.Q203H		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TATGAATTATCTGATGCTGAA	0.368000														78			53		0	0	0.000781405	0	0
C4orf26	152816	broad.mit.edu	37	4	76489342	76489342	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr4:76489342C>T	uc011cbo.2	+	2	165	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Missense_Mutation_p.T29M	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGGTATTTACGCCTCCTGGA	0.527000														46			34		0	0	0.00128727	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														2			3		0	0	0.00024832	0	0
TPO	7173	broad.mit.edu	37	2	1488542	1488542	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr2:1488542G>A	uc002qwr.3	+	8	1599	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.D505N|TPO_uc002qwx.3_Missense_Mutation_p.D505N|TPO_uc002qwu.3_Missense_Mutation_p.D505N|TPO_uc010yio.2_Missense_Mutation_p.D332N|TPO_uc010yip.2_Missense_Mutation_p.D505N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	505					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAGGAGGCTGGACGCCAGCTT	0.642000														55			8		0	0	0.000157383	0	0
DOCK11	139818	broad.mit.edu	37	X	117707873	117707873	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chrX:117707873G>A	uc004eqp.2	+	11	1344	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	DOCK11_uc004eqq.2_Missense_Mutation_p.M193I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	427					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCCGTGAAATGCTGTGGGGCT	0.448000														70			66		0	0	0.000781405	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035804	36035804	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr5:36035804G>A	uc003jjz.2	-	6	1700	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	UGT3A2_uc011cos.2_Missense_Mutation_p.T489I|UGT3A2_uc011cot.2_Missense_Mutation_p.T221I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	523						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCCTTATGTCTCCTTCAC	0.582000														30			15		0	0	0.00074312	0	0
C11orf1	64776	broad.mit.edu	37	11	111753250	111753250	+	Silent	SNP	C	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr11:111753250C>T	uc001pme.3	+	1	999	c.324C>T	c.(322-324)acC>acT	p.T108T	C11orf1_uc001pmd.3_Silent_p.T68T	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	Homo sapiens chromosome 11 open reading frame 1 (C11orf1), mRNA.	68						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CAAACCGTACCCTGATGGGCA	0.438000														43			22		0	0	0.000720815	0	0
DNAH9	1770	broad.mit.edu	37	17	11520831	11520831	+	Silent	SNP	G	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr17:11520831G>C	uc002gne.3	+	4	1076	c.1008G>C	c.(1006-1008)cgG>cgC	p.R336R		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	336	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCAGCTGCGGCCCCTGCTCC	0.592000														36			13		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179443931	179443931	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr2:179443931A>G	uc021vsy.1	-	268	60347	c.60122T>C	c.(60121-60123)aTa>aCa	p.I20041T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I13736T|TTN_uc021vta.1_Missense_Mutation_p.I13669T|TTN_uc021vtb.1_Missense_Mutation_p.I13544T|AX746670_uc002umv.1_Missense_Mutation_p.I53V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20968	Fibronectin type-III 45.						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)			ATCGTACACTATAAGAGTTGT	0.448000														124			35		0	0	0.00128727	0	0
CCL26	10344	broad.mit.edu	37	7	75401236	75401236	+	Silent	SNP	G	C	C			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr7:75401236G>C	uc003udt.1	-	2	267	c.159C>G	c.(157-159)acC>acG	p.T53T		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA.	53					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity	p.T53S(1)		lung(3)	3						AGCTGTTACTGGTGAATTCAT	0.552000														83			3		0	0	6.4e-05	0	0
FKBP11	51303	broad.mit.edu	37	12	49319118	49319118	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:49319118C>G	uc001rsp.3	-	0	213	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	FKBP11_uc010sma.2_5'Flank|FKBP11_uc001rsq.4_Missense_Mutation_p.E32Q|FKBP11_uc010smb.1_Missense_Mutation_p.E32Q	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	Homo sapiens FK506 binding protein 11, 19 kDa (FKBP11), transcript variant 1, mRNA.	32					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						ACGGGACTTTCGGTTTCGAGC	0.662000														17			11		0	0	0.00185496	0	0
PHF20L1	51105	broad.mit.edu	37	8	133836263	133836264	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr8:133836263_133836264insA	uc003ytt.3	+	12	1919_1920	c.1594_1595insA	c.(1594-1596)gaafs	p.E532fs	PHF20L1_uc003yts.3_Frame_Shift_Ins_p.E532fs|PHF20L1_uc011lja.2_Frame_Shift_Ins_p.E506fs|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	532	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCGAAAACAGAAAAAAAAGTG	0.317													---	192	---	---	206	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	-	-	rs66529359	by1000genomes	TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	uc001sau.1	-	8	1715_1735	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y	KRT1_uc001sav.1_Splice_Site_p.G556_splice	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(6)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													---	4	---	---	3	---					
TARBP2	6895	broad.mit.edu	37	12	53895924	53895925	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr12:53895924_53895925insT	uc001sdo.3	+	1	667_668	c.179_180insT	c.(178-180)cctfs	p.P60fs	MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Frame_Shift_Ins_p.P60fs|TARBP2_uc001sdp.3_Frame_Shift_Ins_p.P39fs|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Frame_Shift_Ins_p.P39fs	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	60	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GCCCACCAGCCTAATTTCACCT	0.599													---	41	---	---	25	---					
ALPK3	57538	broad.mit.edu	37	15	85400008	85400009	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7056-01A-11D-1961-08	TCGA-BQ-7056-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8030657c-5a4c-49c4-a1c4-87344411c96f	5f202358-ec0a-45aa-b346-79d9e4f5b268	g.chr15:85400008_85400009insA	uc002ble.3	+	5	2812_2813	c.2645_2646insA	c.(2644-2646)atafs	p.I882fs		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	882					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTGAGAAGATACAGGAAGACA	0.554													---	25	---	---	26	---					
